Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178620330C>ACA349628870TTNc.38487G>T (p.Leu12829Phe)
c.19572G>T (p.Leu6524Phe)
c.19371G>T (p.Leu6457Phe)
c.18996G>T (p.Leu6332Phe)
c.46191G>T (p.Leu15397Phe)
c.41268G>T (p.Leu13756Phe)
c.45288G>T (p.Leu15096Phe)
c.19182G>T (p.Leu6394Phe)
c.19041G>T (p.Leu6347Phe)
c.45084G>T (p.Leu15028Phe)
c.40482G>T (p.Leu13494Phe)
c.40479G>T (p.Leu13493Phe)
c.37521G>T (p.Leu12507Phe)
c.19137G>T (p.Leu6379Phe)
c.40632G>T (p.Leu13544Phe)
c.40629G>T (p.Leu13543Phe)
c.40062G>T (p.Leu13354Phe)
c.37404G>T (p.Leu12468Phe)
c.37323G>T (p.Leu12441Phe)
c.19086G>T (p.Leu6362Phe)
c.8940G>T (p.Leu2980Phe)
2g.178620330C>GCA349628873TTNc.38487G>C (p.Leu12829Phe)
c.19572G>C (p.Leu6524Phe)
c.19371G>C (p.Leu6457Phe)
c.18996G>C (p.Leu6332Phe)
c.46191G>C (p.Leu15397Phe)
c.41268G>C (p.Leu13756Phe)
c.45288G>C (p.Leu15096Phe)
c.19182G>C (p.Leu6394Phe)
c.19041G>C (p.Leu6347Phe)
c.45084G>C (p.Leu15028Phe)
c.40482G>C (p.Leu13494Phe)
c.40479G>C (p.Leu13493Phe)
c.37521G>C (p.Leu12507Phe)
c.19137G>C (p.Leu6379Phe)
c.40632G>C (p.Leu13544Phe)
c.40629G>C (p.Leu13543Phe)
c.40062G>C (p.Leu13354Phe)
c.37404G>C (p.Leu12468Phe)
c.37323G>C (p.Leu12441Phe)
c.19086G>C (p.Leu6362Phe)
c.8940G>C (p.Leu2980Phe)
2g.178620330C>TCA430275260TTNc.38487G>A (p.Leu12829=)
c.19572G>A (p.Leu6524=)
c.19371G>A (p.Leu6457=)
c.18996G>A (p.Leu6332=)
c.46191G>A (p.Leu15397=)
c.41268G>A (p.Leu13756=)
c.45288G>A (p.Leu15096=)
c.19182G>A (p.Leu6394=)
c.19041G>A (p.Leu6347=)
c.45084G>A (p.Leu15028=)
c.40482G>A (p.Leu13494=)
c.40479G>A (p.Leu13493=)
c.37521G>A (p.Leu12507=)
c.19137G>A (p.Leu6379=)
c.40632G>A (p.Leu13544=)
c.40629G>A (p.Leu13543=)
c.40062G>A (p.Leu13354=)
c.37404G>A (p.Leu12468=)
c.37323G>A (p.Leu12441=)
c.19086G>A (p.Leu6362=)
c.8940G>A (p.Leu2980=)
2g.178620331A=CA1310551744TTNc.38486T= (p.Leu12829=)
c.19571T= (p.Leu6524=)
c.19370T= (p.Leu6457=)
c.18995T= (p.Leu6332=)
c.46190T= (p.Leu15397=)
c.41267T= (p.Leu13756=)
c.45287T= (p.Leu15096=)
c.19181T= (p.Leu6394=)
c.19040T= (p.Leu6347=)
c.45083T= (p.Leu15028=)
c.40481T= (p.Leu13494=)
c.40478T= (p.Leu13493=)
c.37520T= (p.Leu12507=)
c.19136T= (p.Leu6379=)
c.40631T= (p.Leu13544=)
c.40628T= (p.Leu13543=)
c.40061T= (p.Leu13354=)
c.37403T= (p.Leu12468=)
c.37322T= (p.Leu12441=)
c.19085T= (p.Leu6362=)
c.8939T= (p.Leu2980=)
2g.178620331A>CCA349628875TTNc.38486T>G (p.Leu12829Trp)
c.19571T>G (p.Leu6524Trp)
c.19370T>G (p.Leu6457Trp)
c.18995T>G (p.Leu6332Trp)
c.46190T>G (p.Leu15397Trp)
c.41267T>G (p.Leu13756Trp)
c.45287T>G (p.Leu15096Trp)
c.19181T>G (p.Leu6394Trp)
c.19040T>G (p.Leu6347Trp)
c.45083T>G (p.Leu15028Trp)
c.40481T>G (p.Leu13494Trp)
c.40478T>G (p.Leu13493Trp)
c.37520T>G (p.Leu12507Trp)
c.19136T>G (p.Leu6379Trp)
c.40631T>G (p.Leu13544Trp)
c.40628T>G (p.Leu13543Trp)
c.40061T>G (p.Leu13354Trp)
c.37403T>G (p.Leu12468Trp)
c.37322T>G (p.Leu12441Trp)
c.19085T>G (p.Leu6362Trp)
c.8939T>G (p.Leu2980Trp)
 dbSNP
2g.178620331A>GCA349628877TTNc.38486T>C (p.Leu12829Ser)
c.19571T>C (p.Leu6524Ser)
c.19370T>C (p.Leu6457Ser)
c.18995T>C (p.Leu6332Ser)
c.46190T>C (p.Leu15397Ser)
c.41267T>C (p.Leu13756Ser)
c.45287T>C (p.Leu15096Ser)
c.19181T>C (p.Leu6394Ser)
c.19040T>C (p.Leu6347Ser)
c.45083T>C (p.Leu15028Ser)
c.40481T>C (p.Leu13494Ser)
c.40478T>C (p.Leu13493Ser)
c.37520T>C (p.Leu12507Ser)
c.19136T>C (p.Leu6379Ser)
c.40631T>C (p.Leu13544Ser)
c.40628T>C (p.Leu13543Ser)
c.40061T>C (p.Leu13354Ser)
c.37403T>C (p.Leu12468Ser)
c.37322T>C (p.Leu12441Ser)
c.19085T>C (p.Leu6362Ser)
c.8939T>C (p.Leu2980Ser)
2g.178620331A>TCA349628880TTNc.38486T>A (p.Leu12829Ter)
c.19571T>A (p.Leu6524Ter)
c.19370T>A (p.Leu6457Ter)
c.18995T>A (p.Leu6332Ter)
