DNAH6 — 742 ClinVar variants
All ClinVar germline DNAH6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 336 flagged for review →
1 Likely pathogenic · 154 Benign · 5 Benign/Likely benign · 47 Likely benign · 535 Uncertain significance
Full DNAH6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 336
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 lean, ClinVar uncertain 302
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 302
- DNAH6 p.Arg3153Cys Uncertain significance Multiple submitters
-
DNAH6 p.Glu3799Lys
Uncertain significance
Multiple submitters
DNAH6-related disorder
- DNAH6 p.Leu3494Ile Uncertain significance Multiple submitters
- DNAH6 p.Ala1015Thr Uncertain significance Single submitter
- DNAH6 p.Ala101Thr Uncertain significance Single submitter
- DNAH6 p.Ala1069Gly Uncertain significance Single submitter
- DNAH6 p.Ala1364Val Uncertain significance Single submitter
- DNAH6 p.Ala1425Val Uncertain significance Single submitter
- DNAH6 p.Ala1441Thr Uncertain significance Single submitter
- DNAH6 p.Ala1550Thr Uncertain significance Single submitter
- DNAH6 p.Ala1818Pro Uncertain significance Single submitter
- DNAH6 p.Ala2106Thr Uncertain significance Single submitter
- DNAH6 p.Ala2261Thr Uncertain significance Single submitter
- DNAH6 p.Ala2289Thr Uncertain significance Single submitter
- DNAH6 p.Ala2354Thr Uncertain significance Single submitter
- DNAH6 p.Ala2361Glu Uncertain significance Single submitter
- DNAH6 p.Ala2385Thr Uncertain significance Single submitter
- DNAH6 p.Ala240Gly Uncertain significance Single submitter
- DNAH6 p.Ala2776Thr Uncertain significance Single submitter
- DNAH6 p.Ala3134Ser Uncertain significance Single submitter
- DNAH6 p.Ala315Thr Uncertain significance Single submitter
- DNAH6 p.Ala3478Thr Uncertain significance Single submitter
- DNAH6 p.Ala3624Ser Uncertain significance Single submitter
- DNAH6 p.Ala3924Thr Uncertain significance Single submitter
- DNAH6 p.Ala3947Thr Uncertain significance Single submitter
- DNAH6 p.Ala540Ser Uncertain significance Single submitter
- DNAH6 p.Ala585Val Uncertain significance Single submitter
- DNAH6 p.Ala660Thr Uncertain significance Single submitter
- DNAH6 p.Ala836Thr Uncertain significance Single submitter
- DNAH6 p.Arg1147Gln Uncertain significance Single submitter
- DNAH6 p.Arg1331Gly Uncertain significance Single submitter
- DNAH6 p.Arg136Trp Uncertain significance Single submitter
- DNAH6 p.Arg184Pro Uncertain significance Single submitter
- DNAH6 p.Arg194Cys Uncertain significance Single submitter
- DNAH6 p.Arg194Leu Uncertain significance Single submitter
- DNAH6 p.Arg2134Lys Uncertain significance Single submitter
- DNAH6 p.Arg2173Ser Uncertain significance Single submitter
- DNAH6 p.Arg2323Lys Uncertain significance Single submitter
- DNAH6 p.Arg256Gln Uncertain significance Single submitter
- DNAH6 p.Arg2651His Uncertain significance Single submitter
- DNAH6 p.Arg2659Gln Uncertain significance Single submitter
- DNAH6 p.Arg2906His Uncertain significance Single submitter
- DNAH6 p.Arg290Cys Uncertain significance Single submitter
- DNAH6 p.Arg290His Uncertain significance Single submitter
- DNAH6 p.Arg313Gln Uncertain significance Single submitter
- DNAH6 p.Arg3208Gln Uncertain significance Single submitter
- DNAH6 p.Arg3380His Uncertain significance Single submitter
- DNAH6 p.Arg35Ser Uncertain significance Single submitter
- DNAH6 p.Arg380Cys Uncertain significance Single submitter
- DNAH6 p.Arg380His Uncertain significance Single submitter
- DNAH6 p.Arg442His Uncertain significance Single submitter
- DNAH6 p.Arg473Gln Uncertain significance Single submitter
- DNAH6 p.Arg473Gly Uncertain significance Single submitter
- DNAH6 p.Arg4Trp Uncertain significance Single submitter
- DNAH6 p.Arg54Thr Uncertain significance Single submitter
- DNAH6 p.Arg612Cys Uncertain significance Single submitter
- DNAH6 p.Arg612His Uncertain significance Single submitter
