DSCAML1 — 1512 ClinVar variants
All ClinVar germline DSCAML1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 695 flagged for review →
4 Conflicting · 62 Benign · 3 Benign/Likely benign · 592 Likely benign · 851 Uncertain significance
Full DSCAML1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 695
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- DSCAML1 p.Lys720Arg Conflicting Single submitter
-
DSCAML1 p.Val411Ile
Conflicting
Single submitter
Abnormal brain morphology
Predictors lean, ClinVar uncertain 573
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 573
- DSCAML1 p.Ala1060Ser Uncertain significance Multiple submitters
- DSCAML1 p.Ala1331Thr Uncertain significance Multiple submitters
- DSCAML1 p.Ala1680Thr Uncertain significance Multiple submitters
- DSCAML1 p.Ala1827Thr Uncertain significance Multiple submitters
- DSCAML1 p.Ala1928Thr Uncertain significance Multiple submitters
- DSCAML1 p.Ala1962Thr Uncertain significance Multiple submitters
- DSCAML1 p.Ala1964Gly Uncertain significance Multiple submitters
- DSCAML1 p.Ala1967Asp Uncertain significance Multiple submitters
- DSCAML1 p.Ala1984Gly Uncertain significance Multiple submitters
- DSCAML1 p.Ala1984Val Uncertain significance Multiple submitters
- DSCAML1 p.Ala2001Thr Uncertain significance Multiple submitters
- DSCAML1 p.Ala2002Asp Uncertain significance Multiple submitters
- DSCAML1 p.Ala2002Val Uncertain significance Multiple submitters
- DSCAML1 p.Ala2005Val Uncertain significance Multiple submitters
- DSCAML1 p.Ala2045Val Uncertain significance Multiple submitters
- DSCAML1 p.Ala256Thr Uncertain significance Multiple submitters
- DSCAML1 p.Ala268Pro Uncertain significance Multiple submitters
- DSCAML1 p.Ala78Val Uncertain significance Multiple submitters
- DSCAML1 p.Ala840Thr Uncertain significance Multiple submitters
- DSCAML1 p.Arg1020Gln Uncertain significance Multiple submitters
- DSCAML1 p.Arg1071Trp Uncertain significance Multiple submitters
- DSCAML1 p.Arg1098Gln Uncertain significance Multiple submitters
- DSCAML1 p.Arg1149Gln Uncertain significance Multiple submitters
- DSCAML1 p.Arg1151Trp Uncertain significance Multiple submitters
- DSCAML1 p.Arg1155Gln Uncertain significance Multiple submitters
- DSCAML1 p.Arg1308Gln Uncertain significance Multiple submitters
- DSCAML1 p.Arg1388His Uncertain significance Multiple submitters
- DSCAML1 p.Arg1477Gln Uncertain significance Multiple submitters
- DSCAML1 p.Arg1529Gln Uncertain significance Multiple submitters
- DSCAML1 p.Arg1613His Uncertain significance Multiple submitters
- DSCAML1 p.Arg1654Gln Uncertain significance Multiple submitters
- DSCAML1 p.Arg1743Gln Uncertain significance Multiple submitters
- DSCAML1 p.Arg1743Trp Uncertain significance Multiple submitters
- DSCAML1 p.Arg1760His Uncertain significance Multiple submitters
- DSCAML1 p.Arg1813Gln Uncertain significance Multiple submitters
- DSCAML1 p.Arg1881Trp Uncertain significance Multiple submitters
- DSCAML1 p.Arg1942His Uncertain significance Multiple submitters
- DSCAML1 p.Arg1972Ser Uncertain significance Multiple submitters
- DSCAML1 p.Arg258His Uncertain significance Multiple submitters
- DSCAML1 p.Arg264Gln Uncertain significance Multiple submitters
- DSCAML1 p.Arg285Gln Uncertain significance Multiple submitters
- DSCAML1 p.Arg350Cys Uncertain significance Multiple submitters
- DSCAML1 p.Arg350His Uncertain significance Multiple submitters
- DSCAML1 p.Arg364His Uncertain significance Multiple submitters
- DSCAML1 p.Arg488Gln Uncertain significance Multiple submitters
- DSCAML1 p.Arg512Gln Uncertain significance Multiple submitters
- DSCAML1 p.Arg520Gln Uncertain significance Multiple submitters
- DSCAML1 p.Arg813Gln Uncertain significance Multiple submitters
- DSCAML1 p.Arg816Leu Uncertain significance Multiple submitters
- DSCAML1 p.Arg896Gln Uncertain significance Multiple submitters
- DSCAML1 p.Arg970His Uncertain significance Multiple submitters
- DSCAML1 p.Asn939Ser Uncertain significance Multiple submitters
- DSCAML1 p.Asp1718Asn Uncertain significance Multiple submitters
- DSCAML1 p.Asp283Asn Uncertain significance Multiple submitters
- DSCAML1 p.Asp987Asn Uncertain significance Multiple submitters
- DSCAML1 p.Gln393His Uncertain significance Multiple submitters
- DSCAML1 p.Glu1427Lys Uncertain significance Multiple submitters
- DSCAML1 p.Gly1032Ser Uncertain significance Multiple submitters
- DSCAML1 p.Gly1476Arg Uncertain significance Multiple submitters
- DSCAML1 p.Gly1560Ser Uncertain significance Multiple submitters
- DSCAML1 p.Gly1586Arg Uncertain significance Multiple submitters
- DSCAML1 p.Gly1596Ser Uncertain significance Multiple submitters
- DSCAML1 p.Gly1774Val Uncertain significance Multiple submitters
- DSCAML1 p.Gly2014Arg Uncertain significance Multiple submitters
- DSCAML1 p.Gly2034Arg Uncertain significance Multiple submitters
- DSCAML1 p.Gly2042Arg Uncertain significance Multiple submitters
- DSCAML1 p.Gly327Ser Uncertain significance Multiple submitters
- DSCAML1 p.Gly464Ser Uncertain significance Multiple submitters
- DSCAML1 p.Gly519Arg Uncertain significance Multiple submitters
- DSCAML1 p.Gly845Ser Uncertain significance Multiple submitters
- DSCAML1 p.His1943Gln Uncertain significance Multiple submitters