c.46190T>A (p.Leu15397Ter)
c.41267T>A (p.Leu13756Ter)
c.45287T>A (p.Leu15096Ter)
c.19181T>A (p.Leu6394Ter)
c.19040T>A (p.Leu6347Ter)
c.45083T>A (p.Leu15028Ter)
c.40481T>A (p.Leu13494Ter)
c.40478T>A (p.Leu13493Ter)
c.37520T>A (p.Leu12507Ter)
c.19136T>A (p.Leu6379Ter)
c.40631T>A (p.Leu13544Ter)
c.40628T>A (p.Leu13543Ter)
c.40061T>A (p.Leu13354Ter)
c.37403T>A (p.Leu12468Ter)
c.37322T>A (p.Leu12441Ter)
c.19085T>A (p.Leu6362Ter)
c.8939T>A (p.Leu2980Ter)
2g.178620332A=CA1310551745TTNc.38485T= (p.Leu12829=)
c.19570T= (p.Leu6524=)
c.19369T= (p.Leu6457=)
c.18994T= (p.Leu6332=)
c.46189T= (p.Leu15397=)
c.41266T= (p.Leu13756=)
c.45286T= (p.Leu15096=)
c.19180T= (p.Leu6394=)
c.19039T= (p.Leu6347=)
c.45082T= (p.Leu15028=)
c.40480T= (p.Leu13494=)
c.40477T= (p.Leu13493=)
c.37519T= (p.Leu12507=)
c.19135T= (p.Leu6379=)
c.40630T= (p.Leu13544=)
c.40627T= (p.Leu13543=)
c.40060T= (p.Leu13354=)
c.37402T= (p.Leu12468=)
c.37321T= (p.Leu12441=)
c.19084T= (p.Leu6362=)
c.8938T= (p.Leu2980=)
2g.178620332A>CCA349628883TTNc.38485T>G (p.Leu12829Val)
c.19570T>G (p.Leu6524Val)
c.19369T>G (p.Leu6457Val)
c.18994T>G (p.Leu6332Val)
c.46189T>G (p.Leu15397Val)
c.41266T>G (p.Leu13756Val)
c.45286T>G (p.Leu15096Val)
c.19180T>G (p.Leu6394Val)
c.19039T>G (p.Leu6347Val)
c.45082T>G (p.Leu15028Val)
c.40480T>G (p.Leu13494Val)
c.40477T>G (p.Leu13493Val)
c.37519T>G (p.Leu12507Val)
c.19135T>G (p.Leu6379Val)
c.40630T>G (p.Leu13544Val)
c.40627T>G (p.Leu13543Val)
c.40060T>G (p.Leu13354Val)
c.37402T>G (p.Leu12468Val)
c.37321T>G (p.Leu12441Val)
c.19084T>G (p.Leu6362Val)
c.8938T>G (p.Leu2980Val)
2g.178620332A>GCA430275262TTNc.38485T>C (p.Leu12829=)
c.19570T>C (p.Leu6524=)
c.19369T>C (p.Leu6457=)
c.18994T>C (p.Leu6332=)
c.46189T>C (p.Leu15397=)
c.41266T>C (p.Leu13756=)
c.45286T>C (p.Leu15096=)
c.19180T>C (p.Leu6394=)
c.19039T>C (p.Leu6347=)
c.45082T>C (p.Leu15028=)
c.40480T>C (p.Leu13494=)
c.40477T>C (p.Leu13493=)
c.37519T>C (p.Leu12507=)
c.19135T>C (p.Leu6379=)
c.40630T>C (p.Leu13544=)
c.40627T>C (p.Leu13543=)
c.40060T>C (p.Leu13354=)
c.37402T>C (p.Leu12468=)
c.37321T>C (p.Leu12441=)
c.19084T>C (p.Leu6362=)
c.8938T>C (p.Leu2980=)
 dbSNP gnomAD v4
2g.178620332A>TCA349628884TTNc.38485T>A (p.Leu12829Met)
c.19570T>A (p.Leu6524Met)
c.19369T>A (p.Leu6457Met)
c.18994T>A (p.Leu6332Met)
c.46189T>A (p.Leu15397Met)
c.41266T>A (p.Leu13756Met)
c.45286T>A (p.Leu15096Met)
c.19180T>A (p.Leu6394Met)
c.19039T>A (p.Leu6347Met)
c.45082T>A (p.Leu15028Met)
c.40480T>A (p.Leu13494Met)
c.40477T>A (p.Leu13493Met)
c.37519T>A (p.Leu12507Met)
c.19135T>A (p.Leu6379Met)
c.40630T>A (p.Leu13544Met)
c.40627T>A (p.Leu13543Met)
c.40060T>A (p.Leu13354Met)
c.37402T>A (p.Leu12468Met)
c.37321T>A (p.Leu12441Met)
c.19084T>A (p.Leu6362Met)
c.8938T>A (p.Leu2980Met)
2g.178620333G>ACA430275267TTNc.38484C>T (p.His12828=)
c.19569C>T (p.His6523=)
c.19368C>T (p.His6456=)
c.18993C>T (p.His6331=)
c.46188C>T (p.His15396=)
c.41265C>T (p.His13755=)
c.45285C>T (p.His15095=)
c.19179C>T (p.His6393=)
c.19038C>T (p.His6346=)
c.45081C>T (p.His15027=)
c.40479C>T (p.His13493=)
c.40476C>T (p.His13492=)
c.37518C>T (p.His12506=)
c.19134C>T (p.His6378=)
c.40629C>T (p.His13543=)
c.40626C>T (p.His13542=)
c.40059C>T (p.His13353=)
c.37401C>T (p.His12467=)
c.37320C>T (p.His12440=)
c.19083C>T (p.His6361=)
c.8937C>T (p.His2979=)
 ClinVar gnomAD v4
2g.178620333G>CCA349628888TTNc.38484C>G (p.His12828Gln)
c.19569C>G (p.His6523Gln)
c.19368C>G (p.His6456Gln)
c.18993C>G (p.His6331Gln)
c.46188C>G (p.His15396Gln)
c.41265C>G (p.His13755Gln)
c.45285C>G (p.His15095Gln)
c.19179C>G (p.His6393Gln)
c.19038C>G (p.His6346Gln)
c.45081C>G (p.His15027Gln)
c.40479C>G (p.His13493Gln)
c.40476C>G (p.His13492Gln)
