Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178636764C>ACA235126TTNc.33259G>T (p.Glu11087Ter)
c.14344G>T (p.Glu4782Ter)
c.14143G>T (p.Glu4715Ter)
c.2875G>T (p.Glu959Ter)
c.13768G>T (p.Glu4590Ter)
c.40963G>T (p.Glu13655Ter)
c.36040G>T (p.Glu12014Ter)
c.40060G>T (p.Glu13354Ter)
c.13954G>T (p.Glu4652Ter)
c.13813G>T (p.Glu4605Ter)
c.39856G>T (p.Glu13286Ter)
c.35254G>T (p.Glu11752Ter)
c.35251G>T (p.Glu11751Ter)
c.32293G>T (p.Glu10765Ter)
c.13909G>T (p.Glu4637Ter)
c.35404G>T (p.Glu11802Ter)
c.35401G>T (p.Glu11801Ter)
c.34834G>T (p.Glu11612Ter)
c.32176G>T (p.Glu10726Ter)
c.32095G>T (p.Glu10699Ter)
c.13858G>T (p.Glu4620Ter)
c.3712G>T (p.Glu1238Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178636764C=CA1310558447TTNc.33259G= (p.Glu11087=)
c.14344G= (p.Glu4782=)
c.14143G= (p.Glu4715=)
c.2875G= (p.Glu959=)
c.13768G= (p.Glu4590=)
c.40963G= (p.Glu13655=)
c.36040G= (p.Glu12014=)
c.40060G= (p.Glu13354=)
c.13954G= (p.Glu4652=)
c.13813G= (p.Glu4605=)
c.39856G= (p.Glu13286=)
c.35254G= (p.Glu11752=)
c.35251G= (p.Glu11751=)
c.32293G= (p.Glu10765=)
c.13909G= (p.Glu4637=)
c.35404G= (p.Glu11802=)
c.35401G= (p.Glu11801=)
c.34834G= (p.Glu11612=)
c.32176G= (p.Glu10726=)
c.32095G= (p.Glu10699=)
c.13858G= (p.Glu4620=)
c.3712G= (p.Glu1238=)
2g.178636764C>GCA349661941TTNc.33259G>C (p.Glu11087Gln)
c.14344G>C (p.Glu4782Gln)
c.14143G>C (p.Glu4715Gln)
c.2875G>C (p.Glu959Gln)
c.13768G>C (p.Glu4590Gln)
c.40963G>C (p.Glu13655Gln)
c.36040G>C (p.Glu12014Gln)
c.40060G>C (p.Glu13354Gln)
c.13954G>C (p.Glu4652Gln)
c.13813G>C (p.Glu4605Gln)
c.39856G>C (p.Glu13286Gln)
c.35254G>C (p.Glu11752Gln)
c.35251G>C (p.Glu11751Gln)
c.32293G>C (p.Glu10765Gln)
c.13909G>C (p.Glu4637Gln)
c.35404G>C (p.Glu11802Gln)
c.35401G>C (p.Glu11801Gln)
c.34834G>C (p.Glu11612Gln)
c.32176G>C (p.Glu10726Gln)
c.32095G>C (p.Glu10699Gln)
c.13858G>C (p.Glu4620Gln)
c.3712G>C (p.Glu1238Gln)
2g.178636764C>TCA309758TTNc.33259G>A (p.Glu11087Lys)
c.14344G>A (p.Glu4782Lys)
c.14143G>A (p.Glu4715Lys)
c.2875G>A (p.Glu959Lys)
c.13768G>A (p.Glu4590Lys)
c.40963G>A (p.Glu13655Lys)
c.36040G>A (p.Glu12014Lys)
c.40060G>A (p.Glu13354Lys)
c.13954G>A (p.Glu4652Lys)
c.13813G>A (p.Glu4605Lys)
c.39856G>A (p.Glu13286Lys)
c.35254G>A (p.Glu11752Lys)
c.35251G>A (p.Glu11751Lys)
c.32293G>A (p.Glu10765Lys)
c.13909G>A (p.Glu4637Lys)
c.35404G>A (p.Glu11802Lys)
c.35401G>A (p.Glu11801Lys)
c.34834G>A (p.Glu11612Lys)
c.32176G>A (p.Glu10726Lys)
c.32095G>A (p.Glu10699Lys)
c.13858G>A (p.Glu4620Lys)
c.3712G>A (p.Glu1238Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178636765G>ACA61007914TTNc.33258C>T (p.Ala11086=)
c.14343C>T (p.Ala4781=)
c.14142C>T (p.Ala4714=)
c.2874C>T (p.Ala958=)
c.13767C>T (p.Ala4589=)
c.40962C>T (p.Ala13654=)
c.36039C>T (p.Ala12013=)
c.40059C>T (p.Ala13353=)
c.13953C>T (p.Ala4651=)
c.13812C>T (p.Ala4604=)
c.39855C>T (p.Ala13285=)
c.35253C>T (p.Ala11751=)
c.35250C>T (p.Ala11750=)
c.32292C>T (p.Ala10764=)
c.13908C>T (p.Ala4636=)
c.35403C>T (p.Ala11801=)
c.35400C>T (p.Ala11800=)
c.34833C>T (p.Ala11611=)
c.32175C>T (p.Ala10725=)
c.32094C>T (p.Ala10698=)
c.13857C>T (p.Ala4619=)
c.3711C>T (p.Ala1237=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178636765G>CCA430114941TTNc.33258C>G (p.Ala11086=)
c.14343C>G (p.Ala4781=)
c.14142C>G (p.Ala4714=)
c.2874C>G (p.Ala958=)
c.13767C>G (p.Ala4589=)
c.40962C>G (p.Ala13654=)
c.36039C>G (p.Ala12013=)
c.40059C>G (p.Ala13353=)
c.13953C>G (p.Ala4651=)
c.13812C>G (p.Ala4604=)
c.39855C>G (p.Ala13285=)
c.35253C>G (p.Ala11751=)
c.35250C>G (p.Ala11750=)
c.32292C>G (p.Ala10764=)
c.13908C>G (p.Ala4636=)
c.35403C>G (p.Ala11801=)
c.35400C>G (p.Ala11800=)
c.34833C>G (p.Ala11611=)
c.32175C>G (p.Ala10725=)
c.32094C>G (p.Ala10698=)
c.13857C>G (p.Ala4619=)
c.3711C>G (p.Ala1237=)
2g.178636765G=CA1310558448TTNc.33258C= (p.Ala11086=)
c.14343C= (p.Ala4781=)
c.14142C= (p.Ala4714=)