- DNAH6 p.Arg677Ser Uncertain significance Single submitter
- DNAH6 p.Arg700Cys Uncertain significance Single submitter
- DNAH6 p.Arg700His Uncertain significance Single submitter
- DNAH6 p.Arg787Gln Uncertain significance Single submitter
- DNAH6 p.Arg858His Uncertain significance Single submitter
- DNAH6 p.Arg95Gln Uncertain significance Single submitter
- DNAH6 p.Asn1166Thr Uncertain significance Single submitter
- DNAH6 p.Asn1167Ser Uncertain significance Single submitter
- DNAH6 p.Asn182Lys Uncertain significance Single submitter
- DNAH6 p.Asn246Ser Uncertain significance Single submitter
- DNAH6 p.Asn2784Ser Uncertain significance Single submitter
- DNAH6 p.Asn28His Uncertain significance Single submitter
- DNAH6 p.Asn28Ser Uncertain significance Single submitter
- DNAH6 p.Asn304Thr Uncertain significance Single submitter
- DNAH6 p.Asn3357Ser Uncertain significance Single submitter
- DNAH6 p.Asn3437Thr Uncertain significance Single submitter
- DNAH6 p.Asn3727Ser Uncertain significance Single submitter
- DNAH6 p.Asn408Ser Uncertain significance Single submitter
- DNAH6 p.Asn820Asp Uncertain significance Single submitter
- DNAH6 p.Asn847Ser Uncertain significance Single submitter
- DNAH6 p.Asp1010Asn Uncertain significance Single submitter
- DNAH6 p.Asp1030Asn Uncertain significance Single submitter
- DNAH6 p.Asp1500Glu Uncertain significance Single submitter
- DNAH6 p.Asp3059Tyr Uncertain significance Single submitter
- DNAH6 p.Asp3059Val Uncertain significance Single submitter
- DNAH6 p.Asp3158Asn Uncertain significance Single submitter
- DNAH6 p.Asp3469Val Uncertain significance Single submitter
- DNAH6 p.Asp3588Ala Uncertain significance Single submitter
- DNAH6 p.Asp3780Gly Uncertain significance Single submitter
- DNAH6 p.Asp900Ala Uncertain significance Single submitter
- DNAH6 p.Cys1947Tyr Uncertain significance Single submitter
- DNAH6 p.Cys2329Gly Uncertain significance Single submitter
- DNAH6 p.Cys3020Tyr Uncertain significance Single submitter
- DNAH6 p.Gln1105Arg Uncertain significance Single submitter
- DNAH6 p.Gln1133Arg Uncertain significance Single submitter
- DNAH6 p.Gln133Arg Uncertain significance Single submitter
- DNAH6 p.Gln2423His Uncertain significance Single submitter
- DNAH6 p.Gln2622Arg Uncertain significance Single submitter
- DNAH6 p.Gln2684Arg Uncertain significance Single submitter
- DNAH6 p.Gln2858Arg Uncertain significance Single submitter
- DNAH6 p.Gln3023Arg Uncertain significance Single submitter
- DNAH6 p.Gln3282His Uncertain significance Single submitter
- DNAH6 p.Gln3534Lys Uncertain significance Single submitter
- DNAH6 p.Gln481Arg Uncertain significance Single submitter
- DNAH6 p.Gln827Arg Uncertain significance Single submitter
- DNAH6 p.Gln830His Uncertain significance Single submitter
- DNAH6 p.Glu1086Lys Uncertain significance Single submitter
- DNAH6 p.Glu1338Lys Uncertain significance Single submitter
- DNAH6 p.Glu1401Gly Uncertain significance Single submitter
- DNAH6 p.Glu2275Ala Uncertain significance Single submitter
- DNAH6 p.Glu2318Ala Uncertain significance Single submitter
- DNAH6 p.Glu253Lys Uncertain significance Single submitter
- DNAH6 p.Glu2559Lys Uncertain significance Single submitter
- DNAH6 p.Glu2680Lys Uncertain significance Single submitter
- DNAH6 p.Glu3216Gln Uncertain significance Single submitter
- DNAH6 p.Glu3216Val Uncertain significance Single submitter
- DNAH6 p.Glu3880Ala Uncertain significance Single submitter
- DNAH6 p.Glu43Lys Uncertain significance Single submitter
- DNAH6 p.Glu681Lys Uncertain significance Single submitter
- DNAH6 p.Glu717Gly Uncertain significance Single submitter
- DNAH6 p.Glu9Lys Uncertain significance Single submitter
- DNAH6 p.Gly1053Ser Uncertain significance Single submitter
- DNAH6 p.Gly1237Val Uncertain significance Single submitter
- DNAH6 p.Gly1645Val Uncertain significance Single submitter
- DNAH6 p.Gly1758Ser Uncertain significance Single submitter
- DNAH6 p.Gly2218Asp Uncertain significance Single submitter