c.37518C>G (p.His12506Gln)
c.19134C>G (p.His6378Gln)
c.40629C>G (p.His13543Gln)
c.40626C>G (p.His13542Gln)
c.40059C>G (p.His13353Gln)
c.37401C>G (p.His12467Gln)
c.37320C>G (p.His12440Gln)
c.19083C>G (p.His6361Gln)
c.8937C>G (p.His2979Gln)
2g.178620333G>TCA349628890TTNc.38484C>A (p.His12828Gln)
c.19569C>A (p.His6523Gln)
c.19368C>A (p.His6456Gln)
c.18993C>A (p.His6331Gln)
c.46188C>A (p.His15396Gln)
c.41265C>A (p.His13755Gln)
c.45285C>A (p.His15095Gln)
c.19179C>A (p.His6393Gln)
c.19038C>A (p.His6346Gln)
c.45081C>A (p.His15027Gln)
c.40479C>A (p.His13493Gln)
c.40476C>A (p.His13492Gln)
c.37518C>A (p.His12506Gln)
c.19134C>A (p.His6378Gln)
c.40629C>A (p.His13543Gln)
c.40626C>A (p.His13542Gln)
c.40059C>A (p.His13353Gln)
c.37401C>A (p.His12467Gln)
c.37320C>A (p.His12440Gln)
c.19083C>A (p.His6361Gln)
c.8937C>A (p.His2979Gln)
2g.178620334T>ACA349628891TTNc.38483A>T (p.His12828Leu)
c.19568A>T (p.His6523Leu)
c.19367A>T (p.His6456Leu)
c.18992A>T (p.His6331Leu)
c.46187A>T (p.His15396Leu)
c.41264A>T (p.His13755Leu)
c.45284A>T (p.His15095Leu)
c.19178A>T (p.His6393Leu)
c.19037A>T (p.His6346Leu)
c.45080A>T (p.His15027Leu)
c.40478A>T (p.His13493Leu)
c.40475A>T (p.His13492Leu)
c.37517A>T (p.His12506Leu)
c.19133A>T (p.His6378Leu)
c.40628A>T (p.His13543Leu)
c.40625A>T (p.His13542Leu)
c.40058A>T (p.His13353Leu)
c.37400A>T (p.His12467Leu)
c.37319A>T (p.His12440Leu)
c.19082A>T (p.His6361Leu)
c.8936A>T (p.His2979Leu)
2g.178620334T>CCA349628892TTNc.38483A>G (p.His12828Arg)
c.19568A>G (p.His6523Arg)
c.19367A>G (p.His6456Arg)
c.18992A>G (p.His6331Arg)
c.46187A>G (p.His15396Arg)
c.41264A>G (p.His13755Arg)
c.45284A>G (p.His15095Arg)
c.19178A>G (p.His6393Arg)
c.19037A>G (p.His6346Arg)
c.45080A>G (p.His15027Arg)
c.40478A>G (p.His13493Arg)
c.40475A>G (p.His13492Arg)
c.37517A>G (p.His12506Arg)
c.19133A>G (p.His6378Arg)
c.40628A>G (p.His13543Arg)
c.40625A>G (p.His13542Arg)
c.40058A>G (p.His13353Arg)
c.37400A>G (p.His12467Arg)
c.37319A>G (p.His12440Arg)
c.19082A>G (p.His6361Arg)
c.8936A>G (p.His2979Arg)
2g.178620334T>GCA349628893TTNc.38483A>C (p.His12828Pro)
c.19568A>C (p.His6523Pro)
c.19367A>C (p.His6456Pro)
c.18992A>C (p.His6331Pro)
c.46187A>C (p.His15396Pro)
c.41264A>C (p.His13755Pro)
c.45284A>C (p.His15095Pro)
c.19178A>C (p.His6393Pro)
c.19037A>C (p.His6346Pro)
c.45080A>C (p.His15027Pro)
c.40478A>C (p.His13493Pro)
c.40475A>C (p.His13492Pro)
c.37517A>C (p.His12506Pro)
c.19133A>C (p.His6378Pro)
c.40628A>C (p.His13543Pro)
c.40625A>C (p.His13542Pro)
c.40058A>C (p.His13353Pro)
c.37400A>C (p.His12467Pro)
c.37319A>C (p.His12440Pro)
c.19082A>C (p.His6361Pro)
c.8936A>C (p.His2979Pro)
 gnomAD v4
2g.178620335G>ACA349628895TTNc.38482C>T (p.His12828Tyr)
c.19567C>T (p.His6523Tyr)
c.19366C>T (p.His6456Tyr)
c.18991C>T (p.His6331Tyr)
c.46186C>T (p.His15396Tyr)
c.41263C>T (p.His13755Tyr)
c.45283C>T (p.His15095Tyr)
c.19177C>T (p.His6393Tyr)
c.19036C>T (p.His6346Tyr)
c.45079C>T (p.His15027Tyr)
c.40477C>T (p.His13493Tyr)
c.40474C>T (p.His13492Tyr)
c.37516C>T (p.His12506Tyr)
c.19132C>T (p.His6378Tyr)
c.40627C>T (p.His13543Tyr)
c.40624C>T (p.His13542Tyr)
c.40057C>T (p.His13353Tyr)
c.37399C>T (p.His12467Tyr)
c.37318C>T (p.His12440Tyr)
c.19081C>T (p.His6361Tyr)
c.8935C>T (p.His2979Tyr)
2g.178620335G>CCA349628898TTNc.38482C>G (p.His12828Asp)
c.19567C>G (p.His6523Asp)
c.19366C>G (p.His6456Asp)
c.18991C>G (p.His6331Asp)
c.46186C>G (p.His15396Asp)
c.41263C>G (p.His13755Asp)
c.45283C>G (p.His15095Asp)
c.19177C>G (p.His6393Asp)
c.19036C>G (p.His6346Asp)
c.45079C>G (p.His15027Asp)
c.40477C>G (p.His13493Asp)
c.40474C>G (p.His13492Asp)
c.37516C>G (p.His12506Asp)
c.19132C>G (p.His6378Asp)
c.40627C>G (p.His13543Asp)
c.40624C>G (p.His13542Asp)