- DSCAML1 p.Ile1226Val Uncertain significance Multiple submitters
- DSCAML1 p.Ile1657Val Uncertain significance Multiple submitters
- DSCAML1 p.Ile1930Met Uncertain significance Multiple submitters
- DSCAML1 p.Ile225Leu Uncertain significance Multiple submitters
- DSCAML1 p.Leu1341Ile Uncertain significance Multiple submitters
- DSCAML1 p.Leu147Pro Uncertain significance Multiple submitters
- DSCAML1 p.Met2020Ile Uncertain significance Multiple submitters
- DSCAML1 p.Met310Leu Uncertain significance Multiple submitters
- DSCAML1 p.Pro1214Ala Uncertain significance Multiple submitters
- DSCAML1 p.Pro1902Leu Uncertain significance Multiple submitters
- DSCAML1 p.Pro1979Leu Uncertain significance Multiple submitters
- DSCAML1 p.Pro1980Gln Uncertain significance Multiple submitters
- DSCAML1 p.Pro1986Ser Uncertain significance Multiple submitters
- DSCAML1 p.Pro1988Leu Uncertain significance Multiple submitters
- DSCAML1 p.Pro2011Ser Uncertain significance Multiple submitters
- DSCAML1 p.Pro437Ser Uncertain significance Multiple submitters
- DSCAML1 p.Pro718Gln Uncertain significance Multiple submitters
- DSCAML1 p.Pro891Ala Uncertain significance Multiple submitters
- DSCAML1 p.Pro89Ala Uncertain significance Multiple submitters
- DSCAML1 p.Ser1330Leu Uncertain significance Multiple submitters
- DSCAML1 p.Ser1421Leu Uncertain significance Multiple submitters
- DSCAML1 p.Ser1739Gly Uncertain significance Multiple submitters
- DSCAML1 p.Ser250Leu Uncertain significance Multiple submitters
- DSCAML1 p.Thr1148Met Uncertain significance Multiple submitters
- DSCAML1 p.Thr1362Met Uncertain significance Multiple submitters
- DSCAML1 p.Thr1489Ala Uncertain significance Multiple submitters
- DSCAML1 p.Thr1776Met Uncertain significance Multiple submitters
- DSCAML1 p.Thr438Met Uncertain significance Multiple submitters
- DSCAML1 p.Val1040Met Uncertain significance Multiple submitters
- DSCAML1 p.Val1108Ile Uncertain significance Multiple submitters
- DSCAML1 p.Val1122Ile Uncertain significance Multiple submitters
-
DSCAML1 p.Val1177Ile
Uncertain significance
Multiple submitters
Marfanoid habitus and intellectual disability
- DSCAML1 p.Val1200Ile Uncertain significance Multiple submitters
- DSCAML1 p.Val1299Met Uncertain significance Multiple submitters
- DSCAML1 p.Val1417Leu Uncertain significance Multiple submitters
- DSCAML1 p.Val158Ile Uncertain significance Multiple submitters
- DSCAML1 p.Val1606Met Uncertain significance Multiple submitters
- DSCAML1 p.Val1769Met Uncertain significance Multiple submitters
- DSCAML1 p.Val1922Met Uncertain significance Multiple submitters
- DSCAML1 p.Val41Met Uncertain significance Multiple submitters
- DSCAML1 p.Val43Gly Uncertain significance Multiple submitters
- DSCAML1 p.Val449Met Uncertain significance Multiple submitters
- DSCAML1 p.Val589Ile Uncertain significance Multiple submitters
- DSCAML1 p.Val773Ile Uncertain significance Multiple submitters
- DSCAML1 p.Ala1044Thr Uncertain significance Single submitter
- DSCAML1 p.Ala1060Thr Uncertain significance Single submitter
- DSCAML1 p.Ala1253Gly Uncertain significance Single submitter
- DSCAML1 p.Ala1253Ser Uncertain significance Single submitter
- DSCAML1 p.Ala1271Ser Uncertain significance Single submitter
- DSCAML1 p.Ala1320Val Uncertain significance Single submitter
- DSCAML1 p.Ala1352Thr Uncertain significance Single submitter
- DSCAML1 p.Ala1553Ser Uncertain significance Single submitter
- DSCAML1 p.Ala1567Thr Uncertain significance Single submitter
- DSCAML1 p.Ala1602Gly Uncertain significance Single submitter
- DSCAML1 p.Ala1680Val Uncertain significance Single submitter
- DSCAML1 p.Ala1879Ser Uncertain significance Single submitter
- DSCAML1 p.Ala1879Val Uncertain significance Single submitter
- DSCAML1 p.Ala1914Gly Uncertain significance Single submitter
- DSCAML1 p.Ala192Thr Uncertain significance Single submitter
- DSCAML1 p.Ala1941Thr Uncertain significance Single submitter
- DSCAML1 p.Ala1949Thr Uncertain significance Single submitter
- DSCAML1 p.Ala1960Asp Uncertain significance Single submitter
- DSCAML1 p.Ala1960Ser Uncertain significance Single submitter
- DSCAML1 p.Ala1960Val Uncertain significance Single submitter
- DSCAML1 p.Ala1964Thr Uncertain significance Single submitter
- DSCAML1 p.Ala1967Val Uncertain significance Single submitter
- DSCAML1 p.Ala1975Thr Uncertain significance Single submitter
- DSCAML1 p.Ala1975Val Uncertain significance Single submitter
- DSCAML1 p.Ala1978Asp Uncertain significance Single submitter
- DSCAML1 p.Ala1978Pro Uncertain significance Single submitter
- DSCAML1 p.Ala1981Thr Uncertain significance Single submitter
- DSCAML1 p.Ala1984Asp Uncertain significance Single submitter
- DSCAML1 p.Ala1984Thr Uncertain significance Single submitter
- DSCAML1 p.Ala1987Val Uncertain significance Single submitter
- DSCAML1 p.Ala1998Thr Uncertain significance Single submitter
- DSCAML1 p.Ala2005Asp Uncertain significance Single submitter
- DSCAML1 p.Ala2013Thr Uncertain significance Single submitter
- DSCAML1 p.Ala2043Val Uncertain significance Single submitter
- DSCAML1 p.Ala2045Ser Uncertain significance Single submitter
Predictors split 120
The independent predictors disagree with each other — read with care.