- DNAH6 p.Gly2441Asp Uncertain significance Single submitter
- DNAH6 p.Gly2450Ser Uncertain significance Single submitter
- DNAH6 p.Gly3147Ser Uncertain significance Single submitter
- DNAH6 p.Gly3268Ala Uncertain significance Single submitter
- DNAH6 p.Gly3461Ala Uncertain significance Single submitter
- DNAH6 p.Gly3461Asp Uncertain significance Single submitter
- DNAH6 p.Gly3735Glu Uncertain significance Single submitter
-
DNAH6 p.Gly3753Asp
Uncertain significance
Single submitter
Abnormal spermatogenesis
- DNAH6 p.Gly539Ser Uncertain significance Single submitter
- DNAH6 p.His151Leu Uncertain significance Single submitter
- DNAH6 p.His173Arg Uncertain significance Single submitter
- DNAH6 p.His1874Tyr Uncertain significance Single submitter
- DNAH6 p.His1941Tyr Uncertain significance Single submitter
- DNAH6 p.His2483Arg Uncertain significance Single submitter
- DNAH6 p.His3480Leu Uncertain significance Single submitter
- DNAH6 p.His55Asn Uncertain significance Single submitter
- DNAH6 p.His84Leu Uncertain significance Single submitter
- DNAH6 p.His972Leu Uncertain significance Single submitter
- DNAH6 p.Ile1141Leu Uncertain significance Single submitter
- DNAH6 p.Ile1188Val Uncertain significance Single submitter
- DNAH6 p.Ile1391Thr Uncertain significance Single submitter
- DNAH6 p.Ile1391Val Uncertain significance Single submitter
- DNAH6 p.Ile1418Thr Uncertain significance Single submitter
- DNAH6 p.Ile1491Val Uncertain significance Single submitter
- DNAH6 p.Ile1537Val Uncertain significance Single submitter
- DNAH6 p.Ile1542Val Uncertain significance Single submitter
- DNAH6 p.Ile15Thr Uncertain significance Single submitter
Predictors split 34
The independent predictors disagree with each other — read with care.
- DNAH6 p.Glu2537Gln Benign Multiple submitters
- DNAH6 p.Ala3741Val Uncertain significance Single submitter
- DNAH6 p.Arg1208Gln Uncertain significance Single submitter
- DNAH6 p.Arg3273Ser Uncertain significance Single submitter
- DNAH6 p.Arg3890Cys Uncertain significance Single submitter
- DNAH6 p.Arg667Ser Uncertain significance Single submitter
- DNAH6 p.Arg743Trp Uncertain significance Single submitter
- DNAH6 p.Asn4086Asp Uncertain significance Single submitter
- DNAH6 p.Asp2014Asn Uncertain significance Single submitter
- DNAH6 p.Asp772Val Uncertain significance Single submitter
- DNAH6 p.Gln1463His Uncertain significance Single submitter
- DNAH6 p.Gln3142His Uncertain significance Single submitter
- DNAH6 p.Glu3425Lys Uncertain significance Single submitter
- DNAH6 p.Glu629Gly Uncertain significance Single submitter
- DNAH6 p.Glu872Lys Uncertain significance Single submitter
- DNAH6 p.Glu951Lys Uncertain significance Single submitter
- DNAH6 p.Leu2284Phe Uncertain significance Single submitter
- DNAH6 p.Leu3839Phe Uncertain significance Single submitter
- DNAH6 p.Met2168Leu Benign Single submitter
- DNAH6 p.Met2591Thr Uncertain significance Single submitter
- DNAH6 p.Met3553Ile Uncertain significance Single submitter
- DNAH6 p.Met512Arg Uncertain significance Single submitter
- DNAH6 p.Met757Thr Uncertain significance Single submitter
- DNAH6 p.Phe3244Leu Uncertain significance Single submitter
- DNAH6 p.Phe3883Leu Uncertain significance Single submitter
- DNAH6 p.Pro3656Ser Uncertain significance Single submitter
- DNAH6 p.Pro724Ser Uncertain significance Single submitter
- DNAH6 p.Ser3571Pro Uncertain significance Single submitter
- DNAH6 p.Thr3104Arg Uncertain significance Single submitter
- DNAH6 p.Thr515Arg Uncertain significance Single submitter
- DNAH6 p.Thr755Pro Uncertain significance Single submitter
- DNAH6 p.Tyr862His Uncertain significance Single submitter
- DNAH6 p.Val754Ala Uncertain significance Single submitter
-
DNAH6 p.Glu3503Gln
Uncertain significance
No assertion criteria
DNAH6-related disorder
All DNAH6 variants
Likely pathogenic 1
- p.Gly3575Arg Single submitter ciliary dyskinesia, primary, 45
Benign 154