c.40057C>G (p.His13353Asp)
c.37399C>G (p.His12467Asp)
c.37318C>G (p.His12440Asp)
c.19081C>G (p.His6361Asp)
c.8935C>G (p.His2979Asp)
2g.178620335G>TCA349628901TTNc.38482C>A (p.His12828Asn)
c.19567C>A (p.His6523Asn)
c.19366C>A (p.His6456Asn)
c.18991C>A (p.His6331Asn)
c.46186C>A (p.His15396Asn)
c.41263C>A (p.His13755Asn)
c.45283C>A (p.His15095Asn)
c.19177C>A (p.His6393Asn)
c.19036C>A (p.His6346Asn)
c.45079C>A (p.His15027Asn)
c.40477C>A (p.His13493Asn)
c.40474C>A (p.His13492Asn)
c.37516C>A (p.His12506Asn)
c.19132C>A (p.His6378Asn)
c.40627C>A (p.His13543Asn)
c.40624C>A (p.His13542Asn)
c.40057C>A (p.His13353Asn)
c.37399C>A (p.His12467Asn)
c.37318C>A (p.His12440Asn)
c.19081C>A (p.His6361Asn)
c.8935C>A (p.His2979Asn)
2g.178620336T>ACA349628903TTNc.38481A>T (p.Glu12827Asp)
c.19566A>T (p.Glu6522Asp)
c.19365A>T (p.Glu6455Asp)
c.18990A>T (p.Glu6330Asp)
c.46185A>T (p.Glu15395Asp)
c.41262A>T (p.Glu13754Asp)
c.45282A>T (p.Glu15094Asp)
c.19176A>T (p.Glu6392Asp)
c.19035A>T (p.Glu6345Asp)
c.45078A>T (p.Glu15026Asp)
c.40476A>T (p.Glu13492Asp)
c.40473A>T (p.Glu13491Asp)
c.37515A>T (p.Glu12505Asp)
c.19131A>T (p.Glu6377Asp)
c.40626A>T (p.Glu13542Asp)
c.40623A>T (p.Glu13541Asp)
c.40056A>T (p.Glu13352Asp)
c.37398A>T (p.Glu12466Asp)
c.37317A>T (p.Glu12439Asp)
c.19080A>T (p.Glu6360Asp)
c.8934A>T (p.Glu2978Asp)
2g.178620336T>CCA430275269TTNc.38481A>G (p.Glu12827=)
c.19566A>G (p.Glu6522=)
c.19365A>G (p.Glu6455=)
c.18990A>G (p.Glu6330=)
c.46185A>G (p.Glu15395=)
c.41262A>G (p.Glu13754=)
c.45282A>G (p.Glu15094=)
c.19176A>G (p.Glu6392=)
c.19035A>G (p.Glu6345=)
c.45078A>G (p.Glu15026=)
c.40476A>G (p.Glu13492=)
c.40473A>G (p.Glu13491=)
c.37515A>G (p.Glu12505=)
c.19131A>G (p.Glu6377=)
c.40626A>G (p.Glu13542=)
c.40623A>G (p.Glu13541=)
c.40056A>G (p.Glu13352=)
c.37398A>G (p.Glu12466=)
c.37317A>G (p.Glu12439=)
c.19080A>G (p.Glu6360=)
c.8934A>G (p.Glu2978=)
2g.178620336T>GCA349628905TTNc.38481A>C (p.Glu12827Asp)
c.19566A>C (p.Glu6522Asp)
c.19365A>C (p.Glu6455Asp)
c.18990A>C (p.Glu6330Asp)
c.46185A>C (p.Glu15395Asp)
c.41262A>C (p.Glu13754Asp)
c.45282A>C (p.Glu15094Asp)
c.19176A>C (p.Glu6392Asp)
c.19035A>C (p.Glu6345Asp)
c.45078A>C (p.Glu15026Asp)
c.40476A>C (p.Glu13492Asp)
c.40473A>C (p.Glu13491Asp)
c.37515A>C (p.Glu12505Asp)
c.19131A>C (p.Glu6377Asp)
c.40626A>C (p.Glu13542Asp)
c.40623A>C (p.Glu13541Asp)
c.40056A>C (p.Glu13352Asp)
c.37398A>C (p.Glu12466Asp)
c.37317A>C (p.Glu12439Asp)
c.19080A>C (p.Glu6360Asp)
c.8934A>C (p.Glu2978Asp)
2g.178620337T>ACA349628907TTNc.38480A>T (p.Glu12827Val)
c.19565A>T (p.Glu6522Val)
c.19364A>T (p.Glu6455Val)
c.18989A>T (p.Glu6330Val)
c.46184A>T (p.Glu15395Val)
c.41261A>T (p.Glu13754Val)
c.45281A>T (p.Glu15094Val)
c.19175A>T (p.Glu6392Val)
c.19034A>T (p.Glu6345Val)
c.45077A>T (p.Glu15026Val)
c.40475A>T (p.Glu13492Val)
c.40472A>T (p.Glu13491Val)
c.37514A>T (p.Glu12505Val)
c.19130A>T (p.Glu6377Val)
c.40625A>T (p.Glu13542Val)
c.40622A>T (p.Glu13541Val)
c.40055A>T (p.Glu13352Val)
c.37397A>T (p.Glu12466Val)
c.37316A>T (p.Glu12439Val)
c.19079A>T (p.Glu6360Val)
c.8933A>T (p.Glu2978Val)
2g.178620337T>CCA349628910TTNc.38480A>G (p.Glu12827Gly)
c.19565A>G (p.Glu6522Gly)
c.19364A>G (p.Glu6455Gly)
c.18989A>G (p.Glu6330Gly)
c.46184A>G (p.Glu15395Gly)
c.41261A>G (p.Glu13754Gly)
c.45281A>G (p.Glu15094Gly)
c.19175A>G (p.Glu6392Gly)
c.19034A>G (p.Glu6345Gly)
c.45077A>G (p.Glu15026Gly)
c.40475A>G (p.Glu13492Gly)
c.40472A>G (p.Glu13491Gly)
c.37514A>G (p.Glu12505Gly)
c.19130A>G (p.Glu6377Gly)
c.40625A>G (p.Glu13542Gly)
c.40622A>G (p.Glu13541Gly)
c.40055A>G (p.Glu13352Gly)
c.37397A>G (p.Glu12466Gly)
c.37316A>G (p.Glu12439Gly)
c.19079A>G (p.Glu6360Gly)
c.8933A>G (p.Glu2978Gly)