c.2874C= (p.Ala958=)
c.13767C= (p.Ala4589=)
c.40962C= (p.Ala13654=)
c.36039C= (p.Ala12013=)
c.40059C= (p.Ala13353=)
c.13953C= (p.Ala4651=)
c.13812C= (p.Ala4604=)
c.39855C= (p.Ala13285=)
c.35253C= (p.Ala11751=)
c.35250C= (p.Ala11750=)
c.32292C= (p.Ala10764=)
c.13908C= (p.Ala4636=)
c.35403C= (p.Ala11801=)
c.35400C= (p.Ala11800=)
c.34833C= (p.Ala11611=)
c.32175C= (p.Ala10725=)
c.32094C= (p.Ala10698=)
c.13857C= (p.Ala4619=)
c.3711C= (p.Ala1237=)
2g.178636765G>TCA430114944TTNc.33258C>A (p.Ala11086=)
c.14343C>A (p.Ala4781=)
c.14142C>A (p.Ala4714=)
c.2874C>A (p.Ala958=)
c.13767C>A (p.Ala4589=)
c.40962C>A (p.Ala13654=)
c.36039C>A (p.Ala12013=)
c.40059C>A (p.Ala13353=)
c.13953C>A (p.Ala4651=)
c.13812C>A (p.Ala4604=)
c.39855C>A (p.Ala13285=)
c.35253C>A (p.Ala11751=)
c.35250C>A (p.Ala11750=)
c.32292C>A (p.Ala10764=)
c.13908C>A (p.Ala4636=)
c.35403C>A (p.Ala11801=)
c.35400C>A (p.Ala11800=)
c.34833C>A (p.Ala11611=)
c.32175C>A (p.Ala10725=)
c.32094C>A (p.Ala10698=)
c.13857C>A (p.Ala4619=)
c.3711C>A (p.Ala1237=)
 ClinVar dbSNP gnomAD v4
2g.178636766G>ACA349661942TTNc.33257C>T (p.Ala11086Val)
c.14342C>T (p.Ala4781Val)
c.14141C>T (p.Ala4714Val)
c.2873C>T (p.Ala958Val)
c.13766C>T (p.Ala4589Val)
c.40961C>T (p.Ala13654Val)
c.36038C>T (p.Ala12013Val)
c.40058C>T (p.Ala13353Val)
c.13952C>T (p.Ala4651Val)
c.13811C>T (p.Ala4604Val)
c.39854C>T (p.Ala13285Val)
c.35252C>T (p.Ala11751Val)
c.35249C>T (p.Ala11750Val)
c.32291C>T (p.Ala10764Val)
c.13907C>T (p.Ala4636Val)
c.35402C>T (p.Ala11801Val)
c.35399C>T (p.Ala11800Val)
c.34832C>T (p.Ala11611Val)
c.32174C>T (p.Ala10725Val)
c.32093C>T (p.Ala10698Val)
c.13856C>T (p.Ala4619Val)
c.3710C>T (p.Ala1237Val)
2g.178636766G>CCA349661943TTNc.33257C>G (p.Ala11086Gly)
c.14342C>G (p.Ala4781Gly)
c.14141C>G (p.Ala4714Gly)
c.2873C>G (p.Ala958Gly)
c.13766C>G (p.Ala4589Gly)
c.40961C>G (p.Ala13654Gly)
c.36038C>G (p.Ala12013Gly)
c.40058C>G (p.Ala13353Gly)
c.13952C>G (p.Ala4651Gly)
c.13811C>G (p.Ala4604Gly)
c.39854C>G (p.Ala13285Gly)
c.35252C>G (p.Ala11751Gly)
c.35249C>G (p.Ala11750Gly)
c.32291C>G (p.Ala10764Gly)
c.13907C>G (p.Ala4636Gly)
c.35402C>G (p.Ala11801Gly)
c.35399C>G (p.Ala11800Gly)
c.34832C>G (p.Ala11611Gly)
c.32174C>G (p.Ala10725Gly)
c.32093C>G (p.Ala10698Gly)
c.13856C>G (p.Ala4619Gly)
c.3710C>G (p.Ala1237Gly)
2g.178636766G>TCA349661944TTNc.33257C>A (p.Ala11086Asp)
c.14342C>A (p.Ala4781Asp)
c.14141C>A (p.Ala4714Asp)
c.2873C>A (p.Ala958Asp)
c.13766C>A (p.Ala4589Asp)
c.40961C>A (p.Ala13654Asp)
c.36038C>A (p.Ala12013Asp)
c.40058C>A (p.Ala13353Asp)
c.13952C>A (p.Ala4651Asp)
c.13811C>A (p.Ala4604Asp)
c.39854C>A (p.Ala13285Asp)
c.35252C>A (p.Ala11751Asp)
c.35249C>A (p.Ala11750Asp)
c.32291C>A (p.Ala10764Asp)
c.13907C>A (p.Ala4636Asp)
c.35402C>A (p.Ala11801Asp)
c.35399C>A (p.Ala11800Asp)
c.34832C>A (p.Ala11611Asp)
c.32174C>A (p.Ala10725Asp)
c.32093C>A (p.Ala10698Asp)
c.13856C>A (p.Ala4619Asp)
c.3710C>A (p.Ala1237Asp)
2g.178636767C>ACA349661946TTNc.33256G>T (p.Ala11086Ser)
c.14341G>T (p.Ala4781Ser)
c.14140G>T (p.Ala4714Ser)
c.2872G>T (p.Ala958Ser)
c.13765G>T (p.Ala4589Ser)
c.40960G>T (p.Ala13654Ser)
c.36037G>T (p.Ala12013Ser)
c.40057G>T (p.Ala13353Ser)
c.13951G>T (p.Ala4651Ser)
c.13810G>T (p.Ala4604Ser)
c.39853G>T (p.Ala13285Ser)
c.35251G>T (p.Ala11751Ser)
c.35248G>T (p.Ala11750Ser)
c.32290G>T (p.Ala10764Ser)
c.13906G>T (p.Ala4636Ser)
c.35401G>T (p.Ala11801Ser)
c.35398G>T (p.Ala11800Ser)
c.34831G>T (p.Ala11611Ser)
c.32173G>T (p.Ala10725Ser)
c.32092G>T (p.Ala10698Ser)
c.13855G>T (p.Ala4619Ser)
c.3709G>T (p.Ala1237Ser)
2g.178636767C>GCA349661947TTNc.33256G>C (p.Ala11086Pro)
c.14341G>C (p.Ala4781Pro)
c.14140G>C (p.Ala4714Pro)
c.2872G>C (p.Ala958Pro)
c.13765G>C (p.Ala4589Pro)
c.40960G>C (p.Ala13654Pro)
c.36037G>C (p.Ala12013Pro)
c.40057G>C (p.Ala13353Pro)
c.13951G>C (p.Ala4651Pro)
c.13810G>C (p.Ala4604Pro)