- DSCAML1 p.Arg1613Ser Uncertain significance Multiple submitters
- DSCAML1 p.Arg1926Cys Uncertain significance Multiple submitters
- DSCAML1 p.Arg197His Uncertain significance Multiple submitters
- DSCAML1 p.Arg271His Uncertain significance Multiple submitters
- DSCAML1 p.Arg364Cys Uncertain significance Multiple submitters
- DSCAML1 p.Arg901Gln Uncertain significance Multiple submitters
- DSCAML1 p.Arg970Cys Uncertain significance Multiple submitters
- DSCAML1 p.Asn420Lys Uncertain significance Multiple submitters
- DSCAML1 p.Glu2029Lys Uncertain significance Multiple submitters
- DSCAML1 p.Glu760Val Uncertain significance Multiple submitters
- DSCAML1 p.Gly181Arg Uncertain significance Multiple submitters
- DSCAML1 p.Gly206Ala Uncertain significance Multiple submitters
- DSCAML1 p.Gly206Arg Uncertain significance Multiple submitters
- DSCAML1 p.Ile1413Met Uncertain significance Multiple submitters
- DSCAML1 p.Ile448Thr Uncertain significance Multiple submitters
- DSCAML1 p.Ile744Asn Uncertain significance Multiple submitters
- DSCAML1 p.Ile895Ser Uncertain significance Multiple submitters
- DSCAML1 p.Leu403Phe Uncertain significance Multiple submitters
- DSCAML1 p.Lys594Asn Uncertain significance Multiple submitters
- DSCAML1 p.Met461Ile Uncertain significance Multiple submitters
- DSCAML1 p.Phe1227Leu Uncertain significance Multiple submitters
- DSCAML1 p.Pro435Leu Uncertain significance Multiple submitters
- DSCAML1 p.Thr1243Arg Uncertain significance Multiple submitters
- DSCAML1 p.Thr1968Ile Uncertain significance Multiple submitters
- DSCAML1 p.Tyr1571His Uncertain significance Multiple submitters
- DSCAML1 p.Val1353Ala Uncertain significance Multiple submitters
- DSCAML1 p.Val1461Met Uncertain significance Multiple submitters
- DSCAML1 p.Ala142Val Uncertain significance Single submitter
- DSCAML1 p.Ala487Val Uncertain significance Single submitter
- DSCAML1 p.Ala769Ser Uncertain significance Single submitter
- DSCAML1 p.Ala900Val Uncertain significance Single submitter
- DSCAML1 p.Arg1149Trp Uncertain significance Single submitter
- DSCAML1 p.Arg1151Gly Uncertain significance Single submitter
- DSCAML1 p.Arg1273Pro Uncertain significance Single submitter
- DSCAML1 p.Arg130Trp Uncertain significance Single submitter
- DSCAML1 p.Arg1518Gln Uncertain significance Single submitter
- DSCAML1 p.Arg1654Pro Uncertain significance Single submitter
- DSCAML1 p.Arg1661Ser Uncertain significance Single submitter
- DSCAML1 p.Arg1767Cys Uncertain significance Single submitter
- DSCAML1 p.Arg1767Pro Uncertain significance Single submitter
- DSCAML1 p.Arg1868Cys Uncertain significance Single submitter
- DSCAML1 p.Arg1931Trp Uncertain significance Single submitter
- DSCAML1 p.Arg215His Uncertain significance Single submitter
- DSCAML1 p.Arg275Pro Uncertain significance Single submitter
- DSCAML1 p.Arg390Cys Uncertain significance Single submitter
- DSCAML1 p.Arg755Cys Uncertain significance Single submitter
- DSCAML1 p.Arg859His Uncertain significance Single submitter
- DSCAML1 p.Arg906Gly Uncertain significance Single submitter
- DSCAML1 p.Arg938Cys Uncertain significance Single submitter
- DSCAML1 p.Asn1070Ser Uncertain significance Single submitter
- DSCAML1 p.Asn457Lys Uncertain significance Single submitter
- DSCAML1 p.Asp1372Asn Uncertain significance Single submitter
- DSCAML1 p.Asp1385Glu Uncertain significance Single submitter
- DSCAML1 p.Asp20His Uncertain significance Single submitter
- DSCAML1 p.Asp444Asn Uncertain significance Single submitter
- DSCAML1 p.Asp444Glu Uncertain significance Single submitter
- DSCAML1 p.Asp479Asn Uncertain significance Single submitter
- DSCAML1 p.Asp479Glu Uncertain significance Single submitter
- DSCAML1 p.Asp876Glu Uncertain significance Single submitter
- DSCAML1 p.Asp912Asn Uncertain significance Single submitter
- DSCAML1 p.Asp987Glu Uncertain significance Single submitter
- DSCAML1 p.Asp98His Uncertain significance Single submitter
- DSCAML1 p.Cys1753Tyr Uncertain significance Single submitter
- DSCAML1 p.Cys1834Arg Uncertain significance Single submitter
- DSCAML1 p.Gln587His Uncertain significance Single submitter
- DSCAML1 p.Glu1028Asp Uncertain significance Single submitter
- DSCAML1 p.Glu1468Lys Uncertain significance Single submitter
- DSCAML1 p.Glu1471Lys Uncertain significance Single submitter
- DSCAML1 p.Glu1516Asp Uncertain significance Single submitter
- DSCAML1 p.Glu1809Lys Uncertain significance Single submitter
- DSCAML1 p.Glu976Gly Uncertain significance Single submitter
- DSCAML1 p.Gly1156Arg Uncertain significance Single submitter
- DSCAML1 p.Gly180Ser Uncertain significance Single submitter
- DSCAML1 p.Gly240Ser Uncertain significance Single submitter
- DSCAML1 p.Gly251Ala Uncertain significance Single submitter
- DSCAML1 p.Gly422Arg Uncertain significance Single submitter
- DSCAML1 p.Gly704Ser Uncertain significance Single submitter
- DSCAML1 p.Gly707Asp Uncertain significance Single submitter
- DSCAML1 p.Gly774Asp Uncertain significance Single submitter