 gnomAD v4
2g.178620337T>GCA349628913TTNc.38480A>C (p.Glu12827Ala)
c.19565A>C (p.Glu6522Ala)
c.19364A>C (p.Glu6455Ala)
c.18989A>C (p.Glu6330Ala)
c.46184A>C (p.Glu15395Ala)
c.41261A>C (p.Glu13754Ala)
c.45281A>C (p.Glu15094Ala)
c.19175A>C (p.Glu6392Ala)
c.19034A>C (p.Glu6345Ala)
c.45077A>C (p.Glu15026Ala)
c.40475A>C (p.Glu13492Ala)
c.40472A>C (p.Glu13491Ala)
c.37514A>C (p.Glu12505Ala)
c.19130A>C (p.Glu6377Ala)
c.40625A>C (p.Glu13542Ala)
c.40622A>C (p.Glu13541Ala)
c.40055A>C (p.Glu13352Ala)
c.37397A>C (p.Glu12466Ala)
c.37316A>C (p.Glu12439Ala)
c.19079A>C (p.Glu6360Ala)
c.8933A>C (p.Glu2978Ala)
 dbSNP
2g.178620338C>ACA349628916TTNc.38479G>T (p.Glu12827Ter)
c.19564G>T (p.Glu6522Ter)
c.19363G>T (p.Glu6455Ter)
c.18988G>T (p.Glu6330Ter)
c.46183G>T (p.Glu15395Ter)
c.41260G>T (p.Glu13754Ter)
c.45280G>T (p.Glu15094Ter)
c.19174G>T (p.Glu6392Ter)
c.19033G>T (p.Glu6345Ter)
c.45076G>T (p.Glu15026Ter)
c.40474G>T (p.Glu13492Ter)
c.40471G>T (p.Glu13491Ter)
c.37513G>T (p.Glu12505Ter)
c.19129G>T (p.Glu6377Ter)
c.40624G>T (p.Glu13542Ter)
c.40621G>T (p.Glu13541Ter)
c.40054G>T (p.Glu13352Ter)
c.37396G>T (p.Glu12466Ter)
c.37315G>T (p.Glu12439Ter)
c.19078G>T (p.Glu6360Ter)
c.8932G>T (p.Glu2978Ter)
2g.178620338C=CA1310551746TTNc.38479G= (p.Glu12827=)
c.19564G= (p.Glu6522=)
c.19363G= (p.Glu6455=)
c.18988G= (p.Glu6330=)
c.46183G= (p.Glu15395=)
c.41260G= (p.Glu13754=)
c.45280G= (p.Glu15094=)
c.19174G= (p.Glu6392=)
c.19033G= (p.Glu6345=)
c.45076G= (p.Glu15026=)
c.40474G= (p.Glu13492=)
c.40471G= (p.Glu13491=)
c.37513G= (p.Glu12505=)
c.19129G= (p.Glu6377=)
c.40624G= (p.Glu13542=)
c.40621G= (p.Glu13541=)
c.40054G= (p.Glu13352=)
c.37396G= (p.Glu12466=)
c.37315G= (p.Glu12439=)
c.19078G= (p.Glu6360=)
c.8932G= (p.Glu2978=)
2g.178620338C>GCA349628919TTNc.38479G>C (p.Glu12827Gln)
c.19564G>C (p.Glu6522Gln)
c.19363G>C (p.Glu6455Gln)
c.18988G>C (p.Glu6330Gln)
c.46183G>C (p.Glu15395Gln)
c.41260G>C (p.Glu13754Gln)
c.45280G>C (p.Glu15094Gln)
c.19174G>C (p.Glu6392Gln)
c.19033G>C (p.Glu6345Gln)
c.45076G>C (p.Glu15026Gln)
c.40474G>C (p.Glu13492Gln)
c.40471G>C (p.Glu13491Gln)
c.37513G>C (p.Glu12505Gln)
c.19129G>C (p.Glu6377Gln)
c.40624G>C (p.Glu13542Gln)
c.40621G>C (p.Glu13541Gln)
c.40054G>C (p.Glu13352Gln)
c.37396G>C (p.Glu12466Gln)
c.37315G>C (p.Glu12439Gln)
c.19078G>C (p.Glu6360Gln)
c.8932G>C (p.Glu2978Gln)
2g.178620338C>TCA1995291TTNc.38479G>A (p.Glu12827Lys)
c.19564G>A (p.Glu6522Lys)
c.19363G>A (p.Glu6455Lys)
c.18988G>A (p.Glu6330Lys)
c.46183G>A (p.Glu15395Lys)
c.41260G>A (p.Glu13754Lys)
c.45280G>A (p.Glu15094Lys)
c.19174G>A (p.Glu6392Lys)
c.19033G>A (p.Glu6345Lys)
c.45076G>A (p.Glu15026Lys)
c.40474G>A (p.Glu13492Lys)
c.40471G>A (p.Glu13491Lys)
c.37513G>A (p.Glu12505Lys)
c.19129G>A (p.Glu6377Lys)
c.40624G>A (p.Glu13542Lys)
c.40621G>A (p.Glu13541Lys)
c.40054G>A (p.Glu13352Lys)
c.37396G>A (p.Glu12466Lys)
c.37315G>A (p.Glu12439Lys)
c.19078G>A (p.Glu6360Lys)
c.8932G>A (p.Glu2978Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178620339C>ACA430275273TTNc.38478G>T (p.Val12826=)
c.19563G>T (p.Val6521=)
c.19362G>T (p.Val6454=)
c.18987G>T (p.Val6329=)
c.46182G>T (p.Val15394=)
c.41259G>T (p.Val13753=)
c.45279G>T (p.Val15093=)
c.19173G>T (p.Val6391=)
c.19032G>T (p.Val6344=)
c.45075G>T (p.Val15025=)
c.40473G>T (p.Val13491=)
c.40470G>T (p.Val13490=)
c.37512G>T (p.Val12504=)
c.19128G>T (p.Val6376=)
c.40623G>T (p.Val13541=)
c.40620G>T (p.Val13540=)
c.40053G>T (p.Val13351=)
c.37395G>T (p.Val12465=)
c.37314G>T (p.Val12438=)
c.19077G>T (p.Val6359=)
c.8931G>T (p.Val2977=)
2g.178620339C=CA1310551747TTNc.38478G= (p.Val12826=)
c.19563G= (p.Val6521=)
c.19362G= (p.Val6454=)
c.18987G= (p.Val6329=)
c.46182G= (p.Val15394=)