- c.10206+103T>G Multiple submitters
- c.10343-3C>T Multiple submitters
- c.10865-70G>T Multiple submitters
- c.11239+34A>G Multiple submitters
- c.11359+104G>C Multiple submitters
- c.11359+5A>G Multiple submitters
- c.1186+99A>G Multiple submitters
- c.11998+139G>C Multiple submitters
- c.11998+151A>G Multiple submitters
- c.11998+164A>G Multiple submitters
- c.12150+22T>C Multiple submitters
- c.12150+49T>C Multiple submitters
- c.12150+70T>C Multiple submitters
- c.12373+146G>A Multiple submitters
- c.1316+132A>T Multiple submitters
- c.2076+16A>G Multiple submitters
- c.2077-98G>A Multiple submitters
- c.226-59A>C Multiple submitters
- c.2481+29A>C Multiple submitters
- c.2610+100G>A Multiple submitters
- c.2610+110G>A Multiple submitters
- c.2610+52G>A Multiple submitters
- c.2611-107A>G Multiple submitters
- c.2725-55C>T Multiple submitters
- c.3081+92G>A Multiple submitters
- c.3174+109T>C Multiple submitters
- c.3175-37T>C Multiple submitters
- c.3294+18T>C Multiple submitters
- c.4072-16T>C Multiple submitters
- c.4353+19G>A Multiple submitters
- c.4354-15C>T Multiple submitters
- c.4354-71T>C Multiple submitters
- c.4515+41T>A Multiple submitters
- c.4654-71C>T Multiple submitters
- c.5758-87G>A Multiple submitters
- c.5940+17T>C Multiple submitters
- c.6307-91T>A Multiple submitters
- c.6455-203T>C Multiple submitters
- c.6455-91G>A Multiple submitters
- c.6612+30G>A Multiple submitters
- c.662+51T>G Multiple submitters
- c.7063+89T>C Multiple submitters
- c.7064-20T>G Multiple submitters
- c.7138-94A>T Multiple submitters
- c.7525-80G>A Multiple submitters
- c.7677+43G>A Multiple submitters
- c.9543+15T>C Multiple submitters
- c.9543+94T>C Multiple submitters
- c.9611+77A>G Multiple submitters
- c.9972+78T>C Multiple submitters
- p.Ala1596= Multiple submitters
- p.Ala2908Thr Multiple submitters
- p.Ala3269= Multiple submitters
- p.Ala606= Multiple submitters
- p.Arg1331His Multiple submitters
- p.Arg4140= Multiple submitters
- p.Arg4140Gln Multiple submitters
- p.Asp1310= Multiple submitters
- p.Gln4097= Multiple submitters
- p.Gln849= Multiple submitters
- p.Glu2537Gln Multiple submitters ⚠
- p.Gly1694Ala Multiple submitters
- p.Gly1777= Multiple submitters
- p.Gly3848Ser Multiple submitters
- p.His55Tyr Multiple submitters
- p.Ile1537= Multiple submitters
- p.Ile3810= Multiple submitters
- p.Leu2124= Multiple submitters
- p.Leu262= Multiple submitters
- p.Leu3251= Multiple submitters
- p.Lys2859Arg Multiple submitters
- p.Met1232Val Multiple submitters
- p.Pro107= Multiple submitters
- p.Pro2030= Multiple submitters
- p.Pro3946= Multiple submitters
- p.Ser2268Asn Multiple submitters
- p.Ser291= Multiple submitters
- p.Ser4157= Multiple submitters
- p.Thr2451= Multiple submitters
- p.Tyr2119Cys Multiple submitters
- p.Val141Met Multiple submitters
- p.Val2100= Multiple submitters
- p.Val2550Ala Multiple submitters
- p.Val2898Ile Multiple submitters
- c.10342+220del Single submitter
- c.10343-157G>C Single submitter
- c.10512+118C>T Single submitter
- c.10512+200G>A Single submitter
- c.10513-183T>A Single submitter
- c.10704-186A>G Single submitter
- c.11239+217dup Single submitter
- c.11611+114A>G Single submitter
- c.1186+157G>A Single submitter
- c.11998+8C>T Single submitter
- c.11998+9G>A Single submitter
- c.12150+161A>G Single submitter
- c.12374-220_12374-219insAAG Single submitter
- c.1485+166T>C Single submitter
- c.1603-143G>A Single submitter
- c.1924+187T>C Single submitter
- c.2229+139C>G Single submitter
- c.2481+194dup Single submitter
- c.2482-202G>A Single submitter
- c.2611-153del Single submitter
- c.2724+198_2724+199insA Single submitter
- c.2725-144T>C Single submitter
- c.2725-221G>A Single submitter
- c.2869-187C>T Single submitter
- c.2869-198T>G Single submitter
- c.3082-130del Single submitter
- c.3175-216G>T Single submitter
- c.3294+156C>T Single submitter
- c.3294+177T>A Single submitter
- c.3294+185T>C Single submitter
- c.3573-126A>G Single submitter
