Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.90823473_90823476delinsAGTCCA1562918258ADGRV1c.16245_16248delinsAGTC (p.Thr5415=)
c.5199_5202delinsAGTC (p.Thr1733=)
n.3512_3515delinsAGTC
c.265+147264_265+147267delinsAGTC (n.265+147264_265+147267delinsAGTC)
n.128+1291_128+1294delinsAGTC
c.2655_2658delinsAGTC (p.Thr885=)
c.3228_3231delinsAGTC (p.Thr1076=)
n.16258_16261delinsAGTC
c.16242_16245delinsAGTC (p.Thr5414=)
c.16164_16167delinsAGTC (p.Thr5388=)
c.13548_13551delinsAGTC (p.Thr4516=)
c.16266_16269delinsAGTC (p.Thr5422=)
c.16263_16266delinsAGTC (p.Thr5421=)
c.16185_16188delinsAGTC (p.Thr5395=)
c.16170_16173delinsAGTC (p.Thr5390=)
c.16086_16089delinsAGTC (p.Thr5362=)
c.9384_9387delinsAGTC (p.Thr3128=)
c.9363_9366delinsAGTC (p.Thr3121=)
n.16261_16264delinsAGTC
5g.90823479_90823481delCA561261487ADGRV1c.16251_16253del (p.Val5418del)
c.5205_5207del (p.Val1736del)
n.3518_3520del
c.265+147270_265+147272del (n.265+147270_265+147272del)
n.128+1297_128+1299del
c.2661_2663del (p.Val888del)
c.3234_3236del (p.Val1079del)
n.16264_16266del
c.16248_16250del (p.Val5417del)
c.16170_16172del (p.Val5391del)
c.13554_13556del (p.Val4519del)
c.16272_16274del (p.Val5425del)
c.16269_16271del (p.Val5424del)
c.16191_16193del (p.Val5398del)
c.16176_16178del (p.Val5393del)
c.16092_16094del (p.Val5365del)
c.9390_9392del (p.Val3131del)
c.9369_9371del (p.Val3124del)
n.16267_16269del
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.90823475T>ACA360425541ADGRV1c.16247T>A (p.Val5416Asp)
c.5201T>A (p.Val1734Asp)
n.3514T>A
c.265+147266T>A (n.265+147266T>A)
n.128+1293T>A
c.2657T>A (p.Val886Asp)
c.3230T>A (p.Val1077Asp)
n.16260T>A
c.16244T>A (p.Val5415Asp)
c.16166T>A (p.Val5389Asp)
c.13550T>A (p.Val4517Asp)
c.16268T>A (p.Val5423Asp)
c.16265T>A (p.Val5422Asp)
c.16187T>A (p.Val5396Asp)
c.16172T>A (p.Val5391Asp)
c.16088T>A (p.Val5363Asp)
c.9386T>A (p.Val3129Asp)
c.9365T>A (p.Val3122Asp)
n.16263T>A
5g.90823475T>CCA360425543ADGRV1c.16247T>C (p.Val5416Ala)
c.5201T>C (p.Val1734Ala)
n.3514T>C
c.265+147266T>C (n.265+147266T>C)
n.128+1293T>C
c.2657T>C (p.Val886Ala)
c.3230T>C (p.Val1077Ala)
n.16260T>C
c.16244T>C (p.Val5415Ala)
c.16166T>C (p.Val5389Ala)
c.13550T>C (p.Val4517Ala)
c.16268T>C (p.Val5423Ala)
c.16265T>C (p.Val5422Ala)
c.16187T>C (p.Val5396Ala)
c.16172T>C (p.Val5391Ala)
c.16088T>C (p.Val5363Ala)
c.9386T>C (p.Val3129Ala)
c.9365T>C (p.Val3122Ala)
n.16263T>C
5g.90823475T>GCA360425542ADGRV1c.16247T>G (p.Val5416Gly)
c.5201T>G (p.Val1734Gly)
n.3514T>G
c.265+147266T>G (n.265+147266T>G)
n.128+1293T>G
c.2657T>G (p.Val886Gly)
c.3230T>G (p.Val1077Gly)
n.16260T>G
c.16244T>G (p.Val5415Gly)
c.16166T>G (p.Val5389Gly)
c.13550T>G (p.Val4517Gly)
c.16268T>G (p.Val5423Gly)
c.16265T>G (p.Val5422Gly)
c.16187T>G (p.Val5396Gly)
c.16172T>G (p.Val5391Gly)
c.16088T>G (p.Val5363Gly)
c.9386T>G (p.Val3129Gly)
c.9365T>G (p.Val3122Gly)
n.16263T>G
5g.90823476C>ACA445436526ADGRV1c.16248C>A (p.Val5416=)
c.5202C>A (p.Val1734=)
n.3515C>A
c.265+147267C>A (n.265+147267C>A)
n.128+1294C>A
c.2658C>A (p.Val886=)
c.3231C>A (p.Val1077=)
n.16261C>A
c.16245C>A (p.Val5415=)
c.16167C>A (p.Val5389=)
c.13551C>A (p.Val4517=)
c.16269C>A (p.Val5423=)
c.16266C>A (p.Val5422=)
c.16188C>A (p.Val5396=)
c.16173C>A (p.Val5391=)
c.16089C>A (p.Val5363=)
c.9387C>A (p.Val3129=)
c.9366C>A (p.Val3122=)
n.16264C>A
5g.90823476C=CA1562918260ADGRV1c.16248C= (p.Val5416=)
c.5202C= (p.Val1734=)
n.3515C=
c.265+147267C= (n.265+147267C=)
n.128+1294C=
c.2658C= (p.Val886=)
c.3231C= (p.Val1077=)
n.16261C=
c.16245C= (p.Val5415=)
c.16167C= (p.Val5389=)
c.13551C= (p.Val4517=)
c.16269C= (p.Val5423=)
c.16266C= (p.Val5422=)
c.16188C= (p.Val5396=)
c.16173C= (p.Val5391=)
c.16089C= (p.Val5363=)
c.9387C= (p.Val3129=)
c.9366C= (p.Val3122=)
n.16264C=
5g.90823476C>GCA3342093ADGRV1c.16248C>G (p.Val5416=)
c.5202C>G (p.Val1734=)
n.3515C>G
c.265+147267C>G (n.265+147267C>G)
n.128+1294C>G
c.2658C>G (p.Val886=)
c.3231C>G (p.Val1077=)
n.16261C>G
c.16245C>G (p.Val5415=)
c.16167C>G (p.Val5389=)
c.13551C>G (p.Val4517=)
c.16269C>G (p.Val5423=)
c.16266C>G (p.Val5422=)
c.16188C>G (p.Val5396=)
c.16173C>G (p.Val5391=)
c.16089C>G (p.Val5363=)
c.9387C>G (p.Val3129=)
c.9366C>G (p.Val3122=)
n.16264C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90823476C>TCA138055ADGRV1c.16248C>T (p.Val5416=)
c.5202C>T (p.Val1734=)
n.3515C>T
c.265+147267C>T (n.265+147267C>T)
n.128+1294C>T
c.2658C>T (p.Val886=)
c.3231C>T (p.Val1077=)
n.16261C>T
c.16245C>T (p.Val5415=)
c.16167C>T (p.Val5389=)
c.13551C>T (p.Val4517=)
c.16269C>T (p.Val5423=)
c.16266C>T (p.Val5422=)
c.16188C>T (p.Val5396=)
c.16173C>T (p.Val5391=)
c.16089C>T (p.Val5363=)
c.9387C>T (p.Val3129=)
c.9366C>T (p.Val3122=)
n.16264C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90823477G>ACA3342095ADGRV1c.16249G>A (p.Val5417Ile)
c.5203G>A (p.Val1735Ile)
n.3516G>A
c.265+147268G>A (n.265+147268G>A)
n.128+1295G>A
c.2659G>A (p.Val887Ile)
c.3232G>A (p.Val1078Ile)
n.16262G>A
c.16246G>A (p.Val5416Ile)
c.16168G>A (p.Val5390Ile)
c.13552G>A (p.Val4518Ile)
c.16270G>A (p.Val5424Ile)
c.16267G>A (p.Val5423Ile)
c.16189G>A (p.Val5397Ile)
c.16174G>A (p.Val5392Ile)
c.16090G>A (p.Val5364Ile)
c.9388G>A (p.Val3130Ile)
c.9367G>A (p.Val3123Ile)
n.16265G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90823477G>CCA3342096ADGRV1c.16249G>C (p.Val5417Leu)
c.5203G>C (p.Val1735Leu)
n.3516G>C
c.265+147268G>C (n.265+147268G>C)
n.128+1295G>C
c.2659G>C (p.Val887Leu)
c.3232G>C (p.Val1078Leu)
n.16262G>C
c.16246G>C (p.Val5416Leu)
c.16168G>C (p.Val5390Leu)
c.13552G>C (p.Val4518Leu)
c.16270G>C (p.Val5424Leu)
c.16267G>C (p.Val5423Leu)
c.16189G>C (p.Val5397Leu)
c.16174G>C (p.Val5392Leu)
c.16090G>C (p.Val5364Leu)
c.9388G>C (p.Val3130Leu)
c.9367G>C (p.Val3123Leu)
n.16265G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90823477G=CA1562918261ADGRV1c.16249G= (p.Val5417=)
c.5203G= (p.Val1735=)
n.3516G=
c.265+147268G= (n.265+147268G=)
n.128+1295G=
c.2659G= (p.Val887=)
c.3232G= (p.Val1078=)
n.16262G=
c.16246G= (p.Val5416=)
c.16168G= (p.Val5390=)
c.13552G= (p.Val4518=)
c.16270G= (p.Val5424=)
c.16267G= (p.Val5423=)
c.16189G= (p.Val5397=)
c.16174G= (p.Val5392=)
c.16090G= (p.Val5364=)
c.9388G= (p.Val3130=)
c.9367G= (p.Val3123=)
n.16265G=
5g.90823477G>TCA3342094ADGRV1c.16249G>T (p.Val5417Phe)
c.5203G>T (p.Val1735Phe)
n.3516G>T
c.265+147268G>T (n.265+147268G>T)
n.128+1295G>T
c.2659G>T (p.Val887Phe)
c.3232G>T (p.Val1078Phe)
n.16262G>T
c.16246G>T (p.Val5416Phe)
c.16168G>T (p.Val5390Phe)
c.13552G>T (p.Val4518Phe)
c.16270G>T (p.Val5424Phe)
c.16267G>T (p.Val5423Phe)
c.16189G>T (p.Val5397Phe)
c.16174G>T (p.Val5392Phe)
c.16090G>T (p.Val5364Phe)
c.9388G>T (p.Val3130Phe)
c.9367G>T (p.Val3123Phe)
n.16265G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.90823478T>ACA360425544ADGRV1c.16250T>A (p.Val5417Asp)
c.5204T>A (p.Val1735Asp)
n.3517T>A
c.265+147269T>A (n.265+147269T>A)
n.128+1296T>A
c.2660T>A (p.Val887Asp)
c.3233T>A (p.Val1078Asp)
n.16263T>A
c.16247T>A (p.Val5416Asp)
c.16169T>A (p.Val5390Asp)
c.13553T>A (p.Val4518Asp)
c.16271T>A (p.Val5424Asp)
c.16268T>A (p.Val5423Asp)
c.16190T>A (p.Val5397Asp)
c.16175T>A (p.Val5392Asp)
c.16091T>A (p.Val5364Asp)
c.9389T>A (p.Val3130Asp)
c.9368T>A (p.Val3123Asp)
n.16266T>A
5g.90823478T>CCA360425545ADGRV1c.16250T>C (p.Val5417Ala)
c.5204T>C (p.Val1735Ala)
n.3517T>C
c.265+147269T>C (n.265+147269T>C)
n.128+1296T>C
c.2660T>C (p.Val887Ala)
c.3233T>C (p.Val1078Ala)
n.16263T>C
c.16247T>C (p.Val5416Ala)
c.16169T>C (p.Val5390Ala)
c.13553T>C (p.Val4518Ala)
c.16271T>C (p.Val5424Ala)
c.16268T>C (p.Val5423Ala)
c.16190T>C (p.Val5397Ala)
c.16175T>C (p.Val5392Ala)
c.16091T>C (p.Val5364Ala)
c.9389T>C (p.Val3130Ala)
c.9368T>C (p.Val3123Ala)
n.16266T>C
5g.90823478T>GCA360425546ADGRV1c.16250T>G (p.Val5417Gly)
c.5204T>G (p.Val1735Gly)
n.3517T>G
c.265+147269T>G (n.265+147269T>G)
n.128+1296T>G
c.2660T>G (p.Val887Gly)
c.3233T>G (p.Val1078Gly)
n.16263T>G
c.16247T>G (p.Val5416Gly)
c.16169T>G (p.Val5390Gly)
c.13553T>G (p.Val4518Gly)
c.16271T>G (p.Val5424Gly)
c.16268T>G (p.Val5423Gly)
c.16190T>G (p.Val5397Gly)
c.16175T>G (p.Val5392Gly)
c.16091T>G (p.Val5364Gly)
c.9389T>G (p.Val3130Gly)
c.9368T>G (p.Val3123Gly)
n.16266T>G
5g.90823479C>ACA3342097ADGRV1c.16251C>A (p.Val5417=)
c.5205C>A (p.Val1735=)
n.3518C>A
c.265+147270C>A (n.265+147270C>A)
n.128+1297C>A
c.2661C>A (p.Val887=)
c.3234C>A (p.Val1078=)
n.16264C>A
c.16248C>A (p.Val5416=)
c.16170C>A (p.Val5390=)
c.13554C>A (p.Val4518=)
c.16272C>A (p.Val5424=)
c.16269C>A (p.Val5423=)
c.16191C>A (p.Val5397=)
c.16176C>A (p.Val5392=)
c.16092C>A (p.Val5364=)
c.9390C>A (p.Val3130=)
c.9369C>A (p.Val3123=)
n.16267C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90823479C=CA1562918262ADGRV1c.16251C= (p.Val5417=)
c.5205C= (p.Val1735=)
n.3518C=
c.265+147270C= (n.265+147270C=)
n.128+1297C=
c.2661C= (p.Val887=)
c.3234C= (p.Val1078=)
n.16264C=
c.16248C= (p.Val5416=)
c.16170C= (p.Val5390=)
c.13554C= (p.Val4518=)
c.16272C= (p.Val5424=)
c.16269C= (p.Val5423=)
c.16191C= (p.Val5397=)
c.16176C= (p.Val5392=)
c.16092C= (p.Val5364=)
c.9390C= (p.Val3130=)
c.9369C= (p.Val3123=)
n.16267C=
5g.90823479C>GCA445436536ADGRV1c.16251C>G (p.Val5417=)
c.5205C>G (p.Val1735=)
n.3518C>G
c.265+147270C>G (n.265+147270C>G)
n.128+1297C>G
c.2661C>G (p.Val887=)
c.3234C>G (p.Val1078=)
n.16264C>G
c.16248C>G (p.Val5416=)
c.16170C>G (p.Val5390=)
c.13554C>G (p.Val4518=)
c.16272C>G (p.Val5424=)
c.16269C>G (p.Val5423=)
c.16191C>G (p.Val5397=)
c.16176C>G (p.Val5392=)
c.16092C>G (p.Val5364=)
c.9390C>G (p.Val3130=)
c.9369C>G (p.Val3123=)
n.16267C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.90823479C>TCA3342098ADGRV1c.16251C>T (p.Val5417=)
c.5205C>T (p.Val1735=)
n.3518C>T
c.265+147270C>T (n.265+147270C>T)
n.128+1297C>T
c.2661C>T (p.Val887=)
c.3234C>T (p.Val1078=)
n.16264C>T
c.16248C>T (p.Val5416=)
c.16170C>T (p.Val5390=)
c.13554C>T (p.Val4518=)
c.16272C>T (p.Val5424=)
c.16269C>T (p.Val5423=)
c.16191C>T (p.Val5397=)
c.16176C>T (p.Val5392=)
c.16092C>T (p.Val5364=)
c.9390C>T (p.Val3130=)
c.9369C>T (p.Val3123=)
n.16267C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90823480G>ACA3342099ADGRV1c.16252G>A (p.Val5418Met)
c.5206G>A (p.Val1736Met)
n.3519G>A
c.265+147271G>A (n.265+147271G>A)
n.128+1298G>A
c.2662G>A (p.Val888Met)
c.3235G>A (p.Val1079Met)
n.16265G>A
c.16249G>A (p.Val5417Met)
c.16171G>A (p.Val5391Met)
c.13555G>A (p.Val4519Met)
c.16273G>A (p.Val5425Met)
c.16270G>A (p.Val5424Met)
c.16192G>A (p.Val5398Met)
c.16177G>A (p.Val5393Met)
c.16093G>A (p.Val5365Met)
c.9391G>A (p.Val3131Met)
c.9370G>A (p.Val3124Met)
n.16268G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.90823480G>CCA360425548ADGRV1c.16252G>C (p.Val5418Leu)
c.5206G>C (p.Val1736Leu)
n.3519G>C
c.265+147271G>C (n.265+147271G>C)
n.128+1298G>C
c.2662G>C (p.Val888Leu)
c.3235G>C (p.Val1079Leu)
n.16265G>C
c.16249G>C (p.Val5417Leu)
c.16171G>C (p.Val5391Leu)
c.13555G>C (p.Val4519Leu)
c.16273G>C (p.Val5425Leu)
c.16270G>C (p.Val5424Leu)
c.16192G>C (p.Val5398Leu)
c.16177G>C (p.Val5393Leu)
c.16093G>C (p.Val5365Leu)
c.9391G>C (p.Val3131Leu)
c.9370G>C (p.Val3124Leu)
n.16268G>C
 gnomAD v4
5g.90823480G=CA1562918263ADGRV1c.16252G= (p.Val5418=)
c.5206G= (p.Val1736=)
n.3519G=
c.265+147271G= (n.265+147271G=)
n.128+1298G=
c.2662G= (p.Val888=)
c.3235G= (p.Val1079=)
n.16265G=
c.16249G= (p.Val5417=)
c.16171G= (p.Val5391=)
c.13555G= (p.Val4519=)
c.16273G= (p.Val5425=)
c.16270G= (p.Val5424=)
c.16192G= (p.Val5398=)
c.16177G= (p.Val5393=)
c.16093G= (p.Val5365=)
c.9391G= (p.Val3131=)
c.9370G= (p.Val3124=)
n.16268G=
5g.90823480G>TCA360425547ADGRV1c.16252G>T (p.Val5418Leu)
c.5206G>T (p.Val1736Leu)
n.3519G>T
c.265+147271G>T (n.265+147271G>T)
n.128+1298G>T
c.2662G>T (p.Val888Leu)
c.3235G>T (p.Val1079Leu)
n.16265G>T
c.16249G>T (p.Val5417Leu)
c.16171G>T (p.Val5391Leu)
c.13555G>T (p.Val4519Leu)
c.16273G>T (p.Val5425Leu)
c.16270G>T (p.Val5424Leu)
c.16192G>T (p.Val5398Leu)
c.16177G>T (p.Val5393Leu)
c.16093G>T (p.Val5365Leu)
c.9391G>T (p.Val3131Leu)
c.9370G>T (p.Val3124Leu)
n.16268G>T
 dbSNP gnomAD v2 gnomAD v4
5g.90823481T>ACA360425549ADGRV1c.16253T>A (p.Val5418Glu)
c.5207T>A (p.Val1736Glu)
n.3520T>A
c.265+147272T>A (n.265+147272T>A)
n.128+1299T>A
c.2663T>A (p.Val888Glu)
c.3236T>A (p.Val1079Glu)
n.16266T>A
c.16250T>A (p.Val5417Glu)
c.16172T>A (p.Val5391Glu)
c.13556T>A (p.Val4519Glu)
c.16274T>A (p.Val5425Glu)
c.16271T>A (p.Val5424Glu)
c.16193T>A (p.Val5398Glu)
c.16178T>A (p.Val5393Glu)
c.16094T>A (p.Val5365Glu)
c.9392T>A (p.Val3131Glu)
c.9371T>A (p.Val3124Glu)
n.16269T>A
 gnomAD v4
5g.90823481T>CCA360425550ADGRV1c.16253T>C (p.Val5418Ala)
c.5207T>C (p.Val1736Ala)
n.3520T>C
c.265+147272T>C (n.265+147272T>C)
n.128+1299T>C
c.2663T>C (p.Val888Ala)
c.3236T>C (p.Val1079Ala)
n.16266T>C
c.16250T>C (p.Val5417Ala)
c.16172T>C (p.Val5391Ala)
c.13556T>C (p.Val4519Ala)
c.16274T>C (p.Val5425Ala)
c.16271T>C (p.Val5424Ala)
c.16193T>C (p.Val5398Ala)
c.16178T>C (p.Val5393Ala)
c.16094T>C (p.Val5365Ala)
c.9392T>C (p.Val3131Ala)
c.9371T>C (p.Val3124Ala)
n.16269T>C
5g.90823481T>GCA360425551ADGRV1c.16253T>G (p.Val5418Gly)
c.5207T>G (p.Val1736Gly)
n.3520T>G
c.265+147272T>G (n.265+147272T>G)
n.128+1299T>G
c.2663T>G (p.Val888Gly)
c.3236T>G (p.Val1079Gly)
n.16266T>G
c.16250T>G (p.Val5417Gly)
c.16172T>G (p.Val5391Gly)
c.13556T>G (p.Val4519Gly)
c.16274T>G (p.Val5425Gly)
c.16271T>G (p.Val5424Gly)
c.16193T>G (p.Val5398Gly)
c.16178T>G (p.Val5393Gly)
c.16094T>G (p.Val5365Gly)
c.9392T>G (p.Val3131Gly)
c.9371T>G (p.Val3124Gly)
n.16269T>G
5g.90823482G>ACA445436543ADGRV1c.16254G>A (p.Val5418=)
c.5208G>A (p.Val1736=)
n.3521G>A
c.265+147273G>A (n.265+147273G>A)
n.128+1300G>A
c.2664G>A (p.Val888=)
c.3237G>A (p.Val1079=)
n.16267G>A
c.16251G>A (p.Val5417=)
c.16173G>A (p.Val5391=)
c.13557G>A (p.Val4519=)
c.16275G>A (p.Val5425=)
c.16272G>A (p.Val5424=)
c.16194G>A (p.Val5398=)
c.16179G>A (p.Val5393=)
c.16095G>A (p.Val5365=)
c.9393G>A (p.Val3131=)
c.9372G>A (p.Val3124=)
n.16270G>A
 gnomAD v4
5g.90823482G>CCA445436545ADGRV1c.16254G>C (p.Val5418=)
c.5208G>C (p.Val1736=)
n.3521G>C
c.265+147273G>C (n.265+147273G>C)
n.128+1300G>C
c.2664G>C (p.Val888=)
c.3237G>C (p.Val1079=)
n.16267G>C
c.16251G>C (p.Val5417=)
c.16173G>C (p.Val5391=)
c.13557G>C (p.Val4519=)
c.16275G>C (p.Val5425=)
c.16272G>C (p.Val5424=)
c.16194G>C (p.Val5398=)
c.16179G>C (p.Val5393=)
c.16095G>C (p.Val5365=)
c.9393G>C (p.Val3131=)
c.9372G>C (p.Val3124=)
n.16270G>C
5g.90823482G>TCA445436547ADGRV1c.16254G>T (p.Val5418=)
c.5208G>T (p.Val1736=)
n.3521G>T
c.265+147273G>T (n.265+147273G>T)
n.128+1300G>T
c.2664G>T (p.Val888=)
c.3237G>T (p.Val1079=)
n.16267G>T
c.16251G>T (p.Val5417=)
c.16173G>T (p.Val5391=)
c.13557G>T (p.Val4519=)
c.16275G>T (p.Val5425=)
c.16272G>T (p.Val5424=)
c.16194G>T (p.Val5398=)
c.16179G>T (p.Val5393=)
c.16095G>T (p.Val5365=)
c.9393G>T (p.Val3131=)
c.9372G>T (p.Val3124=)
n.16270G>T
5g.90823483C>ACA360425552ADGRV1c.16255C>A (p.Leu5419Ile)
c.5209C>A (p.Leu1737Ile)
n.3522C>A
c.265+147274C>A (n.265+147274C>A)
n.128+1301C>A
c.2665C>A (p.Leu889Ile)
c.3238C>A (p.Leu1080Ile)
n.16268C>A
c.16252C>A (p.Leu5418Ile)
c.16174C>A (p.Leu5392Ile)
c.13558C>A (p.Leu4520Ile)
c.16276C>A (p.Leu5426Ile)
c.16273C>A (p.Leu5425Ile)
c.16195C>A (p.Leu5399Ile)
c.16180C>A (p.Leu5394Ile)
c.16096C>A (p.Leu5366Ile)
c.9394C>A (p.Leu3132Ile)
c.9373C>A (p.Leu3125Ile)
n.16271C>A
5g.90823483C>GCA360425553ADGRV1c.16255C>G (p.Leu5419Val)
c.5209C>G (p.Leu1737Val)
n.3522C>G
c.265+147274C>G (n.265+147274C>G)
n.128+1301C>G
c.2665C>G (p.Leu889Val)
c.3238C>G (p.Leu1080Val)
n.16268C>G
c.16252C>G (p.Leu5418Val)
c.16174C>G (p.Leu5392Val)
c.13558C>G (p.Leu4520Val)
c.16276C>G (p.Leu5426Val)
c.16273C>G (p.Leu5425Val)
c.16195C>G (p.Leu5399Val)
c.16180C>G (p.Leu5394Val)
c.16096C>G (p.Leu5366Val)
c.9394C>G (p.Leu3132Val)
c.9373C>G (p.Leu3125Val)
n.16271C>G
5g.90823483C>TCA360425554ADGRV1c.16255C>T (p.Leu5419Phe)
c.5209C>T (p.Leu1737Phe)
n.3522C>T
c.265+147274C>T (n.265+147274C>T)
n.128+1301C>T
c.2665C>T (p.Leu889Phe)
c.3238C>T (p.Leu1080Phe)
n.16268C>T
c.16252C>T (p.Leu5418Phe)
c.16174C>T (p.Leu5392Phe)
c.13558C>T (p.Leu4520Phe)
c.16276C>T (p.Leu5426Phe)
c.16273C>T (p.Leu5425Phe)
c.16195C>T (p.Leu5399Phe)
c.16180C>T (p.Leu5394Phe)
c.16096C>T (p.Leu5366Phe)
c.9394C>T (p.Leu3132Phe)
c.9373C>T (p.Leu3125Phe)
n.16271C>T
5g.90823484T>ACA360425555ADGRV1c.16256T>A (p.Leu5419His)
c.5210T>A (p.Leu1737His)
n.3523T>A
c.265+147275T>A (n.265+147275T>A)
n.128+1302T>A
c.2666T>A (p.Leu889His)
c.3239T>A (p.Leu1080His)
n.16269T>A
c.16253T>A (p.Leu5418His)
c.16175T>A (p.Leu5392His)
c.13559T>A (p.Leu4520His)
c.16277T>A (p.Leu5426His)
c.16274T>A (p.Leu5425His)
c.16196T>A (p.Leu5399His)
c.16181T>A (p.Leu5394His)
c.16097T>A (p.Leu5366His)
c.9395T>A (p.Leu3132His)
c.9374T>A (p.Leu3125His)
n.16272T>A
5g.90823484T>CCA360425556ADGRV1c.16256T>C (p.Leu5419Pro)
c.5210T>C (p.Leu1737Pro)
n.3523T>C
c.265+147275T>C (n.265+147275T>C)
n.128+1302T>C
c.2666T>C (p.Leu889Pro)
c.3239T>C (p.Leu1080Pro)
n.16269T>C
c.16253T>C (p.Leu5418Pro)
c.16175T>C (p.Leu5392Pro)
c.13559T>C (p.Leu4520Pro)
c.16277T>C (p.Leu5426Pro)
c.16274T>C (p.Leu5425Pro)
c.16196T>C (p.Leu5399Pro)
c.16181T>C (p.Leu5394Pro)
c.16097T>C (p.Leu5366Pro)
c.9395T>C (p.Leu3132Pro)
c.9374T>C (p.Leu3125Pro)
n.16272T>C
 COSMIC
5g.90823484T>GCA360425557ADGRV1c.16256T>G (p.Leu5419Arg)
c.5210T>G (p.Leu1737Arg)
n.3523T>G
c.265+147275T>G (n.265+147275T>G)
n.128+1302T>G
c.2666T>G (p.Leu889Arg)
c.3239T>G (p.Leu1080Arg)
n.16269T>G
c.16253T>G (p.Leu5418Arg)
c.16175T>G (p.Leu5392Arg)
c.13559T>G (p.Leu4520Arg)
c.16277T>G (p.Leu5426Arg)
c.16274T>G (p.Leu5425Arg)
c.16196T>G (p.Leu5399Arg)
c.16181T>G (p.Leu5394Arg)
c.16097T>G (p.Leu5366Arg)
c.9395T>G (p.Leu3132Arg)
c.9374T>G (p.Leu3125Arg)
n.16272T>G
5g.90823485C>ACA445436553ADGRV1c.16257C>A (p.Leu5419=)
c.5211C>A (p.Leu1737=)
n.3524C>A
c.265+147276C>A (n.265+147276C>A)
n.128+1303C>A
c.2667C>A (p.Leu889=)
c.3240C>A (p.Leu1080=)
n.16270C>A
c.16254C>A (p.Leu5418=)
c.16176C>A (p.Leu5392=)
c.13560C>A (p.Leu4520=)
c.16278C>A (p.Leu5426=)
c.16275C>A (p.Leu5425=)
c.16197C>A (p.Leu5399=)
c.16182C>A (p.Leu5394=)
c.16098C>A (p.Leu5366=)
c.9396C>A (p.Leu3132=)
c.9375C>A (p.Leu3125=)
n.16273C>A
5g.90823485C=CA1562918264ADGRV1c.16257C= (p.Leu5419=)
c.5211C= (p.Leu1737=)
n.3524C=
c.265+147276C= (n.265+147276C=)
n.128+1303C=
c.2667C= (p.Leu889=)
c.3240C= (p.Leu1080=)
n.16270C=
c.16254C= (p.Leu5418=)
c.16176C= (p.Leu5392=)
c.13560C= (p.Leu4520=)
c.16278C= (p.Leu5426=)
c.16275C= (p.Leu5425=)
c.16197C= (p.Leu5399=)
c.16182C= (p.Leu5394=)
c.16098C= (p.Leu5366=)
c.9396C= (p.Leu3132=)
c.9375C= (p.Leu3125=)
n.16273C=
5g.90823485C>GCA445436555ADGRV1c.16257C>G (p.Leu5419=)
c.5211C>G (p.Leu1737=)
n.3524C>G
c.265+147276C>G (n.265+147276C>G)
n.128+1303C>G
c.2667C>G (p.Leu889=)
c.3240C>G (p.Leu1080=)
n.16270C>G
c.16254C>G (p.Leu5418=)
c.16176C>G (p.Leu5392=)
c.13560C>G (p.Leu4520=)
c.16278C>G (p.Leu5426=)
c.16275C>G (p.Leu5425=)
c.16197C>G (p.Leu5399=)
c.16182C>G (p.Leu5394=)
c.16098C>G (p.Leu5366=)
c.9396C>G (p.Leu3132=)
c.9375C>G (p.Leu3125=)
n.16273C>G
 dbSNP gnomAD v3 gnomAD v4
5g.90823485C>TCA445436557ADGRV1c.16257C>T (p.Leu5419=)
c.5211C>T (p.Leu1737=)
n.3524C>T
c.265+147276C>T (n.265+147276C>T)
n.128+1303C>T
c.2667C>T (p.Leu889=)
c.3240C>T (p.Leu1080=)
n.16270C>T
c.16254C>T (p.Leu5418=)
c.16176C>T (p.Leu5392=)
c.13560C>T (p.Leu4520=)
c.16278C>T (p.Leu5426=)
c.16275C>T (p.Leu5425=)
c.16197C>T (p.Leu5399=)
c.16182C>T (p.Leu5394=)
c.16098C>T (p.Leu5366=)
c.9396C>T (p.Leu3132=)
c.9375C>T (p.Leu3125=)
n.16273C>T
5g.90823486C>ACA10576675ADGRV1c.16258C>A (p.Gln5420Lys)
c.5212C>A (p.Gln1738Lys)
n.3525C>A
c.265+147277C>A (n.265+147277C>A)
n.128+1304C>A
c.2668C>A (p.Gln890Lys)
c.3241C>A (p.Gln1081Lys)
n.16271C>A
c.16255C>A (p.Gln5419Lys)
c.16177C>A (p.Gln5393Lys)
c.13561C>A (p.Gln4521Lys)
c.16279C>A (p.Gln5427Lys)
c.16276C>A (p.Gln5426Lys)
c.16198C>A (p.Gln5400Lys)
c.16183C>A (p.Gln5395Lys)
c.16099C>A (p.Gln5367Lys)
c.9397C>A (p.Gln3133Lys)
c.9376C>A (p.Gln3126Lys)
n.16274C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.90823486C=CA1562918265ADGRV1c.16258C= (p.Gln5420=)
c.5212C= (p.Gln1738=)
n.3525C=
c.265+147277C= (n.265+147277C=)
n.128+1304C=
c.2668C= (p.Gln890=)
c.3241C= (p.Gln1081=)
n.16271C=
c.16255C= (p.Gln5419=)
c.16177C= (p.Gln5393=)
c.13561C= (p.Gln4521=)
c.16279C= (p.Gln5427=)
c.16276C= (p.Gln5426=)
c.16198C= (p.Gln5400=)
c.16183C= (p.Gln5395=)
c.16099C= (p.Gln5367=)
c.9397C= (p.Gln3133=)
c.9376C= (p.Gln3126=)
n.16274C=
5g.90823486C>GCA360425558ADGRV1c.16258C>G (p.Gln5420Glu)
c.5212C>G (p.Gln1738Glu)
n.3525C>G
c.265+147277C>G (n.265+147277C>G)
n.128+1304C>G
c.2668C>G (p.Gln890Glu)
c.3241C>G (p.Gln1081Glu)
n.16271C>G
c.16255C>G (p.Gln5419Glu)
c.16177C>G (p.Gln5393Glu)
c.13561C>G (p.Gln4521Glu)
c.16279C>G (p.Gln5427Glu)
c.16276C>G (p.Gln5426Glu)
c.16198C>G (p.Gln5400Glu)
c.16183C>G (p.Gln5395Glu)
c.16099C>G (p.Gln5367Glu)
c.9397C>G (p.Gln3133Glu)
c.9376C>G (p.Gln3126Glu)
n.16274C>G
5g.90823486C>TCA360425559ADGRV1c.16258C>T (p.Gln5420Ter)