c.39853G>C (p.Ala13285Pro)
c.35251G>C (p.Ala11751Pro)
c.35248G>C (p.Ala11750Pro)
c.32290G>C (p.Ala10764Pro)
c.13906G>C (p.Ala4636Pro)
c.35401G>C (p.Ala11801Pro)
c.35398G>C (p.Ala11800Pro)
c.34831G>C (p.Ala11611Pro)
c.32173G>C (p.Ala10725Pro)
c.32092G>C (p.Ala10698Pro)
c.13855G>C (p.Ala4619Pro)
c.3709G>C (p.Ala1237Pro)
2g.178636767C>TCA349661949TTNc.33256G>A (p.Ala11086Thr)
c.14341G>A (p.Ala4781Thr)
c.14140G>A (p.Ala4714Thr)
c.2872G>A (p.Ala958Thr)
c.13765G>A (p.Ala4589Thr)
c.40960G>A (p.Ala13654Thr)
c.36037G>A (p.Ala12013Thr)
c.40057G>A (p.Ala13353Thr)
c.13951G>A (p.Ala4651Thr)
c.13810G>A (p.Ala4604Thr)
c.39853G>A (p.Ala13285Thr)
c.35251G>A (p.Ala11751Thr)
c.35248G>A (p.Ala11750Thr)
c.32290G>A (p.Ala10764Thr)
c.13906G>A (p.Ala4636Thr)
c.35401G>A (p.Ala11801Thr)
c.35398G>A (p.Ala11800Thr)
c.34831G>A (p.Ala11611Thr)
c.32173G>A (p.Ala10725Thr)
c.32092G>A (p.Ala10698Thr)
c.13855G>A (p.Ala4619Thr)
c.3709G>A (p.Ala1237Thr)
2g.178636768T>ACA349661950TTNc.33255A>T (p.Glu11085Asp)
c.14340A>T (p.Glu4780Asp)
c.14139A>T (p.Glu4713Asp)
c.2871A>T (p.Glu957Asp)
c.13764A>T (p.Glu4588Asp)
c.40959A>T (p.Glu13653Asp)
c.36036A>T (p.Glu12012Asp)
c.40056A>T (p.Glu13352Asp)
c.13950A>T (p.Glu4650Asp)
c.13809A>T (p.Glu4603Asp)
c.39852A>T (p.Glu13284Asp)
c.35250A>T (p.Glu11750Asp)
c.35247A>T (p.Glu11749Asp)
c.32289A>T (p.Glu10763Asp)
c.13905A>T (p.Glu4635Asp)
c.35400A>T (p.Glu11800Asp)
c.35397A>T (p.Glu11799Asp)
c.34830A>T (p.Glu11610Asp)
c.32172A>T (p.Glu10724Asp)
c.32091A>T (p.Glu10697Asp)
c.13854A>T (p.Glu4618Asp)
c.3708A>T (p.Glu1236Asp)
2g.178636768T>CCA430114952TTNc.33255A>G (p.Glu11085=)
c.14340A>G (p.Glu4780=)
c.14139A>G (p.Glu4713=)
c.2871A>G (p.Glu957=)
c.13764A>G (p.Glu4588=)
c.40959A>G (p.Glu13653=)
c.36036A>G (p.Glu12012=)
c.40056A>G (p.Glu13352=)
c.13950A>G (p.Glu4650=)
c.13809A>G (p.Glu4603=)
c.39852A>G (p.Glu13284=)
c.35250A>G (p.Glu11750=)
c.35247A>G (p.Glu11749=)
c.32289A>G (p.Glu10763=)
c.13905A>G (p.Glu4635=)
c.35400A>G (p.Glu11800=)
c.35397A>G (p.Glu11799=)
c.34830A>G (p.Glu11610=)
c.32172A>G (p.Glu10724=)
c.32091A>G (p.Glu10697=)
c.13854A>G (p.Glu4618=)
c.3708A>G (p.Glu1236=)
2g.178636768T>GCA349661951TTNc.33255A>C (p.Glu11085Asp)
c.14340A>C (p.Glu4780Asp)
c.14139A>C (p.Glu4713Asp)
c.2871A>C (p.Glu957Asp)
c.13764A>C (p.Glu4588Asp)
c.40959A>C (p.Glu13653Asp)
c.36036A>C (p.Glu12012Asp)
c.40056A>C (p.Glu13352Asp)
c.13950A>C (p.Glu4650Asp)
c.13809A>C (p.Glu4603Asp)
c.39852A>C (p.Glu13284Asp)
c.35250A>C (p.Glu11750Asp)
c.35247A>C (p.Glu11749Asp)
c.32289A>C (p.Glu10763Asp)
c.13905A>C (p.Glu4635Asp)
c.35400A>C (p.Glu11800Asp)
c.35397A>C (p.Glu11799Asp)
c.34830A>C (p.Glu11610Asp)
c.32172A>C (p.Glu10724Asp)
c.32091A>C (p.Glu10697Asp)
c.13854A>C (p.Glu4618Asp)
c.3708A>C (p.Glu1236Asp)
2g.178636769T>ACA349661952TTNc.33254A>T (p.Glu11085Val)
c.14339A>T (p.Glu4780Val)
c.14138A>T (p.Glu4713Val)
c.2870A>T (p.Glu957Val)
c.13763A>T (p.Glu4588Val)
c.40958A>T (p.Glu13653Val)
c.36035A>T (p.Glu12012Val)
c.40055A>T (p.Glu13352Val)
c.13949A>T (p.Glu4650Val)
c.13808A>T (p.Glu4603Val)
c.39851A>T (p.Glu13284Val)
c.35249A>T (p.Glu11750Val)
c.35246A>T (p.Glu11749Val)
c.32288A>T (p.Glu10763Val)
c.13904A>T (p.Glu4635Val)
c.35399A>T (p.Glu11800Val)
c.35396A>T (p.Glu11799Val)
c.34829A>T (p.Glu11610Val)
c.32171A>T (p.Glu10724Val)
c.32090A>T (p.Glu10697Val)
c.13853A>T (p.Glu4618Val)
c.3707A>T (p.Glu1236Val)
2g.178636769T>CCA349661953TTNc.33254A>G (p.Glu11085Gly)
c.14339A>G (p.Glu4780Gly)
c.14138A>G (p.Glu4713Gly)
c.2870A>G (p.Glu957Gly)
c.13763A>G (p.Glu4588Gly)
c.40958A>G (p.Glu13653Gly)
c.36035A>G (p.Glu12012Gly)
c.40055A>G (p.Glu13352Gly)
c.13949A>G (p.Glu4650Gly)
c.13808A>G (p.Glu4603Gly)
c.39851A>G (p.Glu13284Gly)
c.35249A>G (p.Glu11750Gly)
c.35246A>G (p.Glu11749Gly)
c.32288A>G (p.Glu10763Gly)
c.13904A>G (p.Glu4635Gly)
c.35399A>G (p.Glu11800Gly)