c.41259G= (p.Val13753=)
c.45279G= (p.Val15093=)
c.19173G= (p.Val6391=)
c.19032G= (p.Val6344=)
c.45075G= (p.Val15025=)
c.40473G= (p.Val13491=)
c.40470G= (p.Val13490=)
c.37512G= (p.Val12504=)
c.19128G= (p.Val6376=)
c.40623G= (p.Val13541=)
c.40620G= (p.Val13540=)
c.40053G= (p.Val13351=)
c.37395G= (p.Val12465=)
c.37314G= (p.Val12438=)
c.19077G= (p.Val6359=)
c.8931G= (p.Val2977=)
2g.178620339C>GCA430275274TTNc.38478G>C (p.Val12826=)
c.19563G>C (p.Val6521=)
c.19362G>C (p.Val6454=)
c.18987G>C (p.Val6329=)
c.46182G>C (p.Val15394=)
c.41259G>C (p.Val13753=)
c.45279G>C (p.Val15093=)
c.19173G>C (p.Val6391=)
c.19032G>C (p.Val6344=)
c.45075G>C (p.Val15025=)
c.40473G>C (p.Val13491=)
c.40470G>C (p.Val13490=)
c.37512G>C (p.Val12504=)
c.19128G>C (p.Val6376=)
c.40623G>C (p.Val13541=)
c.40620G>C (p.Val13540=)
c.40053G>C (p.Val13351=)
c.37395G>C (p.Val12465=)
c.37314G>C (p.Val12438=)
c.19077G>C (p.Val6359=)
c.8931G>C (p.Val2977=)
2g.178620339C>TCA430275276TTNc.38478G>A (p.Val12826=)
c.19563G>A (p.Val6521=)
c.19362G>A (p.Val6454=)
c.18987G>A (p.Val6329=)
c.46182G>A (p.Val15394=)
c.41259G>A (p.Val13753=)
c.45279G>A (p.Val15093=)
c.19173G>A (p.Val6391=)
c.19032G>A (p.Val6344=)
c.45075G>A (p.Val15025=)
c.40473G>A (p.Val13491=)
c.40470G>A (p.Val13490=)
c.37512G>A (p.Val12504=)
c.19128G>A (p.Val6376=)
c.40623G>A (p.Val13541=)
c.40620G>A (p.Val13540=)
c.40053G>A (p.Val13351=)
c.37395G>A (p.Val12465=)
c.37314G>A (p.Val12438=)
c.19077G>A (p.Val6359=)
c.8931G>A (p.Val2977=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178620340A>CCA349628924TTNc.38477T>G (p.Val12826Gly)
c.19562T>G (p.Val6521Gly)
c.19361T>G (p.Val6454Gly)
c.18986T>G (p.Val6329Gly)
c.46181T>G (p.Val15394Gly)
c.41258T>G (p.Val13753Gly)
c.45278T>G (p.Val15093Gly)
c.19172T>G (p.Val6391Gly)
c.19031T>G (p.Val6344Gly)
c.45074T>G (p.Val15025Gly)
c.40472T>G (p.Val13491Gly)
c.40469T>G (p.Val13490Gly)
c.37511T>G (p.Val12504Gly)
c.19127T>G (p.Val6376Gly)
c.40622T>G (p.Val13541Gly)
c.40619T>G (p.Val13540Gly)
c.40052T>G (p.Val13351Gly)
c.37394T>G (p.Val12465Gly)
c.37313T>G (p.Val12438Gly)
c.19076T>G (p.Val6359Gly)
c.8930T>G (p.Val2977Gly)
2g.178620340A>GCA349628927TTNc.38477T>C (p.Val12826Ala)
c.19562T>C (p.Val6521Ala)
c.19361T>C (p.Val6454Ala)
c.18986T>C (p.Val6329Ala)
c.46181T>C (p.Val15394Ala)
c.41258T>C (p.Val13753Ala)
c.45278T>C (p.Val15093Ala)
c.19172T>C (p.Val6391Ala)
c.19031T>C (p.Val6344Ala)
c.45074T>C (p.Val15025Ala)
c.40472T>C (p.Val13491Ala)
c.40469T>C (p.Val13490Ala)
c.37511T>C (p.Val12504Ala)
c.19127T>C (p.Val6376Ala)
c.40622T>C (p.Val13541Ala)
c.40619T>C (p.Val13540Ala)
c.40052T>C (p.Val13351Ala)
c.37394T>C (p.Val12465Ala)
c.37313T>C (p.Val12438Ala)
c.19076T>C (p.Val6359Ala)
c.8930T>C (p.Val2977Ala)
2g.178620340A>TCA349628929TTNc.38477T>A (p.Val12826Glu)
c.19562T>A (p.Val6521Glu)
c.19361T>A (p.Val6454Glu)
c.18986T>A (p.Val6329Glu)
c.46181T>A (p.Val15394Glu)
c.41258T>A (p.Val13753Glu)
c.45278T>A (p.Val15093Glu)
c.19172T>A (p.Val6391Glu)
c.19031T>A (p.Val6344Glu)
c.45074T>A (p.Val15025Glu)
c.40472T>A (p.Val13491Glu)
c.40469T>A (p.Val13490Glu)
c.37511T>A (p.Val12504Glu)
c.19127T>A (p.Val6376Glu)
c.40622T>A (p.Val13541Glu)
c.40619T>A (p.Val13540Glu)
c.40052T>A (p.Val13351Glu)
c.37394T>A (p.Val12465Glu)
c.37313T>A (p.Val12438Glu)
c.19076T>A (p.Val6359Glu)
c.8930T>A (p.Val2977Glu)
2g.178620341C>ACA349628932TTNc.38476G>T (p.Val12826Leu)
c.19561G>T (p.Val6521Leu)
c.19360G>T (p.Val6454Leu)
c.18985G>T (p.Val6329Leu)
c.46180G>T (p.Val15394Leu)
c.41257G>T (p.Val13753Leu)
c.45277G>T (p.Val15093Leu)
c.19171G>T (p.Val6391Leu)
c.19030G>T (p.Val6344Leu)
c.45073G>T (p.Val15025Leu)
c.40471G>T (p.Val13491Leu)
c.40468G>T (p.Val13490Leu)