c.5212C>T (p.Gln1738Ter)
n.3525C>T
c.265+147277C>T (n.265+147277C>T)
n.128+1304C>T
c.2668C>T (p.Gln890Ter)
c.3241C>T (p.Gln1081Ter)
n.16271C>T
c.16255C>T (p.Gln5419Ter)
c.16177C>T (p.Gln5393Ter)
c.13561C>T (p.Gln4521Ter)
c.16279C>T (p.Gln5427Ter)
c.16276C>T (p.Gln5426Ter)
c.16198C>T (p.Gln5400Ter)
c.16183C>T (p.Gln5395Ter)
c.16099C>T (p.Gln5367Ter)
c.9397C>T (p.Gln3133Ter)
c.9376C>T (p.Gln3126Ter)
n.16274C>T
5g.90823487A=CA1562918266ADGRV1c.16259A= (p.Gln5420=)
c.5213A= (p.Gln1738=)
n.3526A=
c.265+147278A= (n.265+147278A=)
n.128+1305A=
c.2669A= (p.Gln890=)
c.3242A= (p.Gln1081=)
n.16272A=
c.16256A= (p.Gln5419=)
c.16178A= (p.Gln5393=)
c.13562A= (p.Gln4521=)
c.16280A= (p.Gln5427=)
c.16277A= (p.Gln5426=)
c.16199A= (p.Gln5400=)
c.16184A= (p.Gln5395=)
c.16100A= (p.Gln5367=)
c.9398A= (p.Gln3133=)
c.9377A= (p.Gln3126=)
n.16275A=
5g.90823487A>CCA360425561ADGRV1c.16259A>C (p.Gln5420Pro)
c.5213A>C (p.Gln1738Pro)
n.3526A>C
c.265+147278A>C (n.265+147278A>C)
n.128+1305A>C
c.2669A>C (p.Gln890Pro)
c.3242A>C (p.Gln1081Pro)
n.16272A>C
c.16256A>C (p.Gln5419Pro)
c.16178A>C (p.Gln5393Pro)
c.13562A>C (p.Gln4521Pro)
c.16280A>C (p.Gln5427Pro)
c.16277A>C (p.Gln5426Pro)
c.16199A>C (p.Gln5400Pro)
c.16184A>C (p.Gln5395Pro)
c.16100A>C (p.Gln5367Pro)
c.9398A>C (p.Gln3133Pro)
c.9377A>C (p.Gln3126Pro)
n.16275A>C
5g.90823487A>GCA360425562ADGRV1c.16259A>G (p.Gln5420Arg)
c.5213A>G (p.Gln1738Arg)
n.3526A>G
c.265+147278A>G (n.265+147278A>G)
n.128+1305A>G
c.2669A>G (p.Gln890Arg)
c.3242A>G (p.Gln1081Arg)
n.16272A>G
c.16256A>G (p.Gln5419Arg)
c.16178A>G (p.Gln5393Arg)
c.13562A>G (p.Gln4521Arg)
c.16280A>G (p.Gln5427Arg)
c.16277A>G (p.Gln5426Arg)
c.16199A>G (p.Gln5400Arg)
c.16184A>G (p.Gln5395Arg)
c.16100A>G (p.Gln5367Arg)
c.9398A>G (p.Gln3133Arg)
c.9377A>G (p.Gln3126Arg)
n.16275A>G
 dbSNP gnomAD v2 gnomAD v4
5g.90823487A>TCA360425560ADGRV1c.16259A>T (p.Gln5420Leu)
c.5213A>T (p.Gln1738Leu)
n.3526A>T
c.265+147278A>T (n.265+147278A>T)
n.128+1305A>T
c.2669A>T (p.Gln890Leu)
c.3242A>T (p.Gln1081Leu)
n.16272A>T
c.16256A>T (p.Gln5419Leu)
c.16178A>T (p.Gln5393Leu)
c.13562A>T (p.Gln4521Leu)
c.16280A>T (p.Gln5427Leu)
c.16277A>T (p.Gln5426Leu)
c.16199A>T (p.Gln5400Leu)
c.16184A>T (p.Gln5395Leu)
c.16100A>T (p.Gln5367Leu)
c.9398A>T (p.Gln3133Leu)
c.9377A>T (p.Gln3126Leu)
n.16275A>T
5g.90823489_90823491delCA2674577100ADGRV1c.16261_16263del (p.Lys5421del)
c.5215_5217del (p.Lys1739del)
n.3528_3530del
c.265+147280_265+147282del (n.265+147280_265+147282del)
n.128+1307_128+1309del
c.2671_2673del (p.Lys891del)
c.3244_3246del (p.Lys1082del)
n.16274_16276del
c.16258_16260del (p.Lys5420del)
c.16180_16182del (p.Lys5394del)
c.13564_13566del (p.Lys4522del)
c.16282_16284del (p.Lys5428del)
c.16279_16281del (p.Lys5427del)
c.16201_16203del (p.Lys5401del)
c.16186_16188del (p.Lys5396del)
c.16102_16104del (p.Lys5368del)
c.9400_9402del (p.Lys3134del)
c.9379_9381del (p.Lys3127del)
n.16277_16279del
 gnomAD v4
5g.90823488G>ACA445436559ADGRV1c.16260G>A (p.Gln5420=)
c.5214G>A (p.Gln1738=)
n.3527G>A
c.265+147279G>A (n.265+147279G>A)
n.128+1306G>A
c.2670G>A (p.Gln890=)
c.3243G>A (p.Gln1081=)
n.16273G>A
c.16257G>A (p.Gln5419=)
c.16179G>A (p.Gln5393=)
c.13563G>A (p.Gln4521=)
c.16281G>A (p.Gln5427=)
c.16278G>A (p.Gln5426=)
c.16200G>A (p.Gln5400=)
c.16185G>A (p.Gln5395=)
c.16101G>A (p.Gln5367=)
c.9399G>A (p.Gln3133=)
c.9378G>A (p.Gln3126=)
n.16276G>A
 dbSNP gnomAD v2
5g.90823488G>CCA360425563ADGRV1c.16260G>C (p.Gln5420His)
c.5214G>C (p.Gln1738His)
n.3527G>C
c.265+147279G>C (n.265+147279G>C)
n.128+1306G>C
c.2670G>C (p.Gln890His)
c.3243G>C (p.Gln1081His)
n.16273G>C
c.16257G>C (p.Gln5419His)
c.16179G>C (p.Gln5393His)
c.13563G>C (p.Gln4521His)
c.16281G>C (p.Gln5427His)
c.16278G>C (p.Gln5426His)
c.16200G>C (p.Gln5400His)
c.16185G>C (p.Gln5395His)
c.16101G>C (p.Gln5367His)
c.9399G>C (p.Gln3133His)
c.9378G>C (p.Gln3126His)
n.16276G>C
5g.90823488G=CA1562918267ADGRV1c.16260G= (p.Gln5420=)
c.5214G= (p.Gln1738=)
n.3527G=
c.265+147279G= (n.265+147279G=)
n.128+1306G=
c.2670G= (p.Gln890=)
c.3243G= (p.Gln1081=)
n.16273G=
c.16257G= (p.Gln5419=)
c.16179G= (p.Gln5393=)
c.13563G= (p.Gln4521=)
c.16281G= (p.Gln5427=)
c.16278G= (p.Gln5426=)
c.16200G= (p.Gln5400=)
c.16185G= (p.Gln5395=)
c.16101G= (p.Gln5367=)
c.9399G= (p.Gln3133=)
c.9378G= (p.Gln3126=)
n.16276G=
5g.90823488G>TCA360425564ADGRV1c.16260G>T (p.Gln5420His)
c.5214G>T (p.Gln1738His)
n.3527G>T
c.265+147279G>T (n.265+147279G>T)
n.128+1306G>T
c.2670G>T (p.Gln890His)
c.3243G>T (p.Gln1081His)
n.16273G>T
c.16257G>T (p.Gln5419His)
c.16179G>T (p.Gln5393His)
c.13563G>T (p.Gln4521His)
c.16281G>T (p.Gln5427His)
c.16278G>T (p.Gln5426His)
c.16200G>T (p.Gln5400His)
c.16185G>T (p.Gln5395His)
c.16101G>T (p.Gln5367His)
c.9399G>T (p.Gln3133His)
c.9378G>T (p.Gln3126His)
n.16276G>T
5g.90823489A>CCA360425565ADGRV1c.16261A>C (p.Lys5421Gln)
c.5215A>C (p.Lys1739Gln)
n.3528A>C
c.265+147280A>C (n.265+147280A>C)
n.128+1307A>C
c.2671A>C (p.Lys891Gln)
c.3244A>C (p.Lys1082Gln)
n.16274A>C
c.16258A>C (p.Lys5420Gln)
c.16180A>C (p.Lys5394Gln)
c.13564A>C (p.Lys4522Gln)
c.16282A>C (p.Lys5428Gln)
c.16279A>C (p.Lys5427Gln)
c.16201A>C (p.Lys5401Gln)
c.16186A>C (p.Lys5396Gln)
c.16102A>C (p.Lys5368Gln)
c.9400A>C (p.Lys3134Gln)
c.9379A>C (p.Lys3127Gln)
n.16277A>C
 gnomAD v4
5g.90823489A>GCA360425566ADGRV1c.16261A>G (p.Lys5421Glu)
c.5215A>G (p.Lys1739Glu)
n.3528A>G
c.265+147280A>G (n.265+147280A>G)
n.128+1307A>G
c.2671A>G (p.Lys891Glu)
c.3244A>G (p.Lys1082Glu)
n.16274A>G
c.16258A>G (p.Lys5420Glu)
c.16180A>G (p.Lys5394Glu)
c.13564A>G (p.Lys4522Glu)
c.16282A>G (p.Lys5428Glu)
c.16279A>G (p.Lys5427Glu)
c.16201A>G (p.Lys5401Glu)
c.16186A>G (p.Lys5396Glu)
c.16102A>G (p.Lys5368Glu)
c.9400A>G (p.Lys3134Glu)
c.9379A>G (p.Lys3127Glu)
n.16277A>G
5g.90823489A>TCA360425567ADGRV1c.16261A>T (p.Lys5421Ter)
c.5215A>T (p.Lys1739Ter)
n.3528A>T
c.265+147280A>T (n.265+147280A>T)
n.128+1307A>T
c.2671A>T (p.Lys891Ter)
c.3244A>T (p.Lys1082Ter)
n.16274A>T
c.16258A>T (p.Lys5420Ter)
c.16180A>T (p.Lys5394Ter)
c.13564A>T (p.Lys4522Ter)
c.16282A>T (p.Lys5428Ter)
c.16279A>T (p.Lys5427Ter)
c.16201A>T (p.Lys5401Ter)
c.16186A>T (p.Lys5396Ter)
c.16102A>T (p.Lys5368Ter)
c.9400A>T (p.Lys3134Ter)
c.9379A>T (p.Lys3127Ter)
n.16277A>T
5g.90823490A=CA1562918268ADGRV1c.16262A= (p.Lys5421=)
c.5216A= (p.Lys1739=)
n.3529A=
c.265+147281A= (n.265+147281A=)
n.128+1308A=
c.2672A= (p.Lys891=)
c.3245A= (p.Lys1082=)
n.16275A=
c.16259A= (p.Lys5420=)
c.16181A= (p.Lys5394=)
c.13565A= (p.Lys4522=)
c.16283A= (p.Lys5428=)
c.16280A= (p.Lys5427=)
c.16202A= (p.Lys5401=)
c.16187A= (p.Lys5396=)
c.16103A= (p.Lys5368=)
c.9401A= (p.Lys3134=)
c.9380A= (p.Lys3127=)
n.16278A=
5g.90823490A>CCA360425569ADGRV1c.16262A>C (p.Lys5421Thr)
c.5216A>C (p.Lys1739Thr)
n.3529A>C
c.265+147281A>C (n.265+147281A>C)
n.128+1308A>C
c.2672A>C (p.Lys891Thr)
c.3245A>C (p.Lys1082Thr)
n.16275A>C
c.16259A>C (p.Lys5420Thr)
c.16181A>C (p.Lys5394Thr)
c.13565A>C (p.Lys4522Thr)
c.16283A>C (p.Lys5428Thr)
c.16280A>C (p.Lys5427Thr)
c.16202A>C (p.Lys5401Thr)
c.16187A>C (p.Lys5396Thr)
c.16103A>C (p.Lys5368Thr)
c.9401A>C (p.Lys3134Thr)
c.9380A>C (p.Lys3127Thr)
n.16278A>C
 gnomAD v4
5g.90823490A>GCA360425568ADGRV1c.16262A>G (p.Lys5421Arg)
c.5216A>G (p.Lys1739Arg)
n.3529A>G
c.265+147281A>G (n.265+147281A>G)
n.128+1308A>G
c.2672A>G (p.Lys891Arg)
c.3245A>G (p.Lys1082Arg)
n.16275A>G
c.16259A>G (p.Lys5420Arg)
c.16181A>G (p.Lys5394Arg)
c.13565A>G (p.Lys4522Arg)
c.16283A>G (p.Lys5428Arg)
c.16280A>G (p.Lys5427Arg)
c.16202A>G (p.Lys5401Arg)
c.16187A>G (p.Lys5396Arg)
c.16103A>G (p.Lys5368Arg)
c.9401A>G (p.Lys3134Arg)
c.9380A>G (p.Lys3127Arg)
n.16278A>G
5g.90823490A>TCA3342100ADGRV1c.16262A>T (p.Lys5421Met)
c.5216A>T (p.Lys1739Met)
n.3529A>T
c.265+147281A>T (n.265+147281A>T)
n.128+1308A>T
c.2672A>T (p.Lys891Met)
c.3245A>T (p.Lys1082Met)
n.16275A>T
c.16259A>T (p.Lys5420Met)
c.16181A>T (p.Lys5394Met)
c.13565A>T (p.Lys4522Met)
c.16283A>T (p.Lys5428Met)
c.16280A>T (p.Lys5427Met)
c.16202A>T (p.Lys5401Met)
c.16187A>T (p.Lys5396Met)
c.16103A>T (p.Lys5368Met)
c.9401A>T (p.Lys3134Met)
c.9380A>T (p.Lys3127Met)
n.16278A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.90823491G>ACA3342101ADGRV1c.16263G>A (p.Lys5421=)
c.5217G>A (p.Lys1739=)
n.3530G>A
c.265+147282G>A (n.265+147282G>A)
n.128+1309G>A
c.2673G>A (p.Lys891=)
c.3246G>A (p.Lys1082=)
n.16276G>A
c.16260G>A (p.Lys5420=)
c.16182G>A (p.Lys5394=)
c.13566G>A (p.Lys4522=)
c.16284G>A (p.Lys5428=)
c.16281G>A (p.Lys5427=)
c.16203G>A (p.Lys5401=)
c.16188G>A (p.Lys5396=)
c.16104G>A (p.Lys5368=)
c.9402G>A (p.Lys3134=)
c.9381G>A (p.Lys3127=)
n.16279G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90823491G>CCA360425570ADGRV1c.16263G>C (p.Lys5421Asn)
c.5217G>C (p.Lys1739Asn)
n.3530G>C
c.265+147282G>C (n.265+147282G>C)
n.128+1309G>C
c.2673G>C (p.Lys891Asn)
c.3246G>C (p.Lys1082Asn)
n.16276G>C
c.16260G>C (p.Lys5420Asn)
c.16182G>C (p.Lys5394Asn)
c.13566G>C (p.Lys4522Asn)
c.16284G>C (p.Lys5428Asn)
c.16281G>C (p.Lys5427Asn)
c.16203G>C (p.Lys5401Asn)
c.16188G>C (p.Lys5396Asn)
c.16104G>C (p.Lys5368Asn)
c.9402G>C (p.Lys3134Asn)
c.9381G>C (p.Lys3127Asn)
n.16279G>C
5g.90823491G=CA1562918269ADGRV1c.16263G= (p.Lys5421=)
c.5217G= (p.Lys1739=)
n.3530G=
c.265+147282G= (n.265+147282G=)
n.128+1309G=
c.2673G= (p.Lys891=)
c.3246G= (p.Lys1082=)
n.16276G=
c.16260G= (p.Lys5420=)
c.16182G= (p.Lys5394=)
c.13566G= (p.Lys4522=)
c.16284G= (p.Lys5428=)
c.16281G= (p.Lys5427=)
c.16203G= (p.Lys5401=)
c.16188G= (p.Lys5396=)
c.16104G= (p.Lys5368=)
c.9402G= (p.Lys3134=)
c.9381G= (p.Lys3127=)
n.16279G=
5g.90823491G>TCA360425571ADGRV1c.16263G>T (p.Lys5421Asn)
c.5217G>T (p.Lys1739Asn)
n.3530G>T
c.265+147282G>T (n.265+147282G>T)
n.128+1309G>T
c.2673G>T (p.Lys891Asn)
c.3246G>T (p.Lys1082Asn)
n.16276G>T
c.16260G>T (p.Lys5420Asn)
c.16182G>T (p.Lys5394Asn)
c.13566G>T (p.Lys4522Asn)
c.16284G>T (p.Lys5428Asn)
c.16281G>T (p.Lys5427Asn)
c.16203G>T (p.Lys5401Asn)
c.16188G>T (p.Lys5396Asn)
c.16104G>T (p.Lys5368Asn)
c.9402G>T (p.Lys3134Asn)
c.9381G>T (p.Lys3127Asn)
n.16279G>T
 gnomAD v4
5g.90823492G>ACA360425572ADGRV1c.16264G>A (p.Asp5422Asn)
c.5218G>A (p.Asp1740Asn)
n.3531G>A
c.265+147283G>A (n.265+147283G>A)
n.128+1310G>A
c.2674G>A (p.Asp892Asn)
c.3247G>A (p.Asp1083Asn)
n.16277G>A
c.16261G>A (p.Asp5421Asn)
c.16183G>A (p.Asp5395Asn)
c.13567G>A (p.Asp4523Asn)
c.16285G>A (p.Asp5429Asn)
c.16282G>A (p.Asp5428Asn)
c.16204G>A (p.Asp5402Asn)
c.16189G>A (p.Asp5397Asn)
c.16105G>A (p.Asp5369Asn)
c.9403G>A (p.Asp3135Asn)
c.9382G>A (p.Asp3128Asn)
n.16280G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.90823492G>CCA360425573ADGRV1c.16264G>C (p.Asp5422His)
c.5218G>C (p.Asp1740His)
n.3531G>C
c.265+147283G>C (n.265+147283G>C)
n.128+1310G>C
c.2674G>C (p.Asp892His)
c.3247G>C (p.Asp1083His)
n.16277G>C
c.16261G>C (p.Asp5421His)
c.16183G>C (p.Asp5395His)
c.13567G>C (p.Asp4523His)
c.16285G>C (p.Asp5429His)
c.16282G>C (p.Asp5428His)
c.16204G>C (p.Asp5402His)
c.16189G>C (p.Asp5397His)
c.16105G>C (p.Asp5369His)
c.9403G>C (p.Asp3135His)
c.9382G>C (p.Asp3128His)
n.16280G>C
5g.90823492G=CA1562918270ADGRV1c.16264G= (p.Asp5422=)
c.5218G= (p.Asp1740=)
n.3531G=
c.265+147283G= (n.265+147283G=)
n.128+1310G=
c.2674G= (p.Asp892=)
c.3247G= (p.Asp1083=)
n.16277G=
c.16261G= (p.Asp5421=)
c.16183G= (p.Asp5395=)
c.13567G= (p.Asp4523=)
c.16285G= (p.Asp5429=)
c.16282G= (p.Asp5428=)
c.16204G= (p.Asp5402=)
c.16189G= (p.Asp5397=)
c.16105G= (p.Asp5369=)
c.9403G= (p.Asp3135=)
c.9382G= (p.Asp3128=)
n.16280G=
5g.90823492G>TCA122804093ADGRV1c.16264G>T (p.Asp5422Tyr)
c.5218G>T (p.Asp1740Tyr)
n.3531G>T
c.265+147283G>T (n.265+147283G>T)
n.128+1310G>T
c.2674G>T (p.Asp892Tyr)
c.3247G>T (p.Asp1083Tyr)
n.16277G>T
c.16261G>T (p.Asp5421Tyr)
c.16183G>T (p.Asp5395Tyr)
c.13567G>T (p.Asp4523Tyr)
c.16285G>T (p.Asp5429Tyr)
c.16282G>T (p.Asp5428Tyr)
c.16204G>T (p.Asp5402Tyr)
c.16189G>T (p.Asp5397Tyr)
c.16105G>T (p.Asp5369Tyr)
c.9403G>T (p.Asp3135Tyr)
c.9382G>T (p.Asp3128Tyr)
n.16280G>T
 ClinVar dbSNP
5g.90823493A>CCA360425574ADGRV1c.16265A>C (p.Asp5422Ala)
c.5219A>C (p.Asp1740Ala)
n.3532A>C
c.265+147284A>C (n.265+147284A>C)
n.128+1311A>C
c.2675A>C (p.Asp892Ala)
c.3248A>C (p.Asp1083Ala)
n.16278A>C
c.16262A>C (p.Asp5421Ala)
c.16184A>C (p.Asp5395Ala)
c.13568A>C (p.Asp4523Ala)
c.16286A>C (p.Asp5429Ala)
c.16283A>C (p.Asp5428Ala)
c.16205A>C (p.Asp5402Ala)
c.16190A>C (p.Asp5397Ala)
c.16106A>C (p.Asp5369Ala)
c.9404A>C (p.Asp3135Ala)
c.9383A>C (p.Asp3128Ala)
n.16281A>C
5g.90823493A>GCA360425576ADGRV1c.16265A>G (p.Asp5422Gly)
c.5219A>G (p.Asp1740Gly)
n.3532A>G
c.265+147284A>G (n.265+147284A>G)
n.128+1311A>G
c.2675A>G (p.Asp892Gly)
c.3248A>G (p.Asp1083Gly)
n.16278A>G
c.16262A>G (p.Asp5421Gly)
c.16184A>G (p.Asp5395Gly)
c.13568A>G (p.Asp4523Gly)
c.16286A>G (p.Asp5429Gly)
c.16283A>G (p.Asp5428Gly)
c.16205A>G (p.Asp5402Gly)
c.16190A>G (p.Asp5397Gly)
c.16106A>G (p.Asp5369Gly)
c.9404A>G (p.Asp3135Gly)
c.9383A>G (p.Asp3128Gly)
n.16281A>G
5g.90823493A>TCA360425575ADGRV1c.16265A>T (p.Asp5422Val)
c.5219A>T (p.Asp1740Val)
n.3532A>T
c.265+147284A>T (n.265+147284A>T)
n.128+1311A>T
c.2675A>T (p.Asp892Val)
c.3248A>T (p.Asp1083Val)
n.16278A>T
c.16262A>T (p.Asp5421Val)
c.16184A>T (p.Asp5395Val)
c.13568A>T (p.Asp4523Val)
c.16286A>T (p.Asp5429Val)
c.16283A>T (p.Asp5428Val)
c.16205A>T (p.Asp5402Val)
c.16190A>T (p.Asp5397Val)
c.16106A>T (p.Asp5369Val)
c.9404A>T (p.Asp3135Val)
c.9383A>T (p.Asp3128Val)
n.16281A>T
 gnomAD v4
5g.90823494T>ACA360425577ADGRV1c.16266T>A (p.Asp5422Glu)
c.5220T>A (p.Asp1740Glu)
n.3533T>A
c.265+147285T>A (n.265+147285T>A)
n.128+1312T>A
c.2676T>A (p.Asp892Glu)
c.3249T>A (p.Asp1083Glu)
n.16279T>A
c.16263T>A (p.Asp5421Glu)
c.16185T>A (p.Asp5395Glu)
c.13569T>A (p.Asp4523Glu)
c.16287T>A (p.Asp5429Glu)
c.16284T>A (p.Asp5428Glu)
c.16206T>A (p.Asp5402Glu)
c.16191T>A (p.Asp5397Glu)
c.16107T>A (p.Asp5369Glu)
c.9405T>A (p.Asp3135Glu)
c.9384T>A (p.Asp3128Glu)
n.16282T>A
5g.90823494T>CCA3342102ADGRV1c.16266T>C (p.Asp5422=)
c.5220T>C (p.Asp1740=)
n.3533T>C
c.265+147285T>C (n.265+147285T>C)
n.128+1312T>C
c.2676T>C (p.Asp892=)
c.3249T>C (p.Asp1083=)
n.16279T>C
c.16263T>C (p.Asp5421=)
c.16185T>C (p.Asp5395=)
c.13569T>C (p.Asp4523=)
c.16287T>C (p.Asp5429=)
c.16284T>C (p.Asp5428=)
c.16206T>C (p.Asp5402=)
c.16191T>C (p.Asp5397=)
c.16107T>C (p.Asp5369=)
c.9405T>C (p.Asp3135=)
c.9384T>C (p.Asp3128=)
n.16282T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90823494T>GCA360425578ADGRV1c.16266T>G (p.Asp5422Glu)
c.5220T>G (p.Asp1740Glu)
n.3533T>G
c.265+147285T>G (n.265+147285T>G)
n.128+1312T>G
c.2676T>G (p.Asp892Glu)
c.3249T>G (p.Asp1083Glu)
n.16279T>G
c.16263T>G (p.Asp5421Glu)
c.16185T>G (p.Asp5395Glu)
c.13569T>G (p.Asp4523Glu)
c.16287T>G (p.Asp5429Glu)
c.16284T>G (p.Asp5428Glu)
c.16206T>G (p.Asp5402Glu)
c.16191T>G (p.Asp5397Glu)
c.16107T>G (p.Asp5369Glu)
c.9405T>G (p.Asp3135Glu)
c.9384T>G (p.Asp3128Glu)
n.16282T>G
5g.90823494T=CA1562918271ADGRV1c.16266T= (p.Asp5422=)
c.5220T= (p.Asp1740=)
n.3533T=
c.265+147285T= (n.265+147285T=)
n.128+1312T=
c.2676T= (p.Asp892=)
c.3249T= (p.Asp1083=)
n.16279T=
c.16263T= (p.Asp5421=)
c.16185T= (p.Asp5395=)
c.13569T= (p.Asp4523=)
c.16287T= (p.Asp5429=)
c.16284T= (p.Asp5428=)
c.16206T= (p.Asp5402=)
c.16191T= (p.Asp5397=)
c.16107T= (p.Asp5369=)
c.9405T= (p.Asp3135=)
c.9384T= (p.Asp3128=)
n.16282T=
5g.90823495G>ACA360425579ADGRV1c.16267G>A (p.Gly5423Arg)
c.5221G>A (p.Gly1741Arg)
n.3534G>A
c.265+147286G>A (n.265+147286G>A)
n.128+1313G>A
c.2677G>A (p.Gly893Arg)
c.3250G>A (p.Gly1084Arg)
n.16280G>A
c.16264G>A (p.Gly5422Arg)
c.16186G>A (p.Gly5396Arg)
c.13570G>A (p.Gly4524Arg)
c.16288G>A (p.Gly5430Arg)
c.16285G>A (p.Gly5429Arg)
c.16207G>A (p.Gly5403Arg)
c.16192G>A (p.Gly5398Arg)
c.16108G>A (p.Gly5370Arg)
c.9406G>A (p.Gly3136Arg)
c.9385G>A (p.Gly3129Arg)
n.16283G>A
 dbSNP gnomAD v2 gnomAD v4
5g.90823495G>CCA360425580ADGRV1c.16267G>C (p.Gly5423Arg)
c.5221G>C (p.Gly1741Arg)
n.3534G>C
c.265+147286G>C (n.265+147286G>C)
n.128+1313G>C
c.2677G>C (p.Gly893Arg)
c.3250G>C (p.Gly1084Arg)
n.16280G>C
c.16264G>C (p.Gly5422Arg)
c.16186G>C (p.Gly5396Arg)
c.13570G>C (p.Gly4524Arg)
c.16288G>C (p.Gly5430Arg)
c.16285G>C (p.Gly5429Arg)
c.16207G>C (p.Gly5403Arg)
c.16192G>C (p.Gly5398Arg)
c.16108G>C (p.Gly5370Arg)
c.9406G>C (p.Gly3136Arg)
c.9385G>C (p.Gly3129Arg)
n.16283G>C
5g.90823495G=CA1562918272ADGRV1c.16267G= (p.Gly5423=)
c.5221G= (p.Gly1741=)
n.3534G=
c.265+147286G= (n.265+147286G=)
n.128+1313G=
c.2677G= (p.Gly893=)
c.3250G= (p.Gly1084=)
n.16280G=
c.16264G= (p.Gly5422=)
c.16186G= (p.Gly5396=)
c.13570G= (p.Gly4524=)
c.16288G= (p.Gly5430=)
c.16285G= (p.Gly5429=)
c.16207G= (p.Gly5403=)
c.16192G= (p.Gly5398=)
c.16108G= (p.Gly5370=)
c.9406G= (p.Gly3136=)
c.9385G= (p.Gly3129=)
n.16283G=
5g.90823495G>TCA360425581ADGRV1c.16267G>T (p.Gly5423Trp)
c.5221G>T (p.Gly1741Trp)
n.3534G>T
c.265+147286G>T (n.265+147286G>T)
n.128+1313G>T
c.2677G>T (p.Gly893Trp)
c.3250G>T (p.Gly1084Trp)
n.16280G>T
c.16264G>T (p.Gly5422Trp)
c.16186G>T (p.Gly5396Trp)
c.13570G>T (p.Gly4524Trp)
c.16288G>T (p.Gly5430Trp)
c.16285G>T (p.Gly5429Trp)
c.16207G>T (p.Gly5403Trp)
c.16192G>T (p.Gly5398Trp)
c.16108G>T (p.Gly5370Trp)
c.9406G>T (p.Gly3136Trp)
c.9385G>T (p.Gly3129Trp)
n.16283G>T
 gnomAD v4
5g.90823496G>ACA360425582ADGRV1c.16268G>A (p.Gly5423Glu)
c.5222G>A (p.Gly1741Glu)
n.3535G>A
c.265+147287G>A (n.265+147287G>A)
n.128+1314G>A
c.2678G>A (p.Gly893Glu)
c.3251G>A (p.Gly1084Glu)
n.16281G>A
c.16265G>A (p.Gly5422Glu)
c.16187G>A (p.Gly5396Glu)
c.13571G>A (p.Gly4524Glu)
c.16289G>A (p.Gly5430Glu)
c.16286G>A (p.Gly5429Glu)
c.16208G>A (p.Gly5403Glu)
c.16193G>A (p.Gly5398Glu)
c.16109G>A (p.Gly5370Glu)
c.9407G>A (p.Gly3136Glu)
c.9386G>A (p.Gly3129Glu)
n.16284G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
5g.90823496G>CCA3342103ADGRV1c.16268G>C (p.Gly5423Ala)
c.5222G>C (p.Gly1741Ala)
n.3535G>C
c.265+147287G>C (n.265+147287G>C)
n.128+1314G>C
c.2678G>C (p.Gly893Ala)
c.3251G>C (p.Gly1084Ala)
n.16281G>C
c.16265G>C (p.Gly5422Ala)
c.16187G>C (p.Gly5396Ala)
c.13571G>C (p.Gly4524Ala)
c.16289G>C (p.Gly5430Ala)
c.16286G>C (p.Gly5429Ala)
c.16208G>C (p.Gly5403Ala)
c.16193G>C (p.Gly5398Ala)
c.16109G>C (p.Gly5370Ala)
c.9407G>C (p.Gly3136Ala)
c.9386G>C (p.Gly3129Ala)
n.16284G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90823496G=CA1562918273ADGRV1c.16268G= (p.Gly5423=)
c.5222G= (p.Gly1741=)
n.3535G=
c.265+147287G= (n.265+147287G=)
n.128+1314G=
c.2678G= (p.Gly893=)
c.3251G= (p.Gly1084=)
n.16281G=
c.16265G= (p.Gly5422=)
c.16187G= (p.Gly5396=)
c.13571G= (p.Gly4524=)
c.16289G= (p.Gly5430=)
c.16286G= (p.Gly5429=)
c.16208G= (p.Gly5403=)
c.16193G= (p.Gly5398=)
c.16109G= (p.Gly5370=)
c.9407G= (p.Gly3136=)
c.9386G= (p.Gly3129=)
n.16284G=
5g.90823496G>TCA360425583ADGRV1c.16268G>T (p.Gly5423Val)
c.5222G>T (p.Gly1741Val)
n.3535G>T
c.265+147287G>T (n.265+147287G>T)
n.128+1314G>T
c.2678G>T (p.Gly893Val)
c.3251G>T (p.Gly1084Val)
n.16281G>T
c.16265G>T (p.Gly5422Val)
c.16187G>T (p.Gly5396Val)
c.13571G>T (p.Gly4524Val)
c.16289G>T (p.Gly5430Val)
c.16286G>T (p.Gly5429Val)
c.16208G>T (p.Gly5403Val)
c.16193G>T (p.Gly5398Val)
c.16109G>T (p.Gly5370Val)
c.9407G>T (p.Gly3136Val)
c.9386G>T (p.Gly3129Val)
n.16284G>T
 gnomAD v4
5g.90823497G>ACA122804101ADGRV1c.16269G>A (p.Gly5423=)
c.5223G>A (p.Gly1741=)
n.3536G>A
c.265+147288G>A (n.265+147288G>A)
n.128+1315G>A
c.2679G>A (p.Gly893=)
c.3252G>A (p.Gly1084=)
n.16282G>A
c.16266G>A (p.Gly5422=)
c.16188G>A (p.Gly5396=)
c.13572G>A (p.Gly4524=)
c.16290G>A (p.Gly5430=)
c.16287G>A (p.Gly5429=)
c.16209G>A (p.Gly5403=)
c.16194G>A (p.Gly5398=)
c.16110G>A (p.Gly5370=)
c.9408G>A (p.Gly3136=)
c.9387G>A (p.Gly3129=)
n.16285G>A
 dbSNP gnomAD v4
5g.90823497G>CCA445436560ADGRV1c.16269G>C (p.Gly5423=)
c.5223G>C (p.Gly1741=)
n.3536G>C
c.265+147288G>C (n.265+147288G>C)
n.128+1315G>C
c.2679G>C (p.Gly893=)
c.3252G>C (p.Gly1084=)
n.16282G>C
c.16266G>C (p.Gly5422=)
c.16188G>C (p.Gly5396=)
c.13572G>C (p.Gly4524=)
c.16290G>C (p.Gly5430=)
c.16287G>C (p.Gly5429=)
c.16209G>C (p.Gly5403=)
c.16194G>C (p.Gly5398=)
c.16110G>C (p.Gly5370=)
c.9408G>C (p.Gly3136=)
c.9387G>C (p.Gly3129=)
n.16285G>C
5g.90823497G=CA1562918274ADGRV1c.16269G= (p.Gly5423=)
c.5223G= (p.Gly1741=)
n.3536G=
c.265+147288G= (n.265+147288G=)
n.128+1315G=
c.2679G= (p.Gly893=)
c.3252G= (p.Gly1084=)
n.16282G=
c.16266G= (p.Gly5422=)
c.16188G= (p.Gly5396=)
c.13572G= (p.Gly4524=)
c.16290G= (p.Gly5430=)
c.16287G= (p.Gly5429=)
c.16209G= (p.Gly5403=)
c.16194G= (p.Gly5398=)
c.16110G= (p.Gly5370=)
c.9408G= (p.Gly3136=)
c.9387G= (p.Gly3129=)
n.16285G=
5g.90823497G>TCA445436561ADGRV1c.16269G>T (p.Gly5423=)
c.5223G>T (p.Gly1741=)
n.3536G>T
c.265+147288G>T (n.265+147288G>T)
n.128+1315G>T
c.2679G>T (p.Gly893=)
c.3252G>T (p.Gly1084=)
n.16282G>T
c.16266G>T (p.Gly5422=)
c.16188G>T (p.Gly5396=)
c.13572G>T (p.Gly4524=)
c.16290G>T (p.Gly5430=)
c.16287G>T (p.Gly5429=)
c.16209G>T (p.Gly5403=)
c.16194G>T (p.Gly5398=)
c.16110G>T (p.Gly5370=)
c.9408G>T (p.Gly3136=)
c.9387G>T (p.Gly3129=)
n.16285G>T
 dbSNP
5g.90823498G>ACA360425584ADGRV1c.16270G>A (p.Val5424Ile)