c.35396A>G (p.Glu11799Gly)
c.34829A>G (p.Glu11610Gly)
c.32171A>G (p.Glu10724Gly)
c.32090A>G (p.Glu10697Gly)
c.13853A>G (p.Glu4618Gly)
c.3707A>G (p.Glu1236Gly)
2g.178636769T>GCA349661954TTNc.33254A>C (p.Glu11085Ala)
c.14339A>C (p.Glu4780Ala)
c.14138A>C (p.Glu4713Ala)
c.2870A>C (p.Glu957Ala)
c.13763A>C (p.Glu4588Ala)
c.40958A>C (p.Glu13653Ala)
c.36035A>C (p.Glu12012Ala)
c.40055A>C (p.Glu13352Ala)
c.13949A>C (p.Glu4650Ala)
c.13808A>C (p.Glu4603Ala)
c.39851A>C (p.Glu13284Ala)
c.35249A>C (p.Glu11750Ala)
c.35246A>C (p.Glu11749Ala)
c.32288A>C (p.Glu10763Ala)
c.13904A>C (p.Glu4635Ala)
c.35399A>C (p.Glu11800Ala)
c.35396A>C (p.Glu11799Ala)
c.34829A>C (p.Glu11610Ala)
c.32171A>C (p.Glu10724Ala)
c.32090A>C (p.Glu10697Ala)
c.13853A>C (p.Glu4618Ala)
c.3707A>C (p.Glu1236Ala)
2g.178636770C>ACA349661958TTNc.33253G>T (p.Glu11085Ter)
c.14338G>T (p.Glu4780Ter)
c.14137G>T (p.Glu4713Ter)
c.2869G>T (p.Glu957Ter)
c.13762G>T (p.Glu4588Ter)
c.40957G>T (p.Glu13653Ter)
c.36034G>T (p.Glu12012Ter)
c.40054G>T (p.Glu13352Ter)
c.13948G>T (p.Glu4650Ter)
c.13807G>T (p.Glu4603Ter)
c.39850G>T (p.Glu13284Ter)
c.35248G>T (p.Glu11750Ter)
c.35245G>T (p.Glu11749Ter)
c.32287G>T (p.Glu10763Ter)
c.13903G>T (p.Glu4635Ter)
c.35398G>T (p.Glu11800Ter)
c.35395G>T (p.Glu11799Ter)
c.34828G>T (p.Glu11610Ter)
c.32170G>T (p.Glu10724Ter)
c.32089G>T (p.Glu10697Ter)
c.13852G>T (p.Glu4618Ter)
c.3706G>T (p.Glu1236Ter)
2g.178636770C>GCA349661957TTNc.33253G>C (p.Glu11085Gln)
c.14338G>C (p.Glu4780Gln)
c.14137G>C (p.Glu4713Gln)
c.2869G>C (p.Glu957Gln)
c.13762G>C (p.Glu4588Gln)
c.40957G>C (p.Glu13653Gln)
c.36034G>C (p.Glu12012Gln)
c.40054G>C (p.Glu13352Gln)
c.13948G>C (p.Glu4650Gln)
c.13807G>C (p.Glu4603Gln)
c.39850G>C (p.Glu13284Gln)
c.35248G>C (p.Glu11750Gln)
c.35245G>C (p.Glu11749Gln)
c.32287G>C (p.Glu10763Gln)
c.13903G>C (p.Glu4635Gln)
c.35398G>C (p.Glu11800Gln)
c.35395G>C (p.Glu11799Gln)
c.34828G>C (p.Glu11610Gln)
c.32170G>C (p.Glu10724Gln)
c.32089G>C (p.Glu10697Gln)
c.13852G>C (p.Glu4618Gln)
c.3706G>C (p.Glu1236Gln)
2g.178636770C>TCA349661956TTNc.33253G>A (p.Glu11085Lys)
c.14338G>A (p.Glu4780Lys)
c.14137G>A (p.Glu4713Lys)
c.2869G>A (p.Glu957Lys)
c.13762G>A (p.Glu4588Lys)
c.40957G>A (p.Glu13653Lys)
c.36034G>A (p.Glu12012Lys)
c.40054G>A (p.Glu13352Lys)
c.13948G>A (p.Glu4650Lys)
c.13807G>A (p.Glu4603Lys)
c.39850G>A (p.Glu13284Lys)
c.35248G>A (p.Glu11750Lys)
c.35245G>A (p.Glu11749Lys)
c.32287G>A (p.Glu10763Lys)
c.13903G>A (p.Glu4635Lys)
c.35398G>A (p.Glu11800Lys)
c.35395G>A (p.Glu11799Lys)
c.34828G>A (p.Glu11610Lys)
c.32170G>A (p.Glu10724Lys)
c.32089G>A (p.Glu10697Lys)
c.13852G>A (p.Glu4618Lys)
c.3706G>A (p.Glu1236Lys)
2g.178636771T>ACA430114960TTNc.33252A>T (p.Ile11084=)
c.14337A>T (p.Ile4779=)
c.14136A>T (p.Ile4712=)
c.2868A>T (p.Ile956=)
c.13761A>T (p.Ile4587=)
c.40956A>T (p.Ile13652=)
c.36033A>T (p.Ile12011=)
c.40053A>T (p.Ile13351=)
c.13947A>T (p.Ile4649=)
c.13806A>T (p.Ile4602=)
c.39849A>T (p.Ile13283=)
c.35247A>T (p.Ile11749=)
c.35244A>T (p.Ile11748=)
c.32286A>T (p.Ile10762=)
c.13902A>T (p.Ile4634=)
c.35397A>T (p.Ile11799=)
c.35394A>T (p.Ile11798=)
c.34827A>T (p.Ile11609=)
c.32169A>T (p.Ile10723=)
c.32088A>T (p.Ile10696=)
c.13851A>T (p.Ile4617=)
c.3705A>T (p.Ile1235=)
2g.178636771T>CCA139585TTNc.33252A>G (p.Ile11084Met)
c.14337A>G (p.Ile4779Met)
c.14136A>G (p.Ile4712Met)
c.2868A>G (p.Ile956Met)
c.13761A>G (p.Ile4587Met)
c.40956A>G (p.Ile13652Met)
c.36033A>G (p.Ile12011Met)
c.40053A>G (p.Ile13351Met)
c.13947A>G (p.Ile4649Met)
c.13806A>G (p.Ile4602Met)
c.39849A>G (p.Ile13283Met)
c.35247A>G (p.Ile11749Met)
c.35244A>G (p.Ile11748Met)
c.32286A>G (p.Ile10762Met)
c.13902A>G (p.Ile4634Met)
c.35397A>G (p.Ile11799Met)
c.35394A>G (p.Ile11798Met)
c.34827A>G (p.Ile11609Met)
c.32169A>G (p.Ile10723Met)
c.32088A>G (p.Ile10696Met)
c.13851A>G (p.Ile4617Met)
c.3705A>G (p.Ile1235Met)
 ClinVar dbSNP gnomAD v4