- c.3573-133C>T Single submitter
- c.400-21dup Single submitter
- c.400-22_400-21dup Single submitter
- c.4516-209A>G Single submitter
- c.4653+187C>T Single submitter
- c.4654-128C>G Single submitter
- c.4654-179C>G Single submitter
- c.4821+8T>C Single submitter
- c.4970+180G>A Single submitter
- c.4970+219C>T Single submitter
- c.4971-163A>C Single submitter
- c.5757+196T>A Single submitter
- c.6612+153C>G Single submitter
- c.662+160C>A Single submitter
- c.663-220T>C Single submitter
- c.6916+159C>T Single submitter
- c.7064-125A>C Single submitter
- c.7064-153C>T Single submitter
- c.7138-184dup Single submitter
- c.7293-200G>C Single submitter
- c.7678-234C>T Single submitter
- c.7818+211del Single submitter
- c.7819-230C>T Single submitter
- c.8229+141_8229+142dup Single submitter
- c.8229+142del Single submitter
- c.8229+142dup Single submitter
- c.8727+223T>A Single submitter
- c.9792+106A>C Single submitter
- c.9792+171C>T Single submitter
- c.9793-157G>A Single submitter
- p.Arg964= Single submitter
- p.Met2168Leu Single submitter ⚠
- c.1924+9T>G No assertion criteria DNAH6-related disorder
- p.Ile3270Val No assertion criteria DNAH6-related disorder
- p.Pro3414Leu No assertion criteria DNAH6-related disorder
- p.Thr727Ala No assertion criteria DNAH6-related disorder
- p.Tyr2653His No assertion criteria DNAH6-related disorder
- p.Tyr764His No assertion criteria DNAH6-related disorder
- p.Val1312Leu No assertion criteria DNAH6-related disorder
Benign/Likely benign 5
- c.7292+6G>A Multiple submitters
- p.Asn3854= Multiple submitters
- p.Leu2572= Multiple submitters
- p.Pro3411= Multiple submitters
- p.Ser4127= Multiple submitters
Likely benign 47
- p.Ala4118Thr Multiple submitters
- p.Asn3854Ser Multiple submitters
- p.Glu505del Multiple submitters
- p.Ser3146Gly Multiple submitters
- c.11999-6T>C Single submitter
- c.4654-6G>A Single submitter
- p.Ala2541= Single submitter
- p.Ala348Thr Single submitter
- p.Arg2546Lys Single submitter
- p.Arg2569= Single submitter
- p.Arg3153His Single submitter
- p.Arg677Lys Single submitter
- p.Asn2031Ser Single submitter
- p.Glu3779Asp Single submitter
- p.Glu602Gly Single submitter
- p.Gly921Ser Single submitter
- p.His3467Tyr Single submitter
- p.Ile154Thr Single submitter
- p.Ser462Leu Single submitter
- p.Thr1402= Single submitter
- p.Val3862= Single submitter
- p.Val4134Ile Single submitter
- c.11612-9A>G No assertion criteria DNAH6-related disorder
- c.11998+7G>A No assertion criteria DNAH6-related disorder
- c.1317-10del No assertion criteria DNAH6-related disorder
- c.2868+7T>G No assertion criteria DNAH6-related disorder
- c.8229+8G>A No assertion criteria DNAH6-related disorder
- c.8852-10A>C No assertion criteria DNAH6-related disorder
- p.Arg2659Trp No assertion criteria DNAH6-related disorder
- p.Arg2689Gln No assertion criteria DNAH6-related disorder
- p.Asn2355Ser No assertion criteria DNAH6-related disorder
- p.His1216Leu No assertion criteria DNAH6-related disorder
- p.His173= No assertion criteria DNAH6-related disorder
- p.His1747= No assertion criteria DNAH6-related disorder
- p.Leu1514= No assertion criteria DNAH6-related disorder
- p.Lys1272= No assertion criteria DNAH6-related disorder
- p.Lys591= No assertion criteria DNAH6-related disorder
- p.Lys969= No assertion criteria DNAH6-related disorder
- p.Ser1499= No assertion criteria DNAH6-related disorder
- p.Ser2281= No assertion criteria DNAH6-related disorder
- p.Ser2666Tyr No assertion criteria DNAH6-related disorder
- p.Tyr1415= No assertion criteria DNAH6-related disorder
- p.Tyr1642= No assertion criteria DNAH6-related disorder
- p.Tyr416= No assertion criteria DNAH6-related disorder
- p.Val1048= No assertion criteria DNAH6-related disorder
- p.Val1320= No assertion criteria DNAH6-related disorder
- p.Val2560Leu No assertion criteria DNAH6-related disorder
Uncertain significance 535
Showing the top 300 by review status; the full set is in the sitemap.