c.5224G>A (p.Val1742Ile)
n.3537G>A
c.265+147289G>A (n.265+147289G>A)
n.128+1316G>A
c.2680G>A (p.Val894Ile)
c.3253G>A (p.Val1085Ile)
n.16283G>A
c.16267G>A (p.Val5423Ile)
c.16189G>A (p.Val5397Ile)
c.13573G>A (p.Val4525Ile)
c.16291G>A (p.Val5431Ile)
c.16288G>A (p.Val5430Ile)
c.16210G>A (p.Val5404Ile)
c.16195G>A (p.Val5399Ile)
c.16111G>A (p.Val5371Ile)
c.9409G>A (p.Val3137Ile)
c.9388G>A (p.Val3130Ile)
n.16286G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.90823498G>CCA360425585ADGRV1c.16270G>C (p.Val5424Leu)
c.5224G>C (p.Val1742Leu)
n.3537G>C
c.265+147289G>C (n.265+147289G>C)
n.128+1316G>C
c.2680G>C (p.Val894Leu)
c.3253G>C (p.Val1085Leu)
n.16283G>C
c.16267G>C (p.Val5423Leu)
c.16189G>C (p.Val5397Leu)
c.13573G>C (p.Val4525Leu)
c.16291G>C (p.Val5431Leu)
c.16288G>C (p.Val5430Leu)
c.16210G>C (p.Val5404Leu)
c.16195G>C (p.Val5399Leu)
c.16111G>C (p.Val5371Leu)
c.9409G>C (p.Val3137Leu)
c.9388G>C (p.Val3130Leu)
n.16286G>C
 ClinVar dbSNP
5g.90823498G=CA1562918275ADGRV1c.16270G= (p.Val5424=)
c.5224G= (p.Val1742=)
n.3537G=
c.265+147289G= (n.265+147289G=)
n.128+1316G=
c.2680G= (p.Val894=)
c.3253G= (p.Val1085=)
n.16283G=
c.16267G= (p.Val5423=)
c.16189G= (p.Val5397=)
c.13573G= (p.Val4525=)
c.16291G= (p.Val5431=)
c.16288G= (p.Val5430=)
c.16210G= (p.Val5404=)
c.16195G= (p.Val5399=)
c.16111G= (p.Val5371=)
c.9409G= (p.Val3137=)
c.9388G= (p.Val3130=)
n.16286G=
5g.90823498G>TCA360425586ADGRV1c.16270G>T (p.Val5424Leu)
c.5224G>T (p.Val1742Leu)
n.3537G>T
c.265+147289G>T (n.265+147289G>T)
n.128+1316G>T
c.2680G>T (p.Val894Leu)
c.3253G>T (p.Val1085Leu)
n.16283G>T
c.16267G>T (p.Val5423Leu)
c.16189G>T (p.Val5397Leu)
c.13573G>T (p.Val4525Leu)
c.16291G>T (p.Val5431Leu)
c.16288G>T (p.Val5430Leu)
c.16210G>T (p.Val5404Leu)
c.16195G>T (p.Val5399Leu)
c.16111G>T (p.Val5371Leu)
c.9409G>T (p.Val3137Leu)
c.9388G>T (p.Val3130Leu)
n.16286G>T
5g.90823499T>ACA360425589ADGRV1c.16271T>A (p.Val5424Glu)
c.5225T>A (p.Val1742Glu)
n.3538T>A
c.265+147290T>A (n.265+147290T>A)
n.128+1317T>A
c.2681T>A (p.Val894Glu)
c.3254T>A (p.Val1085Glu)
n.16284T>A
c.16268T>A (p.Val5423Glu)
c.16190T>A (p.Val5397Glu)
c.13574T>A (p.Val4525Glu)
c.16292T>A (p.Val5431Glu)
c.16289T>A (p.Val5430Glu)
c.16211T>A (p.Val5404Glu)
c.16196T>A (p.Val5399Glu)
c.16112T>A (p.Val5371Glu)
c.9410T>A (p.Val3137Glu)
c.9389T>A (p.Val3130Glu)
n.16287T>A
5g.90823499T>CCA360425588ADGRV1c.16271T>C (p.Val5424Ala)
c.5225T>C (p.Val1742Ala)
n.3538T>C
c.265+147290T>C (n.265+147290T>C)
n.128+1317T>C
c.2681T>C (p.Val894Ala)
c.3254T>C (p.Val1085Ala)
n.16284T>C
c.16268T>C (p.Val5423Ala)
c.16190T>C (p.Val5397Ala)
c.13574T>C (p.Val4525Ala)
c.16292T>C (p.Val5431Ala)
c.16289T>C (p.Val5430Ala)
c.16211T>C (p.Val5404Ala)
c.16196T>C (p.Val5399Ala)
c.16112T>C (p.Val5371Ala)
c.9410T>C (p.Val3137Ala)
c.9389T>C (p.Val3130Ala)
n.16287T>C
5g.90823499T>GCA360425587ADGRV1c.16271T>G (p.Val5424Gly)
c.5225T>G (p.Val1742Gly)
n.3538T>G
c.265+147290T>G (n.265+147290T>G)
n.128+1317T>G
c.2681T>G (p.Val894Gly)
c.3254T>G (p.Val1085Gly)
n.16284T>G
c.16268T>G (p.Val5423Gly)
c.16190T>G (p.Val5397Gly)
c.13574T>G (p.Val4525Gly)
c.16292T>G (p.Val5431Gly)
c.16289T>G (p.Val5430Gly)
c.16211T>G (p.Val5404Gly)
c.16196T>G (p.Val5399Gly)
c.16112T>G (p.Val5371Gly)
c.9410T>G (p.Val3137Gly)
c.9389T>G (p.Val3130Gly)
n.16287T>G
5g.90823500A>CCA445436562ADGRV1c.16272A>C (p.Val5424=)
c.5226A>C (p.Val1742=)
n.3539A>C
c.265+147291A>C (n.265+147291A>C)
n.128+1318A>C
c.2682A>C (p.Val894=)
c.3255A>C (p.Val1085=)
n.16285A>C
c.16269A>C (p.Val5423=)
c.16191A>C (p.Val5397=)
c.13575A>C (p.Val4525=)
c.16293A>C (p.Val5431=)
c.16290A>C (p.Val5430=)
c.16212A>C (p.Val5404=)
c.16197A>C (p.Val5399=)
c.16113A>C (p.Val5371=)
c.9411A>C (p.Val3137=)
c.9390A>C (p.Val3130=)
n.16288A>C
5g.90823500A>GCA445436563ADGRV1c.16272A>G (p.Val5424=)
c.5226A>G (p.Val1742=)
n.3539A>G
c.265+147291A>G (n.265+147291A>G)
n.128+1318A>G
c.2682A>G (p.Val894=)
c.3255A>G (p.Val1085=)
n.16285A>G
c.16269A>G (p.Val5423=)
c.16191A>G (p.Val5397=)
c.13575A>G (p.Val4525=)
c.16293A>G (p.Val5431=)
c.16290A>G (p.Val5430=)
c.16212A>G (p.Val5404=)
c.16197A>G (p.Val5399=)
c.16113A>G (p.Val5371=)
c.9411A>G (p.Val3137=)
c.9390A>G (p.Val3130=)
n.16288A>G
 gnomAD v4
5g.90823500A>TCA445436564ADGRV1c.16272A>T (p.Val5424=)
c.5226A>T (p.Val1742=)
n.3539A>T
c.265+147291A>T (n.265+147291A>T)
n.128+1318A>T
c.2682A>T (p.Val894=)
c.3255A>T (p.Val1085=)
n.16285A>T
c.16269A>T (p.Val5423=)
c.16191A>T (p.Val5397=)
c.13575A>T (p.Val4525=)
c.16293A>T (p.Val5431=)
c.16290A>T (p.Val5430=)
c.16212A>T (p.Val5404=)
c.16197A>T (p.Val5399=)
c.16113A>T (p.Val5371=)
c.9411A>T (p.Val3137=)
c.9390A>T (p.Val3130=)
n.16288A>T
5g.90823501A=CA1562918276ADGRV1c.16273A= (p.Asn5425=)
c.5227A= (p.Asn1743=)
n.3540A=
c.265+147292A= (n.265+147292A=)
n.128+1319A=
c.2683A= (p.Asn895=)
c.3256A= (p.Asn1086=)
n.16286A=
c.16270A= (p.Asn5424=)
c.16192A= (p.Asn5398=)
c.13576A= (p.Asn4526=)
c.16294A= (p.Asn5432=)
c.16291A= (p.Asn5431=)
c.16213A= (p.Asn5405=)
c.16198A= (p.Asn5400=)
c.16114A= (p.Asn5372=)
c.9412A= (p.Asn3138=)
c.9391A= (p.Asn3131=)
n.16289A=
5g.90823501A>CCA360425590ADGRV1c.16273A>C (p.Asn5425His)
c.5227A>C (p.Asn1743His)
n.3540A>C
c.265+147292A>C (n.265+147292A>C)
n.128+1319A>C
c.2683A>C (p.Asn895His)
c.3256A>C (p.Asn1086His)
n.16286A>C
c.16270A>C (p.Asn5424His)
c.16192A>C (p.Asn5398His)
c.13576A>C (p.Asn4526His)
c.16294A>C (p.Asn5432His)
c.16291A>C (p.Asn5431His)
c.16213A>C (p.Asn5405His)
c.16198A>C (p.Asn5400His)
c.16114A>C (p.Asn5372His)
c.9412A>C (p.Asn3138His)
c.9391A>C (p.Asn3131His)
n.16289A>C
5g.90823501A>GCA3342104ADGRV1c.16273A>G (p.Asn5425Asp)
c.5227A>G (p.Asn1743Asp)
n.3540A>G
c.265+147292A>G (n.265+147292A>G)
n.128+1319A>G
c.2683A>G (p.Asn895Asp)
c.3256A>G (p.Asn1086Asp)
n.16286A>G
c.16270A>G (p.Asn5424Asp)
c.16192A>G (p.Asn5398Asp)
c.13576A>G (p.Asn4526Asp)
c.16294A>G (p.Asn5432Asp)
c.16291A>G (p.Asn5431Asp)
c.16213A>G (p.Asn5405Asp)
c.16198A>G (p.Asn5400Asp)
c.16114A>G (p.Asn5372Asp)
c.9412A>G (p.Asn3138Asp)
c.9391A>G (p.Asn3131Asp)
n.16289A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90823501A>TCA360425591ADGRV1c.16273A>T (p.Asn5425Tyr)
c.5227A>T (p.Asn1743Tyr)
n.3540A>T
c.265+147292A>T (n.265+147292A>T)
n.128+1319A>T
c.2683A>T (p.Asn895Tyr)
c.3256A>T (p.Asn1086Tyr)
n.16286A>T
c.16270A>T (p.Asn5424Tyr)
c.16192A>T (p.Asn5398Tyr)
c.13576A>T (p.Asn4526Tyr)
c.16294A>T (p.Asn5432Tyr)
c.16291A>T (p.Asn5431Tyr)
c.16213A>T (p.Asn5405Tyr)
c.16198A>T (p.Asn5400Tyr)
c.16114A>T (p.Asn5372Tyr)
c.9412A>T (p.Asn3138Tyr)
c.9391A>T (p.Asn3131Tyr)
n.16289A>T
 gnomAD v4
5g.90823502A>CCA360425592ADGRV1c.16274A>C (p.Asn5425Thr)
c.5228A>C (p.Asn1743Thr)
n.3541A>C
c.265+147293A>C (n.265+147293A>C)
n.128+1320A>C
c.2684A>C (p.Asn895Thr)
c.3257A>C (p.Asn1086Thr)
n.16287A>C
c.16271A>C (p.Asn5424Thr)
c.16193A>C (p.Asn5398Thr)
c.13577A>C (p.Asn4526Thr)
c.16295A>C (p.Asn5432Thr)
c.16292A>C (p.Asn5431Thr)
c.16214A>C (p.Asn5405Thr)
c.16199A>C (p.Asn5400Thr)
c.16115A>C (p.Asn5372Thr)
c.9413A>C (p.Asn3138Thr)
c.9392A>C (p.Asn3131Thr)
n.16290A>C
5g.90823502A>GCA360425594ADGRV1c.16274A>G (p.Asn5425Ser)
c.5228A>G (p.Asn1743Ser)
n.3541A>G
c.265+147293A>G (n.265+147293A>G)
n.128+1320A>G
c.2684A>G (p.Asn895Ser)
c.3257A>G (p.Asn1086Ser)
n.16287A>G
c.16271A>G (p.Asn5424Ser)
c.16193A>G (p.Asn5398Ser)
c.13577A>G (p.Asn4526Ser)
c.16295A>G (p.Asn5432Ser)
c.16292A>G (p.Asn5431Ser)
c.16214A>G (p.Asn5405Ser)
c.16199A>G (p.Asn5400Ser)
c.16115A>G (p.Asn5372Ser)
c.9413A>G (p.Asn3138Ser)
c.9392A>G (p.Asn3131Ser)
n.16290A>G
5g.90823502A>TCA360425593ADGRV1c.16274A>T (p.Asn5425Ile)
c.5228A>T (p.Asn1743Ile)
n.3541A>T
c.265+147293A>T (n.265+147293A>T)
n.128+1320A>T
c.2684A>T (p.Asn895Ile)
c.3257A>T (p.Asn1086Ile)
n.16287A>T
c.16271A>T (p.Asn5424Ile)
c.16193A>T (p.Asn5398Ile)
c.13577A>T (p.Asn4526Ile)
c.16295A>T (p.Asn5432Ile)
c.16292A>T (p.Asn5431Ile)
c.16214A>T (p.Asn5405Ile)
c.16199A>T (p.Asn5400Ile)
c.16115A>T (p.Asn5372Ile)
c.9413A>T (p.Asn3138Ile)
c.9392A>T (p.Asn3131Ile)
n.16290A>T
5g.90823503C>ACA360425595ADGRV1c.16275C>A (p.Asn5425Lys)
c.5229C>A (p.Asn1743Lys)
n.3542C>A
c.265+147294C>A (n.265+147294C>A)
n.128+1321C>A
c.2685C>A (p.Asn895Lys)
c.3258C>A (p.Asn1086Lys)
n.16288C>A
c.16272C>A (p.Asn5424Lys)
c.16194C>A (p.Asn5398Lys)
c.13578C>A (p.Asn4526Lys)
c.16296C>A (p.Asn5432Lys)
c.16293C>A (p.Asn5431Lys)
c.16215C>A (p.Asn5405Lys)
c.16200C>A (p.Asn5400Lys)
c.16116C>A (p.Asn5372Lys)
c.9414C>A (p.Asn3138Lys)
c.9393C>A (p.Asn3131Lys)
n.16291C>A
5g.90823503C=CA1562918277ADGRV1c.16275C= (p.Asn5425=)
c.5229C= (p.Asn1743=)
n.3542C=
c.265+147294C= (n.265+147294C=)
n.128+1321C=
c.2685C= (p.Asn895=)
c.3258C= (p.Asn1086=)
n.16288C=
c.16272C= (p.Asn5424=)
c.16194C= (p.Asn5398=)
c.13578C= (p.Asn4526=)
c.16296C= (p.Asn5432=)
c.16293C= (p.Asn5431=)
c.16215C= (p.Asn5405=)
c.16200C= (p.Asn5400=)
c.16116C= (p.Asn5372=)
c.9414C= (p.Asn3138=)
c.9393C= (p.Asn3131=)
n.16291C=
5g.90823503C>GCA360425596ADGRV1c.16275C>G (p.Asn5425Lys)
c.5229C>G (p.Asn1743Lys)
n.3542C>G
c.265+147294C>G (n.265+147294C>G)
n.128+1321C>G
c.2685C>G (p.Asn895Lys)
c.3258C>G (p.Asn1086Lys)
n.16288C>G
c.16272C>G (p.Asn5424Lys)
c.16194C>G (p.Asn5398Lys)
c.13578C>G (p.Asn4526Lys)
c.16296C>G (p.Asn5432Lys)
c.16293C>G (p.Asn5431Lys)
c.16215C>G (p.Asn5405Lys)
c.16200C>G (p.Asn5400Lys)
c.16116C>G (p.Asn5372Lys)
c.9414C>G (p.Asn3138Lys)
c.9393C>G (p.Asn3131Lys)
n.16291C>G
5g.90823503C>TCA445436565ADGRV1c.16275C>T (p.Asn5425=)
c.5229C>T (p.Asn1743=)
n.3542C>T
c.265+147294C>T (n.265+147294C>T)
n.128+1321C>T
c.2685C>T (p.Asn895=)
c.3258C>T (p.Asn1086=)
n.16288C>T
c.16272C>T (p.Asn5424=)
c.16194C>T (p.Asn5398=)
c.13578C>T (p.Asn4526=)
c.16296C>T (p.Asn5432=)
c.16293C>T (p.Asn5431=)
c.16215C>T (p.Asn5405=)
c.16200C>T (p.Asn5400=)
c.16116C>T (p.Asn5372=)
c.9414C>T (p.Asn3138=)
c.9393C>T (p.Asn3131=)
n.16291C>T
 dbSNP
5g.90823504C>ACA360425597ADGRV1c.16276C>A (p.Leu5426Met)
c.5230C>A (p.Leu1744Met)
n.3543C>A
c.265+147295C>A (n.265+147295C>A)
n.128+1322C>A
c.2686C>A (p.Leu896Met)
c.3259C>A (p.Leu1087Met)
n.16289C>A
c.16273C>A (p.Leu5425Met)
c.16195C>A (p.Leu5399Met)
c.13579C>A (p.Leu4527Met)
c.16297C>A (p.Leu5433Met)
c.16294C>A (p.Leu5432Met)
c.16216C>A (p.Leu5406Met)
c.16201C>A (p.Leu5401Met)
c.16117C>A (p.Leu5373Met)
c.9415C>A (p.Leu3139Met)
c.9394C>A (p.Leu3132Met)
n.16292C>A
5g.90823504C=CA1562918278ADGRV1c.16276C= (p.Leu5426=)
c.5230C= (p.Leu1744=)
n.3543C=
c.265+147295C= (n.265+147295C=)
n.128+1322C=
c.2686C= (p.Leu896=)
c.3259C= (p.Leu1087=)
n.16289C=
c.16273C= (p.Leu5425=)
c.16195C= (p.Leu5399=)
c.13579C= (p.Leu4527=)
c.16297C= (p.Leu5433=)
c.16294C= (p.Leu5432=)
c.16216C= (p.Leu5406=)
c.16201C= (p.Leu5401=)
c.16117C= (p.Leu5373=)
c.9415C= (p.Leu3139=)
c.9394C= (p.Leu3132=)
n.16292C=
5g.90823504C>GCA360425598ADGRV1c.16276C>G (p.Leu5426Val)
c.5230C>G (p.Leu1744Val)
n.3543C>G
c.265+147295C>G (n.265+147295C>G)
n.128+1322C>G
c.2686C>G (p.Leu896Val)
c.3259C>G (p.Leu1087Val)
n.16289C>G
c.16273C>G (p.Leu5425Val)
c.16195C>G (p.Leu5399Val)
c.13579C>G (p.Leu4527Val)
c.16297C>G (p.Leu5433Val)
c.16294C>G (p.Leu5432Val)
c.16216C>G (p.Leu5406Val)
c.16201C>G (p.Leu5401Val)
c.16117C>G (p.Leu5373Val)
c.9415C>G (p.Leu3139Val)
c.9394C>G (p.Leu3132Val)
n.16292C>G
5g.90823504C>TCA122804105ADGRV1c.16276C>T (p.Leu5426=)
c.5230C>T (p.Leu1744=)
n.3543C>T
c.265+147295C>T (n.265+147295C>T)
n.128+1322C>T
c.2686C>T (p.Leu896=)
c.3259C>T (p.Leu1087=)
n.16289C>T
c.16273C>T (p.Leu5425=)
c.16195C>T (p.Leu5399=)
c.13579C>T (p.Leu4527=)
c.16297C>T (p.Leu5433=)
c.16294C>T (p.Leu5432=)
c.16216C>T (p.Leu5406=)
c.16201C>T (p.Leu5401=)
c.16117C>T (p.Leu5373=)
c.9415C>T (p.Leu3139=)
c.9394C>T (p.Leu3132=)
n.16292C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.90823505T>ACA360425599ADGRV1c.16277T>A (p.Leu5426Gln)
c.5231T>A (p.Leu1744Gln)
n.3544T>A
c.265+147296T>A (n.265+147296T>A)
n.128+1323T>A
c.2687T>A (p.Leu896Gln)
c.3260T>A (p.Leu1087Gln)
n.16290T>A
c.16274T>A (p.Leu5425Gln)
c.16196T>A (p.Leu5399Gln)
c.13580T>A (p.Leu4527Gln)
c.16298T>A (p.Leu5433Gln)
c.16295T>A (p.Leu5432Gln)
c.16217T>A (p.Leu5406Gln)
c.16202T>A (p.Leu5401Gln)
c.16118T>A (p.Leu5373Gln)
c.9416T>A (p.Leu3139Gln)
c.9395T>A (p.Leu3132Gln)
n.16293T>A
5g.90823505T>CCA360425600ADGRV1c.16277T>C (p.Leu5426Pro)
c.5231T>C (p.Leu1744Pro)
n.3544T>C
c.265+147296T>C (n.265+147296T>C)
n.128+1323T>C
c.2687T>C (p.Leu896Pro)
c.3260T>C (p.Leu1087Pro)
n.16290T>C
c.16274T>C (p.Leu5425Pro)
c.16196T>C (p.Leu5399Pro)
c.13580T>C (p.Leu4527Pro)
c.16298T>C (p.Leu5433Pro)
c.16295T>C (p.Leu5432Pro)
c.16217T>C (p.Leu5406Pro)
c.16202T>C (p.Leu5401Pro)
c.16118T>C (p.Leu5373Pro)
c.9416T>C (p.Leu3139Pro)
c.9395T>C (p.Leu3132Pro)
n.16293T>C
5g.90823505T>GCA360425601ADGRV1c.16277T>G (p.Leu5426Arg)
c.5231T>G (p.Leu1744Arg)
n.3544T>G
c.265+147296T>G (n.265+147296T>G)
n.128+1323T>G
c.2687T>G (p.Leu896Arg)
c.3260T>G (p.Leu1087Arg)
n.16290T>G
c.16274T>G (p.Leu5425Arg)
c.16196T>G (p.Leu5399Arg)
c.13580T>G (p.Leu4527Arg)
c.16298T>G (p.Leu5433Arg)
c.16295T>G (p.Leu5432Arg)
c.16217T>G (p.Leu5406Arg)
c.16202T>G (p.Leu5401Arg)
c.16118T>G (p.Leu5373Arg)
c.9416T>G (p.Leu3139Arg)
c.9395T>G (p.Leu3132Arg)
n.16293T>G
5g.90823508_90823510delCA2674577101ADGRV1c.16280_16282del (p.Val5427del)
c.5234_5236del (p.Val1745del)
n.3547_3549del
c.265+147299_265+147301del (n.265+147299_265+147301del)
n.128+1326_128+1328del
c.2690_2692del (p.Val897del)
c.3263_3265del (p.Val1088del)
n.16293_16295del
c.16277_16279del (p.Val5426del)
c.16199_16201del (p.Val5400del)
c.13583_13585del (p.Val4528del)
c.16301_16303del (p.Val5434del)
c.16298_16300del (p.Val5433del)
c.16220_16222del (p.Val5407del)
c.16205_16207del (p.Val5402del)
c.16121_16123del (p.Val5374del)
c.9419_9421del (p.Val3140del)
c.9398_9400del (p.Val3133del)
n.16296_16298del
 gnomAD v4
5g.90823506G>ACA445436566ADGRV1c.16278G>A (p.Leu5426=)
c.5232G>A (p.Leu1744=)
n.3545G>A
c.265+147297G>A (n.265+147297G>A)
n.128+1324G>A
c.2688G>A (p.Leu896=)
c.3261G>A (p.Leu1087=)
n.16291G>A
c.16275G>A (p.Leu5425=)
c.16197G>A (p.Leu5399=)
c.13581G>A (p.Leu4527=)
c.16299G>A (p.Leu5433=)
c.16296G>A (p.Leu5432=)
c.16218G>A (p.Leu5406=)
c.16203G>A (p.Leu5401=)
c.16119G>A (p.Leu5373=)
c.9417G>A (p.Leu3139=)
c.9396G>A (p.Leu3132=)
n.16294G>A
5g.90823506G>CCA445436567ADGRV1c.16278G>C (p.Leu5426=)
c.5232G>C (p.Leu1744=)
n.3545G>C
c.265+147297G>C (n.265+147297G>C)
n.128+1324G>C
c.2688G>C (p.Leu896=)
c.3261G>C (p.Leu1087=)
n.16291G>C
c.16275G>C (p.Leu5425=)
c.16197G>C (p.Leu5399=)
c.13581G>C (p.Leu4527=)
c.16299G>C (p.Leu5433=)
c.16296G>C (p.Leu5432=)
c.16218G>C (p.Leu5406=)
c.16203G>C (p.Leu5401=)
c.16119G>C (p.Leu5373=)
c.9417G>C (p.Leu3139=)
c.9396G>C (p.Leu3132=)
n.16294G>C
 dbSNP gnomAD v4
5g.90823506G=CA1562918279ADGRV1c.16278G= (p.Leu5426=)
c.5232G= (p.Leu1744=)
n.3545G=
c.265+147297G= (n.265+147297G=)
n.128+1324G=
c.2688G= (p.Leu896=)
c.3261G= (p.Leu1087=)
n.16291G=
c.16275G= (p.Leu5425=)
c.16197G= (p.Leu5399=)
c.13581G= (p.Leu4527=)
c.16299G= (p.Leu5433=)
c.16296G= (p.Leu5432=)
c.16218G= (p.Leu5406=)
c.16203G= (p.Leu5401=)
c.16119G= (p.Leu5373=)
c.9417G= (p.Leu3139=)
c.9396G= (p.Leu3132=)
n.16294G=
5g.90823506G>TCA445436568ADGRV1c.16278G>T (p.Leu5426=)
c.5232G>T (p.Leu1744=)
n.3545G>T
c.265+147297G>T (n.265+147297G>T)
n.128+1324G>T
c.2688G>T (p.Leu896=)
c.3261G>T (p.Leu1087=)
n.16291G>T
c.16275G>T (p.Leu5425=)
c.16197G>T (p.Leu5399=)
c.13581G>T (p.Leu4527=)
c.16299G>T (p.Leu5433=)
c.16296G>T (p.Leu5432=)
c.16218G>T (p.Leu5406=)
c.16203G>T (p.Leu5401=)
c.16119G>T (p.Leu5373=)
c.9417G>T (p.Leu3139=)
c.9396G>T (p.Leu3132=)
n.16294G>T
5g.90823507G>ACA138057ADGRV1c.16279G>A (p.Val5427Met)
c.5233G>A (p.Val1745Met)
n.3546G>A
c.265+147298G>A (n.265+147298G>A)
n.128+1325G>A
c.2689G>A (p.Val897Met)
c.3262G>A (p.Val1088Met)
n.16292G>A
c.16276G>A (p.Val5426Met)
c.16198G>A (p.Val5400Met)
c.13582G>A (p.Val4528Met)
c.16300G>A (p.Val5434Met)
c.16297G>A (p.Val5433Met)
c.16219G>A (p.Val5407Met)
c.16204G>A (p.Val5402Met)
c.16120G>A (p.Val5374Met)
c.9418G>A (p.Val3140Met)
c.9397G>A (p.Val3133Met)
n.16295G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90823507G>CCA360425602ADGRV1c.16279G>C (p.Val5427Leu)
c.5233G>C (p.Val1745Leu)
n.3546G>C
c.265+147298G>C (n.265+147298G>C)
n.128+1325G>C
c.2689G>C (p.Val897Leu)
c.3262G>C (p.Val1088Leu)
n.16292G>C
c.16276G>C (p.Val5426Leu)
c.16198G>C (p.Val5400Leu)
c.13582G>C (p.Val4528Leu)
c.16300G>C (p.Val5434Leu)
c.16297G>C (p.Val5433Leu)
c.16219G>C (p.Val5407Leu)
c.16204G>C (p.Val5402Leu)
c.16120G>C (p.Val5374Leu)
c.9418G>C (p.Val3140Leu)
c.9397G>C (p.Val3133Leu)
n.16295G>C
 dbSNP gnomAD v4
5g.90823507G=CA1562918281ADGRV1c.16279G= (p.Val5427=)
c.5233G= (p.Val1745=)
n.3546G=
c.265+147298G= (n.265+147298G=)
n.128+1325G=
c.2689G= (p.Val897=)
c.3262G= (p.Val1088=)
n.16292G=
c.16276G= (p.Val5426=)
c.16198G= (p.Val5400=)
c.13582G= (p.Val4528=)
c.16300G= (p.Val5434=)
c.16297G= (p.Val5433=)
c.16219G= (p.Val5407=)
c.16204G= (p.Val5402=)
c.16120G= (p.Val5374=)
c.9418G= (p.Val3140=)
c.9397G= (p.Val3133=)
n.16295G=
5g.90823507G>TCA360425603ADGRV1c.16279G>T (p.Val5427Leu)
c.5233G>T (p.Val1745Leu)
n.3546G>T
c.265+147298G>T (n.265+147298G>T)
n.128+1325G>T
c.2689G>T (p.Val897Leu)
c.3262G>T (p.Val1088Leu)
n.16292G>T
c.16276G>T (p.Val5426Leu)
c.16198G>T (p.Val5400Leu)
c.13582G>T (p.Val4528Leu)
c.16300G>T (p.Val5434Leu)
c.16297G>T (p.Val5433Leu)
c.16219G>T (p.Val5407Leu)
c.16204G>T (p.Val5402Leu)
c.16120G>T (p.Val5374Leu)
c.9418G>T (p.Val3140Leu)
c.9397G>T (p.Val3133Leu)
n.16295G>T
 dbSNP gnomAD v4
5g.90823507_90823508delinsAACA916082738ADGRV1c.16279_16280delinsAA (p.Val5427Lys)
c.5233_5234delinsAA (p.Val1745Lys)
n.3546_3547delinsAA
c.265+147298_265+147299delinsAA (n.265+147298_265+147299delinsAA)
n.128+1325_128+1326delinsAA
c.2689_2690delinsAA (p.Val897Lys)
c.3262_3263delinsAA (p.Val1088Lys)
n.16292_16293delinsAA
c.16276_16277delinsAA (p.Val5426Lys)
c.16198_16199delinsAA (p.Val5400Lys)
c.13582_13583delinsAA (p.Val4528Lys)
c.16300_16301delinsAA (p.Val5434Lys)
c.16297_16298delinsAA (p.Val5433Lys)
c.16219_16220delinsAA (p.Val5407Lys)
c.16204_16205delinsAA (p.Val5402Lys)
c.16120_16121delinsAA (p.Val5374Lys)
c.9418_9419delinsAA (p.Val3140Lys)
c.9397_9398delinsAA (p.Val3133Lys)
n.16295_16296delinsAA
 ClinVar dbSNP
5g.90823507_90823508delinsGTCA1562918280ADGRV1c.16279_16280delinsGT (p.Val5427=)
c.5233_5234delinsGT (p.Val1745=)
n.3546_3547delinsGT
c.265+147298_265+147299delinsGT (n.265+147298_265+147299delinsGT)
n.128+1325_128+1326delinsGT
c.2689_2690delinsGT (p.Val897=)
c.3262_3263delinsGT (p.Val1088=)
n.16292_16293delinsGT
c.16276_16277delinsGT (p.Val5426=)
c.16198_16199delinsGT (p.Val5400=)
c.13582_13583delinsGT (p.Val4528=)
c.16300_16301delinsGT (p.Val5434=)
c.16297_16298delinsGT (p.Val5433=)
c.16219_16220delinsGT (p.Val5407=)
c.16204_16205delinsGT (p.Val5402=)
c.16120_16121delinsGT (p.Val5374=)
c.9418_9419delinsGT (p.Val3140=)
c.9397_9398delinsGT (p.Val3133=)
n.16295_16296delinsGT
5g.90823508T>ACA3342105ADGRV1c.16280T>A (p.Val5427Glu)
c.5234T>A (p.Val1745Glu)
n.3547T>A
c.265+147299T>A (n.265+147299T>A)
n.128+1326T>A
c.2690T>A (p.Val897Glu)
c.3263T>A (p.Val1088Glu)
n.16293T>A
c.16277T>A (p.Val5426Glu)
c.16199T>A (p.Val5400Glu)
c.13583T>A (p.Val4528Glu)
c.16301T>A (p.Val5434Glu)
c.16298T>A (p.Val5433Glu)
c.16220T>A (p.Val5407Glu)
c.16205T>A (p.Val5402Glu)
c.16121T>A (p.Val5374Glu)
c.9419T>A (p.Val3140Glu)
c.9398T>A (p.Val3133Glu)
n.16296T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.90823508T>CCA360425604ADGRV1c.16280T>C (p.Val5427Ala)
c.5234T>C (p.Val1745Ala)
n.3547T>C
c.265+147299T>C (n.265+147299T>C)
n.128+1326T>C
c.2690T>C (p.Val897Ala)
c.3263T>C (p.Val1088Ala)
n.16293T>C
c.16277T>C (p.Val5426Ala)
c.16199T>C (p.Val5400Ala)
c.13583T>C (p.Val4528Ala)
c.16301T>C (p.Val5434Ala)
c.16298T>C (p.Val5433Ala)
c.16220T>C (p.Val5407Ala)
c.16205T>C (p.Val5402Ala)
c.16121T>C (p.Val5374Ala)
c.9419T>C (p.Val3140Ala)
c.9398T>C (p.Val3133Ala)
n.16296T>C
 dbSNP gnomAD v3 gnomAD v4
5g.90823508T>GCA360425605ADGRV1c.16280T>G (p.Val5427Gly)
c.5234T>G (p.Val1745Gly)
n.3547T>G
c.265+147299T>G (n.265+147299T>G)
n.128+1326T>G
c.2690T>G (p.Val897Gly)
c.3263T>G (p.Val1088Gly)
n.16293T>G
c.16277T>G (p.Val5426Gly)
c.16199T>G (p.Val5400Gly)
c.13583T>G (p.Val4528Gly)
c.16301T>G (p.Val5434Gly)
c.16298T>G (p.Val5433Gly)
c.16220T>G (p.Val5407Gly)
c.16205T>G (p.Val5402Gly)
c.16121T>G (p.Val5374Gly)
c.9419T>G (p.Val3140Gly)
c.9398T>G (p.Val3133Gly)
n.16296T>G
5g.90823508T=CA1562918282ADGRV1c.16280T= (p.Val5427=)
c.5234T= (p.Val1745=)
n.3547T=
c.265+147299T= (n.265+147299T=)
n.128+1326T=
c.2690T= (p.Val897=)
c.3263T= (p.Val1088=)
n.16293T=
c.16277T= (p.Val5426=)
c.16199T= (p.Val5400=)
c.13583T= (p.Val4528=)
c.16301T= (p.Val5434=)
c.16298T= (p.Val5433=)
c.16220T= (p.Val5407=)
c.16205T= (p.Val5402=)
c.16121T= (p.Val5374=)
c.9419T= (p.Val3140=)
c.9398T= (p.Val3133=)
n.16296T=
5g.90823508_90823509insTCCTCCATCAGGTTCA2674577102ADGRV1c.16280_16281insTCCTCCATCAGGTT (p.Glu5428ProfsTer?)