- DSCAML1 p.Ile1332Thr Uncertain significance Single submitter
- DSCAML1 p.Ile1404Thr Uncertain significance Single submitter
- DSCAML1 p.Ile1657Thr Uncertain significance Single submitter
- DSCAML1 p.Ile1659Thr Uncertain significance Single submitter
- DSCAML1 p.Ile1682Asn Uncertain significance Single submitter
- DSCAML1 p.Ile1682Thr Uncertain significance Single submitter
- DSCAML1 p.Leu1655Pro Uncertain significance Single submitter
- DSCAML1 p.Leu25Phe Uncertain significance Single submitter
- DSCAML1 p.Leu338Pro Uncertain significance Single submitter
- DSCAML1 p.Lys1008Asn Uncertain significance Single submitter
- DSCAML1 p.Lys537Asn Uncertain significance Single submitter
- DSCAML1 p.Lys802Asn Uncertain significance Single submitter
- DSCAML1 p.Met428Ile Uncertain significance Single submitter
- DSCAML1 p.Met781Thr Uncertain significance Single submitter
- DSCAML1 p.Phe1537Leu Uncertain significance Single submitter
- DSCAML1 p.Phe1566Leu Uncertain significance Single submitter
- DSCAML1 p.Phe782Ile Uncertain significance Single submitter
- DSCAML1 p.Phe933Cys Uncertain significance Single submitter
- DSCAML1 p.Pro1238Ser Uncertain significance Single submitter
- DSCAML1 p.Pro1660Ser Uncertain significance Single submitter
- DSCAML1 p.Pro221Leu Uncertain significance Single submitter
- DSCAML1 p.Pro357Arg Uncertain significance Single submitter
- DSCAML1 p.Pro891Leu Uncertain significance Single submitter
- DSCAML1 p.Ser1397Trp Uncertain significance Single submitter
- DSCAML1 p.Ser1412Phe Uncertain significance Single submitter
- DSCAML1 p.Ser1480Cys Uncertain significance Single submitter
- DSCAML1 p.Ser375Leu Uncertain significance Single submitter
- DSCAML1 p.Ser535Phe Conflicting Single submitter
- DSCAML1 p.Ser588Arg Uncertain significance Single submitter
- DSCAML1 p.Ser915Gly Uncertain significance Single submitter
- DSCAML1 p.Ser936Pro Uncertain significance Single submitter
- DSCAML1 p.Thr1545Met Uncertain significance Single submitter
- DSCAML1 p.Trp238Cys Uncertain significance Single submitter
- DSCAML1 p.Tyr1170Cys Uncertain significance Single submitter
- DSCAML1 p.Tyr1547His Uncertain significance Single submitter
- DSCAML1 p.Tyr1571Cys Uncertain significance Single submitter
- DSCAML1 p.Tyr204His Uncertain significance Single submitter
- DSCAML1 p.Tyr614Cys Uncertain significance Single submitter
- DSCAML1 p.Val1307Ala Uncertain significance Single submitter
- DSCAML1 p.Val528Phe Uncertain significance Single submitter
-
DSCAML1 p.Asp714Gly
Uncertain significance
No assertion criteria
prostate cancer
All DSCAML1 variants
Conflicting classifications of pathogenicity 4
- c.-134C>T Single submitter
- p.Lys720Arg Single submitter ⚠
- p.Ser535Phe Single submitter ⚠
- p.Val411Ile Single submitter Abnormal brain morphology ⚠
Benign 62
- c.2785+11G>A Multiple submitters
- c.3413-5G>A Multiple submitters
- c.3709-4G>A Multiple submitters
- c.4243+20C>T Multiple submitters
- c.4877-9G>A Multiple submitters
- c.511+10G>A Multiple submitters
- c.5180-12C>T Multiple submitters
- p.Ala1978Gly Multiple submitters
- p.Ala955= Multiple submitters
- p.Arg1881= Multiple submitters
- p.Arg364= Multiple submitters
- p.Asn673= Multiple submitters
- p.Cys1920= Multiple submitters
- p.Gln1067= Multiple submitters
- p.Gln1674= Multiple submitters
- p.His172Asn Multiple submitters
- p.His316= Multiple submitters
- p.Leu1379= Multiple submitters
- p.Lys1446Glu Multiple submitters
- p.Phe1416= Multiple submitters
- p.Pro1231= Multiple submitters
- p.Pro226= Multiple submitters
- p.Pro435= Multiple submitters
- p.Pro606= Multiple submitters
- p.Ser1079= Multiple submitters
- p.Ser1786= Multiple submitters
- p.Ser250= Multiple submitters
- p.Ser289= Multiple submitters
- p.Thr1368= Multiple submitters
- p.Thr1713= Multiple submitters
- p.Thr326= Multiple submitters
- c.1214-18G>A Single submitter
- c.2360-3dup Single submitter
- c.2360-6C>T Single submitter
- c.2560-9G>A Single submitter
- c.2954-14G>A Single submitter
- c.3025-11C>T Single submitter
- c.3025-11dup Single submitter
- c.3266-6del Single submitter
- c.3569-16C>A Single submitter
- c.4244-4G>A Single submitter
- c.4433-25TC[7] Single submitter
- c.5026+17A>C Single submitter
- c.5027-12T>C Single submitter
- c.5180-10G>A Single submitter
- c.5687-14C>T Single submitter
- c.-129G>T Single submitter
- p.Ala607= Single submitter
- p.Arg1071= Single submitter
- p.Asn525= Single submitter
- p.Gly1959= Single submitter
- p.His1475= Single submitter
- p.His794Tyr Single submitter
- p.Ile1282= Single submitter
- p.Leu2028= Single submitter
- p.Pro89= Single submitter
- p.Ser1436= Single submitter
- p.Ser660= Single submitter
- p.Thr1147= Single submitter
- p.Val355Leu Single submitter
- c.*5C>G No assertion criteria DSCAML1-related disorder
- c.*5del No assertion criteria DSCAML1-related disorder
Benign/Likely benign 3
- p.Phe387= Multiple submitters
- p.Phe602= Multiple submitters
- p.Pro1921= Multiple submitters
Likely benign 592
Showing the top 300 by review status; the full set is in the sitemap.