2g.178636771T>GCA430114962TTNc.33252A>C (p.Ile11084=)
c.14337A>C (p.Ile4779=)
c.14136A>C (p.Ile4712=)
c.2868A>C (p.Ile956=)
c.13761A>C (p.Ile4587=)
c.40956A>C (p.Ile13652=)
c.36033A>C (p.Ile12011=)
c.40053A>C (p.Ile13351=)
c.13947A>C (p.Ile4649=)
c.13806A>C (p.Ile4602=)
c.39849A>C (p.Ile13283=)
c.35247A>C (p.Ile11749=)
c.35244A>C (p.Ile11748=)
c.32286A>C (p.Ile10762=)
c.13902A>C (p.Ile4634=)
c.35397A>C (p.Ile11799=)
c.35394A>C (p.Ile11798=)
c.34827A>C (p.Ile11609=)
c.32169A>C (p.Ile10723=)
c.32088A>C (p.Ile10696=)
c.13851A>C (p.Ile4617=)
c.3705A>C (p.Ile1235=)
2g.178636771T=CA1310558449TTNc.33252A= (p.Ile11084=)
c.14337A= (p.Ile4779=)
c.14136A= (p.Ile4712=)
c.2868A= (p.Ile956=)
c.13761A= (p.Ile4587=)
c.40956A= (p.Ile13652=)
c.36033A= (p.Ile12011=)
c.40053A= (p.Ile13351=)
c.13947A= (p.Ile4649=)
c.13806A= (p.Ile4602=)
c.39849A= (p.Ile13283=)
c.35247A= (p.Ile11749=)
c.35244A= (p.Ile11748=)
c.32286A= (p.Ile10762=)
c.13902A= (p.Ile4634=)
c.35397A= (p.Ile11799=)
c.35394A= (p.Ile11798=)
c.34827A= (p.Ile11609=)
c.32169A= (p.Ile10723=)
c.32088A= (p.Ile10696=)
c.13851A= (p.Ile4617=)
c.3705A= (p.Ile1235=)
2g.178636772A=CA1310558450TTNc.33251T= (p.Ile11084=)
c.14336T= (p.Ile4779=)
c.14135T= (p.Ile4712=)
c.2867T= (p.Ile956=)
c.13760T= (p.Ile4587=)
c.40955T= (p.Ile13652=)
c.36032T= (p.Ile12011=)
c.40052T= (p.Ile13351=)
c.13946T= (p.Ile4649=)
c.13805T= (p.Ile4602=)
c.39848T= (p.Ile13283=)
c.35246T= (p.Ile11749=)
c.35243T= (p.Ile11748=)
c.32285T= (p.Ile10762=)
c.13901T= (p.Ile4634=)
c.35396T= (p.Ile11799=)
c.35393T= (p.Ile11798=)
c.34826T= (p.Ile11609=)
c.32168T= (p.Ile10723=)
c.32087T= (p.Ile10696=)
c.13850T= (p.Ile4617=)
c.3704T= (p.Ile1235=)
2g.178636772A>CCA349661960TTNc.33251T>G (p.Ile11084Arg)
c.14336T>G (p.Ile4779Arg)
c.14135T>G (p.Ile4712Arg)
c.2867T>G (p.Ile956Arg)
c.13760T>G (p.Ile4587Arg)
c.40955T>G (p.Ile13652Arg)
c.36032T>G (p.Ile12011Arg)
c.40052T>G (p.Ile13351Arg)
c.13946T>G (p.Ile4649Arg)
c.13805T>G (p.Ile4602Arg)
c.39848T>G (p.Ile13283Arg)
c.35246T>G (p.Ile11749Arg)
c.35243T>G (p.Ile11748Arg)
c.32285T>G (p.Ile10762Arg)
c.13901T>G (p.Ile4634Arg)
c.35396T>G (p.Ile11799Arg)
c.35393T>G (p.Ile11798Arg)
c.34826T>G (p.Ile11609Arg)
c.32168T>G (p.Ile10723Arg)
c.32087T>G (p.Ile10696Arg)
c.13850T>G (p.Ile4617Arg)
c.3704T>G (p.Ile1235Arg)
2g.178636772A>GCA349661961TTNc.33251T>C (p.Ile11084Thr)
c.14336T>C (p.Ile4779Thr)
c.14135T>C (p.Ile4712Thr)
c.2867T>C (p.Ile956Thr)
c.13760T>C (p.Ile4587Thr)
c.40955T>C (p.Ile13652Thr)
c.36032T>C (p.Ile12011Thr)
c.40052T>C (p.Ile13351Thr)
c.13946T>C (p.Ile4649Thr)
c.13805T>C (p.Ile4602Thr)
c.39848T>C (p.Ile13283Thr)
c.35246T>C (p.Ile11749Thr)
c.35243T>C (p.Ile11748Thr)
c.32285T>C (p.Ile10762Thr)
c.13901T>C (p.Ile4634Thr)
c.35396T>C (p.Ile11799Thr)
c.35393T>C (p.Ile11798Thr)
c.34826T>C (p.Ile11609Thr)
c.32168T>C (p.Ile10723Thr)
c.32087T>C (p.Ile10696Thr)
c.13850T>C (p.Ile4617Thr)
c.3704T>C (p.Ile1235Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.178636772A>TCA349661962TTNc.33251T>A (p.Ile11084Lys)
c.14336T>A (p.Ile4779Lys)
c.14135T>A (p.Ile4712Lys)
c.2867T>A (p.Ile956Lys)
c.13760T>A (p.Ile4587Lys)
c.40955T>A (p.Ile13652Lys)
c.36032T>A (p.Ile12011Lys)
c.40052T>A (p.Ile13351Lys)
c.13946T>A (p.Ile4649Lys)
c.13805T>A (p.Ile4602Lys)
c.39848T>A (p.Ile13283Lys)
c.35246T>A (p.Ile11749Lys)
c.35243T>A (p.Ile11748Lys)
c.32285T>A (p.Ile10762Lys)
c.13901T>A (p.Ile4634Lys)
c.35396T>A (p.Ile11799Lys)
c.35393T>A (p.Ile11798Lys)
c.34826T>A (p.Ile11609Lys)
c.32168T>A (p.Ile10723Lys)
c.32087T>A (p.Ile10696Lys)
c.13850T>A (p.Ile4617Lys)
c.3704T>A (p.Ile1235Lys)
2g.178636773T>ACA349661963TTNc.33250A>T (p.Ile11084Leu)
c.14335A>T (p.Ile4779Leu)
c.14134A>T (p.Ile4712Leu)
c.2866A>T (p.Ile956Leu)
c.13759A>T (p.Ile4587Leu)
c.40954A>T (p.Ile13652Leu)
c.36031A>T (p.Ile12011Leu)
c.40051A>T (p.Ile13351Leu)