c.5234_5235insTCCTCCATCAGGTT (p.Glu1746ProfsTer?)
n.3547_3548insTCCTCCATCAGGTT
c.265+147299_265+147300insTCCTCCATCAGGTT (n.265+147299_265+147300insTCCTCCATCAGGTT)
n.128+1326_128+1327insTCCTCCATCAGGTT
c.2690_2691insTCCTCCATCAGGTT (p.Glu898ProfsTer?)
c.3263_3264insTCCTCCATCAGGTT (p.Glu1089ProfsTer?)
n.16293_16294insTCCTCCATCAGGTT
c.16277_16278insTCCTCCATCAGGTT (p.Glu5427ProfsTer?)
c.16199_16200insTCCTCCATCAGGTT (p.Glu5401ProfsTer?)
c.13583_13584insTCCTCCATCAGGTT (p.Glu4529ProfsTer?)
c.16301_16302insTCCTCCATCAGGTT (p.Glu5435ProfsTer?)
c.16298_16299insTCCTCCATCAGGTT (p.Glu5434ProfsTer?)
c.16220_16221insTCCTCCATCAGGTT (p.Glu5408ProfsTer?)
c.16205_16206insTCCTCCATCAGGTT (p.Glu5403ProfsTer?)
c.16121_16122insTCCTCCATCAGGTT (p.Glu5375ProfsTer?)
c.9419_9420insTCCTCCATCAGGTT (p.Glu3141ProfsTer?)
c.9398_9399insTCCTCCATCAGGTT (p.Glu3134ProfsTer?)
n.16296_16297insTCCTCCATCAGGTT
 gnomAD v4
5g.90823509G>ACA445436570ADGRV1c.16281G>A (p.Val5427=)
c.5235G>A (p.Val1745=)
n.3548G>A
c.265+147300G>A (n.265+147300G>A)
n.128+1327G>A
c.2691G>A (p.Val897=)
c.3264G>A (p.Val1088=)
n.16294G>A
c.16278G>A (p.Val5426=)
c.16200G>A (p.Val5400=)
c.13584G>A (p.Val4528=)
c.16302G>A (p.Val5434=)
c.16299G>A (p.Val5433=)
c.16221G>A (p.Val5407=)
c.16206G>A (p.Val5402=)
c.16122G>A (p.Val5374=)
c.9420G>A (p.Val3140=)
c.9399G>A (p.Val3133=)
n.16297G>A
5g.90823509G>CCA445436569ADGRV1c.16281G>C (p.Val5427=)
c.5235G>C (p.Val1745=)
n.3548G>C
c.265+147300G>C (n.265+147300G>C)
n.128+1327G>C
c.2691G>C (p.Val897=)
c.3264G>C (p.Val1088=)
n.16294G>C
c.16278G>C (p.Val5426=)
c.16200G>C (p.Val5400=)
c.13584G>C (p.Val4528=)
c.16302G>C (p.Val5434=)
c.16299G>C (p.Val5433=)
c.16221G>C (p.Val5407=)
c.16206G>C (p.Val5402=)
c.16122G>C (p.Val5374=)
c.9420G>C (p.Val3140=)
c.9399G>C (p.Val3133=)
n.16297G>C
5g.90823509G>TCA445436571ADGRV1c.16281G>T (p.Val5427=)
c.5235G>T (p.Val1745=)
n.3548G>T
c.265+147300G>T (n.265+147300G>T)
n.128+1327G>T
c.2691G>T (p.Val897=)
c.3264G>T (p.Val1088=)
n.16294G>T
c.16278G>T (p.Val5426=)
c.16200G>T (p.Val5400=)
c.13584G>T (p.Val4528=)
c.16302G>T (p.Val5434=)
c.16299G>T (p.Val5433=)
c.16221G>T (p.Val5407=)
c.16206G>T (p.Val5402=)
c.16122G>T (p.Val5374=)
c.9420G>T (p.Val3140=)
c.9399G>T (p.Val3133=)
n.16297G>T
 gnomAD v4
5g.90823510G>ACA360425606ADGRV1c.16282G>A (p.Glu5428Lys)
c.5236G>A (p.Glu1746Lys)
n.3549G>A
c.265+147301G>A (n.265+147301G>A)
n.128+1328G>A
c.2692G>A (p.Glu898Lys)
c.3265G>A (p.Glu1089Lys)
n.16295G>A
c.16279G>A (p.Glu5427Lys)
c.16201G>A (p.Glu5401Lys)
c.13585G>A (p.Glu4529Lys)
c.16303G>A (p.Glu5435Lys)
c.16300G>A (p.Glu5434Lys)
c.16222G>A (p.Glu5408Lys)
c.16207G>A (p.Glu5403Lys)
c.16123G>A (p.Glu5375Lys)
c.9421G>A (p.Glu3141Lys)
c.9400G>A (p.Glu3134Lys)
n.16298G>A
5g.90823510G>CCA3342106ADGRV1c.16282G>C (p.Glu5428Gln)
c.5236G>C (p.Glu1746Gln)
n.3549G>C
c.265+147301G>C (n.265+147301G>C)
n.128+1328G>C
c.2692G>C (p.Glu898Gln)
c.3265G>C (p.Glu1089Gln)
n.16295G>C
c.16279G>C (p.Glu5427Gln)
c.16201G>C (p.Glu5401Gln)
c.13585G>C (p.Glu4529Gln)
c.16303G>C (p.Glu5435Gln)
c.16300G>C (p.Glu5434Gln)
c.16222G>C (p.Glu5408Gln)
c.16207G>C (p.Glu5403Gln)
c.16123G>C (p.Glu5375Gln)
c.9421G>C (p.Glu3141Gln)
c.9400G>C (p.Glu3134Gln)
n.16298G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90823510G=CA1562918283ADGRV1c.16282G= (p.Glu5428=)
c.5236G= (p.Glu1746=)
n.3549G=
c.265+147301G= (n.265+147301G=)
n.128+1328G=
c.2692G= (p.Glu898=)
c.3265G= (p.Glu1089=)
n.16295G=
c.16279G= (p.Glu5427=)
c.16201G= (p.Glu5401=)
c.13585G= (p.Glu4529=)
c.16303G= (p.Glu5435=)
c.16300G= (p.Glu5434=)
c.16222G= (p.Glu5408=)
c.16207G= (p.Glu5403=)
c.16123G= (p.Glu5375=)
c.9421G= (p.Glu3141=)
c.9400G= (p.Glu3134=)
n.16298G=
5g.90823510G>TCA360425607ADGRV1c.16282G>T (p.Glu5428Ter)
c.5236G>T (p.Glu1746Ter)
n.3549G>T
c.265+147301G>T (n.265+147301G>T)
n.128+1328G>T
c.2692G>T (p.Glu898Ter)
c.3265G>T (p.Glu1089Ter)
n.16295G>T
c.16279G>T (p.Glu5427Ter)
c.16201G>T (p.Glu5401Ter)
c.13585G>T (p.Glu4529Ter)
c.16303G>T (p.Glu5435Ter)
c.16300G>T (p.Glu5434Ter)
c.16222G>T (p.Glu5408Ter)
c.16207G>T (p.Glu5403Ter)
c.16123G>T (p.Glu5375Ter)
c.9421G>T (p.Glu3141Ter)
c.9400G>T (p.Glu3134Ter)
n.16298G>T
5g.90823511A=CA1562918284ADGRV1c.16283A= (p.Glu5428=)
c.5237A= (p.Glu1746=)
n.3550A=
c.265+147302A= (n.265+147302A=)
n.128+1329A=
c.2693A= (p.Glu898=)
c.3266A= (p.Glu1089=)
n.16296A=
c.16280A= (p.Glu5427=)
c.16202A= (p.Glu5401=)
c.13586A= (p.Glu4529=)
c.16304A= (p.Glu5435=)
c.16301A= (p.Glu5434=)
c.16223A= (p.Glu5408=)
c.16208A= (p.Glu5403=)
c.16124A= (p.Glu5375=)
c.9422A= (p.Glu3141=)
c.9401A= (p.Glu3134=)
n.16299A=
5g.90823511A>CCA360425608ADGRV1c.16283A>C (p.Glu5428Ala)
c.5237A>C (p.Glu1746Ala)
n.3550A>C
c.265+147302A>C (n.265+147302A>C)
n.128+1329A>C
c.2693A>C (p.Glu898Ala)
c.3266A>C (p.Glu1089Ala)
n.16296A>C
c.16280A>C (p.Glu5427Ala)
c.16202A>C (p.Glu5401Ala)
c.13586A>C (p.Glu4529Ala)
c.16304A>C (p.Glu5435Ala)
c.16301A>C (p.Glu5434Ala)
c.16223A>C (p.Glu5408Ala)
c.16208A>C (p.Glu5403Ala)
c.16124A>C (p.Glu5375Ala)
c.9422A>C (p.Glu3141Ala)
c.9401A>C (p.Glu3134Ala)
n.16299A>C
5g.90823511A>GCA360425609ADGRV1c.16283A>G (p.Glu5428Gly)
c.5237A>G (p.Glu1746Gly)
n.3550A>G
c.265+147302A>G (n.265+147302A>G)
n.128+1329A>G
c.2693A>G (p.Glu898Gly)
c.3266A>G (p.Glu1089Gly)
n.16296A>G
c.16280A>G (p.Glu5427Gly)
c.16202A>G (p.Glu5401Gly)
c.13586A>G (p.Glu4529Gly)
c.16304A>G (p.Glu5435Gly)
c.16301A>G (p.Glu5434Gly)
c.16223A>G (p.Glu5408Gly)
c.16208A>G (p.Glu5403Gly)
c.16124A>G (p.Glu5375Gly)
c.9422A>G (p.Glu3141Gly)
c.9401A>G (p.Glu3134Gly)
n.16299A>G
5g.90823511A>TCA360425610ADGRV1c.16283A>T (p.Glu5428Val)
c.5237A>T (p.Glu1746Val)
n.3550A>T
c.265+147302A>T (n.265+147302A>T)
n.128+1329A>T
c.2693A>T (p.Glu898Val)
c.3266A>T (p.Glu1089Val)
n.16296A>T
c.16280A>T (p.Glu5427Val)
c.16202A>T (p.Glu5401Val)
c.13586A>T (p.Glu4529Val)
c.16304A>T (p.Glu5435Val)
c.16301A>T (p.Glu5434Val)
c.16223A>T (p.Glu5408Val)
c.16208A>T (p.Glu5403Val)
c.16124A>T (p.Glu5375Val)
c.9422A>T (p.Glu3141Val)
c.9401A>T (p.Glu3134Val)
n.16299A>T
 ClinVar dbSNP
5g.90823512G>ACA445436572ADGRV1c.16284G>A (p.Glu5428=)
c.5238G>A (p.Glu1746=)
n.3551G>A
c.265+147303G>A (n.265+147303G>A)
n.128+1330G>A
c.2694G>A (p.Glu898=)
c.3267G>A (p.Glu1089=)
n.16297G>A
c.16281G>A (p.Glu5427=)
c.16203G>A (p.Glu5401=)
c.13587G>A (p.Glu4529=)
c.16305G>A (p.Glu5435=)
c.16302G>A (p.Glu5434=)
c.16224G>A (p.Glu5408=)
c.16209G>A (p.Glu5403=)
c.16125G>A (p.Glu5375=)
c.9423G>A (p.Glu3141=)
c.9402G>A (p.Glu3134=)
n.16300G>A
 gnomAD v4
5g.90823512G>CCA360425611ADGRV1c.16284G>C (p.Glu5428Asp)
c.5238G>C (p.Glu1746Asp)
n.3551G>C
c.265+147303G>C (n.265+147303G>C)
n.128+1330G>C
c.2694G>C (p.Glu898Asp)
c.3267G>C (p.Glu1089Asp)
n.16297G>C
c.16281G>C (p.Glu5427Asp)
c.16203G>C (p.Glu5401Asp)
c.13587G>C (p.Glu4529Asp)
c.16305G>C (p.Glu5435Asp)
c.16302G>C (p.Glu5434Asp)
c.16224G>C (p.Glu5408Asp)
c.16209G>C (p.Glu5403Asp)
c.16125G>C (p.Glu5375Asp)
c.9423G>C (p.Glu3141Asp)
c.9402G>C (p.Glu3134Asp)
n.16300G>C
5g.90823512G>TCA360425612ADGRV1c.16284G>T (p.Glu5428Asp)
c.5238G>T (p.Glu1746Asp)
n.3551G>T
c.265+147303G>T (n.265+147303G>T)
n.128+1330G>T
c.2694G>T (p.Glu898Asp)
c.3267G>T (p.Glu1089Asp)
n.16297G>T
c.16281G>T (p.Glu5427Asp)
c.16203G>T (p.Glu5401Asp)
c.13587G>T (p.Glu4529Asp)
c.16305G>T (p.Glu5435Asp)
c.16302G>T (p.Glu5434Asp)
c.16224G>T (p.Glu5408Asp)
c.16209G>T (p.Glu5403Asp)
c.16125G>T (p.Glu5375Asp)
c.9423G>T (p.Glu3141Asp)
c.9402G>T (p.Glu3134Asp)
n.16300G>T
5g.90823513G>ACA176242ADGRV1c.16285G>A (p.Glu5429Lys)
c.5239G>A (p.Glu1747Lys)
n.3552G>A
c.265+147304G>A (n.265+147304G>A)
n.128+1331G>A
c.2695G>A (p.Glu899Lys)
c.3268G>A (p.Glu1090Lys)
n.16298G>A
c.16282G>A (p.Glu5428Lys)
c.16204G>A (p.Glu5402Lys)
c.13588G>A (p.Glu4530Lys)
c.16306G>A (p.Glu5436Lys)
c.16303G>A (p.Glu5435Lys)
c.16225G>A (p.Glu5409Lys)
c.16210G>A (p.Glu5404Lys)
c.16126G>A (p.Glu5376Lys)
c.9424G>A (p.Glu3142Lys)
c.9403G>A (p.Glu3135Lys)
n.16301G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90823513G>CCA3342107ADGRV1c.16285G>C (p.Glu5429Gln)
c.5239G>C (p.Glu1747Gln)
n.3552G>C
c.265+147304G>C (n.265+147304G>C)
n.128+1331G>C
c.2695G>C (p.Glu899Gln)
c.3268G>C (p.Glu1090Gln)
n.16298G>C
c.16282G>C (p.Glu5428Gln)
c.16204G>C (p.Glu5402Gln)
c.13588G>C (p.Glu4530Gln)
c.16306G>C (p.Glu5436Gln)
c.16303G>C (p.Glu5435Gln)
c.16225G>C (p.Glu5409Gln)
c.16210G>C (p.Glu5404Gln)
c.16126G>C (p.Glu5376Gln)
c.9424G>C (p.Glu3142Gln)
c.9403G>C (p.Glu3135Gln)
n.16301G>C
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
5g.90823513G=CA1562918285ADGRV1c.16285G= (p.Glu5429=)
c.5239G= (p.Glu1747=)
n.3552G=
c.265+147304G= (n.265+147304G=)
n.128+1331G=
c.2695G= (p.Glu899=)
c.3268G= (p.Glu1090=)
n.16298G=
c.16282G= (p.Glu5428=)
c.16204G= (p.Glu5402=)
c.13588G= (p.Glu4530=)
c.16306G= (p.Glu5436=)
c.16303G= (p.Glu5435=)
c.16225G= (p.Glu5409=)
c.16210G= (p.Glu5404=)
c.16126G= (p.Glu5376=)
c.9424G= (p.Glu3142=)
c.9403G= (p.Glu3135=)
n.16301G=
5g.90823513G>TCA360425613ADGRV1c.16285G>T (p.Glu5429Ter)
c.5239G>T (p.Glu1747Ter)
n.3552G>T
c.265+147304G>T (n.265+147304G>T)
n.128+1331G>T
c.2695G>T (p.Glu899Ter)
c.3268G>T (p.Glu1090Ter)
n.16298G>T
c.16282G>T (p.Glu5428Ter)
c.16204G>T (p.Glu5402Ter)
c.13588G>T (p.Glu4530Ter)
c.16306G>T (p.Glu5436Ter)
c.16303G>T (p.Glu5435Ter)
c.16225G>T (p.Glu5409Ter)
c.16210G>T (p.Glu5404Ter)
c.16126G>T (p.Glu5376Ter)
c.9424G>T (p.Glu3142Ter)
c.9403G>T (p.Glu3135Ter)
n.16301G>T
5g.90823514A>CCA360425614ADGRV1c.16286A>C (p.Glu5429Ala)
c.5240A>C (p.Glu1747Ala)
n.3553A>C
c.265+147305A>C (n.265+147305A>C)
n.128+1332A>C
c.2696A>C (p.Glu899Ala)
c.3269A>C (p.Glu1090Ala)
n.16299A>C
c.16283A>C (p.Glu5428Ala)
c.16205A>C (p.Glu5402Ala)
c.13589A>C (p.Glu4530Ala)
c.16307A>C (p.Glu5436Ala)
c.16304A>C (p.Glu5435Ala)
c.16226A>C (p.Glu5409Ala)
c.16211A>C (p.Glu5404Ala)
c.16127A>C (p.Glu5376Ala)
c.9425A>C (p.Glu3142Ala)
c.9404A>C (p.Glu3135Ala)
n.16302A>C
5g.90823514A>GCA360425615ADGRV1c.16286A>G (p.Glu5429Gly)
c.5240A>G (p.Glu1747Gly)
n.3553A>G
c.265+147305A>G (n.265+147305A>G)
n.128+1332A>G
c.2696A>G (p.Glu899Gly)
c.3269A>G (p.Glu1090Gly)
n.16299A>G
c.16283A>G (p.Glu5428Gly)
c.16205A>G (p.Glu5402Gly)
c.13589A>G (p.Glu4530Gly)
c.16307A>G (p.Glu5436Gly)
c.16304A>G (p.Glu5435Gly)
c.16226A>G (p.Glu5409Gly)
c.16211A>G (p.Glu5404Gly)
c.16127A>G (p.Glu5376Gly)
c.9425A>G (p.Glu3142Gly)
c.9404A>G (p.Glu3135Gly)
n.16302A>G
5g.90823514A>TCA360425616ADGRV1c.16286A>T (p.Glu5429Val)
c.5240A>T (p.Glu1747Val)
n.3553A>T
c.265+147305A>T (n.265+147305A>T)
n.128+1332A>T
c.2696A>T (p.Glu899Val)
c.3269A>T (p.Glu1090Val)
n.16299A>T
c.16283A>T (p.Glu5428Val)
c.16205A>T (p.Glu5402Val)
c.13589A>T (p.Glu4530Val)
c.16307A>T (p.Glu5436Val)
c.16304A>T (p.Glu5435Val)
c.16226A>T (p.Glu5409Val)
c.16211A>T (p.Glu5404Val)
c.16127A>T (p.Glu5376Val)
c.9425A>T (p.Glu3142Val)
c.9404A>T (p.Glu3135Val)
n.16302A>T
5g.90823515A>CCA360425618ADGRV1c.16287A>C (p.Glu5429Asp)
c.5241A>C (p.Glu1747Asp)
n.3554A>C
c.265+147306A>C (n.265+147306A>C)
n.128+1333A>C
c.2697A>C (p.Glu899Asp)
c.3270A>C (p.Glu1090Asp)
n.16300A>C
c.16284A>C (p.Glu5428Asp)
c.16206A>C (p.Glu5402Asp)
c.13590A>C (p.Glu4530Asp)
c.16308A>C (p.Glu5436Asp)
c.16305A>C (p.Glu5435Asp)
c.16227A>C (p.Glu5409Asp)
c.16212A>C (p.Glu5404Asp)
c.16128A>C (p.Glu5376Asp)
c.9426A>C (p.Glu3142Asp)
c.9405A>C (p.Glu3135Asp)
n.16303A>C
5g.90823515A>GCA445436573ADGRV1c.16287A>G (p.Glu5429=)
c.5241A>G (p.Glu1747=)
n.3554A>G
c.265+147306A>G (n.265+147306A>G)
n.128+1333A>G
c.2697A>G (p.Glu899=)
c.3270A>G (p.Glu1090=)
n.16300A>G
c.16284A>G (p.Glu5428=)
c.16206A>G (p.Glu5402=)
c.13590A>G (p.Glu4530=)
c.16308A>G (p.Glu5436=)
c.16305A>G (p.Glu5435=)
c.16227A>G (p.Glu5409=)
c.16212A>G (p.Glu5404=)
c.16128A>G (p.Glu5376=)
c.9426A>G (p.Glu3142=)
c.9405A>G (p.Glu3135=)
n.16303A>G
 gnomAD v4
5g.90823515A>TCA360425617ADGRV1c.16287A>T (p.Glu5429Asp)
c.5241A>T (p.Glu1747Asp)
n.3554A>T
c.265+147306A>T (n.265+147306A>T)
n.128+1333A>T
c.2697A>T (p.Glu899Asp)
c.3270A>T (p.Glu1090Asp)
n.16300A>T
c.16284A>T (p.Glu5428Asp)
c.16206A>T (p.Glu5402Asp)
c.13590A>T (p.Glu4530Asp)
c.16308A>T (p.Glu5436Asp)
c.16305A>T (p.Glu5435Asp)
c.16227A>T (p.Glu5409Asp)
c.16212A>T (p.Glu5404Asp)
c.16128A>T (p.Glu5376Asp)
c.9426A>T (p.Glu3142Asp)
c.9405A>T (p.Glu3135Asp)
n.16303A>T
5g.90823516C>ACA360425619ADGRV1c.16288C>A (p.Leu5430Ile)
c.5242C>A (p.Leu1748Ile)
n.3555C>A
c.265+147307C>A (n.265+147307C>A)
n.128+1334C>A
c.2698C>A (p.Leu900Ile)
c.3271C>A (p.Leu1091Ile)
n.16301C>A
c.16285C>A (p.Leu5429Ile)
c.16207C>A (p.Leu5403Ile)
c.13591C>A (p.Leu4531Ile)
c.16309C>A (p.Leu5437Ile)
c.16306C>A (p.Leu5436Ile)
c.16228C>A (p.Leu5410Ile)
c.16213C>A (p.Leu5405Ile)
c.16129C>A (p.Leu5377Ile)
c.9427C>A (p.Leu3143Ile)
c.9406C>A (p.Leu3136Ile)
n.16304C>A
5g.90823516C=CA1562918286ADGRV1c.16288C= (p.Leu5430=)
c.5242C= (p.Leu1748=)
n.3555C=
c.265+147307C= (n.265+147307C=)
n.128+1334C=
c.2698C= (p.Leu900=)
c.3271C= (p.Leu1091=)
n.16301C=
c.16285C= (p.Leu5429=)
c.16207C= (p.Leu5403=)
c.13591C= (p.Leu4531=)
c.16309C= (p.Leu5437=)
c.16306C= (p.Leu5436=)
c.16228C= (p.Leu5410=)
c.16213C= (p.Leu5405=)
c.16129C= (p.Leu5377=)
c.9427C= (p.Leu3143=)
c.9406C= (p.Leu3136=)
n.16304C=
5g.90823516C>GCA360425620ADGRV1c.16288C>G (p.Leu5430Val)
c.5242C>G (p.Leu1748Val)
n.3555C>G
c.265+147307C>G (n.265+147307C>G)
n.128+1334C>G
c.2698C>G (p.Leu900Val)
c.3271C>G (p.Leu1091Val)
n.16301C>G
c.16285C>G (p.Leu5429Val)
c.16207C>G (p.Leu5403Val)
c.13591C>G (p.Leu4531Val)
c.16309C>G (p.Leu5437Val)
c.16306C>G (p.Leu5436Val)
c.16228C>G (p.Leu5410Val)
c.16213C>G (p.Leu5405Val)
c.16129C>G (p.Leu5377Val)
c.9427C>G (p.Leu3143Val)
c.9406C>G (p.Leu3136Val)
n.16304C>G
 ClinVar
5g.90823516C>TCA3342108ADGRV1c.16288C>T (p.Leu5430Phe)
c.5242C>T (p.Leu1748Phe)
n.3555C>T
c.265+147307C>T (n.265+147307C>T)
n.128+1334C>T
c.2698C>T (p.Leu900Phe)
c.3271C>T (p.Leu1091Phe)
n.16301C>T
c.16285C>T (p.Leu5429Phe)
c.16207C>T (p.Leu5403Phe)
c.13591C>T (p.Leu4531Phe)
c.16309C>T (p.Leu5437Phe)
c.16306C>T (p.Leu5436Phe)
c.16228C>T (p.Leu5410Phe)
c.16213C>T (p.Leu5405Phe)
c.16129C>T (p.Leu5377Phe)
c.9427C>T (p.Leu3143Phe)
c.9406C>T (p.Leu3136Phe)
n.16304C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90823517T>ACA360425621ADGRV1c.16289T>A (p.Leu5430His)
c.5243T>A (p.Leu1748His)
n.3556T>A
c.265+147308T>A (n.265+147308T>A)
n.128+1335T>A
c.2699T>A (p.Leu900His)
c.3272T>A (p.Leu1091His)
n.16302T>A
c.16286T>A (p.Leu5429His)
c.16208T>A (p.Leu5403His)
c.13592T>A (p.Leu4531His)
c.16310T>A (p.Leu5437His)
c.16307T>A (p.Leu5436His)
c.16229T>A (p.Leu5410His)
c.16214T>A (p.Leu5405His)
c.16130T>A (p.Leu5377His)
c.9428T>A (p.Leu3143His)
c.9407T>A (p.Leu3136His)
n.16305T>A
5g.90823517T>CCA360425622ADGRV1c.16289T>C (p.Leu5430Pro)
c.5243T>C (p.Leu1748Pro)
n.3556T>C
c.265+147308T>C (n.265+147308T>C)
n.128+1335T>C
c.2699T>C (p.Leu900Pro)
c.3272T>C (p.Leu1091Pro)
n.16302T>C
c.16286T>C (p.Leu5429Pro)
c.16208T>C (p.Leu5403Pro)
c.13592T>C (p.Leu4531Pro)
c.16310T>C (p.Leu5437Pro)
c.16307T>C (p.Leu5436Pro)
c.16229T>C (p.Leu5410Pro)
c.16214T>C (p.Leu5405Pro)
c.16130T>C (p.Leu5377Pro)
c.9428T>C (p.Leu3143Pro)
c.9407T>C (p.Leu3136Pro)
n.16305T>C
5g.90823517T>GCA360425623ADGRV1c.16289T>G (p.Leu5430Arg)
c.5243T>G (p.Leu1748Arg)
n.3556T>G
c.265+147308T>G (n.265+147308T>G)
n.128+1335T>G
c.2699T>G (p.Leu900Arg)
c.3272T>G (p.Leu1091Arg)
n.16302T>G
c.16286T>G (p.Leu5429Arg)
c.16208T>G (p.Leu5403Arg)
c.13592T>G (p.Leu4531Arg)
c.16310T>G (p.Leu5437Arg)
c.16307T>G (p.Leu5436Arg)
c.16229T>G (p.Leu5410Arg)
c.16214T>G (p.Leu5405Arg)
c.16130T>G (p.Leu5377Arg)
c.9428T>G (p.Leu3143Arg)
c.9407T>G (p.Leu3136Arg)
n.16305T>G
5g.90823518T>ACA445436574ADGRV1c.16290T>A (p.Leu5430=)
c.5244T>A (p.Leu1748=)
n.3557T>A
c.265+147309T>A (n.265+147309T>A)
n.128+1336T>A
c.2700T>A (p.Leu900=)
c.3273T>A (p.Leu1091=)
n.16303T>A
c.16287T>A (p.Leu5429=)
c.16209T>A (p.Leu5403=)
c.13593T>A (p.Leu4531=)
c.16311T>A (p.Leu5437=)
c.16308T>A (p.Leu5436=)
c.16230T>A (p.Leu5410=)
c.16215T>A (p.Leu5405=)
c.16131T>A (p.Leu5377=)
c.9429T>A (p.Leu3143=)
c.9408T>A (p.Leu3136=)
n.16306T>A
5g.90823518T>CCA445436575ADGRV1c.16290T>C (p.Leu5430=)
c.5244T>C (p.Leu1748=)
n.3557T>C
c.265+147309T>C (n.265+147309T>C)
n.128+1336T>C
c.2700T>C (p.Leu900=)
c.3273T>C (p.Leu1091=)
n.16303T>C
c.16287T>C (p.Leu5429=)
c.16209T>C (p.Leu5403=)
c.13593T>C (p.Leu4531=)
c.16311T>C (p.Leu5437=)
c.16308T>C (p.Leu5436=)
c.16230T>C (p.Leu5410=)
c.16215T>C (p.Leu5405=)
c.16131T>C (p.Leu5377=)
c.9429T>C (p.Leu3143=)
c.9408T>C (p.Leu3136=)
n.16306T>C
5g.90823518T>GCA445436576ADGRV1c.16290T>G (p.Leu5430=)
c.5244T>G (p.Leu1748=)
n.3557T>G
c.265+147309T>G (n.265+147309T>G)
n.128+1336T>G
c.2700T>G (p.Leu900=)
c.3273T>G (p.Leu1091=)
n.16303T>G
c.16287T>G (p.Leu5429=)
c.16209T>G (p.Leu5403=)
c.13593T>G (p.Leu4531=)
c.16311T>G (p.Leu5437=)
c.16308T>G (p.Leu5436=)
c.16230T>G (p.Leu5410=)
c.16215T>G (p.Leu5405=)
c.16131T>G (p.Leu5377=)
c.9429T>G (p.Leu3143=)
c.9408T>G (p.Leu3136=)
n.16306T>G
5g.90823519C>ACA360425626ADGRV1c.16291C>A (p.Gln5431Lys)
c.5245C>A (p.Gln1749Lys)
n.3558C>A
c.265+147310C>A (n.265+147310C>A)
n.128+1337C>A
c.2701C>A (p.Gln901Lys)
c.3274C>A (p.Gln1092Lys)
n.16304C>A
c.16288C>A (p.Gln5430Lys)
c.16210C>A (p.Gln5404Lys)
c.13594C>A (p.Gln4532Lys)
c.16312C>A (p.Gln5438Lys)
c.16309C>A (p.Gln5437Lys)
c.16231C>A (p.Gln5411Lys)
c.16216C>A (p.Gln5406Lys)
c.16132C>A (p.Gln5378Lys)
c.9430C>A (p.Gln3144Lys)
c.9409C>A (p.Gln3137Lys)
n.16307C>A
5g.90823519C>GCA360425624ADGRV1c.16291C>G (p.Gln5431Glu)
c.5245C>G (p.Gln1749Glu)
n.3558C>G
c.265+147310C>G (n.265+147310C>G)
n.128+1337C>G
c.2701C>G (p.Gln901Glu)
c.3274C>G (p.Gln1092Glu)
n.16304C>G
c.16288C>G (p.Gln5430Glu)
c.16210C>G (p.Gln5404Glu)
c.13594C>G (p.Gln4532Glu)
c.16312C>G (p.Gln5438Glu)
c.16309C>G (p.Gln5437Glu)
c.16231C>G (p.Gln5411Glu)
c.16216C>G (p.Gln5406Glu)
c.16132C>G (p.Gln5378Glu)
c.9430C>G (p.Gln3144Glu)
c.9409C>G (p.Gln3137Glu)
n.16307C>G
5g.90823519C>TCA360425625ADGRV1c.16291C>T (p.Gln5431Ter)
c.5245C>T (p.Gln1749Ter)
n.3558C>T
c.265+147310C>T (n.265+147310C>T)
n.128+1337C>T
c.2701C>T (p.Gln901Ter)
c.3274C>T (p.Gln1092Ter)
n.16304C>T
c.16288C>T (p.Gln5430Ter)
c.16210C>T (p.Gln5404Ter)
c.13594C>T (p.Gln4532Ter)
c.16312C>T (p.Gln5438Ter)
c.16309C>T (p.Gln5437Ter)
c.16231C>T (p.Gln5411Ter)
c.16216C>T (p.Gln5406Ter)
c.16132C>T (p.Gln5378Ter)
c.9430C>T (p.Gln3144Ter)
c.9409C>T (p.Gln3137Ter)
n.16307C>T
 gnomAD v4
5g.90823520A>CCA360425627ADGRV1c.16292A>C (p.Gln5431Pro)
c.5246A>C (p.Gln1749Pro)
n.3559A>C
c.265+147311A>C (n.265+147311A>C)
n.128+1338A>C
c.2702A>C (p.Gln901Pro)
c.3275A>C (p.Gln1092Pro)
n.16305A>C
c.16289A>C (p.Gln5430Pro)
c.16211A>C (p.Gln5404Pro)
c.13595A>C (p.Gln4532Pro)
c.16313A>C (p.Gln5438Pro)
c.16310A>C (p.Gln5437Pro)
c.16232A>C (p.Gln5411Pro)
c.16217A>C (p.Gln5406Pro)
c.16133A>C (p.Gln5378Pro)
c.9431A>C (p.Gln3144Pro)
c.9410A>C (p.Gln3137Pro)
n.16308A>C
 gnomAD v4
5g.90823520A>GCA360425628ADGRV1c.16292A>G (p.Gln5431Arg)