- c.3266-10C>A Multiple submitters
- c.3980+9C>T Multiple submitters
- p.Ala1963= Multiple submitters
- p.Ala2043Thr Multiple submitters
- p.Gly51= Multiple submitters
- p.Thr352= Multiple submitters
- p.Thr918= Multiple submitters
- p.Tyr1037= Multiple submitters
- p.Tyr1744= Multiple submitters
- c.1213+10G>C Single submitter
- c.1213+12C>T Single submitter
- c.1213+13G>A Single submitter
- c.1214-11G>A Single submitter
- c.1214-12C>T Single submitter
- c.1214-18G>T Single submitter
- c.1214-7C>A Single submitter
- c.1511-18C>G Single submitter
- c.1511-34CTC[6] Single submitter
- c.1783+14A>G Single submitter
- c.1783+7C>G Single submitter
- c.1783+9C>G Single submitter
- c.1784-14G>A Single submitter
- c.1784-15C>T Single submitter
- c.1784-17C>T Single submitter
- c.1784-8C>T Single submitter
- c.1784-9C>G Single submitter
- c.2062+10dup Single submitter
- c.2062+14G>A Single submitter
- c.2062+17C>T Single submitter
- c.2063-12C>T Single submitter
- c.2063-9T>A Single submitter
- c.2182+16A>G Single submitter
- c.2183-12G>T Single submitter
- c.2359+14C>T Single submitter
- c.2359+19C>T Single submitter
- c.2359+20G>A Single submitter
- c.2360-13C>T Single submitter
- c.2360-20T>C Single submitter
- c.2360-5C>T Single submitter
- c.2559+14C>T Single submitter
- c.2559+8C>T Single submitter
- c.2560-12G>A Single submitter
- c.2560-15C>T Single submitter
- c.2560-19C>T Single submitter
- c.2560-20C>G Single submitter
- c.2560-8T>C Single submitter
- c.2657-10C>T Single submitter
- c.2657-19C>G Single submitter
- c.2657-9G>A Single submitter
- c.2785+11G>T Single submitter
- c.2785+15A>G Single submitter
- c.2785+7G>A Single submitter
- c.2786-13G>A Single submitter
- c.2786-16G>A Single submitter
- c.2953+10T>C Single submitter
- c.2953+12A>C Single submitter
- c.2953+14C>G Single submitter
- c.2954-12T>C Single submitter
- c.2954-15C>G Single submitter
- c.2954-15C>T Single submitter
- c.2954-6G>A Single submitter
- c.3024+10T>C Single submitter
- c.3024+18A>G Single submitter
- c.3025-20C>T Single submitter
- c.3266-12T>C Single submitter
- c.3266-13C>T Single submitter
- c.3412+9G>T Single submitter
- c.3413-11G>T Single submitter
- c.3413-16T>C Single submitter
- c.3413-9C>G Single submitter
- c.3568+13C>T Single submitter
- c.3568+17C>T Single submitter
- c.3569-11T>A Single submitter
- c.3569-15C>T Single submitter
- c.3569-4T>C Single submitter
- c.3569-6G>C Single submitter
- c.364+9C>G Single submitter
- c.365-4G>C Single submitter
- c.3708+10T>C Single submitter
- c.3708+9G>T Single submitter
- c.3709-17_3709-16del Single submitter
- c.3709-17T>G Single submitter
- c.3709-5C>G Single submitter
- c.3709-5C>T Single submitter
- c.3709-9G>A Single submitter
- c.3862+18G>A Single submitter
- c.3863-5T>C Single submitter
- c.3863-7C>T Single submitter
- c.3980+10G>A Single submitter
- c.3980+10G>T Single submitter
- c.3980+11G>A Single submitter
- c.3981-11G>A Single submitter
- c.3981-12C>T Single submitter
- c.3981-15C>T Single submitter
- c.3981-20C>T Single submitter
- c.4145-11T>C Single submitter
- c.4145-15G>A Single submitter
- c.4145-18G>A Single submitter
- c.4145-19G>A Single submitter
- c.4145-4A>G Single submitter
- c.4145-7C>T Single submitter
- c.4243+11G>A Single submitter
- c.4243+14T>C Single submitter
- c.4243+20C>A Single submitter
- c.4243+8G>C Single submitter
- c.4244-5C>T Single submitter
- c.4244-6C>T Single submitter
- c.4244-8C>T Single submitter
- c.4432+20G>A Single submitter
- c.4433-11C>T Single submitter
- c.4433-12C>G Single submitter
- c.4433-17T>C Single submitter
- c.4433-20C>G Single submitter
- c.4433-25TC[3] Single submitter
- c.46+13C>T Single submitter
- c.46+14G>A Single submitter
- c.46+17C>T Single submitter
- c.46+18G>C Single submitter
- c.46+18G>T Single submitter
- c.46+19G>C Single submitter
- c.46+7C>T Single submitter
- c.46+8C>T Single submitter
- c.47-11C>T Single submitter
- c.47-15T>C Single submitter
- c.47-17C>T Single submitter
- c.47-8T>C Single submitter
- c.4720+7C>T Single submitter
- c.4720+8G>A Single submitter
- c.4721-12G>T Single submitter
- c.4721-16C>A Single submitter
- c.4907+10A>G Single submitter
- c.4907+11C>A Single submitter
- c.4907+12C>T Single submitter
- c.4907+8T>C Single submitter
- c.5026+19A>G Single submitter
- c.5027-12T>G Single submitter
- c.511+10G>C Single submitter
- c.511+11T>C Single submitter
- c.511+14C>T Single submitter
- c.511+15G>A Single submitter
- c.511+7A>C Single submitter
- c.511+8G>A Single submitter
- c.511+9C>T Single submitter
- c.512-10G>A Single submitter
- c.512-14del Single submitter
- c.512-17C>T Single submitter
- c.5179+14C>G Single submitter
- c.5179+14C>T Single submitter
- c.5179+17G>C Single submitter
- c.5180-10_5180-9del Single submitter
- c.5180-16G>A Single submitter
- c.5180-9T>C Single submitter
- c.5374+11G>A Single submitter
- c.5374+9A>G Single submitter
- c.5375-12T>C Single submitter