c.37510G>T (p.Val12504Leu)
c.19126G>T (p.Val6376Leu)
c.40621G>T (p.Val13541Leu)
c.40618G>T (p.Val13540Leu)
c.40051G>T (p.Val13351Leu)
c.37393G>T (p.Val12465Leu)
c.37312G>T (p.Val12438Leu)
c.19075G>T (p.Val6359Leu)
c.8929G>T (p.Val2977Leu)
2g.178620341C>GCA349628935TTNc.38476G>C (p.Val12826Leu)
c.19561G>C (p.Val6521Leu)
c.19360G>C (p.Val6454Leu)
c.18985G>C (p.Val6329Leu)
c.46180G>C (p.Val15394Leu)
c.41257G>C (p.Val13753Leu)
c.45277G>C (p.Val15093Leu)
c.19171G>C (p.Val6391Leu)
c.19030G>C (p.Val6344Leu)
c.45073G>C (p.Val15025Leu)
c.40471G>C (p.Val13491Leu)
c.40468G>C (p.Val13490Leu)
c.37510G>C (p.Val12504Leu)
c.19126G>C (p.Val6376Leu)
c.40621G>C (p.Val13541Leu)
c.40618G>C (p.Val13540Leu)
c.40051G>C (p.Val13351Leu)
c.37393G>C (p.Val12465Leu)
c.37312G>C (p.Val12438Leu)
c.19075G>C (p.Val6359Leu)
c.8929G>C (p.Val2977Leu)
2g.178620341C>TCA349628936TTNc.38476G>A (p.Val12826Met)
c.19561G>A (p.Val6521Met)
c.19360G>A (p.Val6454Met)
c.18985G>A (p.Val6329Met)
c.46180G>A (p.Val15394Met)
c.41257G>A (p.Val13753Met)
c.45277G>A (p.Val15093Met)
c.19171G>A (p.Val6391Met)
c.19030G>A (p.Val6344Met)
c.45073G>A (p.Val15025Met)
c.40471G>A (p.Val13491Met)
c.40468G>A (p.Val13490Met)
c.37510G>A (p.Val12504Met)
c.19126G>A (p.Val6376Met)
c.40621G>A (p.Val13541Met)
c.40618G>A (p.Val13540Met)
c.40051G>A (p.Val13351Met)
c.37393G>A (p.Val12465Met)
c.37312G>A (p.Val12438Met)
c.19075G>A (p.Val6359Met)
c.8929G>A (p.Val2977Met)
2g.178620342A=CA1310551748TTNc.38475T= (p.Phe12825=)
c.19560T= (p.Phe6520=)
c.19359T= (p.Phe6453=)
c.18984T= (p.Phe6328=)
c.46179T= (p.Phe15393=)
c.41256T= (p.Phe13752=)
c.45276T= (p.Phe15092=)
c.19170T= (p.Phe6390=)
c.19029T= (p.Phe6343=)
c.45072T= (p.Phe15024=)
c.40470T= (p.Phe13490=)
c.40467T= (p.Phe13489=)
c.37509T= (p.Phe12503=)
c.19125T= (p.Phe6375=)
c.40620T= (p.Phe13540=)
c.40617T= (p.Phe13539=)
c.40050T= (p.Phe13350=)
c.37392T= (p.Phe12464=)
c.37311T= (p.Phe12437=)
c.19074T= (p.Phe6358=)
c.8928T= (p.Phe2976=)
2g.178620342A>CCA349628940TTNc.38475T>G (p.Phe12825Leu)
c.19560T>G (p.Phe6520Leu)
c.19359T>G (p.Phe6453Leu)
c.18984T>G (p.Phe6328Leu)
c.46179T>G (p.Phe15393Leu)
c.41256T>G (p.Phe13752Leu)
c.45276T>G (p.Phe15092Leu)
c.19170T>G (p.Phe6390Leu)
c.19029T>G (p.Phe6343Leu)
c.45072T>G (p.Phe15024Leu)
c.40470T>G (p.Phe13490Leu)
c.40467T>G (p.Phe13489Leu)
c.37509T>G (p.Phe12503Leu)
c.19125T>G (p.Phe6375Leu)
c.40620T>G (p.Phe13540Leu)
c.40617T>G (p.Phe13539Leu)
c.40050T>G (p.Phe13350Leu)
c.37392T>G (p.Phe12464Leu)
c.37311T>G (p.Phe12437Leu)
c.19074T>G (p.Phe6358Leu)
c.8928T>G (p.Phe2976Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178620342A>GCA430275281TTNc.38475T>C (p.Phe12825=)
c.19560T>C (p.Phe6520=)
c.19359T>C (p.Phe6453=)
c.18984T>C (p.Phe6328=)
c.46179T>C (p.Phe15393=)
c.41256T>C (p.Phe13752=)
c.45276T>C (p.Phe15092=)
c.19170T>C (p.Phe6390=)
c.19029T>C (p.Phe6343=)
c.45072T>C (p.Phe15024=)
c.40470T>C (p.Phe13490=)
c.40467T>C (p.Phe13489=)
c.37509T>C (p.Phe12503=)
c.19125T>C (p.Phe6375=)
c.40620T>C (p.Phe13540=)
c.40617T>C (p.Phe13539=)
c.40050T>C (p.Phe13350=)
c.37392T>C (p.Phe12464=)
c.37311T>C (p.Phe12437=)
c.19074T>C (p.Phe6358=)
c.8928T>C (p.Phe2976=)
2g.178620342A>TCA349628938TTNc.38475T>A (p.Phe12825Leu)
c.19560T>A (p.Phe6520Leu)
c.19359T>A (p.Phe6453Leu)
c.18984T>A (p.Phe6328Leu)
c.46179T>A (p.Phe15393Leu)
c.41256T>A (p.Phe13752Leu)
c.45276T>A (p.Phe15092Leu)
c.19170T>A (p.Phe6390Leu)
c.19029T>A (p.Phe6343Leu)
c.45072T>A (p.Phe15024Leu)
c.40470T>A (p.Phe13490Leu)
c.40467T>A (p.Phe13489Leu)
c.37509T>A (p.Phe12503Leu)
c.19125T>A (p.Phe6375Leu)
c.40620T>A (p.Phe13540Leu)
c.40617T>A (p.Phe13539Leu)
c.40050T>A (p.Phe13350Leu)
c.37392T>A (p.Phe12464Leu)