c.13945A>T (p.Ile4649Leu)
c.13804A>T (p.Ile4602Leu)
c.39847A>T (p.Ile13283Leu)
c.35245A>T (p.Ile11749Leu)
c.35242A>T (p.Ile11748Leu)
c.32284A>T (p.Ile10762Leu)
c.13900A>T (p.Ile4634Leu)
c.35395A>T (p.Ile11799Leu)
c.35392A>T (p.Ile11798Leu)
c.34825A>T (p.Ile11609Leu)
c.32167A>T (p.Ile10723Leu)
c.32086A>T (p.Ile10696Leu)
c.13849A>T (p.Ile4617Leu)
c.3703A>T (p.Ile1235Leu)
2g.178636773T>CCA349661964TTNc.33250A>G (p.Ile11084Val)
c.14335A>G (p.Ile4779Val)
c.14134A>G (p.Ile4712Val)
c.2866A>G (p.Ile956Val)
c.13759A>G (p.Ile4587Val)
c.40954A>G (p.Ile13652Val)
c.36031A>G (p.Ile12011Val)
c.40051A>G (p.Ile13351Val)
c.13945A>G (p.Ile4649Val)
c.13804A>G (p.Ile4602Val)
c.39847A>G (p.Ile13283Val)
c.35245A>G (p.Ile11749Val)
c.35242A>G (p.Ile11748Val)
c.32284A>G (p.Ile10762Val)
c.13900A>G (p.Ile4634Val)
c.35395A>G (p.Ile11799Val)
c.35392A>G (p.Ile11798Val)
c.34825A>G (p.Ile11609Val)
c.32167A>G (p.Ile10723Val)
c.32086A>G (p.Ile10696Val)
c.13849A>G (p.Ile4617Val)
c.3703A>G (p.Ile1235Val)
 gnomAD v4
2g.178636773T>GCA349661965TTNc.33250A>C (p.Ile11084Leu)
c.14335A>C (p.Ile4779Leu)
c.14134A>C (p.Ile4712Leu)
c.2866A>C (p.Ile956Leu)
c.13759A>C (p.Ile4587Leu)
c.40954A>C (p.Ile13652Leu)
c.36031A>C (p.Ile12011Leu)
c.40051A>C (p.Ile13351Leu)
c.13945A>C (p.Ile4649Leu)
c.13804A>C (p.Ile4602Leu)
c.39847A>C (p.Ile13283Leu)
c.35245A>C (p.Ile11749Leu)
c.35242A>C (p.Ile11748Leu)
c.32284A>C (p.Ile10762Leu)
c.13900A>C (p.Ile4634Leu)
c.35395A>C (p.Ile11799Leu)
c.35392A>C (p.Ile11798Leu)
c.34825A>C (p.Ile11609Leu)
c.32167A>C (p.Ile10723Leu)
c.32086A>C (p.Ile10696Leu)
c.13849A>C (p.Ile4617Leu)
c.3703A>C (p.Ile1235Leu)
2g.178636774T>ACA430114972TTNc.33249A>T (p.Pro11083=)
c.14334A>T (p.Pro4778=)
c.14133A>T (p.Pro4711=)
c.2865A>T (p.Pro955=)
c.13758A>T (p.Pro4586=)
c.40953A>T (p.Pro13651=)
c.36030A>T (p.Pro12010=)
c.40050A>T (p.Pro13350=)
c.13944A>T (p.Pro4648=)
c.13803A>T (p.Pro4601=)
c.39846A>T (p.Pro13282=)
c.35244A>T (p.Pro11748=)
c.35241A>T (p.Pro11747=)
c.32283A>T (p.Pro10761=)
c.13899A>T (p.Pro4633=)
c.35394A>T (p.Pro11798=)
c.35391A>T (p.Pro11797=)
c.34824A>T (p.Pro11608=)
c.32166A>T (p.Pro10722=)
c.32085A>T (p.Pro10695=)
c.13848A>T (p.Pro4616=)
c.3702A>T (p.Pro1234=)
2g.178636774T>CCA430114974TTNc.33249A>G (p.Pro11083=)
c.14334A>G (p.Pro4778=)
c.14133A>G (p.Pro4711=)
c.2865A>G (p.Pro955=)
c.13758A>G (p.Pro4586=)
c.40953A>G (p.Pro13651=)
c.36030A>G (p.Pro12010=)
c.40050A>G (p.Pro13350=)
c.13944A>G (p.Pro4648=)
c.13803A>G (p.Pro4601=)
c.39846A>G (p.Pro13282=)
c.35244A>G (p.Pro11748=)
c.35241A>G (p.Pro11747=)
c.32283A>G (p.Pro10761=)
c.13899A>G (p.Pro4633=)
c.35394A>G (p.Pro11798=)
c.35391A>G (p.Pro11797=)
c.34824A>G (p.Pro11608=)
c.32166A>G (p.Pro10722=)
c.32085A>G (p.Pro10695=)
c.13848A>G (p.Pro4616=)
c.3702A>G (p.Pro1234=)
2g.178636774T>GCA430114975TTNc.33249A>C (p.Pro11083=)
c.14334A>C (p.Pro4778=)
c.14133A>C (p.Pro4711=)
c.2865A>C (p.Pro955=)
c.13758A>C (p.Pro4586=)
c.40953A>C (p.Pro13651=)
c.36030A>C (p.Pro12010=)
c.40050A>C (p.Pro13350=)
c.13944A>C (p.Pro4648=)
c.13803A>C (p.Pro4601=)
c.39846A>C (p.Pro13282=)
c.35244A>C (p.Pro11748=)
c.35241A>C (p.Pro11747=)
c.32283A>C (p.Pro10761=)
c.13899A>C (p.Pro4633=)
c.35394A>C (p.Pro11798=)
c.35391A>C (p.Pro11797=)
c.34824A>C (p.Pro11608=)
c.32166A>C (p.Pro10722=)
c.32085A>C (p.Pro10695=)
c.13848A>C (p.Pro4616=)
c.3702A>C (p.Pro1234=)
2g.178636776_178636778delCA2662136144TTNc.33247_33249del (p.Pro11083del)
c.14332_14334del (p.Pro4778del)
c.14131_14133del (p.Pro4711del)
c.2863_2865del (p.Pro955del)
c.13756_13758del (p.Pro4586del)
c.40951_40953del (p.Pro13651del)
c.36028_36030del (p.Pro12010del)
c.40048_40050del (p.Pro13350del)
c.13942_13944del (p.Pro4648del)
c.13801_13803del (p.Pro4601del)
c.39844_39846del (p.Pro13282del)
c.35242_35244del (p.Pro11748del)
c.35239_35241del (p.Pro11747del)
c.32281_32283del (p.Pro10761del)