- c.5375-4C>T Single submitter
- c.5686+12G>A Single submitter
- c.5686+15C>T Single submitter
- c.5686+18C>A Single submitter
- c.5686+18C>T Single submitter
- c.5687-16G>A Single submitter
- c.5687-9_5687-8del Single submitter
- c.658+10A>G Single submitter
- c.658+11G>A Single submitter
- c.658+19G>A Single submitter
- c.659-11del Single submitter
- c.659-19G>A Single submitter
- c.659-19G>T Single submitter
- c.937+13A>G Single submitter
- c.937+15C>T Single submitter
- c.937+7C>T Single submitter
- c.937+7del Single submitter
- c.937+7dup Single submitter
- c.938-20G>A Single submitter
- c.938-24_938-13del Single submitter
- c.938-6G>A Single submitter
- c.938-8C>T Single submitter
- c.-121G>A Single submitter
- c.-133G>A Single submitter
- c.-133G>C Single submitter
- c.-22G>C Single submitter
- c.-64G>A Single submitter
- c.-67G>C Single submitter
- c.-76C>G Single submitter
- c.-88C>A Single submitter
- c.-91G>A Single submitter
- c.-96_-91del Single submitter
- p.Ala1009= Single submitter
- p.Ala1068= Single submitter
- p.Ala109= Single submitter
- p.Ala1267= Single submitter
- p.Ala1271= Single submitter
- p.Ala1318= Single submitter
- p.Ala142= Single submitter
- p.Ala1557= Single submitter
- p.Ala1755= Single submitter
- p.Ala1759= Single submitter
- p.Ala1785= Single submitter
- p.Ala1804= Single submitter
- p.Ala1814= Single submitter
- p.Ala1852= Single submitter
- p.Ala1852Thr Single submitter
- p.Ala1879= Single submitter
- p.Ala1960= Single submitter
- p.Ala1964= Single submitter
- p.Ala1978= Single submitter
- p.Ala1981= Single submitter
- p.Ala1984= Single submitter
- p.Ala2002= Single submitter
- p.Ala2013= Single submitter
- p.Ala2043= Single submitter
- p.Ala239= Single submitter
- p.Ala430= Single submitter
- p.Ala487= Single submitter
- p.Ala494= Single submitter
- p.Ala498= Single submitter
- p.Ala50= Single submitter
- p.Ala592= Single submitter
- p.Ala675= Single submitter
- p.Ala805= Single submitter
- p.Ala91= Single submitter
- p.Arg1127= Single submitter
- p.Arg1149= Single submitter
- p.Arg1257= Single submitter
- p.Arg130= Single submitter
- p.Arg1340= Single submitter
- p.Arg1340Gln Single submitter
- p.Arg1388= Single submitter
- p.Arg1477= Single submitter
- p.Arg1550= Single submitter
- p.Arg1552= Single submitter
- p.Arg1613= Single submitter
- p.Arg1620= Single submitter
- p.Arg1661= Single submitter
- p.Arg1723= Single submitter
- p.Arg1868His Single submitter
- p.Arg1892= Single submitter
- p.Arg2012= Single submitter
- p.Arg258= Single submitter
- p.Arg390= Single submitter
- p.Arg450= Single submitter
- p.Arg450Trp Single submitter
- p.Arg455= Single submitter
- p.Arg478= Single submitter
- p.Arg488= Single submitter
- p.Arg520= Single submitter
- p.Arg74= Single submitter
- p.Arg833= Single submitter
- p.Arg836= Single submitter
- p.Asn1016= Single submitter
- p.Asn1029= Single submitter
- p.Asn107= Single submitter
- p.Asn1096= Single submitter
- p.Asn1218= Single submitter
- p.Asn1275= Single submitter
- p.Asn140= Single submitter
- p.Asn1408= Single submitter
- p.Asn1424= Single submitter
- p.Asn1849= Single submitter
- p.Asn1851= Single submitter
- p.Asn1884= Single submitter
- p.Asn212= Single submitter
- p.Asn29= Single submitter
- p.Asn368= Single submitter
- p.Asn457= Single submitter
- p.Asn471= Single submitter
- p.Asn664= Single submitter
- p.Asn697= Single submitter
- p.Asn771= Single submitter
- p.Asn79= Single submitter
- p.Asn844= Single submitter
- p.Asn93= Single submitter
- p.Asp1105= Single submitter
- p.Asp1175= Single submitter
- p.Asp1337= Single submitter
- p.Asp1385= Single submitter
- p.Asp1686= Single submitter
- p.Asp1842= Single submitter
- p.Asp186= Single submitter
- p.Asp1878= Single submitter
- p.Asp191= Single submitter
- p.Asp358= Single submitter
- p.Asp444= Single submitter
- p.Asp451= Single submitter
- p.Asp463= Single submitter
- p.Asp479= Single submitter
- p.Asp563= Single submitter
- p.Asp633= Single submitter
- p.Asp65= Single submitter
- p.Asp69= Single submitter
- p.Asp714= Single submitter
- p.Asp776= Single submitter
- p.Asp846= Single submitter
- p.Asp889= Single submitter
- p.Asp912= Single submitter
- p.Cys1699= Single submitter
- p.Cys336= Single submitter
- p.Cys526= Single submitter
- p.Cys669= Single submitter
- p.Gln1036= Single submitter
Uncertain significance 851
Showing the top 300 by review status; the full set is in the sitemap.
- c.-101C>T Multiple submitters
- c.-17T>C Multiple submitters
- c.-23G>A Multiple submitters
- c.-44C>T Multiple submitters
- c.-51G>T Multiple submitters
- c.-57G>A Multiple submitters
- c.-87G>A Multiple submitters
- p.Ala1060Ser Multiple submitters ⚠
- p.Ala1331Thr Multiple submitters ⚠
- p.Ala1680Thr Multiple submitters ⚠
- p.Ala1827Thr Multiple submitters ⚠
- p.Ala1928Thr Multiple submitters ⚠
- p.Ala1962Thr Multiple submitters ⚠
- p.Ala1964Gly Multiple submitters ⚠
- p.Ala1967Asp Multiple submitters ⚠