c.5246A>G (p.Gln1749Arg)
n.3559A>G
c.265+147311A>G (n.265+147311A>G)
n.128+1338A>G
c.2702A>G (p.Gln901Arg)
c.3275A>G (p.Gln1092Arg)
n.16305A>G
c.16289A>G (p.Gln5430Arg)
c.16211A>G (p.Gln5404Arg)
c.13595A>G (p.Gln4532Arg)
c.16313A>G (p.Gln5438Arg)
c.16310A>G (p.Gln5437Arg)
c.16232A>G (p.Gln5411Arg)
c.16217A>G (p.Gln5406Arg)
c.16133A>G (p.Gln5378Arg)
c.9431A>G (p.Gln3144Arg)
c.9410A>G (p.Gln3137Arg)
n.16308A>G
5g.90823520A>TCA360425629ADGRV1c.16292A>T (p.Gln5431Leu)
c.5246A>T (p.Gln1749Leu)
n.3559A>T
c.265+147311A>T (n.265+147311A>T)
n.128+1338A>T
c.2702A>T (p.Gln901Leu)
c.3275A>T (p.Gln1092Leu)
n.16305A>T
c.16289A>T (p.Gln5430Leu)
c.16211A>T (p.Gln5404Leu)
c.13595A>T (p.Gln4532Leu)
c.16313A>T (p.Gln5438Leu)
c.16310A>T (p.Gln5437Leu)
c.16232A>T (p.Gln5411Leu)
c.16217A>T (p.Gln5406Leu)
c.16133A>T (p.Gln5378Leu)
c.9431A>T (p.Gln3144Leu)
c.9410A>T (p.Gln3137Leu)
n.16308A>T
5g.90823521G>ACA445436577ADGRV1c.16293G>A (p.Gln5431=)
c.5247G>A (p.Gln1749=)
n.3560G>A
c.265+147312G>A (n.265+147312G>A)
n.128+1339G>A
c.2703G>A (p.Gln901=)
c.3276G>A (p.Gln1092=)
n.16306G>A
c.16290G>A (p.Gln5430=)
c.16212G>A (p.Gln5404=)
c.13596G>A (p.Gln4532=)
c.16314G>A (p.Gln5438=)
c.16311G>A (p.Gln5437=)
c.16233G>A (p.Gln5411=)
c.16218G>A (p.Gln5406=)
c.16134G>A (p.Gln5378=)
c.9432G>A (p.Gln3144=)
c.9411G>A (p.Gln3137=)
n.16309G>A
 ClinVar dbSNP gnomAD v4
5g.90823521G>CCA360425630ADGRV1c.16293G>C (p.Gln5431His)
c.5247G>C (p.Gln1749His)
n.3560G>C
c.265+147312G>C (n.265+147312G>C)
n.128+1339G>C
c.2703G>C (p.Gln901His)
c.3276G>C (p.Gln1092His)
n.16306G>C
c.16290G>C (p.Gln5430His)
c.16212G>C (p.Gln5404His)
c.13596G>C (p.Gln4532His)
c.16314G>C (p.Gln5438His)
c.16311G>C (p.Gln5437His)
c.16233G>C (p.Gln5411His)
c.16218G>C (p.Gln5406His)
c.16134G>C (p.Gln5378His)
c.9432G>C (p.Gln3144His)
c.9411G>C (p.Gln3137His)
n.16309G>C
5g.90823521G=CA1562918287ADGRV1c.16293G= (p.Gln5431=)
c.5247G= (p.Gln1749=)
n.3560G=
c.265+147312G= (n.265+147312G=)
n.128+1339G=
c.2703G= (p.Gln901=)
c.3276G= (p.Gln1092=)
n.16306G=
c.16290G= (p.Gln5430=)
c.16212G= (p.Gln5404=)
c.13596G= (p.Gln4532=)
c.16314G= (p.Gln5438=)
c.16311G= (p.Gln5437=)
c.16233G= (p.Gln5411=)
c.16218G= (p.Gln5406=)
c.16134G= (p.Gln5378=)
c.9432G= (p.Gln3144=)
c.9411G= (p.Gln3137=)
n.16309G=
5g.90823521G>TCA3342109ADGRV1c.16293G>T (p.Gln5431His)
c.5247G>T (p.Gln1749His)
n.3560G>T
c.265+147312G>T (n.265+147312G>T)
n.128+1339G>T
c.2703G>T (p.Gln901His)
c.3276G>T (p.Gln1092His)
n.16306G>T
c.16290G>T (p.Gln5430His)
c.16212G>T (p.Gln5404His)
c.13596G>T (p.Gln4532His)
c.16314G>T (p.Gln5438His)
c.16311G>T (p.Gln5437His)
c.16233G>T (p.Gln5411His)
c.16218G>T (p.Gln5406His)
c.16134G>T (p.Gln5378His)
c.9432G>T (p.Gln3144His)
c.9411G>T (p.Gln3137His)
n.16309G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90823522T>ACA360425633ADGRV1c.16294T>A (p.Ser5432Thr)
c.5248T>A (p.Ser1750Thr)
n.3561T>A
c.265+147313T>A (n.265+147313T>A)
n.128+1340T>A
c.2704T>A (p.Ser902Thr)
c.3277T>A (p.Ser1093Thr)
n.16307T>A
c.16291T>A (p.Ser5431Thr)
c.16213T>A (p.Ser5405Thr)
c.13597T>A (p.Ser4533Thr)
c.16315T>A (p.Ser5439Thr)
c.16312T>A (p.Ser5438Thr)
c.16234T>A (p.Ser5412Thr)
c.16219T>A (p.Ser5407Thr)
c.16135T>A (p.Ser5379Thr)
c.9433T>A (p.Ser3145Thr)
c.9412T>A (p.Ser3138Thr)
n.16310T>A
5g.90823522T>CCA360425631ADGRV1c.16294T>C (p.Ser5432Pro)
c.5248T>C (p.Ser1750Pro)
n.3561T>C
c.265+147313T>C (n.265+147313T>C)
n.128+1340T>C
c.2704T>C (p.Ser902Pro)
c.3277T>C (p.Ser1093Pro)
n.16307T>C
c.16291T>C (p.Ser5431Pro)
c.16213T>C (p.Ser5405Pro)
c.13597T>C (p.Ser4533Pro)
c.16315T>C (p.Ser5439Pro)
c.16312T>C (p.Ser5438Pro)
c.16234T>C (p.Ser5412Pro)
c.16219T>C (p.Ser5407Pro)
c.16135T>C (p.Ser5379Pro)
c.9433T>C (p.Ser3145Pro)
c.9412T>C (p.Ser3138Pro)
n.16310T>C
5g.90823522T>GCA360425632ADGRV1c.16294T>G (p.Ser5432Ala)
c.5248T>G (p.Ser1750Ala)
n.3561T>G
c.265+147313T>G (n.265+147313T>G)
n.128+1340T>G
c.2704T>G (p.Ser902Ala)
c.3277T>G (p.Ser1093Ala)
n.16307T>G
c.16291T>G (p.Ser5431Ala)
c.16213T>G (p.Ser5405Ala)
c.13597T>G (p.Ser4533Ala)
c.16315T>G (p.Ser5439Ala)
c.16312T>G (p.Ser5438Ala)
c.16234T>G (p.Ser5412Ala)
c.16219T>G (p.Ser5407Ala)
c.16135T>G (p.Ser5379Ala)
c.9433T>G (p.Ser3145Ala)
c.9412T>G (p.Ser3138Ala)
n.16310T>G
5g.90823523C>ACA360425634ADGRV1c.16295C>A (p.Ser5432Tyr)
c.5249C>A (p.Ser1750Tyr)
n.3562C>A
c.265+147314C>A (n.265+147314C>A)
n.128+1341C>A
c.2705C>A (p.Ser902Tyr)
c.3278C>A (p.Ser1093Tyr)
n.16308C>A
c.16292C>A (p.Ser5431Tyr)
c.16214C>A (p.Ser5405Tyr)
c.13598C>A (p.Ser4533Tyr)
c.16316C>A (p.Ser5439Tyr)
c.16313C>A (p.Ser5438Tyr)
c.16235C>A (p.Ser5412Tyr)
c.16220C>A (p.Ser5407Tyr)
c.16136C>A (p.Ser5379Tyr)
c.9434C>A (p.Ser3145Tyr)
c.9413C>A (p.Ser3138Tyr)
n.16311C>A
5g.90823523C=CA1562918288ADGRV1c.16295C= (p.Ser5432=)
c.5249C= (p.Ser1750=)
n.3562C=
c.265+147314C= (n.265+147314C=)
n.128+1341C=
c.2705C= (p.Ser902=)
c.3278C= (p.Ser1093=)
n.16308C=
c.16292C= (p.Ser5431=)
c.16214C= (p.Ser5405=)
c.13598C= (p.Ser4533=)
c.16316C= (p.Ser5439=)
c.16313C= (p.Ser5438=)
c.16235C= (p.Ser5412=)
c.16220C= (p.Ser5407=)
c.16136C= (p.Ser5379=)
c.9434C= (p.Ser3145=)
c.9413C= (p.Ser3138=)
n.16311C=
5g.90823523C>GCA360425635ADGRV1c.16295C>G (p.Ser5432Cys)
c.5249C>G (p.Ser1750Cys)
n.3562C>G
c.265+147314C>G (n.265+147314C>G)
n.128+1341C>G
c.2705C>G (p.Ser902Cys)
c.3278C>G (p.Ser1093Cys)
n.16308C>G
c.16292C>G (p.Ser5431Cys)
c.16214C>G (p.Ser5405Cys)
c.13598C>G (p.Ser4533Cys)
c.16316C>G (p.Ser5439Cys)
c.16313C>G (p.Ser5438Cys)
c.16235C>G (p.Ser5412Cys)
c.16220C>G (p.Ser5407Cys)
c.16136C>G (p.Ser5379Cys)
c.9434C>G (p.Ser3145Cys)
c.9413C>G (p.Ser3138Cys)
n.16311C>G
5g.90823523C>TCA3342110ADGRV1c.16295C>T (p.Ser5432Phe)
c.5249C>T (p.Ser1750Phe)
n.3562C>T
c.265+147314C>T (n.265+147314C>T)
n.128+1341C>T
c.2705C>T (p.Ser902Phe)
c.3278C>T (p.Ser1093Phe)
n.16308C>T
c.16292C>T (p.Ser5431Phe)
c.16214C>T (p.Ser5405Phe)
c.13598C>T (p.Ser4533Phe)
c.16316C>T (p.Ser5439Phe)
c.16313C>T (p.Ser5438Phe)
c.16235C>T (p.Ser5412Phe)
c.16220C>T (p.Ser5407Phe)
c.16136C>T (p.Ser5379Phe)
c.9434C>T (p.Ser3145Phe)
c.9413C>T (p.Ser3138Phe)
n.16311C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.90823524T>ACA445436580ADGRV1c.16296T>A (p.Ser5432=)
c.5250T>A (p.Ser1750=)
n.3563T>A
c.265+147315T>A (n.265+147315T>A)
n.128+1342T>A
c.2706T>A (p.Ser902=)
c.3279T>A (p.Ser1093=)
n.16309T>A
c.16293T>A (p.Ser5431=)
c.16215T>A (p.Ser5405=)
c.13599T>A (p.Ser4533=)
c.16317T>A (p.Ser5439=)
c.16314T>A (p.Ser5438=)
c.16236T>A (p.Ser5412=)
c.16221T>A (p.Ser5407=)
c.16137T>A (p.Ser5379=)
c.9435T>A (p.Ser3145=)
c.9414T>A (p.Ser3138=)
n.16312T>A
5g.90823524T>CCA445436579ADGRV1c.16296T>C (p.Ser5432=)
c.5250T>C (p.Ser1750=)
n.3563T>C
c.265+147315T>C (n.265+147315T>C)
n.128+1342T>C
c.2706T>C (p.Ser902=)
c.3279T>C (p.Ser1093=)
n.16309T>C
c.16293T>C (p.Ser5431=)
c.16215T>C (p.Ser5405=)
c.13599T>C (p.Ser4533=)
c.16317T>C (p.Ser5439=)
c.16314T>C (p.Ser5438=)
c.16236T>C (p.Ser5412=)
c.16221T>C (p.Ser5407=)
c.16137T>C (p.Ser5379=)
c.9435T>C (p.Ser3145=)
c.9414T>C (p.Ser3138=)
n.16312T>C
5g.90823524T>GCA445436578ADGRV1c.16296T>G (p.Ser5432=)
c.5250T>G (p.Ser1750=)
n.3563T>G
c.265+147315T>G (n.265+147315T>G)
n.128+1342T>G
c.2706T>G (p.Ser902=)
c.3279T>G (p.Ser1093=)
n.16309T>G
c.16293T>G (p.Ser5431=)
c.16215T>G (p.Ser5405=)
c.13599T>G (p.Ser4533=)
c.16317T>G (p.Ser5439=)
c.16314T>G (p.Ser5438=)
c.16236T>G (p.Ser5412=)
c.16221T>G (p.Ser5407=)
c.16137T>G (p.Ser5379=)
c.9435T>G (p.Ser3145=)
c.9414T>G (p.Ser3138=)
n.16312T>G
5g.90823527_90823528delCA2674577103ADGRV1c.16299_16300del (p.Ser5434ArgfsTer17)
c.5253_5254del (p.Ser1752ArgfsTer17)
n.3566_3567del
c.265+147318_265+147319del (n.265+147318_265+147319del)
n.128+1345_128+1346del
c.2709_2710del (p.Ser904ArgfsTer17)
c.3282_3283del (p.Ser1095ArgfsTer17)
n.16312_16313del
c.16296_16297del (p.Ser5433ArgfsTer17)
c.16218_16219del (p.Ser5407ArgfsTer17)
c.13602_13603del (p.Ser4535ArgfsTer17)
c.16320_16321del (p.Ser5441ArgfsTer17)
c.16317_16318del (p.Ser5440ArgfsTer17)
c.16239_16240del (p.Ser5414ArgfsTer17)
c.16224_16225del (p.Ser5409ArgfsTer17)
c.16140_16141del (p.Ser5381ArgfsTer17)
c.9438_9439del (p.Ser3147ArgfsTer17)
c.9417_9418del (p.Ser3140ArgfsTer17)
n.16315_16316del
 gnomAD v4
5g.90823525G>ACA360425636ADGRV1c.16297G>A (p.Val5433Met)
c.5251G>A (p.Val1751Met)
n.3564G>A
c.265+147316G>A (n.265+147316G>A)
n.128+1343G>A
c.2707G>A (p.Val903Met)
c.3280G>A (p.Val1094Met)
n.16310G>A
c.16294G>A (p.Val5432Met)
c.16216G>A (p.Val5406Met)
c.13600G>A (p.Val4534Met)
c.16318G>A (p.Val5440Met)
c.16315G>A (p.Val5439Met)
c.16237G>A (p.Val5413Met)
c.16222G>A (p.Val5408Met)
c.16138G>A (p.Val5380Met)
c.9436G>A (p.Val3146Met)
c.9415G>A (p.Val3139Met)
n.16313G>A
5g.90823525G>CCA360425637ADGRV1c.16297G>C (p.Val5433Leu)
c.5251G>C (p.Val1751Leu)
n.3564G>C
c.265+147316G>C (n.265+147316G>C)
n.128+1343G>C
c.2707G>C (p.Val903Leu)
c.3280G>C (p.Val1094Leu)
n.16310G>C
c.16294G>C (p.Val5432Leu)
c.16216G>C (p.Val5406Leu)
c.13600G>C (p.Val4534Leu)
c.16318G>C (p.Val5440Leu)
c.16315G>C (p.Val5439Leu)
c.16237G>C (p.Val5413Leu)
c.16222G>C (p.Val5408Leu)
c.16138G>C (p.Val5380Leu)
c.9436G>C (p.Val3146Leu)
c.9415G>C (p.Val3139Leu)
n.16313G>C
 gnomAD v4
5g.90823525G>TCA360425638ADGRV1c.16297G>T (p.Val5433Leu)
c.5251G>T (p.Val1751Leu)
n.3564G>T
c.265+147316G>T (n.265+147316G>T)
n.128+1343G>T
c.2707G>T (p.Val903Leu)
c.3280G>T (p.Val1094Leu)
n.16310G>T
c.16294G>T (p.Val5432Leu)
c.16216G>T (p.Val5406Leu)
c.13600G>T (p.Val4534Leu)
c.16318G>T (p.Val5440Leu)
c.16315G>T (p.Val5439Leu)
c.16237G>T (p.Val5413Leu)
c.16222G>T (p.Val5408Leu)
c.16138G>T (p.Val5380Leu)
c.9436G>T (p.Val3146Leu)
c.9415G>T (p.Val3139Leu)
n.16313G>T
5g.90823526T>ACA360425639ADGRV1c.16298T>A (p.Val5433Glu)
c.5252T>A (p.Val1751Glu)
n.3565T>A
c.265+147317T>A (n.265+147317T>A)
n.128+1344T>A
c.2708T>A (p.Val903Glu)
c.3281T>A (p.Val1094Glu)
n.16311T>A
c.16295T>A (p.Val5432Glu)
c.16217T>A (p.Val5406Glu)
c.13601T>A (p.Val4534Glu)
c.16319T>A (p.Val5440Glu)
c.16316T>A (p.Val5439Glu)
c.16238T>A (p.Val5413Glu)
c.16223T>A (p.Val5408Glu)
c.16139T>A (p.Val5380Glu)
c.9437T>A (p.Val3146Glu)
c.9416T>A (p.Val3139Glu)
n.16314T>A
5g.90823526T>CCA360425640ADGRV1c.16298T>C (p.Val5433Ala)
c.5252T>C (p.Val1751Ala)
n.3565T>C
c.265+147317T>C (n.265+147317T>C)
n.128+1344T>C
c.2708T>C (p.Val903Ala)
c.3281T>C (p.Val1094Ala)
n.16311T>C
c.16295T>C (p.Val5432Ala)
c.16217T>C (p.Val5406Ala)
c.13601T>C (p.Val4534Ala)
c.16319T>C (p.Val5440Ala)
c.16316T>C (p.Val5439Ala)
c.16238T>C (p.Val5413Ala)
c.16223T>C (p.Val5408Ala)
c.16139T>C (p.Val5380Ala)
c.9437T>C (p.Val3146Ala)
c.9416T>C (p.Val3139Ala)
n.16314T>C
5g.90823526T>GCA360425641ADGRV1c.16298T>G (p.Val5433Gly)
c.5252T>G (p.Val1751Gly)
n.3565T>G
c.265+147317T>G (n.265+147317T>G)
n.128+1344T>G
c.2708T>G (p.Val903Gly)
c.3281T>G (p.Val1094Gly)
n.16311T>G
c.16295T>G (p.Val5432Gly)
c.16217T>G (p.Val5406Gly)
c.13601T>G (p.Val4534Gly)
c.16319T>G (p.Val5440Gly)
c.16316T>G (p.Val5439Gly)
c.16238T>G (p.Val5413Gly)
c.16223T>G (p.Val5408Gly)
c.16139T>G (p.Val5380Gly)
c.9437T>G (p.Val3146Gly)
c.9416T>G (p.Val3139Gly)
n.16314T>G
 gnomAD v4
5g.90823527G>ACA445436581ADGRV1c.16299G>A (p.Val5433=)
c.5253G>A (p.Val1751=)
n.3566G>A
c.265+147318G>A (n.265+147318G>A)
n.128+1345G>A
c.2709G>A (p.Val903=)
c.3282G>A (p.Val1094=)
n.16312G>A
c.16296G>A (p.Val5432=)
c.16218G>A (p.Val5406=)
c.13602G>A (p.Val4534=)
c.16320G>A (p.Val5440=)
c.16317G>A (p.Val5439=)
c.16239G>A (p.Val5413=)
c.16224G>A (p.Val5408=)
c.16140G>A (p.Val5380=)
c.9438G>A (p.Val3146=)
c.9417G>A (p.Val3139=)
n.16315G>A
 dbSNP
5g.90823527G>CCA445436582ADGRV1c.16299G>C (p.Val5433=)
c.5253G>C (p.Val1751=)
n.3566G>C
c.265+147318G>C (n.265+147318G>C)
n.128+1345G>C
c.2709G>C (p.Val903=)
c.3282G>C (p.Val1094=)
n.16312G>C
c.16296G>C (p.Val5432=)
c.16218G>C (p.Val5406=)
c.13602G>C (p.Val4534=)
c.16320G>C (p.Val5440=)
c.16317G>C (p.Val5439=)
c.16239G>C (p.Val5413=)
c.16224G>C (p.Val5408=)
c.16140G>C (p.Val5380=)
c.9438G>C (p.Val3146=)
c.9417G>C (p.Val3139=)
n.16315G>C
 gnomAD v4
5g.90823527G=CA1562918289ADGRV1c.16299G= (p.Val5433=)
c.5253G= (p.Val1751=)
n.3566G=
c.265+147318G= (n.265+147318G=)
n.128+1345G=
c.2709G= (p.Val903=)
c.3282G= (p.Val1094=)
n.16312G=
c.16296G= (p.Val5432=)
c.16218G= (p.Val5406=)
c.13602G= (p.Val4534=)
c.16320G= (p.Val5440=)
c.16317G= (p.Val5439=)
c.16239G= (p.Val5413=)
c.16224G= (p.Val5408=)
c.16140G= (p.Val5380=)
c.9438G= (p.Val3146=)
c.9417G= (p.Val3139=)
n.16315G=
5g.90823527G>TCA445436583ADGRV1c.16299G>T (p.Val5433=)
c.5253G>T (p.Val1751=)
n.3566G>T
c.265+147318G>T (n.265+147318G>T)
n.128+1345G>T
c.2709G>T (p.Val903=)
c.3282G>T (p.Val1094=)
n.16312G>T
c.16296G>T (p.Val5432=)
c.16218G>T (p.Val5406=)
c.13602G>T (p.Val4534=)
c.16320G>T (p.Val5440=)
c.16317G>T (p.Val5439=)
c.16239G>T (p.Val5413=)
c.16224G>T (p.Val5408=)
c.16140G>T (p.Val5380=)
c.9438G>T (p.Val3146=)
c.9417G>T (p.Val3139=)
n.16315G>T
 ClinVar
5g.90823528T>ACA360425642ADGRV1c.16300T>A (p.Ser5434Thr)
c.5254T>A (p.Ser1752Thr)
n.3567T>A
c.265+147319T>A (n.265+147319T>A)
n.128+1346T>A
c.2710T>A (p.Ser904Thr)
c.3283T>A (p.Ser1095Thr)
n.16313T>A
c.16297T>A (p.Ser5433Thr)
c.16219T>A (p.Ser5407Thr)
c.13603T>A (p.Ser4535Thr)
c.16321T>A (p.Ser5441Thr)
c.16318T>A (p.Ser5440Thr)
c.16240T>A (p.Ser5414Thr)
c.16225T>A (p.Ser5409Thr)
c.16141T>A (p.Ser5381Thr)
c.9439T>A (p.Ser3147Thr)
c.9418T>A (p.Ser3140Thr)
n.16316T>A
5g.90823528T>CCA360425643ADGRV1c.16300T>C (p.Ser5434Pro)
c.5254T>C (p.Ser1752Pro)
n.3567T>C
c.265+147319T>C (n.265+147319T>C)
n.128+1346T>C
c.2710T>C (p.Ser904Pro)
c.3283T>C (p.Ser1095Pro)
n.16313T>C
c.16297T>C (p.Ser5433Pro)
c.16219T>C (p.Ser5407Pro)
c.13603T>C (p.Ser4535Pro)
c.16321T>C (p.Ser5441Pro)
c.16318T>C (p.Ser5440Pro)
c.16240T>C (p.Ser5414Pro)
c.16225T>C (p.Ser5409Pro)
c.16141T>C (p.Ser5381Pro)
c.9439T>C (p.Ser3147Pro)
c.9418T>C (p.Ser3140Pro)
n.16316T>C
5g.90823528T>GCA360425644ADGRV1c.16300T>G (p.Ser5434Ala)
c.5254T>G (p.Ser1752Ala)
n.3567T>G
c.265+147319T>G (n.265+147319T>G)
n.128+1346T>G
c.2710T>G (p.Ser904Ala)
c.3283T>G (p.Ser1095Ala)
n.16313T>G
c.16297T>G (p.Ser5433Ala)
c.16219T>G (p.Ser5407Ala)
c.13603T>G (p.Ser4535Ala)
c.16321T>G (p.Ser5441Ala)
c.16318T>G (p.Ser5440Ala)
c.16240T>G (p.Ser5414Ala)
c.16225T>G (p.Ser5409Ala)
c.16141T>G (p.Ser5381Ala)
c.9439T>G (p.Ser3147Ala)
c.9418T>G (p.Ser3140Ala)
n.16316T>G
5g.90823529C>ACA360425645ADGRV1c.16301C>A (p.Ser5434Ter)
c.5255C>A (p.Ser1752Ter)
n.3568C>A
c.265+147320C>A (n.265+147320C>A)
n.128+1347C>A
c.2711C>A (p.Ser904Ter)
c.3284C>A (p.Ser1095Ter)
n.16314C>A
c.16298C>A (p.Ser5433Ter)
c.16220C>A (p.Ser5407Ter)
c.13604C>A (p.Ser4535Ter)
c.16322C>A (p.Ser5441Ter)
c.16319C>A (p.Ser5440Ter)
c.16241C>A (p.Ser5414Ter)
c.16226C>A (p.Ser5409Ter)
c.16142C>A (p.Ser5381Ter)
c.9440C>A (p.Ser3147Ter)
c.9419C>A (p.Ser3140Ter)
n.16317C>A
5g.90823529C>GCA360425647ADGRV1c.16301C>G (p.Ser5434Ter)
c.5255C>G (p.Ser1752Ter)
n.3568C>G
c.265+147320C>G (n.265+147320C>G)
n.128+1347C>G
c.2711C>G (p.Ser904Ter)
c.3284C>G (p.Ser1095Ter)
n.16314C>G
c.16298C>G (p.Ser5433Ter)
c.16220C>G (p.Ser5407Ter)
c.13604C>G (p.Ser4535Ter)
c.16322C>G (p.Ser5441Ter)
c.16319C>G (p.Ser5440Ter)
c.16241C>G (p.Ser5414Ter)
c.16226C>G (p.Ser5409Ter)
c.16142C>G (p.Ser5381Ter)
c.9440C>G (p.Ser3147Ter)
c.9419C>G (p.Ser3140Ter)
n.16317C>G
5g.90823529C>TCA360425646ADGRV1c.16301C>T (p.Ser5434Leu)
c.5255C>T (p.Ser1752Leu)
n.3568C>T
c.265+147320C>T (n.265+147320C>T)
n.128+1347C>T
c.2711C>T (p.Ser904Leu)
c.3284C>T (p.Ser1095Leu)
n.16314C>T
c.16298C>T (p.Ser5433Leu)
c.16220C>T (p.Ser5407Leu)
c.13604C>T (p.Ser4535Leu)
c.16322C>T (p.Ser5441Leu)
c.16319C>T (p.Ser5440Leu)
c.16241C>T (p.Ser5414Leu)
c.16226C>T (p.Ser5409Leu)
c.16142C>T (p.Ser5381Leu)
c.9440C>T (p.Ser3147Leu)
c.9419C>T (p.Ser3140Leu)
n.16317C>T
5g.90823530A=CA1562918290ADGRV1c.16302A= (p.Ser5434=)
c.5256A= (p.Ser1752=)
n.3569A=
c.265+147321A= (n.265+147321A=)
n.128+1348A=
c.2712A= (p.Ser904=)
c.3285A= (p.Ser1095=)
n.16315A=
c.16299A= (p.Ser5433=)
c.16221A= (p.Ser5407=)
c.13605A= (p.Ser4535=)
c.16323A= (p.Ser5441=)
c.16320A= (p.Ser5440=)
c.16242A= (p.Ser5414=)
c.16227A= (p.Ser5409=)
c.16143A= (p.Ser5381=)
c.9441A= (p.Ser3147=)
c.9420A= (p.Ser3140=)
n.16318A=
5g.90823530A>CCA122804125ADGRV1c.16302A>C (p.Ser5434=)
c.5256A>C (p.Ser1752=)
n.3569A>C
c.265+147321A>C (n.265+147321A>C)
n.128+1348A>C
c.2712A>C (p.Ser904=)
c.3285A>C (p.Ser1095=)
n.16315A>C
c.16299A>C (p.Ser5433=)
c.16221A>C (p.Ser5407=)
c.13605A>C (p.Ser4535=)
c.16323A>C (p.Ser5441=)
c.16320A>C (p.Ser5440=)
c.16242A>C (p.Ser5414=)
c.16227A>C (p.Ser5409=)
c.16143A>C (p.Ser5381=)
c.9441A>C (p.Ser3147=)
c.9420A>C (p.Ser3140=)
n.16318A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.90823530A>GCA445436584ADGRV1c.16302A>G (p.Ser5434=)
c.5256A>G (p.Ser1752=)
n.3569A>G
c.265+147321A>G (n.265+147321A>G)
n.128+1348A>G
c.2712A>G (p.Ser904=)
c.3285A>G (p.Ser1095=)
n.16315A>G
c.16299A>G (p.Ser5433=)
c.16221A>G (p.Ser5407=)
c.13605A>G (p.Ser4535=)
c.16323A>G (p.Ser5441=)
c.16320A>G (p.Ser5440=)
c.16242A>G (p.Ser5414=)
c.16227A>G (p.Ser5409=)
c.16143A>G (p.Ser5381=)
c.9441A>G (p.Ser3147=)
c.9420A>G (p.Ser3140=)
n.16318A>G
 dbSNP gnomAD v4
5g.90823530A>TCA445436585ADGRV1c.16302A>T (p.Ser5434=)
c.5256A>T (p.Ser1752=)
n.3569A>T
c.265+147321A>T (n.265+147321A>T)
n.128+1348A>T
c.2712A>T (p.Ser904=)
c.3285A>T (p.Ser1095=)
n.16315A>T
c.16299A>T (p.Ser5433=)
c.16221A>T (p.Ser5407=)
c.13605A>T (p.Ser4535=)
c.16323A>T (p.Ser5441=)
c.16320A>T (p.Ser5440=)
c.16242A>T (p.Ser5414=)
c.16227A>T (p.Ser5409=)
c.16143A>T (p.Ser5381=)
c.9441A>T (p.Ser3147=)
c.9420A>T (p.Ser3140=)
n.16318A>T
5g.90823531G>ACA360425648ADGRV1c.16303G>A (p.Gly5435Arg)
c.5257G>A (p.Gly1753Arg)
n.3570G>A
c.265+147322G>A (n.265+147322G>A)
n.128+1349G>A
c.2713G>A (p.Gly905Arg)
c.3286G>A (p.Gly1096Arg)
n.16316G>A
c.16300G>A (p.Gly5434Arg)
c.16222G>A (p.Gly5408Arg)
c.13606G>A (p.Gly4536Arg)
c.16324G>A (p.Gly5442Arg)
c.16321G>A (p.Gly5441Arg)
c.16243G>A (p.Gly5415Arg)
c.16228G>A (p.Gly5410Arg)
c.16144G>A (p.Gly5382Arg)
c.9442G>A (p.Gly3148Arg)
c.9421G>A (p.Gly3141Arg)
n.16319G>A
5g.90823531G>CCA360425649ADGRV1c.16303G>C (p.Gly5435Arg)
c.5257G>C (p.Gly1753Arg)
n.3570G>C
c.265+147322G>C (n.265+147322G>C)
n.128+1349G>C
c.2713G>C (p.Gly905Arg)
c.3286G>C (p.Gly1096Arg)
n.16316G>C
c.16300G>C (p.Gly5434Arg)
c.16222G>C (p.Gly5408Arg)
c.13606G>C (p.Gly4536Arg)
c.16324G>C (p.Gly5442Arg)
c.16321G>C (p.Gly5441Arg)
c.16243G>C (p.Gly5415Arg)
c.16228G>C (p.Gly5410Arg)
c.16144G>C (p.Gly5382Arg)
c.9442G>C (p.Gly3148Arg)
c.9421G>C (p.Gly3141Arg)
n.16319G>C
 gnomAD v4 COSMIC
5g.90823531G>TCA360425650ADGRV1c.16303G>T (p.Gly5435Trp)
c.5257G>T (p.Gly1753Trp)
n.3570G>T
c.265+147322G>T (n.265+147322G>T)
n.128+1349G>T
c.2713G>T (p.Gly905Trp)
c.3286G>T (p.Gly1096Trp)
n.16316G>T
c.16300G>T (p.Gly5434Trp)
c.16222G>T (p.Gly5408Trp)
c.13606G>T (p.Gly4536Trp)
c.16324G>T (p.Gly5442Trp)
c.16321G>T (p.Gly5441Trp)