c.13897_13899del (p.Pro4633del)
c.35392_35394del (p.Pro11798del)
c.35389_35391del (p.Pro11797del)
c.34822_34824del (p.Pro11608del)
c.32164_32166del (p.Pro10722del)
c.32083_32085del (p.Pro10695del)
c.13846_13848del (p.Pro4616del)
c.3700_3702del (p.Pro1234del)
 gnomAD v4
2g.178636775G>ACA349661967TTNc.33248C>T (p.Pro11083Leu)
c.14333C>T (p.Pro4778Leu)
c.14132C>T (p.Pro4711Leu)
c.2864C>T (p.Pro955Leu)
c.13757C>T (p.Pro4586Leu)
c.40952C>T (p.Pro13651Leu)
c.36029C>T (p.Pro12010Leu)
c.40049C>T (p.Pro13350Leu)
c.13943C>T (p.Pro4648Leu)
c.13802C>T (p.Pro4601Leu)
c.39845C>T (p.Pro13282Leu)
c.35243C>T (p.Pro11748Leu)
c.35240C>T (p.Pro11747Leu)
c.32282C>T (p.Pro10761Leu)
c.13898C>T (p.Pro4633Leu)
c.35393C>T (p.Pro11798Leu)
c.35390C>T (p.Pro11797Leu)
c.34823C>T (p.Pro11608Leu)
c.32165C>T (p.Pro10722Leu)
c.32084C>T (p.Pro10695Leu)
c.13847C>T (p.Pro4616Leu)
c.3701C>T (p.Pro1234Leu)
2g.178636775G>CCA349661968TTNc.33248C>G (p.Pro11083Arg)
c.14333C>G (p.Pro4778Arg)
c.14132C>G (p.Pro4711Arg)
c.2864C>G (p.Pro955Arg)
c.13757C>G (p.Pro4586Arg)
c.40952C>G (p.Pro13651Arg)
c.36029C>G (p.Pro12010Arg)
c.40049C>G (p.Pro13350Arg)
c.13943C>G (p.Pro4648Arg)
c.13802C>G (p.Pro4601Arg)
c.39845C>G (p.Pro13282Arg)
c.35243C>G (p.Pro11748Arg)
c.35240C>G (p.Pro11747Arg)
c.32282C>G (p.Pro10761Arg)
c.13898C>G (p.Pro4633Arg)
c.35393C>G (p.Pro11798Arg)
c.35390C>G (p.Pro11797Arg)
c.34823C>G (p.Pro11608Arg)
c.32165C>G (p.Pro10722Arg)
c.32084C>G (p.Pro10695Arg)
c.13847C>G (p.Pro4616Arg)
c.3701C>G (p.Pro1234Arg)
2g.178636775G>TCA349661970TTNc.33248C>A (p.Pro11083Gln)
c.14333C>A (p.Pro4778Gln)
c.14132C>A (p.Pro4711Gln)
c.2864C>A (p.Pro955Gln)
c.13757C>A (p.Pro4586Gln)
c.40952C>A (p.Pro13651Gln)
c.36029C>A (p.Pro12010Gln)
c.40049C>A (p.Pro13350Gln)
c.13943C>A (p.Pro4648Gln)
c.13802C>A (p.Pro4601Gln)
c.39845C>A (p.Pro13282Gln)
c.35243C>A (p.Pro11748Gln)
c.35240C>A (p.Pro11747Gln)
c.32282C>A (p.Pro10761Gln)
c.13898C>A (p.Pro4633Gln)
c.35393C>A (p.Pro11798Gln)
c.35390C>A (p.Pro11797Gln)
c.34823C>A (p.Pro11608Gln)
c.32165C>A (p.Pro10722Gln)
c.32084C>A (p.Pro10695Gln)
c.13847C>A (p.Pro4616Gln)
c.3701C>A (p.Pro1234Gln)
 gnomAD v4
2g.178636776G>ACA61007924TTNc.33247C>T (p.Pro11083Ser)
c.14332C>T (p.Pro4778Ser)
c.14131C>T (p.Pro4711Ser)
c.2863C>T (p.Pro955Ser)
c.13756C>T (p.Pro4586Ser)
c.40951C>T (p.Pro13651Ser)
c.36028C>T (p.Pro12010Ser)
c.40048C>T (p.Pro13350Ser)
c.13942C>T (p.Pro4648Ser)
c.13801C>T (p.Pro4601Ser)
c.39844C>T (p.Pro13282Ser)
c.35242C>T (p.Pro11748Ser)
c.35239C>T (p.Pro11747Ser)
c.32281C>T (p.Pro10761Ser)
c.13897C>T (p.Pro4633Ser)
c.35392C>T (p.Pro11798Ser)
c.35389C>T (p.Pro11797Ser)
c.34822C>T (p.Pro11608Ser)
c.32164C>T (p.Pro10722Ser)
c.32083C>T (p.Pro10695Ser)
c.13846C>T (p.Pro4616Ser)
c.3700C>T (p.Pro1234Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.178636776G>CCA349661972TTNc.33247C>G (p.Pro11083Ala)
c.14332C>G (p.Pro4778Ala)
c.14131C>G (p.Pro4711Ala)
c.2863C>G (p.Pro955Ala)
c.13756C>G (p.Pro4586Ala)
c.40951C>G (p.Pro13651Ala)
c.36028C>G (p.Pro12010Ala)
c.40048C>G (p.Pro13350Ala)
c.13942C>G (p.Pro4648Ala)
c.13801C>G (p.Pro4601Ala)
c.39844C>G (p.Pro13282Ala)
c.35242C>G (p.Pro11748Ala)
c.35239C>G (p.Pro11747Ala)
c.32281C>G (p.Pro10761Ala)
c.13897C>G (p.Pro4633Ala)
c.35392C>G (p.Pro11798Ala)
c.35389C>G (p.Pro11797Ala)
c.34822C>G (p.Pro11608Ala)
c.32164C>G (p.Pro10722Ala)
c.32083C>G (p.Pro10695Ala)
c.13846C>G (p.Pro4616Ala)
c.3700C>G (p.Pro1234Ala)
2g.178636776G=CA1310558451TTNc.33247C= (p.Pro11083=)
c.14332C= (p.Pro4778=)
c.14131C= (p.Pro4711=)
c.2863C= (p.Pro955=)
c.13756C= (p.Pro4586=)
c.40951C= (p.Pro13651=)
c.36028C= (p.Pro12010=)
c.40048C= (p.Pro13350=)
c.13942C= (p.Pro4648=)
c.13801C= (p.Pro4601=)
c.39844C= (p.Pro13282=)
c.35242C= (p.Pro11748=)
c.35239C= (p.Pro11747=)
c.32281C= (p.Pro10761=)
c.13897C= (p.Pro4633=)
c.35392C= (p.Pro11798=)