- p.Arg3087His Multiple submitters
- p.Arg3153Cys Multiple submitters ⚠
- p.Arg3292Cys Multiple submitters spermatogenic failure
- p.Asp1222Asn Multiple submitters
- p.Glu2899Lys Multiple submitters
- p.Glu3799Lys Multiple submitters DNAH6-related disorder ⚠
- p.Leu3494Ile Multiple submitters ⚠
- p.Met1506Val Multiple submitters
- p.Val2808Ile Multiple submitters
- p.Ala1015Thr Single submitter ⚠
- p.Ala101Thr Single submitter ⚠
- p.Ala1069Gly Single submitter ⚠
- p.Ala1364Val Single submitter ⚠
- p.Ala1425Val Single submitter ⚠
- p.Ala1441Thr Single submitter ⚠
- p.Ala1515Val Single submitter
- p.Ala1538Thr Single submitter
- p.Ala1550Thr Single submitter ⚠
- p.Ala1606Val Single submitter
- p.Ala1648Val Single submitter
- p.Ala1675Thr Single submitter
- p.Ala1818Pro Single submitter ⚠
- p.Ala2106Thr Single submitter ⚠
- p.Ala2261Thr Single submitter ⚠
- p.Ala2289Thr Single submitter ⚠
- p.Ala2354Thr Single submitter ⚠
- p.Ala2361Glu Single submitter ⚠
- p.Ala2385Thr Single submitter ⚠
- p.Ala240Gly Single submitter ⚠
- p.Ala2776Thr Single submitter ⚠
- p.Ala2970Thr Single submitter
- p.Ala3011Val Single submitter
- p.Ala3134Ser Single submitter ⚠
- p.Ala315Thr Single submitter ⚠
- p.Ala3287Val Single submitter
- p.Ala3478Thr Single submitter ⚠
- p.Ala3624Ser Single submitter ⚠
- p.Ala3741Val Single submitter ⚠
- p.Ala3822Val Single submitter
- p.Ala3924Thr Single submitter ⚠
- p.Ala3947Thr Single submitter ⚠
- p.Ala4118Gly Single submitter
- p.Ala540Ser Single submitter ⚠
- p.Ala585Val Single submitter ⚠
- p.Ala607Thr Single submitter
- p.Ala660Thr Single submitter ⚠
- p.Ala836Thr Single submitter ⚠
- p.Ala859Glu Single submitter
- p.Arg1083Gln Single submitter
- p.Arg1147Gln Single submitter ⚠
- p.Arg1208Gln Single submitter ⚠
- p.Arg1331Gly Single submitter ⚠
- p.Arg136Trp Single submitter ⚠
- p.Arg1426Ser Single submitter
- p.Arg1528Gln Single submitter
- p.Arg1554Gly Single submitter
- p.Arg184Pro Single submitter ⚠
- p.Arg194Cys Single submitter ⚠
- p.Arg194Leu Single submitter ⚠
- p.Arg2077His Single submitter
- p.Arg2134Lys Single submitter ⚠
- p.Arg2173Ser Single submitter ⚠
- p.Arg2219His Single submitter
- p.Arg2323Lys Single submitter ⚠
- p.Arg2387Gln Single submitter
- p.Arg2475Gln Single submitter
- p.Arg2569Cys Single submitter
- p.Arg256Gln Single submitter ⚠
- p.Arg2586Gln Single submitter
- p.Arg2586Trp Single submitter
- p.Arg2651His Single submitter ⚠
- p.Arg2657His Single submitter
- p.Arg2658Lys Single submitter
- p.Arg2659Gln Single submitter ⚠
- p.Arg2689Gly Single submitter
- p.Arg2906His Single submitter ⚠
- p.Arg290Cys Single submitter ⚠
- p.Arg290His Single submitter ⚠
- p.Arg3049Gln Single submitter
- p.Arg3087Cys Single submitter
- p.Arg3110Gln Single submitter
- p.Arg313Gln Single submitter ⚠
- p.Arg3208Gln Single submitter ⚠
- p.Arg3273Ser Single submitter ⚠
- p.Arg3288Cys Single submitter
- p.Arg3292His Single submitter
- p.Arg3380Cys Single submitter
- p.Arg3380His Single submitter ⚠
- p.Arg3404Cys Single submitter
- p.Arg35Ser Single submitter ⚠
- p.Arg3630Gln Single submitter
- p.Arg3661His Single submitter
- p.Arg3661Pro Single submitter
- p.Arg3666Gln Single submitter
- p.Arg3702Lys Single submitter
- p.Arg3721Lys Single submitter
- p.Arg380Cys Single submitter ⚠
- p.Arg380His Single submitter ⚠
- p.Arg3890Cys Single submitter ⚠