c.16243G>T (p.Gly5415Trp)
c.16228G>T (p.Gly5410Trp)
c.16144G>T (p.Gly5382Trp)
c.9442G>T (p.Gly3148Trp)
c.9421G>T (p.Gly3141Trp)
n.16319G>T
5g.90823532G>ACA360425651ADGRV1c.16304G>A (p.Gly5435Glu)
c.5258G>A (p.Gly1753Glu)
n.3571G>A
c.265+147323G>A (n.265+147323G>A)
n.128+1350G>A
c.2714G>A (p.Gly905Glu)
c.3287G>A (p.Gly1096Glu)
n.16317G>A
c.16301G>A (p.Gly5434Glu)
c.16223G>A (p.Gly5408Glu)
c.13607G>A (p.Gly4536Glu)
c.16325G>A (p.Gly5442Glu)
c.16322G>A (p.Gly5441Glu)
c.16244G>A (p.Gly5415Glu)
c.16229G>A (p.Gly5410Glu)
c.16145G>A (p.Gly5382Glu)
c.9443G>A (p.Gly3148Glu)
c.9422G>A (p.Gly3141Glu)
n.16320G>A
 gnomAD v4
5g.90823532G>CCA360425652ADGRV1c.16304G>C (p.Gly5435Ala)
c.5258G>C (p.Gly1753Ala)
n.3571G>C
c.265+147323G>C (n.265+147323G>C)
n.128+1350G>C
c.2714G>C (p.Gly905Ala)
c.3287G>C (p.Gly1096Ala)
n.16317G>C
c.16301G>C (p.Gly5434Ala)
c.16223G>C (p.Gly5408Ala)
c.13607G>C (p.Gly4536Ala)
c.16325G>C (p.Gly5442Ala)
c.16322G>C (p.Gly5441Ala)
c.16244G>C (p.Gly5415Ala)
c.16229G>C (p.Gly5410Ala)
c.16145G>C (p.Gly5382Ala)
c.9443G>C (p.Gly3148Ala)
c.9422G>C (p.Gly3141Ala)
n.16320G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.90823532G=CA1562918291ADGRV1c.16304G= (p.Gly5435=)
c.5258G= (p.Gly1753=)
n.3571G=
c.265+147323G= (n.265+147323G=)
n.128+1350G=
c.2714G= (p.Gly905=)
c.3287G= (p.Gly1096=)
n.16317G=
c.16301G= (p.Gly5434=)
c.16223G= (p.Gly5408=)
c.13607G= (p.Gly4536=)
c.16325G= (p.Gly5442=)
c.16322G= (p.Gly5441=)
c.16244G= (p.Gly5415=)
c.16229G= (p.Gly5410=)
c.16145G= (p.Gly5382=)
c.9443G= (p.Gly3148=)
c.9422G= (p.Gly3141=)
n.16320G=
5g.90823532G>TCA360425653ADGRV1c.16304G>T (p.Gly5435Val)
c.5258G>T (p.Gly1753Val)
n.3571G>T
c.265+147323G>T (n.265+147323G>T)
n.128+1350G>T
c.2714G>T (p.Gly905Val)
c.3287G>T (p.Gly1096Val)
n.16317G>T
c.16301G>T (p.Gly5434Val)
c.16223G>T (p.Gly5408Val)
c.13607G>T (p.Gly4536Val)
c.16325G>T (p.Gly5442Val)
c.16322G>T (p.Gly5441Val)
c.16244G>T (p.Gly5415Val)
c.16229G>T (p.Gly5410Val)
c.16145G>T (p.Gly5382Val)
c.9443G>T (p.Gly3148Val)
c.9422G>T (p.Gly3141Val)
n.16320G>T
5g.90823533G>ACA122804127ADGRV1c.16305G>A (p.Gly5435=)
c.5259G>A (p.Gly1753=)
n.3572G>A
c.265+147324G>A (n.265+147324G>A)
n.128+1351G>A
c.2715G>A (p.Gly905=)
c.3288G>A (p.Gly1096=)
n.16318G>A
c.16302G>A (p.Gly5434=)
c.16224G>A (p.Gly5408=)
c.13608G>A (p.Gly4536=)
c.16326G>A (p.Gly5442=)
c.16323G>A (p.Gly5441=)
c.16245G>A (p.Gly5415=)
c.16230G>A (p.Gly5410=)
c.16146G>A (p.Gly5382=)
c.9444G>A (p.Gly3148=)
c.9423G>A (p.Gly3141=)
n.16321G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.90823533G>CCA445436586ADGRV1c.16305G>C (p.Gly5435=)
c.5259G>C (p.Gly1753=)
n.3572G>C
c.265+147324G>C (n.265+147324G>C)
n.128+1351G>C
c.2715G>C (p.Gly905=)
c.3288G>C (p.Gly1096=)
n.16318G>C
c.16302G>C (p.Gly5434=)
c.16224G>C (p.Gly5408=)
c.13608G>C (p.Gly4536=)
c.16326G>C (p.Gly5442=)
c.16323G>C (p.Gly5441=)
c.16245G>C (p.Gly5415=)
c.16230G>C (p.Gly5410=)
c.16146G>C (p.Gly5382=)
c.9444G>C (p.Gly3148=)
c.9423G>C (p.Gly3141=)
n.16321G>C
 ClinVar dbSNP gnomAD v4
5g.90823533G=CA1562918292ADGRV1c.16305G= (p.Gly5435=)
c.5259G= (p.Gly1753=)
n.3572G=
c.265+147324G= (n.265+147324G=)
n.128+1351G=
c.2715G= (p.Gly905=)
c.3288G= (p.Gly1096=)
n.16318G=
c.16302G= (p.Gly5434=)
c.16224G= (p.Gly5408=)
c.13608G= (p.Gly4536=)
c.16326G= (p.Gly5442=)
c.16323G= (p.Gly5441=)
c.16245G= (p.Gly5415=)
c.16230G= (p.Gly5410=)
c.16146G= (p.Gly5382=)
c.9444G= (p.Gly3148=)
c.9423G= (p.Gly3141=)
n.16321G=
5g.90823533G>TCA445436587ADGRV1c.16305G>T (p.Gly5435=)
c.5259G>T (p.Gly1753=)
n.3572G>T
c.265+147324G>T (n.265+147324G>T)
n.128+1351G>T
c.2715G>T (p.Gly905=)
c.3288G>T (p.Gly1096=)
n.16318G>T
c.16302G>T (p.Gly5434=)
c.16224G>T (p.Gly5408=)
c.13608G>T (p.Gly4536=)
c.16326G>T (p.Gly5442=)
c.16323G>T (p.Gly5441=)
c.16245G>T (p.Gly5415=)
c.16230G>T (p.Gly5410=)
c.16146G>T (p.Gly5382=)
c.9444G>T (p.Gly3148=)
c.9423G>T (p.Gly3141=)
n.16321G>T
 gnomAD v4
5g.90823534A>CCA360425656ADGRV1c.16306A>C (p.Thr5436Pro)
c.5260A>C (p.Thr1754Pro)
n.3573A>C
c.265+147325A>C (n.265+147325A>C)
n.128+1352A>C
c.2716A>C (p.Thr906Pro)
c.3289A>C (p.Thr1097Pro)
n.16319A>C
c.16303A>C (p.Thr5435Pro)
c.16225A>C (p.Thr5409Pro)
c.13609A>C (p.Thr4537Pro)
c.16327A>C (p.Thr5443Pro)
c.16324A>C (p.Thr5442Pro)
c.16246A>C (p.Thr5416Pro)
c.16231A>C (p.Thr5411Pro)
c.16147A>C (p.Thr5383Pro)
c.9445A>C (p.Thr3149Pro)
c.9424A>C (p.Thr3142Pro)
n.16322A>C
5g.90823534A>GCA360425654ADGRV1c.16306A>G (p.Thr5436Ala)
c.5260A>G (p.Thr1754Ala)
n.3573A>G
c.265+147325A>G (n.265+147325A>G)
n.128+1352A>G
c.2716A>G (p.Thr906Ala)
c.3289A>G (p.Thr1097Ala)
n.16319A>G
c.16303A>G (p.Thr5435Ala)
c.16225A>G (p.Thr5409Ala)
c.13609A>G (p.Thr4537Ala)
c.16327A>G (p.Thr5443Ala)
c.16324A>G (p.Thr5442Ala)
c.16246A>G (p.Thr5416Ala)
c.16231A>G (p.Thr5411Ala)
c.16147A>G (p.Thr5383Ala)
c.9445A>G (p.Thr3149Ala)
c.9424A>G (p.Thr3142Ala)
n.16322A>G
5g.90823534A>TCA360425655ADGRV1c.16306A>T (p.Thr5436Ser)
c.5260A>T (p.Thr1754Ser)
n.3573A>T
c.265+147325A>T (n.265+147325A>T)
n.128+1352A>T
c.2716A>T (p.Thr906Ser)
c.3289A>T (p.Thr1097Ser)
n.16319A>T
c.16303A>T (p.Thr5435Ser)
c.16225A>T (p.Thr5409Ser)
c.13609A>T (p.Thr4537Ser)
c.16327A>T (p.Thr5443Ser)
c.16324A>T (p.Thr5442Ser)
c.16246A>T (p.Thr5416Ser)
c.16231A>T (p.Thr5411Ser)
c.16147A>T (p.Thr5383Ser)
c.9445A>T (p.Thr3149Ser)
c.9424A>T (p.Thr3142Ser)
n.16322A>T
5g.90823535C>ACA360425657ADGRV1c.16307C>A (p.Thr5436Asn)
c.5261C>A (p.Thr1754Asn)
n.3574C>A
c.265+147326C>A (n.265+147326C>A)
n.128+1353C>A
c.2717C>A (p.Thr906Asn)
c.3290C>A (p.Thr1097Asn)
n.16320C>A
c.16304C>A (p.Thr5435Asn)
c.16226C>A (p.Thr5409Asn)
c.13610C>A (p.Thr4537Asn)
c.16328C>A (p.Thr5443Asn)
c.16325C>A (p.Thr5442Asn)
c.16247C>A (p.Thr5416Asn)
c.16232C>A (p.Thr5411Asn)
c.16148C>A (p.Thr5383Asn)
c.9446C>A (p.Thr3149Asn)
c.9425C>A (p.Thr3142Asn)
n.16323C>A
5g.90823535C>GCA360425658ADGRV1c.16307C>G (p.Thr5436Ser)
c.5261C>G (p.Thr1754Ser)
n.3574C>G
c.265+147326C>G (n.265+147326C>G)
n.128+1353C>G
c.2717C>G (p.Thr906Ser)
c.3290C>G (p.Thr1097Ser)
n.16320C>G
c.16304C>G (p.Thr5435Ser)
c.16226C>G (p.Thr5409Ser)
c.13610C>G (p.Thr4537Ser)
c.16328C>G (p.Thr5443Ser)
c.16325C>G (p.Thr5442Ser)
c.16247C>G (p.Thr5416Ser)
c.16232C>G (p.Thr5411Ser)
c.16148C>G (p.Thr5383Ser)
c.9446C>G (p.Thr3149Ser)
c.9425C>G (p.Thr3142Ser)
n.16323C>G
5g.90823535C>TCA360425659ADGRV1c.16307C>T (p.Thr5436Ile)
c.5261C>T (p.Thr1754Ile)
n.3574C>T
c.265+147326C>T (n.265+147326C>T)
n.128+1353C>T
c.2717C>T (p.Thr906Ile)
c.3290C>T (p.Thr1097Ile)
n.16320C>T
c.16304C>T (p.Thr5435Ile)
c.16226C>T (p.Thr5409Ile)
c.13610C>T (p.Thr4537Ile)
c.16328C>T (p.Thr5443Ile)
c.16325C>T (p.Thr5442Ile)
c.16247C>T (p.Thr5416Ile)
c.16232C>T (p.Thr5411Ile)
c.16148C>T (p.Thr5383Ile)
c.9446C>T (p.Thr3149Ile)
c.9425C>T (p.Thr3142Ile)
n.16323C>T
 gnomAD v4
5g.90823536C>ACA228945ADGRV1c.16308C>A (p.Thr5436=)
c.5262C>A (p.Thr1754=)
n.3575C>A
c.265+147327C>A (n.265+147327C>A)
n.128+1354C>A
c.2718C>A (p.Thr906=)
c.3291C>A (p.Thr1097=)
n.16321C>A
c.16305C>A (p.Thr5435=)
c.16227C>A (p.Thr5409=)
c.13611C>A (p.Thr4537=)
c.16329C>A (p.Thr5443=)
c.16326C>A (p.Thr5442=)
c.16248C>A (p.Thr5416=)
c.16233C>A (p.Thr5411=)
c.16149C>A (p.Thr5383=)
c.9447C>A (p.Thr3149=)
c.9426C>A (p.Thr3142=)
n.16324C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90823536C=CA1562918293ADGRV1c.16308C= (p.Thr5436=)
c.5262C= (p.Thr1754=)
n.3575C=
c.265+147327C= (n.265+147327C=)
n.128+1354C=
c.2718C= (p.Thr906=)
c.3291C= (p.Thr1097=)
n.16321C=
c.16305C= (p.Thr5435=)
c.16227C= (p.Thr5409=)
c.13611C= (p.Thr4537=)
c.16329C= (p.Thr5443=)
c.16326C= (p.Thr5442=)
c.16248C= (p.Thr5416=)
c.16233C= (p.Thr5411=)
c.16149C= (p.Thr5383=)
c.9447C= (p.Thr3149=)
c.9426C= (p.Thr3142=)
n.16324C=
5g.90823536C>GCA445436588ADGRV1c.16308C>G (p.Thr5436=)
c.5262C>G (p.Thr1754=)
n.3575C>G
c.265+147327C>G (n.265+147327C>G)
n.128+1354C>G
c.2718C>G (p.Thr906=)
c.3291C>G (p.Thr1097=)
n.16321C>G
c.16305C>G (p.Thr5435=)
c.16227C>G (p.Thr5409=)
c.13611C>G (p.Thr4537=)
c.16329C>G (p.Thr5443=)
c.16326C>G (p.Thr5442=)
c.16248C>G (p.Thr5416=)
c.16233C>G (p.Thr5411=)
c.16149C>G (p.Thr5383=)
c.9447C>G (p.Thr3149=)
c.9426C>G (p.Thr3142=)
n.16324C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.90823536C>TCA3342111ADGRV1c.16308C>T (p.Thr5436=)
c.5262C>T (p.Thr1754=)
n.3575C>T
c.265+147327C>T (n.265+147327C>T)
n.128+1354C>T
c.2718C>T (p.Thr906=)
c.3291C>T (p.Thr1097=)
n.16321C>T
c.16305C>T (p.Thr5435=)
c.16227C>T (p.Thr5409=)
c.13611C>T (p.Thr4537=)
c.16329C>T (p.Thr5443=)
c.16326C>T (p.Thr5442=)
c.16248C>T (p.Thr5416=)
c.16233C>T (p.Thr5411=)
c.16149C>T (p.Thr5383=)
c.9447C>T (p.Thr3149=)
c.9426C>T (p.Thr3142=)
n.16324C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90823537A=CA1562918294ADGRV1c.16309A= (p.Thr5437=)
c.5263A= (p.Thr1755=)
n.3576A=
c.265+147328A= (n.265+147328A=)
n.128+1355A=
c.2719A= (p.Thr907=)
c.3292A= (p.Thr1098=)
n.16322A=
c.16306A= (p.Thr5436=)
c.16228A= (p.Thr5410=)
c.13612A= (p.Thr4538=)
c.16330A= (p.Thr5444=)
c.16327A= (p.Thr5443=)
c.16249A= (p.Thr5417=)
c.16234A= (p.Thr5412=)
c.16150A= (p.Thr5384=)
c.9448A= (p.Thr3150=)
c.9427A= (p.Thr3143=)
n.16325A=
5g.90823537A>CCA360425661ADGRV1c.16309A>C (p.Thr5437Pro)
c.5263A>C (p.Thr1755Pro)
n.3576A>C
c.265+147328A>C (n.265+147328A>C)
n.128+1355A>C
c.2719A>C (p.Thr907Pro)
c.3292A>C (p.Thr1098Pro)
n.16322A>C
c.16306A>C (p.Thr5436Pro)
c.16228A>C (p.Thr5410Pro)
c.13612A>C (p.Thr4538Pro)
c.16330A>C (p.Thr5444Pro)
c.16327A>C (p.Thr5443Pro)
c.16249A>C (p.Thr5417Pro)
c.16234A>C (p.Thr5412Pro)
c.16150A>C (p.Thr5384Pro)
c.9448A>C (p.Thr3150Pro)
c.9427A>C (p.Thr3143Pro)
n.16325A>C
5g.90823537A>GCA3342112ADGRV1c.16309A>G (p.Thr5437Ala)
c.5263A>G (p.Thr1755Ala)
n.3576A>G
c.265+147328A>G (n.265+147328A>G)
n.128+1355A>G
c.2719A>G (p.Thr907Ala)
c.3292A>G (p.Thr1098Ala)
n.16322A>G
c.16306A>G (p.Thr5436Ala)
c.16228A>G (p.Thr5410Ala)
c.13612A>G (p.Thr4538Ala)
c.16330A>G (p.Thr5444Ala)
c.16327A>G (p.Thr5443Ala)
c.16249A>G (p.Thr5417Ala)
c.16234A>G (p.Thr5412Ala)
c.16150A>G (p.Thr5384Ala)
c.9448A>G (p.Thr3150Ala)
c.9427A>G (p.Thr3143Ala)
n.16325A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90823537A>TCA360425660ADGRV1c.16309A>T (p.Thr5437Ser)
c.5263A>T (p.Thr1755Ser)
n.3576A>T
c.265+147328A>T (n.265+147328A>T)
n.128+1355A>T
c.2719A>T (p.Thr907Ser)
c.3292A>T (p.Thr1098Ser)
n.16322A>T
c.16306A>T (p.Thr5436Ser)
c.16228A>T (p.Thr5410Ser)
c.13612A>T (p.Thr4538Ser)
c.16330A>T (p.Thr5444Ser)
c.16327A>T (p.Thr5443Ser)
c.16249A>T (p.Thr5417Ser)
c.16234A>T (p.Thr5412Ser)
c.16150A>T (p.Thr5384Ser)
c.9448A>T (p.Thr3150Ser)
c.9427A>T (p.Thr3143Ser)
n.16325A>T
5g.90823538delCA2573140034ADGRV1c.16310del (p.Thr5437LysfsTer?)
c.5264del (p.Thr1755LysfsTer?)
n.3577del
c.265+147329del (n.265+147329del)
n.128+1356del
c.2720del (p.Thr907LysfsTer?)
c.3293del (p.Thr1098LysfsTer?)
n.16323del
c.16307del (p.Thr5436LysfsTer?)
c.16229del (p.Thr5410LysfsTer?)
c.13613del (p.Thr4538LysfsTer?)
c.16331del (p.Thr5444LysfsTer?)
c.16328del (p.Thr5443LysfsTer?)
c.16250del (p.Thr5417LysfsTer?)
c.16235del (p.Thr5412LysfsTer?)
c.16151del (p.Thr5384LysfsTer?)
c.9449del (p.Thr3150LysfsTer?)
c.9428del (p.Thr3143LysfsTer?)
n.16326del
 ClinVar dbSNP
5g.90823538C>ACA360425662ADGRV1c.16310C>A (p.Thr5437Lys)
c.5264C>A (p.Thr1755Lys)
n.3577C>A
c.265+147329C>A (n.265+147329C>A)
n.128+1356C>A
c.2720C>A (p.Thr907Lys)
c.3293C>A (p.Thr1098Lys)
n.16323C>A
c.16307C>A (p.Thr5436Lys)
c.16229C>A (p.Thr5410Lys)
c.13613C>A (p.Thr4538Lys)
c.16331C>A (p.Thr5444Lys)
c.16328C>A (p.Thr5443Lys)
c.16250C>A (p.Thr5417Lys)
c.16235C>A (p.Thr5412Lys)
c.16151C>A (p.Thr5384Lys)
c.9449C>A (p.Thr3150Lys)
c.9428C>A (p.Thr3143Lys)
n.16326C>A
5g.90823538C>GCA360425663ADGRV1c.16310C>G (p.Thr5437Arg)
c.5264C>G (p.Thr1755Arg)
n.3577C>G
c.265+147329C>G (n.265+147329C>G)
n.128+1356C>G
c.2720C>G (p.Thr907Arg)
c.3293C>G (p.Thr1098Arg)
n.16323C>G
c.16307C>G (p.Thr5436Arg)
c.16229C>G (p.Thr5410Arg)
c.13613C>G (p.Thr4538Arg)
c.16331C>G (p.Thr5444Arg)
c.16328C>G (p.Thr5443Arg)
c.16250C>G (p.Thr5417Arg)
c.16235C>G (p.Thr5412Arg)
c.16151C>G (p.Thr5384Arg)
c.9449C>G (p.Thr3150Arg)
c.9428C>G (p.Thr3143Arg)
n.16326C>G
5g.90823538C>TCA360425664ADGRV1c.16310C>T (p.Thr5437Ile)
c.5264C>T (p.Thr1755Ile)
n.3577C>T
c.265+147329C>T (n.265+147329C>T)
n.128+1356C>T
c.2720C>T (p.Thr907Ile)
c.3293C>T (p.Thr1098Ile)
n.16323C>T
c.16307C>T (p.Thr5436Ile)
c.16229C>T (p.Thr5410Ile)
c.13613C>T (p.Thr4538Ile)
c.16331C>T (p.Thr5444Ile)
c.16328C>T (p.Thr5443Ile)
c.16250C>T (p.Thr5417Ile)
c.16235C>T (p.Thr5412Ile)
c.16151C>T (p.Thr5384Ile)
c.9449C>T (p.Thr3150Ile)
c.9428C>T (p.Thr3143Ile)
n.16326C>T
 dbSNP gnomAD v3 gnomAD v4
5g.90823539A>CCA445436589ADGRV1c.16311A>C (p.Thr5437=)
c.5265A>C (p.Thr1755=)
n.3578A>C
c.265+147330A>C (n.265+147330A>C)
n.128+1357A>C
c.2721A>C (p.Thr907=)
c.3294A>C (p.Thr1098=)
n.16324A>C
c.16308A>C (p.Thr5436=)
c.16230A>C (p.Thr5410=)
c.13614A>C (p.Thr4538=)
c.16332A>C (p.Thr5444=)
c.16329A>C (p.Thr5443=)
c.16251A>C (p.Thr5417=)
c.16236A>C (p.Thr5412=)
c.16152A>C (p.Thr5384=)
c.9450A>C (p.Thr3150=)
c.9429A>C (p.Thr3143=)
n.16327A>C
 ClinVar
5g.90823539A>GCA445436590ADGRV1c.16311A>G (p.Thr5437=)
c.5265A>G (p.Thr1755=)
n.3578A>G
c.265+147330A>G (n.265+147330A>G)
n.128+1357A>G
c.2721A>G (p.Thr907=)
c.3294A>G (p.Thr1098=)
n.16324A>G
c.16308A>G (p.Thr5436=)
c.16230A>G (p.Thr5410=)
c.13614A>G (p.Thr4538=)
c.16332A>G (p.Thr5444=)
c.16329A>G (p.Thr5443=)
c.16251A>G (p.Thr5417=)
c.16236A>G (p.Thr5412=)
c.16152A>G (p.Thr5384=)
c.9450A>G (p.Thr3150=)
c.9429A>G (p.Thr3143=)
n.16327A>G
5g.90823539A>TCA445436591ADGRV1c.16311A>T (p.Thr5437=)
c.5265A>T (p.Thr1755=)
n.3578A>T
c.265+147330A>T (n.265+147330A>T)
n.128+1357A>T
c.2721A>T (p.Thr907=)
c.3294A>T (p.Thr1098=)
n.16324A>T
c.16308A>T (p.Thr5436=)
c.16230A>T (p.Thr5410=)
c.13614A>T (p.Thr4538=)
c.16332A>T (p.Thr5444=)
c.16329A>T (p.Thr5443=)
c.16251A>T (p.Thr5417=)
c.16236A>T (p.Thr5412=)
c.16152A>T (p.Thr5384=)
c.9450A>T (p.Thr3150=)
c.9429A>T (p.Thr3143=)
n.16327A>T
5g.90823540A=CA1562918295ADGRV1c.16312A= (p.Thr5438=)
c.5266A= (p.Thr1756=)
n.3579A=
c.265+147331A= (n.265+147331A=)
n.128+1358A=
c.2722A= (p.Thr908=)
c.3295A= (p.Thr1099=)
n.16325A=
c.16309A= (p.Thr5437=)
c.16231A= (p.Thr5411=)
c.13615A= (p.Thr4539=)
c.16333A= (p.Thr5445=)
c.16330A= (p.Thr5444=)
c.16252A= (p.Thr5418=)
c.16237A= (p.Thr5413=)
c.16153A= (p.Thr5385=)
c.9451A= (p.Thr3151=)
c.9430A= (p.Thr3144=)
n.16328A=
5g.90823540A>CCA360425665ADGRV1c.16312A>C (p.Thr5438Pro)
c.5266A>C (p.Thr1756Pro)
n.3579A>C
c.265+147331A>C (n.265+147331A>C)
n.128+1358A>C
c.2722A>C (p.Thr908Pro)
c.3295A>C (p.Thr1099Pro)
n.16325A>C
c.16309A>C (p.Thr5437Pro)
c.16231A>C (p.Thr5411Pro)
c.13615A>C (p.Thr4539Pro)
c.16333A>C (p.Thr5445Pro)
c.16330A>C (p.Thr5444Pro)
c.16252A>C (p.Thr5418Pro)
c.16237A>C (p.Thr5413Pro)
c.16153A>C (p.Thr5385Pro)
c.9451A>C (p.Thr3151Pro)
c.9430A>C (p.Thr3144Pro)
n.16328A>C
5g.90823540A>GCA182202ADGRV1c.16312A>G (p.Thr5438Ala)
c.5266A>G (p.Thr1756Ala)
n.3579A>G
c.265+147331A>G (n.265+147331A>G)
n.128+1358A>G
c.2722A>G (p.Thr908Ala)
c.3295A>G (p.Thr1099Ala)
n.16325A>G
c.16309A>G (p.Thr5437Ala)
c.16231A>G (p.Thr5411Ala)
c.13615A>G (p.Thr4539Ala)
c.16333A>G (p.Thr5445Ala)
c.16330A>G (p.Thr5444Ala)
c.16252A>G (p.Thr5418Ala)
c.16237A>G (p.Thr5413Ala)
c.16153A>G (p.Thr5385Ala)
c.9451A>G (p.Thr3151Ala)
c.9430A>G (p.Thr3144Ala)
n.16328A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90823540A>TCA360425666ADGRV1c.16312A>T (p.Thr5438Ser)
c.5266A>T (p.Thr1756Ser)
n.3579A>T
c.265+147331A>T (n.265+147331A>T)
n.128+1358A>T
c.2722A>T (p.Thr908Ser)
c.3295A>T (p.Thr1099Ser)
n.16325A>T
c.16309A>T (p.Thr5437Ser)
c.16231A>T (p.Thr5411Ser)
c.13615A>T (p.Thr4539Ser)
c.16333A>T (p.Thr5445Ser)
c.16330A>T (p.Thr5444Ser)
c.16252A>T (p.Thr5418Ser)
c.16237A>T (p.Thr5413Ser)
c.16153A>T (p.Thr5385Ser)
c.9451A>T (p.Thr3151Ser)
c.9430A>T (p.Thr3144Ser)
n.16328A>T
5g.90823541C>ACA360425667ADGRV1c.16313C>A (p.Thr5438Asn)
c.5267C>A (p.Thr1756Asn)
n.3580C>A
c.265+147332C>A (n.265+147332C>A)
n.128+1359C>A
c.2723C>A (p.Thr908Asn)
c.3296C>A (p.Thr1099Asn)
n.16326C>A
c.16310C>A (p.Thr5437Asn)
c.16232C>A (p.Thr5411Asn)
c.13616C>A (p.Thr4539Asn)
c.16334C>A (p.Thr5445Asn)
c.16331C>A (p.Thr5444Asn)
c.16253C>A (p.Thr5418Asn)
c.16238C>A (p.Thr5413Asn)
c.16154C>A (p.Thr5385Asn)
c.9452C>A (p.Thr3151Asn)
c.9431C>A (p.Thr3144Asn)
n.16329C>A
5g.90823541C=CA1562918296ADGRV1c.16313C= (p.Thr5438=)
c.5267C= (p.Thr1756=)
n.3580C=
c.265+147332C= (n.265+147332C=)
n.128+1359C=
c.2723C= (p.Thr908=)
c.3296C= (p.Thr1099=)
n.16326C=
c.16310C= (p.Thr5437=)
c.16232C= (p.Thr5411=)
c.13616C= (p.Thr4539=)
c.16334C= (p.Thr5445=)
c.16331C= (p.Thr5444=)
c.16253C= (p.Thr5418=)
c.16238C= (p.Thr5413=)
c.16154C= (p.Thr5385=)
c.9452C= (p.Thr3151=)
c.9431C= (p.Thr3144=)
n.16329C=
5g.90823541C>GCA3342114ADGRV1c.16313C>G (p.Thr5438Ser)
c.5267C>G (p.Thr1756Ser)
n.3580C>G
c.265+147332C>G (n.265+147332C>G)
n.128+1359C>G
c.2723C>G (p.Thr908Ser)
c.3296C>G (p.Thr1099Ser)
n.16326C>G
c.16310C>G (p.Thr5437Ser)
c.16232C>G (p.Thr5411Ser)
c.13616C>G (p.Thr4539Ser)
c.16334C>G (p.Thr5445Ser)
c.16331C>G (p.Thr5444Ser)
c.16253C>G (p.Thr5418Ser)
c.16238C>G (p.Thr5413Ser)
c.16154C>G (p.Thr5385Ser)
c.9452C>G (p.Thr3151Ser)
c.9431C>G (p.Thr3144Ser)
n.16329C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90823541C>TCA3342113ADGRV1c.16313C>T (p.Thr5438Ile)
c.5267C>T (p.Thr1756Ile)
n.3580C>T
c.265+147332C>T (n.265+147332C>T)
n.128+1359C>T
c.2723C>T (p.Thr908Ile)
c.3296C>T (p.Thr1099Ile)
n.16326C>T
c.16310C>T (p.Thr5437Ile)
c.16232C>T (p.Thr5411Ile)
c.13616C>T (p.Thr4539Ile)
c.16334C>T (p.Thr5445Ile)
c.16331C>T (p.Thr5444Ile)
c.16253C>T (p.Thr5418Ile)
c.16238C>T (p.Thr5413Ile)
c.16154C>T (p.Thr5385Ile)
c.9452C>T (p.Thr3151Ile)
c.9431C>T (p.Thr3144Ile)
n.16329C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90823542C>ACA445436592ADGRV1c.16314C>A (p.Thr5438=)
c.5268C>A (p.Thr1756=)
n.3581C>A
c.265+147333C>A (n.265+147333C>A)
n.128+1360C>A
c.2724C>A (p.Thr908=)
c.3297C>A (p.Thr1099=)
n.16327C>A
c.16311C>A (p.Thr5437=)
c.16233C>A (p.Thr5411=)
c.13617C>A (p.Thr4539=)
c.16335C>A (p.Thr5445=)
c.16332C>A (p.Thr5444=)
c.16254C>A (p.Thr5418=)
c.16239C>A (p.Thr5413=)
c.16155C>A (p.Thr5385=)
c.9453C>A (p.Thr3151=)
c.9432C>A (p.Thr3144=)
n.16330C>A
5g.90823542C>GCA445436593ADGRV1c.16314C>G (p.Thr5438=)
c.5268C>G (p.Thr1756=)
n.3581C>G
c.265+147333C>G (n.265+147333C>G)
n.128+1360C>G
c.2724C>G (p.Thr908=)
c.3297C>G (p.Thr1099=)
n.16327C>G
c.16311C>G (p.Thr5437=)
c.16233C>G (p.Thr5411=)
c.13617C>G (p.Thr4539=)
c.16335C>G (p.Thr5445=)
c.16332C>G (p.Thr5444=)
c.16254C>G (p.Thr5418=)
c.16239C>G (p.Thr5413=)
c.16155C>G (p.Thr5385=)
c.9453C>G (p.Thr3151=)
c.9432C>G (p.Thr3144=)
n.16330C>G
5g.90823542C>TCA445436594ADGRV1c.16314C>T (p.Thr5438=)
c.5268C>T (p.Thr1756=)
n.3581C>T
c.265+147333C>T (n.265+147333C>T)
n.128+1360C>T