c.37311T>A (p.Phe12437Leu)
c.19074T>A (p.Phe6358Leu)
c.8928T>A (p.Phe2976Leu)
2g.178620343A=CA1310551749TTNc.38474T= (p.Phe12825=)
c.19559T= (p.Phe6520=)
c.19358T= (p.Phe6453=)
c.18983T= (p.Phe6328=)
c.46178T= (p.Phe15393=)
c.41255T= (p.Phe13752=)
c.45275T= (p.Phe15092=)
c.19169T= (p.Phe6390=)
c.19028T= (p.Phe6343=)
c.45071T= (p.Phe15024=)
c.40469T= (p.Phe13490=)
c.40466T= (p.Phe13489=)
c.37508T= (p.Phe12503=)
c.19124T= (p.Phe6375=)
c.40619T= (p.Phe13540=)
c.40616T= (p.Phe13539=)
c.40049T= (p.Phe13350=)
c.37391T= (p.Phe12464=)
c.37310T= (p.Phe12437=)
c.19073T= (p.Phe6358=)
c.8927T= (p.Phe2976=)
2g.178620343A>CCA349628944TTNc.38474T>G (p.Phe12825Cys)
c.19559T>G (p.Phe6520Cys)
c.19358T>G (p.Phe6453Cys)
c.18983T>G (p.Phe6328Cys)
c.46178T>G (p.Phe15393Cys)
c.41255T>G (p.Phe13752Cys)
c.45275T>G (p.Phe15092Cys)
c.19169T>G (p.Phe6390Cys)
c.19028T>G (p.Phe6343Cys)
c.45071T>G (p.Phe15024Cys)
c.40469T>G (p.Phe13490Cys)
c.40466T>G (p.Phe13489Cys)
c.37508T>G (p.Phe12503Cys)
c.19124T>G (p.Phe6375Cys)
c.40619T>G (p.Phe13540Cys)
c.40616T>G (p.Phe13539Cys)
c.40049T>G (p.Phe13350Cys)
c.37391T>G (p.Phe12464Cys)
c.37310T>G (p.Phe12437Cys)
c.19073T>G (p.Phe6358Cys)
c.8927T>G (p.Phe2976Cys)
2g.178620343A>GCA349628947TTNc.38474T>C (p.Phe12825Ser)
c.19559T>C (p.Phe6520Ser)
c.19358T>C (p.Phe6453Ser)
c.18983T>C (p.Phe6328Ser)
c.46178T>C (p.Phe15393Ser)
c.41255T>C (p.Phe13752Ser)
c.45275T>C (p.Phe15092Ser)
c.19169T>C (p.Phe6390Ser)
c.19028T>C (p.Phe6343Ser)
c.45071T>C (p.Phe15024Ser)
c.40469T>C (p.Phe13490Ser)
c.40466T>C (p.Phe13489Ser)
c.37508T>C (p.Phe12503Ser)
c.19124T>C (p.Phe6375Ser)
c.40619T>C (p.Phe13540Ser)
c.40616T>C (p.Phe13539Ser)
c.40049T>C (p.Phe13350Ser)
c.37391T>C (p.Phe12464Ser)
c.37310T>C (p.Phe12437Ser)
c.19073T>C (p.Phe6358Ser)
c.8927T>C (p.Phe2976Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.178620343A>TCA349628946TTNc.38474T>A (p.Phe12825Tyr)
c.19559T>A (p.Phe6520Tyr)
c.19358T>A (p.Phe6453Tyr)
c.18983T>A (p.Phe6328Tyr)
c.46178T>A (p.Phe15393Tyr)
c.41255T>A (p.Phe13752Tyr)
c.45275T>A (p.Phe15092Tyr)
c.19169T>A (p.Phe6390Tyr)
c.19028T>A (p.Phe6343Tyr)
c.45071T>A (p.Phe15024Tyr)
c.40469T>A (p.Phe13490Tyr)
c.40466T>A (p.Phe13489Tyr)
c.37508T>A (p.Phe12503Tyr)
c.19124T>A (p.Phe6375Tyr)
c.40619T>A (p.Phe13540Tyr)
c.40616T>A (p.Phe13539Tyr)
c.40049T>A (p.Phe13350Tyr)
c.37391T>A (p.Phe12464Tyr)
c.37310T>A (p.Phe12437Tyr)
c.19073T>A (p.Phe6358Tyr)
c.8927T>A (p.Phe2976Tyr)
2g.178620344A>CCA349628952TTNc.38473T>G (p.Phe12825Val)
c.19558T>G (p.Phe6520Val)
c.19357T>G (p.Phe6453Val)
c.18982T>G (p.Phe6328Val)
c.46177T>G (p.Phe15393Val)
c.41254T>G (p.Phe13752Val)
c.45274T>G (p.Phe15092Val)
c.19168T>G (p.Phe6390Val)
c.19027T>G (p.Phe6343Val)
c.45070T>G (p.Phe15024Val)
c.40468T>G (p.Phe13490Val)
c.40465T>G (p.Phe13489Val)
c.37507T>G (p.Phe12503Val)
c.19123T>G (p.Phe6375Val)
c.40618T>G (p.Phe13540Val)
c.40615T>G (p.Phe13539Val)
c.40048T>G (p.Phe13350Val)
c.37390T>G (p.Phe12464Val)
c.37309T>G (p.Phe12437Val)
c.19072T>G (p.Phe6358Val)
c.8926T>G (p.Phe2976Val)
2g.178620344A>GCA349628955TTNc.38473T>C (p.Phe12825Leu)
c.19558T>C (p.Phe6520Leu)
c.19357T>C (p.Phe6453Leu)
c.18982T>C (p.Phe6328Leu)
c.46177T>C (p.Phe15393Leu)
c.41254T>C (p.Phe13752Leu)
c.45274T>C (p.Phe15092Leu)
c.19168T>C (p.Phe6390Leu)
c.19027T>C (p.Phe6343Leu)
c.45070T>C (p.Phe15024Leu)
c.40468T>C (p.Phe13490Leu)
c.40465T>C (p.Phe13489Leu)
c.37507T>C (p.Phe12503Leu)
c.19123T>C (p.Phe6375Leu)
c.40618T>C (p.Phe13540Leu)
c.40615T>C (p.Phe13539Leu)
c.40048T>C (p.Phe13350Leu)
c.37390T>C (p.Phe12464Leu)
c.37309T>C (p.Phe12437Leu)
c.19072T>C (p.Phe6358Leu)
c.8926T>C (p.Phe2976Leu)

Number of alleles fetched