- p.Arg3904Trp Single submitter
- p.Arg4007Gln Single submitter
- p.Arg4117Gln Single submitter
- p.Arg442Cys Single submitter
- p.Arg442His Single submitter ⚠
- p.Arg473Gln Single submitter ⚠
- p.Arg473Gly Single submitter ⚠
- p.Arg473Ter Single submitter
- p.Arg4Trp Single submitter ⚠
- p.Arg54Thr Single submitter ⚠
- p.Arg612Cys Single submitter ⚠
- p.Arg612His Single submitter ⚠
- p.Arg64Thr Single submitter
- p.Arg667Ser Single submitter ⚠
- p.Arg677Ser Single submitter ⚠
- p.Arg700Cys Single submitter ⚠
- p.Arg700His Single submitter ⚠
- p.Arg743Trp Single submitter ⚠
- p.Arg787Gln Single submitter ⚠
- p.Arg858His Single submitter ⚠
- p.Arg95Gln Single submitter ⚠
- p.Arg964Lys Single submitter
- p.Arg971Ser Single submitter
- p.Asn1166Thr Single submitter ⚠
- p.Asn1167Ser Single submitter ⚠
- p.Asn1168Ser Single submitter
- p.Asn1197Ser Single submitter
- p.Asn1680Asp Single submitter
- p.Asn1680Ser Single submitter
- p.Asn182Lys Single submitter ⚠
- p.Asn2296Ser Single submitter
- p.Asn2442Ser Single submitter
- p.Asn246Ser Single submitter ⚠
- p.Asn2703Lys Single submitter
- p.Asn2784Ser Single submitter ⚠
- p.Asn288Asp Single submitter
- p.Asn28His Single submitter ⚠
- p.Asn28Ser Single submitter ⚠
- p.Asn304Thr Single submitter ⚠
- p.Asn3175Asp Single submitter
- p.Asn3357Ser Single submitter ⚠
- p.Asn3437Thr Single submitter ⚠
- p.Asn3727Ser Single submitter ⚠
- p.Asn4086Asp Single submitter ⚠
- p.Asn408Ser Single submitter ⚠
- p.Asn820Asp Single submitter ⚠
- p.Asn847Ser Single submitter ⚠
- p.Asp1010Asn Single submitter ⚠
- p.Asp1030Asn Single submitter ⚠
- p.Asp1135Asn Single submitter
- p.Asp1452Gly Single submitter
- p.Asp1500Glu Single submitter ⚠
- p.Asp1643Asn Single submitter
- p.Asp1678Val Single submitter
- p.Asp1688Gly Single submitter
- p.Asp1955Asn Single submitter
- p.Asp2011Val Single submitter
- p.Asp2014Asn Single submitter ⚠
- p.Asp2194Glu Single submitter Abnormal spermatogenesis
- p.Asp2311Val Single submitter
- p.Asp2742Asn Single submitter
- p.Asp2889Gly Single submitter
- p.Asp3059Asn Single submitter
- p.Asp3059Tyr Single submitter ⚠
- p.Asp3059Val Single submitter ⚠
- p.Asp3132Ala Single submitter
- p.Asp3132His Single submitter
- p.Asp3158Asn Single submitter ⚠
- p.Asp3469Val Single submitter ⚠
- p.Asp3588Ala Single submitter ⚠
- p.Asp3780Gly Single submitter ⚠
- p.Asp772Val Single submitter ⚠
- p.Asp828His Single submitter
- p.Asp900Ala Single submitter ⚠
- p.Cys1947Tyr Single submitter ⚠
- p.Cys1964Phe Single submitter
- p.Cys1964Tyr Single submitter
- p.Cys2212Gly Single submitter
- p.Cys2329Gly Single submitter ⚠
- p.Cys2464Tyr Single submitter
- p.Cys2468Tyr Single submitter
- p.Cys3002Tyr Single submitter
- p.Cys3020Tyr Single submitter ⚠
- p.Cys3183Ser Single submitter
- p.Gln1105Arg Single submitter ⚠
- p.Gln1133Arg Single submitter ⚠
- p.Gln133Arg Single submitter ⚠
- p.Gln1463His Single submitter ⚠
- p.Gln1516Pro Single submitter
- p.Gln2423His Single submitter ⚠
- p.Gln2622Arg Single submitter ⚠
- p.Gln2684Arg Single submitter ⚠
- p.Gln2763Arg Single submitter
- p.Gln2858Arg Single submitter ⚠
- p.Gln2903Lys Single submitter
- p.Gln3023Arg Single submitter ⚠
- p.Gln3142His Single submitter ⚠
- p.Gln3282His Single submitter ⚠
- p.Gln3534Lys Single submitter ⚠
- p.Gln481Arg Single submitter ⚠
- p.Gln827Arg Single submitter ⚠