c.2724C>T (p.Thr908=)
c.3297C>T (p.Thr1099=)
n.16327C>T
c.16311C>T (p.Thr5437=)
c.16233C>T (p.Thr5411=)
c.13617C>T (p.Thr4539=)
c.16335C>T (p.Thr5445=)
c.16332C>T (p.Thr5444=)
c.16254C>T (p.Thr5418=)
c.16239C>T (p.Thr5413=)
c.16155C>T (p.Thr5385=)
c.9453C>T (p.Thr3151=)
c.9432C>T (p.Thr3144=)
n.16330C>T
 gnomAD v4
5g.90823543T>ACA360425668ADGRV1c.16315T>A (p.Cys5439Ser)
c.5269T>A (p.Cys1757Ser)
n.3582T>A
c.265+147334T>A (n.265+147334T>A)
n.128+1361T>A
c.2725T>A (p.Cys909Ser)
c.3298T>A (p.Cys1100Ser)
n.16328T>A
c.16312T>A (p.Cys5438Ser)
c.16234T>A (p.Cys5412Ser)
c.13618T>A (p.Cys4540Ser)
c.16336T>A (p.Cys5446Ser)
c.16333T>A (p.Cys5445Ser)
c.16255T>A (p.Cys5419Ser)
c.16240T>A (p.Cys5414Ser)
c.16156T>A (p.Cys5386Ser)
c.9454T>A (p.Cys3152Ser)
c.9433T>A (p.Cys3145Ser)
n.16331T>A
5g.90823543T>CCA360425669ADGRV1c.16315T>C (p.Cys5439Arg)
c.5269T>C (p.Cys1757Arg)
n.3582T>C
c.265+147334T>C (n.265+147334T>C)
n.128+1361T>C
c.2725T>C (p.Cys909Arg)
c.3298T>C (p.Cys1100Arg)
n.16328T>C
c.16312T>C (p.Cys5438Arg)
c.16234T>C (p.Cys5412Arg)
c.13618T>C (p.Cys4540Arg)
c.16336T>C (p.Cys5446Arg)
c.16333T>C (p.Cys5445Arg)
c.16255T>C (p.Cys5419Arg)
c.16240T>C (p.Cys5414Arg)
c.16156T>C (p.Cys5386Arg)
c.9454T>C (p.Cys3152Arg)
c.9433T>C (p.Cys3145Arg)
n.16331T>C
5g.90823543T>GCA360425670ADGRV1c.16315T>G (p.Cys5439Gly)
c.5269T>G (p.Cys1757Gly)
n.3582T>G
c.265+147334T>G (n.265+147334T>G)
n.128+1361T>G
c.2725T>G (p.Cys909Gly)
c.3298T>G (p.Cys1100Gly)
n.16328T>G
c.16312T>G (p.Cys5438Gly)
c.16234T>G (p.Cys5412Gly)
c.13618T>G (p.Cys4540Gly)
c.16336T>G (p.Cys5446Gly)
c.16333T>G (p.Cys5445Gly)
c.16255T>G (p.Cys5419Gly)
c.16240T>G (p.Cys5414Gly)
c.16156T>G (p.Cys5386Gly)
c.9454T>G (p.Cys3152Gly)
c.9433T>G (p.Cys3145Gly)
n.16331T>G
5g.90823544G>ACA360425671ADGRV1c.16316G>A (p.Cys5439Tyr)
c.5270G>A (p.Cys1757Tyr)
n.3583G>A
c.265+147335G>A (n.265+147335G>A)
n.128+1362G>A
c.2726G>A (p.Cys909Tyr)
c.3299G>A (p.Cys1100Tyr)
n.16329G>A
c.16313G>A (p.Cys5438Tyr)
c.16235G>A (p.Cys5412Tyr)
c.13619G>A (p.Cys4540Tyr)
c.16337G>A (p.Cys5446Tyr)
c.16334G>A (p.Cys5445Tyr)
c.16256G>A (p.Cys5419Tyr)
c.16241G>A (p.Cys5414Tyr)
c.16157G>A (p.Cys5386Tyr)
c.9455G>A (p.Cys3152Tyr)
c.9434G>A (p.Cys3145Tyr)
n.16332G>A
 dbSNP gnomAD v4
5g.90823544G>CCA360425673ADGRV1c.16316G>C (p.Cys5439Ser)
c.5270G>C (p.Cys1757Ser)
n.3583G>C
c.265+147335G>C (n.265+147335G>C)
n.128+1362G>C
c.2726G>C (p.Cys909Ser)
c.3299G>C (p.Cys1100Ser)
n.16329G>C
c.16313G>C (p.Cys5438Ser)
c.16235G>C (p.Cys5412Ser)
c.13619G>C (p.Cys4540Ser)
c.16337G>C (p.Cys5446Ser)
c.16334G>C (p.Cys5445Ser)
c.16256G>C (p.Cys5419Ser)
c.16241G>C (p.Cys5414Ser)
c.16157G>C (p.Cys5386Ser)
c.9455G>C (p.Cys3152Ser)
c.9434G>C (p.Cys3145Ser)
n.16332G>C
5g.90823544G=CA1562918297ADGRV1c.16316G= (p.Cys5439=)
c.5270G= (p.Cys1757=)
n.3583G=
c.265+147335G= (n.265+147335G=)
n.128+1362G=
c.2726G= (p.Cys909=)
c.3299G= (p.Cys1100=)
n.16329G=
c.16313G= (p.Cys5438=)
c.16235G= (p.Cys5412=)
c.13619G= (p.Cys4540=)
c.16337G= (p.Cys5446=)
c.16334G= (p.Cys5445=)
c.16256G= (p.Cys5419=)
c.16241G= (p.Cys5414=)
c.16157G= (p.Cys5386=)
c.9455G= (p.Cys3152=)
c.9434G= (p.Cys3145=)
n.16332G=
5g.90823544G>TCA360425672ADGRV1c.16316G>T (p.Cys5439Phe)
c.5270G>T (p.Cys1757Phe)
n.3583G>T
c.265+147335G>T (n.265+147335G>T)
n.128+1362G>T
c.2726G>T (p.Cys909Phe)
c.3299G>T (p.Cys1100Phe)
n.16329G>T
c.16313G>T (p.Cys5438Phe)
c.16235G>T (p.Cys5412Phe)
c.13619G>T (p.Cys4540Phe)
c.16337G>T (p.Cys5446Phe)
c.16334G>T (p.Cys5445Phe)
c.16256G>T (p.Cys5419Phe)
c.16241G>T (p.Cys5414Phe)
c.16157G>T (p.Cys5386Phe)
c.9455G>T (p.Cys3152Phe)
c.9434G>T (p.Cys3145Phe)
n.16332G>T
 dbSNP
5g.90823545T>ACA360425674ADGRV1c.16317T>A (p.Cys5439Ter)
c.5271T>A (p.Cys1757Ter)
n.3584T>A
c.265+147336T>A (n.265+147336T>A)
n.128+1363T>A
c.2727T>A (p.Cys909Ter)
c.3300T>A (p.Cys1100Ter)
n.16330T>A
c.16314T>A (p.Cys5438Ter)
c.16236T>A (p.Cys5412Ter)
c.13620T>A (p.Cys4540Ter)
c.16338T>A (p.Cys5446Ter)
c.16335T>A (p.Cys5445Ter)
c.16257T>A (p.Cys5419Ter)
c.16242T>A (p.Cys5414Ter)
c.16158T>A (p.Cys5386Ter)
c.9456T>A (p.Cys3152Ter)
c.9435T>A (p.Cys3145Ter)
n.16333T>A
5g.90823545T>CCA445436595ADGRV1c.16317T>C (p.Cys5439=)
c.5271T>C (p.Cys1757=)
n.3584T>C
c.265+147336T>C (n.265+147336T>C)
n.128+1363T>C
c.2727T>C (p.Cys909=)
c.3300T>C (p.Cys1100=)
n.16330T>C
c.16314T>C (p.Cys5438=)
c.16236T>C (p.Cys5412=)
c.13620T>C (p.Cys4540=)
c.16338T>C (p.Cys5446=)
c.16335T>C (p.Cys5445=)
c.16257T>C (p.Cys5419=)
c.16242T>C (p.Cys5414=)
c.16158T>C (p.Cys5386=)
c.9456T>C (p.Cys3152=)
c.9435T>C (p.Cys3145=)
n.16333T>C
 dbSNP gnomAD v3 gnomAD v4
5g.90823545T>GCA360425675ADGRV1c.16317T>G (p.Cys5439Trp)
c.5271T>G (p.Cys1757Trp)
n.3584T>G
c.265+147336T>G (n.265+147336T>G)
n.128+1363T>G
c.2727T>G (p.Cys909Trp)
c.3300T>G (p.Cys1100Trp)
n.16330T>G
c.16314T>G (p.Cys5438Trp)
c.16236T>G (p.Cys5412Trp)
c.13620T>G (p.Cys4540Trp)
c.16338T>G (p.Cys5446Trp)
c.16335T>G (p.Cys5445Trp)
c.16257T>G (p.Cys5419Trp)
c.16242T>G (p.Cys5414Trp)
c.16158T>G (p.Cys5386Trp)
c.9456T>G (p.Cys3152Trp)
c.9435T>G (p.Cys3145Trp)
n.16333T>G
5g.90823545T=CA1562918298ADGRV1c.16317T= (p.Cys5439=)
c.5271T= (p.Cys1757=)
n.3584T=
c.265+147336T= (n.265+147336T=)
n.128+1363T=
c.2727T= (p.Cys909=)
c.3300T= (p.Cys1100=)
n.16330T=
c.16314T= (p.Cys5438=)
c.16236T= (p.Cys5412=)
c.13620T= (p.Cys4540=)
c.16338T= (p.Cys5446=)
c.16335T= (p.Cys5445=)
c.16257T= (p.Cys5419=)
c.16242T= (p.Cys5414=)
c.16158T= (p.Cys5386=)
c.9456T= (p.Cys3152=)
c.9435T= (p.Cys3145=)
n.16333T=
5g.90823546A=CA1562918299ADGRV1c.16318A= (p.Thr5440=)
c.5272A= (p.Thr1758=)
n.3585A=
c.265+147337A= (n.265+147337A=)
n.128+1364A=
c.2728A= (p.Thr910=)
c.3301A= (p.Thr1101=)
n.16331A=
c.16315A= (p.Thr5439=)
c.16237A= (p.Thr5413=)
c.13621A= (p.Thr4541=)
c.16339A= (p.Thr5447=)
c.16336A= (p.Thr5446=)
c.16258A= (p.Thr5420=)
c.16243A= (p.Thr5415=)
c.16159A= (p.Thr5387=)
c.9457A= (p.Thr3153=)
c.9436A= (p.Thr3146=)
n.16334A=
5g.90823546A>CCA360425676ADGRV1c.16318A>C (p.Thr5440Pro)
c.5272A>C (p.Thr1758Pro)
n.3585A>C
c.265+147337A>C (n.265+147337A>C)
n.128+1364A>C
c.2728A>C (p.Thr910Pro)
c.3301A>C (p.Thr1101Pro)
n.16331A>C
c.16315A>C (p.Thr5439Pro)
c.16237A>C (p.Thr5413Pro)
c.13621A>C (p.Thr4541Pro)
c.16339A>C (p.Thr5447Pro)
c.16336A>C (p.Thr5446Pro)
c.16258A>C (p.Thr5420Pro)
c.16243A>C (p.Thr5415Pro)
c.16159A>C (p.Thr5387Pro)
c.9457A>C (p.Thr3153Pro)
c.9436A>C (p.Thr3146Pro)
n.16334A>C
5g.90823546A>GCA360425677ADGRV1c.16318A>G (p.Thr5440Ala)
c.5272A>G (p.Thr1758Ala)
n.3585A>G
c.265+147337A>G (n.265+147337A>G)
n.128+1364A>G
c.2728A>G (p.Thr910Ala)
c.3301A>G (p.Thr1101Ala)
n.16331A>G
c.16315A>G (p.Thr5439Ala)
c.16237A>G (p.Thr5413Ala)
c.13621A>G (p.Thr4541Ala)
c.16339A>G (p.Thr5447Ala)
c.16336A>G (p.Thr5446Ala)
c.16258A>G (p.Thr5420Ala)
c.16243A>G (p.Thr5415Ala)
c.16159A>G (p.Thr5387Ala)
c.9457A>G (p.Thr3153Ala)
c.9436A>G (p.Thr3146Ala)
n.16334A>G
5g.90823546A>TCA360425678ADGRV1c.16318A>T (p.Thr5440Ser)
c.5272A>T (p.Thr1758Ser)
n.3585A>T
c.265+147337A>T (n.265+147337A>T)
n.128+1364A>T
c.2728A>T (p.Thr910Ser)
c.3301A>T (p.Thr1101Ser)
n.16331A>T
c.16315A>T (p.Thr5439Ser)
c.16237A>T (p.Thr5413Ser)
c.13621A>T (p.Thr4541Ser)
c.16339A>T (p.Thr5447Ser)
c.16336A>T (p.Thr5446Ser)
c.16258A>T (p.Thr5420Ser)
c.16243A>T (p.Thr5415Ser)
c.16159A>T (p.Thr5387Ser)
c.9457A>T (p.Thr3153Ser)
c.9436A>T (p.Thr3146Ser)
n.16334A>T
 dbSNP
5g.90823547C>ACA360425679ADGRV1c.16319C>A (p.Thr5440Lys)
c.5273C>A (p.Thr1758Lys)
n.3586C>A
c.265+147338C>A (n.265+147338C>A)
n.128+1365C>A
c.2729C>A (p.Thr910Lys)
c.3302C>A (p.Thr1101Lys)
n.16332C>A
c.16316C>A (p.Thr5439Lys)
c.16238C>A (p.Thr5413Lys)
c.13622C>A (p.Thr4541Lys)
c.16340C>A (p.Thr5447Lys)
c.16337C>A (p.Thr5446Lys)
c.16259C>A (p.Thr5420Lys)
c.16244C>A (p.Thr5415Lys)
c.16160C>A (p.Thr5387Lys)
c.9458C>A (p.Thr3153Lys)
c.9437C>A (p.Thr3146Lys)
n.16335C>A
 ClinVar dbSNP gnomAD v4
5g.90823547C=CA1562918300ADGRV1c.16319C= (p.Thr5440=)
c.5273C= (p.Thr1758=)
n.3586C=
c.265+147338C= (n.265+147338C=)
n.128+1365C=
c.2729C= (p.Thr910=)
c.3302C= (p.Thr1101=)
n.16332C=
c.16316C= (p.Thr5439=)
c.16238C= (p.Thr5413=)
c.13622C= (p.Thr4541=)
c.16340C= (p.Thr5447=)
c.16337C= (p.Thr5446=)
c.16259C= (p.Thr5420=)
c.16244C= (p.Thr5415=)
c.16160C= (p.Thr5387=)
c.9458C= (p.Thr3153=)
c.9437C= (p.Thr3146=)
n.16335C=
5g.90823547C>GCA360425680ADGRV1c.16319C>G (p.Thr5440Arg)
c.5273C>G (p.Thr1758Arg)
n.3586C>G
c.265+147338C>G (n.265+147338C>G)
n.128+1365C>G
c.2729C>G (p.Thr910Arg)
c.3302C>G (p.Thr1101Arg)
n.16332C>G
c.16316C>G (p.Thr5439Arg)
c.16238C>G (p.Thr5413Arg)
c.13622C>G (p.Thr4541Arg)
c.16340C>G (p.Thr5447Arg)
c.16337C>G (p.Thr5446Arg)
c.16259C>G (p.Thr5420Arg)
c.16244C>G (p.Thr5415Arg)
c.16160C>G (p.Thr5387Arg)
c.9458C>G (p.Thr3153Arg)
c.9437C>G (p.Thr3146Arg)
n.16335C>G
5g.90823547C>TCA360425681ADGRV1c.16319C>T (p.Thr5440Ile)
c.5273C>T (p.Thr1758Ile)
n.3586C>T
c.265+147338C>T (n.265+147338C>T)
n.128+1365C>T
c.2729C>T (p.Thr910Ile)
c.3302C>T (p.Thr1101Ile)
n.16332C>T
c.16316C>T (p.Thr5439Ile)
c.16238C>T (p.Thr5413Ile)
c.13622C>T (p.Thr4541Ile)
c.16340C>T (p.Thr5447Ile)
c.16337C>T (p.Thr5446Ile)
c.16259C>T (p.Thr5420Ile)
c.16244C>T (p.Thr5415Ile)
c.16160C>T (p.Thr5387Ile)
c.9458C>T (p.Thr3153Ile)
c.9437C>T (p.Thr3146Ile)
n.16335C>T
 dbSNP gnomAD v4
5g.90823548A=CA1562918301ADGRV1c.16320A= (p.Thr5440=)
c.5274A= (p.Thr1758=)
n.3587A=
c.265+147339A= (n.265+147339A=)
n.128+1366A=
c.2730A= (p.Thr910=)
c.3303A= (p.Thr1101=)
n.16333A=
c.16317A= (p.Thr5439=)
c.16239A= (p.Thr5413=)
c.13623A= (p.Thr4541=)
c.16341A= (p.Thr5447=)
c.16338A= (p.Thr5446=)
c.16260A= (p.Thr5420=)
c.16245A= (p.Thr5415=)
c.16161A= (p.Thr5387=)
c.9459A= (p.Thr3153=)
c.9438A= (p.Thr3146=)
n.16336A=
5g.90823548A>CCA445436596ADGRV1c.16320A>C (p.Thr5440=)
c.5274A>C (p.Thr1758=)
n.3587A>C
c.265+147339A>C (n.265+147339A>C)
n.128+1366A>C
c.2730A>C (p.Thr910=)
c.3303A>C (p.Thr1101=)
n.16333A>C
c.16317A>C (p.Thr5439=)
c.16239A>C (p.Thr5413=)
c.13623A>C (p.Thr4541=)
c.16341A>C (p.Thr5447=)
c.16338A>C (p.Thr5446=)
c.16260A>C (p.Thr5420=)
c.16245A>C (p.Thr5415=)
c.16161A>C (p.Thr5387=)
c.9459A>C (p.Thr3153=)
c.9438A>C (p.Thr3146=)
n.16336A>C
5g.90823548A>GCA445436597ADGRV1c.16320A>G (p.Thr5440=)
c.5274A>G (p.Thr1758=)
n.3587A>G
c.265+147339A>G (n.265+147339A>G)
n.128+1366A>G
c.2730A>G (p.Thr910=)
c.3303A>G (p.Thr1101=)
n.16333A>G
c.16317A>G (p.Thr5439=)
c.16239A>G (p.Thr5413=)
c.13623A>G (p.Thr4541=)
c.16341A>G (p.Thr5447=)
c.16338A>G (p.Thr5446=)
c.16260A>G (p.Thr5420=)
c.16245A>G (p.Thr5415=)
c.16161A>G (p.Thr5387=)
c.9459A>G (p.Thr3153=)
c.9438A>G (p.Thr3146=)
n.16336A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.90823548A>TCA445436598ADGRV1c.16320A>T (p.Thr5440=)
c.5274A>T (p.Thr1758=)
n.3587A>T
c.265+147339A>T (n.265+147339A>T)
n.128+1366A>T
c.2730A>T (p.Thr910=)
c.3303A>T (p.Thr1101=)
n.16333A>T
c.16317A>T (p.Thr5439=)
c.16239A>T (p.Thr5413=)
c.13623A>T (p.Thr4541=)
c.16341A>T (p.Thr5447=)
c.16338A>T (p.Thr5446=)
c.16260A>T (p.Thr5420=)
c.16245A>T (p.Thr5415=)
c.16161A>T (p.Thr5387=)
c.9459A>T (p.Thr3153=)
c.9438A>T (p.Thr3146=)
n.16336A>T
5g.90823549A=CA1562918302ADGRV1c.16321A= (p.Met5441=)
c.5275A= (p.Met1759=)
n.3588A=
c.265+147340A= (n.265+147340A=)
n.128+1367A=
c.2731A= (p.Met911=)
c.3304A= (p.Met1102=)
n.16334A=
c.16318A= (p.Met5440=)
c.16240A= (p.Met5414=)
c.13624A= (p.Met4542=)
c.16342A= (p.Met5448=)
c.16339A= (p.Met5447=)
c.16261A= (p.Met5421=)
c.16246A= (p.Met5416=)
c.16162A= (p.Met5388=)
c.9460A= (p.Met3154=)
c.9439A= (p.Met3147=)
n.16337A=
5g.90823549A>CCA360425682ADGRV1c.16321A>C (p.Met5441Leu)
c.5275A>C (p.Met1759Leu)
n.3588A>C
c.265+147340A>C (n.265+147340A>C)
n.128+1367A>C
c.2731A>C (p.Met911Leu)
c.3304A>C (p.Met1102Leu)
n.16334A>C
c.16318A>C (p.Met5440Leu)
c.16240A>C (p.Met5414Leu)
c.13624A>C (p.Met4542Leu)
c.16342A>C (p.Met5448Leu)
c.16339A>C (p.Met5447Leu)
c.16261A>C (p.Met5421Leu)
c.16246A>C (p.Met5416Leu)
c.16162A>C (p.Met5388Leu)
c.9460A>C (p.Met3154Leu)
c.9439A>C (p.Met3147Leu)
n.16337A>C
5g.90823549A>GCA360425683ADGRV1c.16321A>G (p.Met5441Val)
c.5275A>G (p.Met1759Val)
n.3588A>G
c.265+147340A>G (n.265+147340A>G)
n.128+1367A>G
c.2731A>G (p.Met911Val)
c.3304A>G (p.Met1102Val)
n.16334A>G
c.16318A>G (p.Met5440Val)
c.16240A>G (p.Met5414Val)
c.13624A>G (p.Met4542Val)
c.16342A>G (p.Met5448Val)
c.16339A>G (p.Met5447Val)
c.16261A>G (p.Met5421Val)
c.16246A>G (p.Met5416Val)
c.16162A>G (p.Met5388Val)
c.9460A>G (p.Met3154Val)
c.9439A>G (p.Met3147Val)
n.16337A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.90823549A>TCA360425684ADGRV1c.16321A>T (p.Met5441Leu)
c.5275A>T (p.Met1759Leu)
n.3588A>T
c.265+147340A>T (n.265+147340A>T)
n.128+1367A>T
c.2731A>T (p.Met911Leu)
c.3304A>T (p.Met1102Leu)
n.16334A>T
c.16318A>T (p.Met5440Leu)
c.16240A>T (p.Met5414Leu)
c.13624A>T (p.Met4542Leu)
c.16342A>T (p.Met5448Leu)
c.16339A>T (p.Met5447Leu)
c.16261A>T (p.Met5421Leu)
c.16246A>T (p.Met5416Leu)
c.16162A>T (p.Met5388Leu)
c.9460A>T (p.Met3154Leu)
c.9439A>T (p.Met3147Leu)
n.16337A>T
5g.90823550T>ACA360425687ADGRV1c.16322T>A (p.Met5441Lys)
c.5276T>A (p.Met1759Lys)
n.3589T>A
c.265+147341T>A (n.265+147341T>A)
n.128+1368T>A
c.2732T>A (p.Met911Lys)
c.3305T>A (p.Met1102Lys)
n.16335T>A
c.16319T>A (p.Met5440Lys)
c.16241T>A (p.Met5414Lys)
c.13625T>A (p.Met4542Lys)
c.16343T>A (p.Met5448Lys)
c.16340T>A (p.Met5447Lys)
c.16262T>A (p.Met5421Lys)
c.16247T>A (p.Met5416Lys)
c.16163T>A (p.Met5388Lys)
c.9461T>A (p.Met3154Lys)
c.9440T>A (p.Met3147Lys)
n.16338T>A
5g.90823550T>CCA360425686ADGRV1c.16322T>C (p.Met5441Thr)
c.5276T>C (p.Met1759Thr)
n.3589T>C
c.265+147341T>C (n.265+147341T>C)
n.128+1368T>C
c.2732T>C (p.Met911Thr)
c.3305T>C (p.Met1102Thr)
n.16335T>C
c.16319T>C (p.Met5440Thr)
c.16241T>C (p.Met5414Thr)
c.13625T>C (p.Met4542Thr)
c.16343T>C (p.Met5448Thr)
c.16340T>C (p.Met5447Thr)
c.16262T>C (p.Met5421Thr)
c.16247T>C (p.Met5416Thr)
c.16163T>C (p.Met5388Thr)
c.9461T>C (p.Met3154Thr)
c.9440T>C (p.Met3147Thr)
n.16338T>C
5g.90823550T>GCA360425685ADGRV1c.16322T>G (p.Met5441Arg)
c.5276T>G (p.Met1759Arg)
n.3589T>G
c.265+147341T>G (n.265+147341T>G)
n.128+1368T>G
c.2732T>G (p.Met911Arg)
c.3305T>G (p.Met1102Arg)
n.16335T>G
c.16319T>G (p.Met5440Arg)
c.16241T>G (p.Met5414Arg)
c.13625T>G (p.Met4542Arg)
c.16343T>G (p.Met5448Arg)
c.16340T>G (p.Met5447Arg)
c.16262T>G (p.Met5421Arg)
c.16247T>G (p.Met5416Arg)
c.16163T>G (p.Met5388Arg)
c.9461T>G (p.Met3154Arg)
c.9440T>G (p.Met3147Arg)
n.16338T>G
 gnomAD v4
5g.90823551G>ACA360425688ADGRV1c.16323G>A (p.Met5441Ile)
c.5277G>A (p.Met1759Ile)
n.3590G>A
c.265+147342G>A (n.265+147342G>A)
n.128+1369G>A
c.2733G>A (p.Met911Ile)
c.3306G>A (p.Met1102Ile)
n.16336G>A
c.16320G>A (p.Met5440Ile)
c.16242G>A (p.Met5414Ile)
c.13626G>A (p.Met4542Ile)
c.16344G>A (p.Met5448Ile)
c.16341G>A (p.Met5447Ile)
c.16263G>A (p.Met5421Ile)
c.16248G>A (p.Met5416Ile)
c.16164G>A (p.Met5388Ile)
c.9462G>A (p.Met3154Ile)
c.9441G>A (p.Met3147Ile)
n.16339G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.90823551G>CCA360425689ADGRV1c.16323G>C (p.Met5441Ile)
c.5277G>C (p.Met1759Ile)
n.3590G>C
c.265+147342G>C (n.265+147342G>C)
n.128+1369G>C
c.2733G>C (p.Met911Ile)
c.3306G>C (p.Met1102Ile)
n.16336G>C
c.16320G>C (p.Met5440Ile)
c.16242G>C (p.Met5414Ile)
c.13626G>C (p.Met4542Ile)
c.16344G>C (p.Met5448Ile)
c.16341G>C (p.Met5447Ile)
c.16263G>C (p.Met5421Ile)
c.16248G>C (p.Met5416Ile)
c.16164G>C (p.Met5388Ile)
c.9462G>C (p.Met3154Ile)
c.9441G>C (p.Met3147Ile)
n.16339G>C
5g.90823551G=CA1562918303ADGRV1c.16323G= (p.Met5441=)
c.5277G= (p.Met1759=)
n.3590G=
c.265+147342G= (n.265+147342G=)
n.128+1369G=
c.2733G= (p.Met911=)
c.3306G= (p.Met1102=)
n.16336G=
c.16320G= (p.Met5440=)
c.16242G= (p.Met5414=)
c.13626G= (p.Met4542=)
c.16344G= (p.Met5448=)
c.16341G= (p.Met5447=)
c.16263G= (p.Met5421=)
c.16248G= (p.Met5416=)
c.16164G= (p.Met5388=)
c.9462G= (p.Met3154=)
c.9441G= (p.Met3147=)
n.16339G=
5g.90823551G>TCA360425690ADGRV1c.16323G>T (p.Met5441Ile)
c.5277G>T (p.Met1759Ile)
n.3590G>T
c.265+147342G>T (n.265+147342G>T)
n.128+1369G>T
c.2733G>T (p.Met911Ile)
c.3306G>T (p.Met1102Ile)
n.16336G>T
c.16320G>T (p.Met5440Ile)
c.16242G>T (p.Met5414Ile)
c.13626G>T (p.Met4542Ile)
c.16344G>T (p.Met5448Ile)
c.16341G>T (p.Met5447Ile)
c.16263G>T (p.Met5421Ile)
c.16248G>T (p.Met5416Ile)
c.16164G>T (p.Met5388Ile)
c.9462G>T (p.Met3154Ile)
c.9441G>T (p.Met3147Ile)
n.16339G>T
 dbSNP gnomAD v3 gnomAD v4 COSMIC
5g.90823552G>ACA3342115ADGRV1c.16324G>A (p.Gly5442Ser)
c.5278G>A (p.Gly1760Ser)
n.3591G>A
c.265+147343G>A (n.265+147343G>A)
n.128+1370G>A
c.2734G>A (p.Gly912Ser)
c.3307G>A (p.Gly1103Ser)
n.16337G>A
c.16321G>A (p.Gly5441Ser)
c.16243G>A (p.Gly5415Ser)
c.13627G>A (p.Gly4543Ser)
c.16345G>A (p.Gly5449Ser)
c.16342G>A (p.Gly5448Ser)
c.16264G>A (p.Gly5422Ser)
c.16249G>A (p.Gly5417Ser)
c.16165G>A (p.Gly5389Ser)
c.9463G>A (p.Gly3155Ser)
c.9442G>A (p.Gly3148Ser)
n.16340G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90823552G>CCA360425691ADGRV1c.16324G>C (p.Gly5442Arg)
c.5278G>C (p.Gly1760Arg)
n.3591G>C
c.265+147343G>C (n.265+147343G>C)
n.128+1370G>C
c.2734G>C (p.Gly912Arg)
c.3307G>C (p.Gly1103Arg)
n.16337G>C
c.16321G>C (p.Gly5441Arg)
c.16243G>C (p.Gly5415Arg)
c.13627G>C (p.Gly4543Arg)
c.16345G>C (p.Gly5449Arg)
c.16342G>C (p.Gly5448Arg)
c.16264G>C (p.Gly5422Arg)
c.16249G>C (p.Gly5417Arg)
c.16165G>C (p.Gly5389Arg)
c.9463G>C (p.Gly3155Arg)
c.9442G>C (p.Gly3148Arg)
n.16340G>C
5g.90823552G=CA1562918304ADGRV1c.16324G= (p.Gly5442=)
c.5278G= (p.Gly1760=)
n.3591G=
c.265+147343G= (n.265+147343G=)
n.128+1370G=
c.2734G= (p.Gly912=)
c.3307G= (p.Gly1103=)
n.16337G=
c.16321G= (p.Gly5441=)
c.16243G= (p.Gly5415=)
c.13627G= (p.Gly4543=)
c.16345G= (p.Gly5449=)
c.16342G= (p.Gly5448=)
c.16264G= (p.Gly5422=)
c.16249G= (p.Gly5417=)
c.16165G= (p.Gly5389=)
c.9463G= (p.Gly3155=)
c.9442G= (p.Gly3148=)
n.16340G=
5g.90823552G>TCA360425692ADGRV1c.16324G>T (p.Gly5442Cys)
c.5278G>T (p.Gly1760Cys)
n.3591G>T
c.265+147343G>T (n.265+147343G>T)
n.128+1370G>T
c.2734G>T (p.Gly912Cys)
c.3307G>T (p.Gly1103Cys)
n.16337G>T
c.16321G>T (p.Gly5441Cys)
c.16243G>T (p.Gly5415Cys)
c.13627G>T (p.Gly4543Cys)
c.16345G>T (p.Gly5449Cys)
c.16342G>T (p.Gly5448Cys)
c.16264G>T (p.Gly5422Cys)
c.16249G>T (p.Gly5417Cys)
c.16165G>T (p.Gly5389Cys)
c.9463G>T (p.Gly3155Cys)
c.9442G>T (p.Gly3148Cys)
n.16340G>T
5g.90823553G>ACA3342116ADGRV1c.16325G>A (p.Gly5442Asp)
c.5279G>A (p.Gly1760Asp)
n.3592G>A
c.265+147344G>A (n.265+147344G>A)
n.128+1371G>A
c.2735G>A (p.Gly912Asp)
c.3308G>A (p.Gly1103Asp)
n.16338G>A
c.16322G>A (p.Gly5441Asp)
c.16244G>A (p.Gly5415Asp)
c.13628G>A (p.Gly4543Asp)
c.16346G>A (p.Gly5449Asp)
c.16343G>A (p.Gly5448Asp)
c.16265G>A (p.Gly5422Asp)
c.16250G>A (p.Gly5417Asp)
c.16166G>A (p.Gly5389Asp)
c.9464G>A (p.Gly3155Asp)
c.9443G>A (p.Gly3148Asp)
n.16341G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90823553G>CCA360425693ADGRV1c.16325G>C (p.Gly5442Ala)
c.5279G>C (p.Gly1760Ala)
n.3592G>C
c.265+147344G>C (n.265+147344G>C)