c.35389C= (p.Pro11797=)
c.34822C= (p.Pro11608=)
c.32164C= (p.Pro10722=)
c.32083C= (p.Pro10695=)
c.13846C= (p.Pro4616=)
c.3700C= (p.Pro1234=)
2g.178636776G>TCA1996332TTNc.33247C>A (p.Pro11083Thr)
c.14332C>A (p.Pro4778Thr)
c.14131C>A (p.Pro4711Thr)
c.2863C>A (p.Pro955Thr)
c.13756C>A (p.Pro4586Thr)
c.40951C>A (p.Pro13651Thr)
c.36028C>A (p.Pro12010Thr)
c.40048C>A (p.Pro13350Thr)
c.13942C>A (p.Pro4648Thr)
c.13801C>A (p.Pro4601Thr)
c.39844C>A (p.Pro13282Thr)
c.35242C>A (p.Pro11748Thr)
c.35239C>A (p.Pro11747Thr)
c.32281C>A (p.Pro10761Thr)
c.13897C>A (p.Pro4633Thr)
c.35392C>A (p.Pro11798Thr)
c.35389C>A (p.Pro11797Thr)
c.34822C>A (p.Pro11608Thr)
c.32164C>A (p.Pro10722Thr)
c.32083C>A (p.Pro10695Thr)
c.13846C>A (p.Pro4616Thr)
c.3700C>A (p.Pro1234Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178636777T>ACA430114980TTNc.33246A>T (p.Ser11082=)
c.14331A>T (p.Ser4777=)
c.14130A>T (p.Ser4710=)
c.2862A>T (p.Ser954=)
c.13755A>T (p.Ser4585=)
c.40950A>T (p.Ser13650=)
c.36027A>T (p.Ser12009=)
c.40047A>T (p.Ser13349=)
c.13941A>T (p.Ser4647=)
c.13800A>T (p.Ser4600=)
c.39843A>T (p.Ser13281=)
c.35241A>T (p.Ser11747=)
c.35238A>T (p.Ser11746=)
c.32280A>T (p.Ser10760=)
c.13896A>T (p.Ser4632=)
c.35391A>T (p.Ser11797=)
c.35388A>T (p.Ser11796=)
c.34821A>T (p.Ser11607=)
c.32163A>T (p.Ser10721=)
c.32082A>T (p.Ser10694=)
c.13845A>T (p.Ser4615=)
c.3699A>T (p.Ser1233=)
 gnomAD v4
2g.178636777T>CCA1996333TTNc.33246A>G (p.Ser11082=)
c.14331A>G (p.Ser4777=)
c.14130A>G (p.Ser4710=)
c.2862A>G (p.Ser954=)
c.13755A>G (p.Ser4585=)
c.40950A>G (p.Ser13650=)
c.36027A>G (p.Ser12009=)
c.40047A>G (p.Ser13349=)
c.13941A>G (p.Ser4647=)
c.13800A>G (p.Ser4600=)
c.39843A>G (p.Ser13281=)
c.35241A>G (p.Ser11747=)
c.35238A>G (p.Ser11746=)
c.32280A>G (p.Ser10760=)
c.13896A>G (p.Ser4632=)
c.35391A>G (p.Ser11797=)
c.35388A>G (p.Ser11796=)
c.34821A>G (p.Ser11607=)
c.32163A>G (p.Ser10721=)
c.32082A>G (p.Ser10694=)
c.13845A>G (p.Ser4615=)
c.3699A>G (p.Ser1233=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178636777T>GCA1996334TTNc.33246A>C (p.Ser11082=)
c.14331A>C (p.Ser4777=)
c.14130A>C (p.Ser4710=)
c.2862A>C (p.Ser954=)
c.13755A>C (p.Ser4585=)
c.40950A>C (p.Ser13650=)
c.36027A>C (p.Ser12009=)
c.40047A>C (p.Ser13349=)
c.13941A>C (p.Ser4647=)
c.13800A>C (p.Ser4600=)
c.39843A>C (p.Ser13281=)
c.35241A>C (p.Ser11747=)
c.35238A>C (p.Ser11746=)
c.32280A>C (p.Ser10760=)
c.13896A>C (p.Ser4632=)
c.35391A>C (p.Ser11797=)
c.35388A>C (p.Ser11796=)
c.34821A>C (p.Ser11607=)
c.32163A>C (p.Ser10721=)
c.32082A>C (p.Ser10694=)
c.13845A>C (p.Ser4615=)
c.3699A>C (p.Ser1233=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178636777T=CA1310558452TTNc.33246A= (p.Ser11082=)
c.14331A= (p.Ser4777=)
c.14130A= (p.Ser4710=)
c.2862A= (p.Ser954=)
c.13755A= (p.Ser4585=)
c.40950A= (p.Ser13650=)
c.36027A= (p.Ser12009=)
c.40047A= (p.Ser13349=)
c.13941A= (p.Ser4647=)
c.13800A= (p.Ser4600=)
c.39843A= (p.Ser13281=)
c.35241A= (p.Ser11747=)
c.35238A= (p.Ser11746=)
c.32280A= (p.Ser10760=)
c.13896A= (p.Ser4632=)
c.35391A= (p.Ser11797=)
c.35388A= (p.Ser11796=)
c.34821A= (p.Ser11607=)
c.32163A= (p.Ser10721=)
c.32082A= (p.Ser10694=)
c.13845A= (p.Ser4615=)
c.3699A= (p.Ser1233=)
2g.178636778G>ACA349661976TTNc.33245C>T (p.Ser11082Leu)
c.14330C>T (p.Ser4777Leu)
c.14129C>T (p.Ser4710Leu)
c.2861C>T (p.Ser954Leu)
c.13754C>T (p.Ser4585Leu)
c.40949C>T (p.Ser13650Leu)
c.36026C>T (p.Ser12009Leu)
c.40046C>T (p.Ser13349Leu)
c.13940C>T (p.Ser4647Leu)
c.13799C>T (p.Ser4600Leu)
c.39842C>T (p.Ser13281Leu)
c.35240C>T (p.Ser11747Leu)
c.35237C>T (p.Ser11746Leu)
c.32279C>T (p.Ser10760Leu)
c.13895C>T (p.Ser4632Leu)
c.35390C>T (p.Ser11797Leu)
c.35387C>T (p.Ser11796Leu)
c.34820C>T (p.Ser11607Leu)
c.32162C>T (p.Ser10721Leu)
c.32081C>T (p.Ser10694Leu)
c.13844C>T (p.Ser4615Leu)
c.3698C>T (p.Ser1233Leu)

Number of alleles fetched