- p.Ala1984Gly Multiple submitters ⚠
- p.Ala1984Val Multiple submitters ⚠
- p.Ala2001Thr Multiple submitters ⚠
- p.Ala2002Asp Multiple submitters ⚠
- p.Ala2002Val Multiple submitters ⚠
- p.Ala2005Val Multiple submitters ⚠
- p.Ala2045Val Multiple submitters ⚠
- p.Ala256Thr Multiple submitters ⚠
- p.Ala268Pro Multiple submitters ⚠
- p.Ala78Val Multiple submitters ⚠
- p.Ala840Thr Multiple submitters ⚠
- p.Arg1020Gln Multiple submitters ⚠
- p.Arg1071Trp Multiple submitters ⚠
- p.Arg1098Gln Multiple submitters ⚠
- p.Arg1149Gln Multiple submitters ⚠
- p.Arg1151Trp Multiple submitters ⚠
- p.Arg1155Gln Multiple submitters ⚠
- p.Arg1308Gln Multiple submitters ⚠
- p.Arg1388His Multiple submitters ⚠
- p.Arg1477Gln Multiple submitters ⚠
- p.Arg1529Gln Multiple submitters ⚠
- p.Arg1613Cys Multiple submitters
- p.Arg1613His Multiple submitters ⚠
- p.Arg1613Ser Multiple submitters ⚠
- p.Arg1654Gln Multiple submitters ⚠
- p.Arg1743Gln Multiple submitters ⚠
- p.Arg1743Trp Multiple submitters ⚠
- p.Arg1760His Multiple submitters ⚠
- p.Arg1813Gln Multiple submitters ⚠
- p.Arg1881Trp Multiple submitters ⚠
- p.Arg1917Cys Multiple submitters
- p.Arg1926Cys Multiple submitters ⚠
- p.Arg1942His Multiple submitters ⚠
- p.Arg1972Ser Multiple submitters ⚠
- p.Arg197His Multiple submitters ⚠
- p.Arg258His Multiple submitters ⚠
- p.Arg264Gln Multiple submitters ⚠
- p.Arg271His Multiple submitters ⚠
- p.Arg285Gln Multiple submitters ⚠
- p.Arg350Cys Multiple submitters ⚠
- p.Arg350His Multiple submitters ⚠
- p.Arg364Cys Multiple submitters ⚠
- p.Arg364His Multiple submitters ⚠
- p.Arg488Gln Multiple submitters ⚠
- p.Arg512Gln Multiple submitters ⚠
- p.Arg520Gln Multiple submitters ⚠
- p.Arg813Gln Multiple submitters ⚠
- p.Arg816Leu Multiple submitters ⚠
- p.Arg896Gln Multiple submitters ⚠
- p.Arg901Gln Multiple submitters ⚠
- p.Arg970Cys Multiple submitters ⚠
- p.Arg970His Multiple submitters ⚠
- p.Asn420Lys Multiple submitters ⚠
- p.Asn939Ser Multiple submitters ⚠
- p.Asp1718Asn Multiple submitters ⚠
- p.Asp283Asn Multiple submitters ⚠
- p.Asp65Gly Multiple submitters
- p.Asp987Asn Multiple submitters ⚠
- p.Gln393His Multiple submitters ⚠
- p.Glu1427Lys Multiple submitters ⚠
- p.Glu2029Lys Multiple submitters ⚠
- p.Glu760Val Multiple submitters ⚠
- p.Gly1032Ser Multiple submitters ⚠
- p.Gly1476Arg Multiple submitters ⚠
- p.Gly1560Ser Multiple submitters ⚠
- p.Gly1586Arg Multiple submitters ⚠
- p.Gly1596Ser Multiple submitters ⚠
- p.Gly1774Val Multiple submitters ⚠
- p.Gly181Arg Multiple submitters ⚠
- p.Gly2014Arg Multiple submitters ⚠
- p.Gly2034Arg Multiple submitters ⚠
- p.Gly2042Arg Multiple submitters ⚠
- p.Gly206Ala Multiple submitters ⚠
- p.Gly206Arg Multiple submitters ⚠
- p.Gly327Ser Multiple submitters ⚠
- p.Gly464Ser Multiple submitters ⚠
- p.Gly519Arg Multiple submitters ⚠
- p.Gly845Ser Multiple submitters ⚠
- p.His1943Gln Multiple submitters ⚠
- p.Ile1226Val Multiple submitters ⚠
- p.Ile1413Met Multiple submitters ⚠
- p.Ile1657Val Multiple submitters ⚠
- p.Ile1930Met Multiple submitters ⚠
- p.Ile225Leu Multiple submitters ⚠
- p.Ile448Thr Multiple submitters ⚠
- p.Ile744Asn Multiple submitters ⚠
- p.Ile895Ser Multiple submitters ⚠
- p.Leu1341Ile Multiple submitters ⚠
- p.Leu147Pro Multiple submitters ⚠
- p.Leu403Phe Multiple submitters ⚠
- p.Lys594Asn Multiple submitters ⚠
- p.Met2020Ile Multiple submitters ⚠
- p.Met310Leu Multiple submitters ⚠
- p.Met461Ile Multiple submitters ⚠
- p.Phe1227Leu Multiple submitters ⚠
- p.Pro1214Ala Multiple submitters ⚠
- p.Pro1245Arg Multiple submitters
- p.Pro1902Leu Multiple submitters ⚠
- p.Pro1979Leu Multiple submitters ⚠
- p.Pro1980Gln Multiple submitters ⚠
- p.Pro1986Ser Multiple submitters ⚠
- p.Pro1988Leu Multiple submitters ⚠
- p.Pro2011Ser Multiple submitters ⚠
- p.Pro435Leu Multiple submitters ⚠
- p.Pro437Ser Multiple submitters ⚠
- p.Pro718Gln Multiple submitters ⚠
- p.Pro891Ala Multiple submitters ⚠
- p.Pro89Ala Multiple submitters ⚠
- p.Ser1330Leu Multiple submitters ⚠
- p.Ser1421Leu Multiple submitters ⚠
- p.Ser1703Phe Multiple submitters
- p.Ser1739Gly Multiple submitters ⚠
- p.Ser250Leu Multiple submitters ⚠
- p.Ser426Leu Multiple submitters
- p.Ser964Cys Multiple submitters
- p.Thr1148Met Multiple submitters ⚠
- p.Thr1243Arg Multiple submitters ⚠
- p.Thr1362Met Multiple submitters ⚠
- p.Thr1489Ala Multiple submitters ⚠
- p.Thr1494Met Multiple submitters
- p.Thr1776Met Multiple submitters ⚠
- p.Thr1968Ile Multiple submitters ⚠
- p.Thr438Met Multiple submitters ⚠
- p.Tyr1571His Multiple submitters ⚠
- p.Val1040Met Multiple submitters ⚠
- p.Val1108Ile Multiple submitters ⚠
- p.Val1122Ile Multiple submitters ⚠
- p.Val1177Ile Multiple submitters Marfanoid habitus and intellectual disability ⚠
- p.Val1200Ile Multiple submitters ⚠
- p.Val1299Met Multiple submitters ⚠
- p.Val1353Ala Multiple submitters ⚠
- p.Val1417Leu Multiple submitters ⚠
- p.Val1461Met Multiple submitters ⚠