- p.Gln830His Single submitter ⚠
- p.Glu1086Lys Single submitter ⚠
- p.Glu1099Gln Single submitter
- p.Glu1162Lys Single submitter
- p.Glu1228Lys Single submitter
- p.Glu1338Lys Single submitter ⚠
- p.Glu1401Gly Single submitter ⚠
- p.Glu1668Asp Single submitter
- p.Glu2275Ala Single submitter ⚠
- p.Glu2318Ala Single submitter ⚠
- p.Glu2535Lys Single submitter
- p.Glu253Lys Single submitter ⚠
- p.Glu2559Lys Single submitter ⚠
- p.Glu2669Gly Single submitter
- p.Glu2680Lys Single submitter ⚠
- p.Glu2717Gly Single submitter
- p.Glu3113Lys Single submitter
- p.Glu3216Gln Single submitter ⚠
- p.Glu3216Val Single submitter ⚠
- p.Glu3425Lys Single submitter ⚠
- p.Glu3880Ala Single submitter ⚠
- p.Glu3934Gln Single submitter
- p.Glu43Lys Single submitter ⚠
- p.Glu629Gly Single submitter ⚠
- p.Glu681Lys Single submitter ⚠
- p.Glu717Gly Single submitter ⚠
- p.Glu750Val Single submitter
- p.Glu872Lys Single submitter ⚠
- p.Glu951Lys Single submitter ⚠
- p.Glu9Lys Single submitter ⚠
- p.Gly1053Ser Single submitter ⚠
- p.Gly1237Val Single submitter ⚠
- p.Gly1368Asp Single submitter
- p.Gly1468Arg Single submitter
- p.Gly1645Val Single submitter ⚠
- p.Gly1758Ser Single submitter ⚠
- p.Gly1799Ala Single submitter
- p.Gly1975Arg Single submitter
- p.Gly200fs Single submitter
- p.Gly2152Glu Single submitter
- p.Gly2218Asp Single submitter ⚠
- p.Gly2253Asp Single submitter
- p.Gly2441Asp Single submitter ⚠
- p.Gly2450Ser Single submitter ⚠
- p.Gly2833Ala Single submitter
- p.Gly2943Asp Single submitter
- p.Gly3147Ser Single submitter ⚠
- p.Gly3268Ala Single submitter ⚠
- p.Gly3461Ala Single submitter ⚠
- p.Gly3461Asp Single submitter ⚠
- p.Gly3579Arg Single submitter
- p.Gly3579Glu Single submitter
- p.Gly3735Glu Single submitter ⚠
- p.Gly3753Asp Single submitter Abnormal spermatogenesis ⚠
- p.Gly3996Glu Single submitter
- p.Gly4083Arg Single submitter
- p.Gly539Ser Single submitter ⚠
- p.Gly578Ala Single submitter
- p.His151Leu Single submitter ⚠
- p.His173Arg Single submitter ⚠
- p.His1874Tyr Single submitter ⚠
- p.His1941Tyr Single submitter ⚠
- p.His2483Arg Single submitter ⚠
- p.His3480Leu Single submitter ⚠
- p.His4093Asn Single submitter
- p.His453Tyr Single submitter
- p.His55Asn Single submitter ⚠
- p.His657Leu Single submitter
- p.His84Leu Single submitter ⚠
- p.His972Leu Single submitter ⚠
- p.Ile1141Leu Single submitter ⚠
- p.Ile1188Val Single submitter ⚠
- p.Ile1224Val Single submitter
- p.Ile1391Thr Single submitter ⚠
- p.Ile1391Val Single submitter ⚠
- p.Ile1418Thr Single submitter ⚠
- p.Ile1491Val Single submitter ⚠
- p.Ile1531Thr Single submitter
- p.Ile1537Val Single submitter ⚠
- p.Ile1542Val Single submitter ⚠
- p.Ile15Thr Single submitter ⚠
- p.Ile1696Leu Single submitter ⚠
- p.Ile1696Met Single submitter ⚠
- p.Ile1796Val Single submitter ⚠
- p.Ile1836Leu Single submitter ⚠
- p.Ile1846Met Single submitter ⚠
- p.Ile189Val Single submitter ⚠
- p.Ile2097Val Single submitter ⚠
- p.Ile2113Thr Single submitter ⚠
- p.Ile213Val Single submitter ⚠
- p.Ile2159Thr Single submitter
- p.Ile2349Val Single submitter ⚠
- p.Ile2373Val Single submitter ⚠
- p.Ile2432Thr Single submitter
- p.Ile2471Val Single submitter ⚠
- p.Ile249Thr Single submitter ⚠
- p.Ile2509Met Single submitter
- p.Ile272Met Single submitter ⚠
- p.Ile2849Val Single submitter
- p.Ile2861Val Single submitter ⚠