- p.Val158Ile Multiple submitters ⚠
- p.Val1606Met Multiple submitters ⚠
- p.Val1769Met Multiple submitters ⚠
- p.Val1922Met Multiple submitters ⚠
- p.Val41Met Multiple submitters ⚠
- p.Val43Gly Multiple submitters ⚠
- p.Val449Met Multiple submitters ⚠
- p.Val589Ile Multiple submitters ⚠
- p.Val773Ile Multiple submitters ⚠
- c.11C>A Single submitter
- c.2062+6C>T Single submitter
- c.2063-9_2071del Single submitter
- c.2183-20T>C Single submitter
- c.2359+3G>A Single submitter
- c.2360-18T>A Single submitter
- c.2360-3C>G Single submitter
- c.2360-3C>T Single submitter
- c.26G>A Single submitter
- c.2785+12_2785+13delinsTA Single submitter
- c.2785+5G>T Single submitter
- c.364+5G>A Single submitter
- c.3708+3A>G Single submitter
- c.3980+3G>A Single submitter
- c.3980+4T>A Single submitter
- c.3980+4T>C Single submitter
- c.4244-4_4244-3delinsAA Single submitter
- c.4432+3G>A Single submitter
- c.4433-10G>A Single submitter
- c.4876+3G>C Single submitter
- c.4876+3G>T Single submitter
- c.4876+6G>A Single submitter
- c.5179+3A>G Single submitter
- c.5179+4C>T Single submitter
- c.5179+5G>A Single submitter
- c.5179+6C>T Single submitter
- c.5180-16_5181dup Single submitter
- c.5374+3G>A Single submitter
- c.5375-1_5377del Single submitter
- c.5686+3G>A Single submitter
- c.658+6G>A Single submitter
- c.937+3G>A Single submitter
- c.937+4A>G Single submitter
- c.-101C>A Single submitter
- c.-105G>C Single submitter
- c.-109_-108delinsTT Single submitter
- c.-117A>G Single submitter
- c.-11C>G Single submitter
- c.-124dup Single submitter
- c.-125G>T Single submitter
- c.-134C>G Single submitter
- c.-137A>C Single submitter
- c.-21A>G Single submitter
- c.-27C>T Single submitter
- c.-30C>T Single submitter
- c.-32C>T Single submitter
- c.-362-16426_-362-16400del Single submitter
- c.-48C>T Single submitter
- c.-50C>T Single submitter
- c.-56C>T Single submitter
- c.-59G>A Single submitter
- c.-60G>A Single submitter
- c.-68G>A Single submitter
- c.-68G>C Single submitter
- c.-69C>T Single submitter
- c.-77G>A Single submitter
- c.-78C>T Single submitter
- c.-81G>A Single submitter
- c.-81G>C Single submitter
- c.-83G>A Single submitter
- c.-98C>T Single submitter
- p.Ala1044Thr Single submitter ⚠
- p.Ala1060Thr Single submitter ⚠
- p.Ala1253Gly Single submitter ⚠
- p.Ala1253Ser Single submitter ⚠
- p.Ala1271Ser Single submitter ⚠
- p.Ala1320Val Single submitter ⚠
- p.Ala1352Thr Single submitter ⚠
- p.Ala142Val Single submitter ⚠
- p.Ala1553Ser Single submitter ⚠
- p.Ala1567Thr Single submitter ⚠
- p.Ala1602Gly Single submitter ⚠
- p.Ala1680Val Single submitter ⚠
- p.Ala1812Thr Single submitter
- p.Ala1812Val Single submitter
- p.Ala1827Val Single submitter
- p.Ala1879Ser Single submitter ⚠
- p.Ala1879Val Single submitter ⚠
- p.Ala1914Gly Single submitter ⚠
- p.Ala192Thr Single submitter ⚠
- p.Ala1941Thr Single submitter ⚠
- p.Ala1949Thr Single submitter ⚠
- p.Ala1960Asp Single submitter ⚠
- p.Ala1960Ser Single submitter ⚠
- p.Ala1960Val Single submitter ⚠
- p.Ala1964Thr Single submitter ⚠
- p.Ala1967Val Single submitter ⚠
- p.Ala1975Thr Single submitter ⚠
- p.Ala1975Val Single submitter ⚠
- p.Ala1978Asp Single submitter ⚠
- p.Ala1978Pro Single submitter ⚠
- p.Ala1981fs Single submitter
- p.Ala1981Thr Single submitter ⚠
- p.Ala1984Asp Single submitter ⚠
- p.Ala1984Thr Single submitter ⚠
- p.Ala1987Val Single submitter ⚠
- p.Ala1998Thr Single submitter ⚠
- p.Ala2005Asp Single submitter ⚠
- p.Ala2013Thr Single submitter ⚠
- p.Ala2043Val Single submitter ⚠
- p.Ala2045Ser Single submitter ⚠
- p.Ala2045Thr Single submitter ⚠
- p.Ala249Ser Single submitter ⚠
- p.Ala249Thr Single submitter ⚠
- p.Ala268Val Single submitter ⚠
- p.Ala337Ser Single submitter ⚠
- p.Ala337Thr Single submitter ⚠
- p.Ala337Val Single submitter ⚠
- p.Ala395Ser Single submitter ⚠
- p.Ala395Thr Single submitter ⚠
- p.Ala430Val Single submitter ⚠
- p.Ala431Val Single submitter ⚠
- p.Ala434Thr Single submitter ⚠
- p.Ala487Val Single submitter ⚠
- p.Ala50Val Single submitter ⚠
- p.Ala510Pro Single submitter ⚠
- p.Ala56Val Single submitter ⚠
- p.Ala607Thr Single submitter ⚠
- p.Ala607Val Single submitter ⚠
- p.Ala62Val Single submitter ⚠
- p.Ala674Thr Single submitter ⚠
- p.Ala676Val Single submitter ⚠
- p.Ala706Val Single submitter ⚠
- p.Ala769Ser Single submitter ⚠
- p.Ala800Ser Single submitter ⚠
- p.Ala800Thr Single submitter
- p.Ala805Gly Single submitter ⚠
- p.Ala805Val Single submitter ⚠
- p.Ala857Ser Single submitter ⚠
- p.Ala857Thr Single submitter ⚠
- p.Ala900Ser Single submitter ⚠
- p.Ala900Val Single submitter ⚠
- p.Ala91Ser Single submitter ⚠
- p.Ala91Thr Single submitter ⚠
- p.Ala984= Single submitter
- p.Arg1071Gln Single submitter ⚠
- p.Arg1149Trp Single submitter ⚠
- p.Arg1151Gln Single submitter ⚠
- p.Arg1151Gly Single submitter ⚠
- p.Arg1178Cys Single submitter ⚠
- p.Arg118His Single submitter ⚠
- p.Arg1222Cys Single submitter
- p.Arg1222His Single submitter ⚠