n.128+1371G>C
c.2735G>C (p.Gly912Ala)
c.3308G>C (p.Gly1103Ala)
n.16338G>C
c.16322G>C (p.Gly5441Ala)
c.16244G>C (p.Gly5415Ala)
c.13628G>C (p.Gly4543Ala)
c.16346G>C (p.Gly5449Ala)
c.16343G>C (p.Gly5448Ala)
c.16265G>C (p.Gly5422Ala)
c.16250G>C (p.Gly5417Ala)
c.16166G>C (p.Gly5389Ala)
c.9464G>C (p.Gly3155Ala)
c.9443G>C (p.Gly3148Ala)
n.16341G>C
5g.90823553G=CA1562918305ADGRV1c.16325G= (p.Gly5442=)
c.5279G= (p.Gly1760=)
n.3592G=
c.265+147344G= (n.265+147344G=)
n.128+1371G=
c.2735G= (p.Gly912=)
c.3308G= (p.Gly1103=)
n.16338G=
c.16322G= (p.Gly5441=)
c.16244G= (p.Gly5415=)
c.13628G= (p.Gly4543=)
c.16346G= (p.Gly5449=)
c.16343G= (p.Gly5448=)
c.16265G= (p.Gly5422=)
c.16250G= (p.Gly5417=)
c.16166G= (p.Gly5389=)
c.9464G= (p.Gly3155=)
c.9443G= (p.Gly3148=)
n.16341G=
5g.90823553G>TCA360425694ADGRV1c.16325G>T (p.Gly5442Val)
c.5279G>T (p.Gly1760Val)
n.3592G>T
c.265+147344G>T (n.265+147344G>T)
n.128+1371G>T
c.2735G>T (p.Gly912Val)
c.3308G>T (p.Gly1103Val)
n.16338G>T
c.16322G>T (p.Gly5441Val)
c.16244G>T (p.Gly5415Val)
c.13628G>T (p.Gly4543Val)
c.16346G>T (p.Gly5449Val)
c.16343G>T (p.Gly5448Val)
c.16265G>T (p.Gly5422Val)
c.16250G>T (p.Gly5417Val)
c.16166G>T (p.Gly5389Val)
c.9464G>T (p.Gly3155Val)
c.9443G>T (p.Gly3148Val)
n.16341G>T
 gnomAD v4 COSMIC
5g.90823554T>ACA445436599ADGRV1c.16326T>A (p.Gly5442=)
c.5280T>A (p.Gly1760=)
n.3593T>A
c.265+147345T>A (n.265+147345T>A)
n.128+1372T>A
c.2736T>A (p.Gly912=)
c.3309T>A (p.Gly1103=)
n.16339T>A
c.16323T>A (p.Gly5441=)
c.16245T>A (p.Gly5415=)
c.13629T>A (p.Gly4543=)
c.16347T>A (p.Gly5449=)
c.16344T>A (p.Gly5448=)
c.16266T>A (p.Gly5422=)
c.16251T>A (p.Gly5417=)
c.16167T>A (p.Gly5389=)
c.9465T>A (p.Gly3155=)
c.9444T>A (p.Gly3148=)
n.16342T>A
5g.90823554T>CCA445436600ADGRV1c.16326T>C (p.Gly5442=)
c.5280T>C (p.Gly1760=)
n.3593T>C
c.265+147345T>C (n.265+147345T>C)
n.128+1372T>C
c.2736T>C (p.Gly912=)
c.3309T>C (p.Gly1103=)
n.16339T>C
c.16323T>C (p.Gly5441=)
c.16245T>C (p.Gly5415=)
c.13629T>C (p.Gly4543=)
c.16347T>C (p.Gly5449=)
c.16344T>C (p.Gly5448=)
c.16266T>C (p.Gly5422=)
c.16251T>C (p.Gly5417=)
c.16167T>C (p.Gly5389=)
c.9465T>C (p.Gly3155=)
c.9444T>C (p.Gly3148=)
n.16342T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.90823554T>GCA445436601ADGRV1c.16326T>G (p.Gly5442=)
c.5280T>G (p.Gly1760=)
n.3593T>G
c.265+147345T>G (n.265+147345T>G)
n.128+1372T>G
c.2736T>G (p.Gly912=)
c.3309T>G (p.Gly1103=)
n.16339T>G
c.16323T>G (p.Gly5441=)
c.16245T>G (p.Gly5415=)
c.13629T>G (p.Gly4543=)
c.16347T>G (p.Gly5449=)
c.16344T>G (p.Gly5448=)
c.16266T>G (p.Gly5422=)
c.16251T>G (p.Gly5417=)
c.16167T>G (p.Gly5389=)
c.9465T>G (p.Gly3155=)
c.9444T>G (p.Gly3148=)
n.16342T>G
5g.90823554T=CA1562918306ADGRV1c.16326T= (p.Gly5442=)
c.5280T= (p.Gly1760=)
n.3593T=
c.265+147345T= (n.265+147345T=)
n.128+1372T=
c.2736T= (p.Gly912=)
c.3309T= (p.Gly1103=)
n.16339T=
c.16323T= (p.Gly5441=)
c.16245T= (p.Gly5415=)
c.13629T= (p.Gly4543=)
c.16347T= (p.Gly5449=)
c.16344T= (p.Gly5448=)
c.16266T= (p.Gly5422=)
c.16251T= (p.Gly5417=)
c.16167T= (p.Gly5389=)
c.9465T= (p.Gly3155=)
c.9444T= (p.Gly3148=)
n.16342T=
5g.90823555C>ACA360425695ADGRV1c.16327C>A (p.Gln5443Lys)
c.5281C>A (p.Gln1761Lys)
n.3594C>A
c.265+147346C>A (n.265+147346C>A)
n.128+1373C>A
c.2737C>A (p.Gln913Lys)
c.3310C>A (p.Gln1104Lys)
n.16340C>A
c.16324C>A (p.Gln5442Lys)
c.16246C>A (p.Gln5416Lys)
c.13630C>A (p.Gln4544Lys)
c.16348C>A (p.Gln5450Lys)
c.16345C>A (p.Gln5449Lys)
c.16267C>A (p.Gln5423Lys)
c.16252C>A (p.Gln5418Lys)
c.16168C>A (p.Gln5390Lys)
c.9466C>A (p.Gln3156Lys)
c.9445C>A (p.Gln3149Lys)
n.16343C>A
5g.90823555C>GCA360425696ADGRV1c.16327C>G (p.Gln5443Glu)
c.5281C>G (p.Gln1761Glu)
n.3594C>G
c.265+147346C>G (n.265+147346C>G)
n.128+1373C>G
c.2737C>G (p.Gln913Glu)
c.3310C>G (p.Gln1104Glu)
n.16340C>G
c.16324C>G (p.Gln5442Glu)
c.16246C>G (p.Gln5416Glu)
c.13630C>G (p.Gln4544Glu)
c.16348C>G (p.Gln5450Glu)
c.16345C>G (p.Gln5449Glu)
c.16267C>G (p.Gln5423Glu)
c.16252C>G (p.Gln5418Glu)
c.16168C>G (p.Gln5390Glu)
c.9466C>G (p.Gln3156Glu)
c.9445C>G (p.Gln3149Glu)
n.16343C>G
5g.90823555C>TCA360425697ADGRV1c.16327C>T (p.Gln5443Ter)
c.5281C>T (p.Gln1761Ter)
n.3594C>T
c.265+147346C>T (n.265+147346C>T)
n.128+1373C>T
c.2737C>T (p.Gln913Ter)
c.3310C>T (p.Gln1104Ter)
n.16340C>T
c.16324C>T (p.Gln5442Ter)
c.16246C>T (p.Gln5416Ter)
c.13630C>T (p.Gln4544Ter)
c.16348C>T (p.Gln5450Ter)
c.16345C>T (p.Gln5449Ter)
c.16267C>T (p.Gln5423Ter)
c.16252C>T (p.Gln5418Ter)
c.16168C>T (p.Gln5390Ter)
c.9466C>T (p.Gln3156Ter)
c.9445C>T (p.Gln3149Ter)
n.16343C>T
5g.90823556A>CCA360425700ADGRV1c.16328A>C (p.Gln5443Pro)
c.5282A>C (p.Gln1761Pro)
n.3595A>C
c.265+147347A>C (n.265+147347A>C)
n.128+1374A>C
c.2738A>C (p.Gln913Pro)
c.3311A>C (p.Gln1104Pro)
n.16341A>C
c.16325A>C (p.Gln5442Pro)
c.16247A>C (p.Gln5416Pro)
c.13631A>C (p.Gln4544Pro)
c.16349A>C (p.Gln5450Pro)
c.16346A>C (p.Gln5449Pro)
c.16268A>C (p.Gln5423Pro)
c.16253A>C (p.Gln5418Pro)
c.16169A>C (p.Gln5390Pro)
c.9467A>C (p.Gln3156Pro)
c.9446A>C (p.Gln3149Pro)
n.16344A>C
5g.90823556A>GCA360425699ADGRV1c.16328A>G (p.Gln5443Arg)
c.5282A>G (p.Gln1761Arg)
n.3595A>G
c.265+147347A>G (n.265+147347A>G)
n.128+1374A>G
c.2738A>G (p.Gln913Arg)
c.3311A>G (p.Gln1104Arg)
n.16341A>G
c.16325A>G (p.Gln5442Arg)
c.16247A>G (p.Gln5416Arg)
c.13631A>G (p.Gln4544Arg)
c.16349A>G (p.Gln5450Arg)
c.16346A>G (p.Gln5449Arg)
c.16268A>G (p.Gln5423Arg)
c.16253A>G (p.Gln5418Arg)
c.16169A>G (p.Gln5390Arg)
c.9467A>G (p.Gln3156Arg)
c.9446A>G (p.Gln3149Arg)
n.16344A>G
5g.90823556A>TCA360425698ADGRV1c.16328A>T (p.Gln5443Leu)
c.5282A>T (p.Gln1761Leu)
n.3595A>T
c.265+147347A>T (n.265+147347A>T)
n.128+1374A>T
c.2738A>T (p.Gln913Leu)
c.3311A>T (p.Gln1104Leu)
n.16341A>T
c.16325A>T (p.Gln5442Leu)
c.16247A>T (p.Gln5416Leu)
c.13631A>T (p.Gln4544Leu)
c.16349A>T (p.Gln5450Leu)
c.16346A>T (p.Gln5449Leu)
c.16268A>T (p.Gln5423Leu)
c.16253A>T (p.Gln5418Leu)
c.16169A>T (p.Gln5390Leu)
c.9467A>T (p.Gln3156Leu)
c.9446A>T (p.Gln3149Leu)
n.16344A>T
5g.90823557A=CA1562918307ADGRV1c.16329A= (p.Gln5443=)
c.5283A= (p.Gln1761=)
n.3596A=
c.265+147348A= (n.265+147348A=)
n.128+1375A=
c.2739A= (p.Gln913=)
c.3312A= (p.Gln1104=)
n.16342A=
c.16326A= (p.Gln5442=)
c.16248A= (p.Gln5416=)
c.13632A= (p.Gln4544=)
c.16350A= (p.Gln5450=)
c.16347A= (p.Gln5449=)
c.16269A= (p.Gln5423=)
c.16254A= (p.Gln5418=)
c.16170A= (p.Gln5390=)
c.9468A= (p.Gln3156=)
c.9447A= (p.Gln3149=)
n.16345A=
5g.90823557A>CCA360425701ADGRV1c.16329A>C (p.Gln5443His)
c.5283A>C (p.Gln1761His)
n.3596A>C
c.265+147348A>C (n.265+147348A>C)
n.128+1375A>C
c.2739A>C (p.Gln913His)
c.3312A>C (p.Gln1104His)
n.16342A>C
c.16326A>C (p.Gln5442His)
c.16248A>C (p.Gln5416His)
c.13632A>C (p.Gln4544His)
c.16350A>C (p.Gln5450His)
c.16347A>C (p.Gln5449His)
c.16269A>C (p.Gln5423His)
c.16254A>C (p.Gln5418His)
c.16170A>C (p.Gln5390His)
c.9468A>C (p.Gln3156His)
c.9447A>C (p.Gln3149His)
n.16345A>C
5g.90823557A>GCA445436602ADGRV1c.16329A>G (p.Gln5443=)
c.5283A>G (p.Gln1761=)
n.3596A>G
c.265+147348A>G (n.265+147348A>G)
n.128+1375A>G
c.2739A>G (p.Gln913=)
c.3312A>G (p.Gln1104=)
n.16342A>G
c.16326A>G (p.Gln5442=)
c.16248A>G (p.Gln5416=)
c.13632A>G (p.Gln4544=)
c.16350A>G (p.Gln5450=)
c.16347A>G (p.Gln5449=)
c.16269A>G (p.Gln5423=)
c.16254A>G (p.Gln5418=)
c.16170A>G (p.Gln5390=)
c.9468A>G (p.Gln3156=)
c.9447A>G (p.Gln3149=)
n.16345A>G
 dbSNP gnomAD v3 gnomAD v4
5g.90823557A>TCA360425702ADGRV1c.16329A>T (p.Gln5443His)
c.5283A>T (p.Gln1761His)
n.3596A>T
c.265+147348A>T (n.265+147348A>T)
n.128+1375A>T
c.2739A>T (p.Gln913His)
c.3312A>T (p.Gln1104His)
n.16342A>T
c.16326A>T (p.Gln5442His)
c.16248A>T (p.Gln5416His)
c.13632A>T (p.Gln4544His)
c.16350A>T (p.Gln5450His)
c.16347A>T (p.Gln5449His)
c.16269A>T (p.Gln5423His)
c.16254A>T (p.Gln5418His)
c.16170A>T (p.Gln5390His)
c.9468A>T (p.Gln3156His)
c.9447A>T (p.Gln3149His)
n.16345A>T
5g.90823558A=CA1562918308ADGRV1c.16330A= (p.Thr5444=)
c.5284A= (p.Thr1762=)
n.3597A=
c.265+147349A= (n.265+147349A=)
n.128+1376A=
c.2740A= (p.Thr914=)
c.3313A= (p.Thr1105=)
n.16343A=
c.16327A= (p.Thr5443=)
c.16249A= (p.Thr5417=)
c.13633A= (p.Thr4545=)
c.16351A= (p.Thr5451=)
c.16348A= (p.Thr5450=)
c.16270A= (p.Thr5424=)
c.16255A= (p.Thr5419=)
c.16171A= (p.Thr5391=)
c.9469A= (p.Thr3157=)
c.9448A= (p.Thr3150=)
n.16346A=
5g.90823558A>CCA360425703ADGRV1c.16330A>C (p.Thr5444Pro)
c.5284A>C (p.Thr1762Pro)
n.3597A>C
c.265+147349A>C (n.265+147349A>C)
n.128+1376A>C
c.2740A>C (p.Thr914Pro)
c.3313A>C (p.Thr1105Pro)
n.16343A>C
c.16327A>C (p.Thr5443Pro)
c.16249A>C (p.Thr5417Pro)
c.13633A>C (p.Thr4545Pro)
c.16351A>C (p.Thr5451Pro)
c.16348A>C (p.Thr5450Pro)
c.16270A>C (p.Thr5424Pro)
c.16255A>C (p.Thr5419Pro)
c.16171A>C (p.Thr5391Pro)
c.9469A>C (p.Thr3157Pro)
c.9448A>C (p.Thr3150Pro)
n.16346A>C
5g.90823558A>GCA360425705ADGRV1c.16330A>G (p.Thr5444Ala)
c.5284A>G (p.Thr1762Ala)
n.3597A>G
c.265+147349A>G (n.265+147349A>G)
n.128+1376A>G
c.2740A>G (p.Thr914Ala)
c.3313A>G (p.Thr1105Ala)
n.16343A>G
c.16327A>G (p.Thr5443Ala)
c.16249A>G (p.Thr5417Ala)
c.13633A>G (p.Thr4545Ala)
c.16351A>G (p.Thr5451Ala)
c.16348A>G (p.Thr5450Ala)
c.16270A>G (p.Thr5424Ala)
c.16255A>G (p.Thr5419Ala)
c.16171A>G (p.Thr5391Ala)
c.9469A>G (p.Thr3157Ala)
c.9448A>G (p.Thr3150Ala)
n.16346A>G
 ClinVar dbSNP gnomAD v4
5g.90823558A>TCA360425704ADGRV1c.16330A>T (p.Thr5444Ser)
c.5284A>T (p.Thr1762Ser)
n.3597A>T
c.265+147349A>T (n.265+147349A>T)
n.128+1376A>T
c.2740A>T (p.Thr914Ser)
c.3313A>T (p.Thr1105Ser)
n.16343A>T
c.16327A>T (p.Thr5443Ser)
c.16249A>T (p.Thr5417Ser)
c.13633A>T (p.Thr4545Ser)
c.16351A>T (p.Thr5451Ser)
c.16348A>T (p.Thr5450Ser)
c.16270A>T (p.Thr5424Ser)
c.16255A>T (p.Thr5419Ser)
c.16171A>T (p.Thr5391Ser)
c.9469A>T (p.Thr3157Ser)
c.9448A>T (p.Thr3150Ser)
n.16346A>T
5g.90823559C>ACA247452ADGRV1c.16331C>A (p.Thr5444Lys)
c.5285C>A (p.Thr1762Lys)
n.3598C>A
c.265+147350C>A (n.265+147350C>A)
n.128+1377C>A
c.2741C>A (p.Thr914Lys)
c.3314C>A (p.Thr1105Lys)
n.16344C>A
c.16328C>A (p.Thr5443Lys)
c.16250C>A (p.Thr5417Lys)
c.13634C>A (p.Thr4545Lys)
c.16352C>A (p.Thr5451Lys)
c.16349C>A (p.Thr5450Lys)
c.16271C>A (p.Thr5424Lys)
c.16256C>A (p.Thr5419Lys)
c.16172C>A (p.Thr5391Lys)
c.9470C>A (p.Thr3157Lys)
c.9449C>A (p.Thr3150Lys)
n.16347C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90823559C=CA1562918309ADGRV1c.16331C= (p.Thr5444=)
c.5285C= (p.Thr1762=)
n.3598C=
c.265+147350C= (n.265+147350C=)
n.128+1377C=
c.2741C= (p.Thr914=)
c.3314C= (p.Thr1105=)
n.16344C=
c.16328C= (p.Thr5443=)
c.16250C= (p.Thr5417=)
c.13634C= (p.Thr4545=)
c.16352C= (p.Thr5451=)
c.16349C= (p.Thr5450=)
c.16271C= (p.Thr5424=)
c.16256C= (p.Thr5419=)
c.16172C= (p.Thr5391=)
c.9470C= (p.Thr3157=)
c.9449C= (p.Thr3150=)
n.16347C=
5g.90823559C>GCA360425706ADGRV1c.16331C>G (p.Thr5444Arg)
c.5285C>G (p.Thr1762Arg)
n.3598C>G
c.265+147350C>G (n.265+147350C>G)
n.128+1377C>G
c.2741C>G (p.Thr914Arg)
c.3314C>G (p.Thr1105Arg)
n.16344C>G
c.16328C>G (p.Thr5443Arg)
c.16250C>G (p.Thr5417Arg)
c.13634C>G (p.Thr4545Arg)
c.16352C>G (p.Thr5451Arg)
c.16349C>G (p.Thr5450Arg)
c.16271C>G (p.Thr5424Arg)
c.16256C>G (p.Thr5419Arg)
c.16172C>G (p.Thr5391Arg)
c.9470C>G (p.Thr3157Arg)
c.9449C>G (p.Thr3150Arg)
n.16347C>G
5g.90823559C>TCA360425707ADGRV1c.16331C>T (p.Thr5444Ile)
c.5285C>T (p.Thr1762Ile)
n.3598C>T
c.265+147350C>T (n.265+147350C>T)
n.128+1377C>T
c.2741C>T (p.Thr914Ile)
c.3314C>T (p.Thr1105Ile)
n.16344C>T
c.16328C>T (p.Thr5443Ile)
c.16250C>T (p.Thr5417Ile)
c.13634C>T (p.Thr4545Ile)
c.16352C>T (p.Thr5451Ile)
c.16349C>T (p.Thr5450Ile)
c.16271C>T (p.Thr5424Ile)
c.16256C>T (p.Thr5419Ile)
c.16172C>T (p.Thr5391Ile)
c.9470C>T (p.Thr3157Ile)
c.9449C>T (p.Thr3150Ile)
n.16347C>T
5g.90823560A>CCA445436603ADGRV1c.16332A>C (p.Thr5444=)
c.5286A>C (p.Thr1762=)
n.3599A>C
c.265+147351A>C (n.265+147351A>C)
n.128+1378A>C
c.2742A>C (p.Thr914=)
c.3315A>C (p.Thr1105=)
n.16345A>C
c.16329A>C (p.Thr5443=)
c.16251A>C (p.Thr5417=)
c.13635A>C (p.Thr4545=)
c.16353A>C (p.Thr5451=)
c.16350A>C (p.Thr5450=)
c.16272A>C (p.Thr5424=)
c.16257A>C (p.Thr5419=)
c.16173A>C (p.Thr5391=)
c.9471A>C (p.Thr3157=)
c.9450A>C (p.Thr3150=)
n.16348A>C
5g.90823560A>GCA445436604ADGRV1c.16332A>G (p.Thr5444=)
c.5286A>G (p.Thr1762=)
n.3599A>G
c.265+147351A>G (n.265+147351A>G)
n.128+1378A>G
c.2742A>G (p.Thr914=)
c.3315A>G (p.Thr1105=)
n.16345A>G
c.16329A>G (p.Thr5443=)
c.16251A>G (p.Thr5417=)
c.13635A>G (p.Thr4545=)
c.16353A>G (p.Thr5451=)
c.16350A>G (p.Thr5450=)
c.16272A>G (p.Thr5424=)
c.16257A>G (p.Thr5419=)
c.16173A>G (p.Thr5391=)
c.9471A>G (p.Thr3157=)
c.9450A>G (p.Thr3150=)
n.16348A>G
 gnomAD v4
5g.90823560A>TCA445436605ADGRV1c.16332A>T (p.Thr5444=)
c.5286A>T (p.Thr1762=)
n.3599A>T
c.265+147351A>T (n.265+147351A>T)
n.128+1378A>T
c.2742A>T (p.Thr914=)
c.3315A>T (p.Thr1105=)
n.16345A>T
c.16329A>T (p.Thr5443=)
c.16251A>T (p.Thr5417=)
c.13635A>T (p.Thr4545=)
c.16353A>T (p.Thr5451=)
c.16350A>T (p.Thr5450=)
c.16272A>T (p.Thr5424=)
c.16257A>T (p.Thr5419=)
c.16173A>T (p.Thr5391=)
c.9471A>T (p.Thr3157=)
c.9450A>T (p.Thr3150=)
n.16348A>T
5g.90823561A=CA1562918310ADGRV1c.16333A= (p.Lys5445=)
c.5287A= (p.Lys1763=)
n.3600A=
c.265+147352A= (n.265+147352A=)
n.128+1379A=
c.2743A= (p.Lys915=)
c.3316A= (p.Lys1106=)
n.16346A=
c.16330A= (p.Lys5444=)
c.16252A= (p.Lys5418=)
c.13636A= (p.Lys4546=)
c.16354A= (p.Lys5452=)
c.16351A= (p.Lys5451=)
c.16273A= (p.Lys5425=)
c.16258A= (p.Lys5420=)
c.16174A= (p.Lys5392=)
c.9472A= (p.Lys3158=)
c.9451A= (p.Lys3151=)
n.16349A=
5g.90823561A>CCA360425708ADGRV1c.16333A>C (p.Lys5445Gln)
c.5287A>C (p.Lys1763Gln)
n.3600A>C
c.265+147352A>C (n.265+147352A>C)
n.128+1379A>C
c.2743A>C (p.Lys915Gln)
c.3316A>C (p.Lys1106Gln)
n.16346A>C
c.16330A>C (p.Lys5444Gln)
c.16252A>C (p.Lys5418Gln)
c.13636A>C (p.Lys4546Gln)
c.16354A>C (p.Lys5452Gln)
c.16351A>C (p.Lys5451Gln)
c.16273A>C (p.Lys5425Gln)
c.16258A>C (p.Lys5420Gln)
c.16174A>C (p.Lys5392Gln)
c.9472A>C (p.Lys3158Gln)
c.9451A>C (p.Lys3151Gln)
n.16349A>C
5g.90823561A>GCA360425709ADGRV1c.16333A>G (p.Lys5445Glu)
c.5287A>G (p.Lys1763Glu)
n.3600A>G
c.265+147352A>G (n.265+147352A>G)
n.128+1379A>G
c.2743A>G (p.Lys915Glu)
c.3316A>G (p.Lys1106Glu)
n.16346A>G
c.16330A>G (p.Lys5444Glu)
c.16252A>G (p.Lys5418Glu)
c.13636A>G (p.Lys4546Glu)
c.16354A>G (p.Lys5452Glu)
c.16351A>G (p.Lys5451Glu)
c.16273A>G (p.Lys5425Glu)
c.16258A>G (p.Lys5420Glu)
c.16174A>G (p.Lys5392Glu)
c.9472A>G (p.Lys3158Glu)
c.9451A>G (p.Lys3151Glu)
n.16349A>G
 dbSNP
5g.90823561A>TCA360425710ADGRV1c.16333A>T (p.Lys5445Ter)
c.5287A>T (p.Lys1763Ter)
n.3600A>T
c.265+147352A>T (n.265+147352A>T)
n.128+1379A>T
c.2743A>T (p.Lys915Ter)
c.3316A>T (p.Lys1106Ter)
n.16346A>T
c.16330A>T (p.Lys5444Ter)
c.16252A>T (p.Lys5418Ter)
c.13636A>T (p.Lys4546Ter)
c.16354A>T (p.Lys5452Ter)
c.16351A>T (p.Lys5451Ter)
c.16273A>T (p.Lys5425Ter)
c.16258A>T (p.Lys5420Ter)
c.16174A>T (p.Lys5392Ter)
c.9472A>T (p.Lys3158Ter)
c.9451A>T (p.Lys3151Ter)
n.16349A>T
5g.90823562A=CA1562918311ADGRV1c.16334A= (p.Lys5445=)
c.5288A= (p.Lys1763=)
n.3601A=
c.265+147353A= (n.265+147353A=)
n.128+1380A=
c.2744A= (p.Lys915=)
c.3317A= (p.Lys1106=)
n.16347A=
c.16331A= (p.Lys5444=)
c.16253A= (p.Lys5418=)
c.13637A= (p.Lys4546=)
c.16355A= (p.Lys5452=)
c.16352A= (p.Lys5451=)
c.16274A= (p.Lys5425=)
c.16259A= (p.Lys5420=)
c.16175A= (p.Lys5392=)
c.9473A= (p.Lys3158=)
c.9452A= (p.Lys3151=)
n.16350A=
5g.90823562A>CCA360425711ADGRV1c.16334A>C (p.Lys5445Thr)
c.5288A>C (p.Lys1763Thr)
n.3601A>C
c.265+147353A>C (n.265+147353A>C)
n.128+1380A>C
c.2744A>C (p.Lys915Thr)
c.3317A>C (p.Lys1106Thr)
n.16347A>C
c.16331A>C (p.Lys5444Thr)
c.16253A>C (p.Lys5418Thr)
c.13637A>C (p.Lys4546Thr)
c.16355A>C (p.Lys5452Thr)
c.16352A>C (p.Lys5451Thr)
c.16274A>C (p.Lys5425Thr)
c.16259A>C (p.Lys5420Thr)
c.16175A>C (p.Lys5392Thr)
c.9473A>C (p.Lys3158Thr)
c.9452A>C (p.Lys3151Thr)
n.16350A>C
 gnomAD v4
5g.90823562A>GCA360425712ADGRV1c.16334A>G (p.Lys5445Arg)
c.5288A>G (p.Lys1763Arg)
n.3601A>G
c.265+147353A>G (n.265+147353A>G)
n.128+1380A>G
c.2744A>G (p.Lys915Arg)
c.3317A>G (p.Lys1106Arg)
n.16347A>G
c.16331A>G (p.Lys5444Arg)
c.16253A>G (p.Lys5418Arg)
c.13637A>G (p.Lys4546Arg)
c.16355A>G (p.Lys5452Arg)
c.16352A>G (p.Lys5451Arg)
c.16274A>G (p.Lys5425Arg)
c.16259A>G (p.Lys5420Arg)
c.16175A>G (p.Lys5392Arg)
c.9473A>G (p.Lys3158Arg)
c.9452A>G (p.Lys3151Arg)
n.16350A>G
5g.90823562A>TCA360425713ADGRV1c.16334A>T (p.Lys5445Ile)
c.5288A>T (p.Lys1763Ile)
n.3601A>T
c.265+147353A>T (n.265+147353A>T)
n.128+1380A>T
c.2744A>T (p.Lys915Ile)
c.3317A>T (p.Lys1106Ile)
n.16347A>T
c.16331A>T (p.Lys5444Ile)
c.16253A>T (p.Lys5418Ile)
c.13637A>T (p.Lys4546Ile)
c.16355A>T (p.Lys5452Ile)
c.16352A>T (p.Lys5451Ile)
c.16274A>T (p.Lys5425Ile)
c.16259A>T (p.Lys5420Ile)
c.16175A>T (p.Lys5392Ile)
c.9473A>T (p.Lys3158Ile)
c.9452A>T (p.Lys3151Ile)
n.16350A>T
 dbSNP gnomAD v3 gnomAD v4
5g.90823563A>CCA360425714ADGRV1c.16335A>C (p.Lys5445Asn)
c.5289A>C (p.Lys1763Asn)
n.3602A>C
c.265+147354A>C (n.265+147354A>C)
n.128+1381A>C
c.2745A>C (p.Lys915Asn)
c.3318A>C (p.Lys1106Asn)
n.16348A>C
c.16332A>C (p.Lys5444Asn)
c.16254A>C (p.Lys5418Asn)
c.13638A>C (p.Lys4546Asn)
c.16356A>C (p.Lys5452Asn)
c.16353A>C (p.Lys5451Asn)
c.16275A>C (p.Lys5425Asn)
c.16260A>C (p.Lys5420Asn)
c.16176A>C (p.Lys5392Asn)
c.9474A>C (p.Lys3158Asn)
c.9453A>C (p.Lys3151Asn)
n.16351A>C
5g.90823563A>GCA445436606ADGRV1c.16335A>G (p.Lys5445=)
c.5289A>G (p.Lys1763=)
n.3602A>G
c.265+147354A>G (n.265+147354A>G)
n.128+1381A>G
c.2745A>G (p.Lys915=)
c.3318A>G (p.Lys1106=)
n.16348A>G
c.16332A>G (p.Lys5444=)
c.16254A>G (p.Lys5418=)
c.13638A>G (p.Lys4546=)
c.16356A>G (p.Lys5452=)
c.16353A>G (p.Lys5451=)
c.16275A>G (p.Lys5425=)
c.16260A>G (p.Lys5420=)
c.16176A>G (p.Lys5392=)
c.9474A>G (p.Lys3158=)
c.9453A>G (p.Lys3151=)
n.16351A>G
5g.90823563A>TCA360425715ADGRV1c.16335A>T (p.Lys5445Asn)
c.5289A>T (p.Lys1763Asn)
n.3602A>T
c.265+147354A>T (n.265+147354A>T)
n.128+1381A>T
c.2745A>T (p.Lys915Asn)
c.3318A>T (p.Lys1106Asn)
n.16348A>T
c.16332A>T (p.Lys5444Asn)
c.16254A>T (p.Lys5418Asn)
c.13638A>T (p.Lys4546Asn)
c.16356A>T (p.Lys5452Asn)
c.16353A>T (p.Lys5451Asn)
c.16275A>T (p.Lys5425Asn)
c.16260A>T (p.Lys5420Asn)
c.16176A>T (p.Lys5392Asn)
c.9474A>T (p.Lys3158Asn)
c.9453A>T (p.Lys3151Asn)
n.16351A>T
5g.90823564T>ACA360425718ADGRV1c.16336T>A (p.Cys5446Ser)
c.5290T>A (p.Cys1764Ser)
n.3603T>A
c.265+147355T>A (n.265+147355T>A)
n.128+1382T>A
c.2746T>A (p.Cys916Ser)
c.3319T>A (p.Cys1107Ser)
n.16349T>A
c.16333T>A (p.Cys5445Ser)
c.16255T>A (p.Cys5419Ser)
c.13639T>A (p.Cys4547Ser)
c.16357T>A (p.Cys5453Ser)
c.16354T>A (p.Cys5452Ser)
c.16276T>A (p.Cys5426Ser)
c.16261T>A (p.Cys5421Ser)
c.16177T>A (p.Cys5393Ser)
c.9475T>A (p.Cys3159Ser)
c.9454T>A (p.Cys3152Ser)
n.16352T>A
5g.90823564T>CCA360425716ADGRV1c.16336T>C (p.Cys5446Arg)
c.5290T>C (p.Cys1764Arg)
n.3603T>C
c.265+147355T>C (n.265+147355T>C)
n.128+1382T>C
c.2746T>C (p.Cys916Arg)
c.3319T>C (p.Cys1107Arg)
n.16349T>C
c.16333T>C (p.Cys5445Arg)
c.16255T>C (p.Cys5419Arg)
c.13639T>C (p.Cys4547Arg)
c.16357T>C (p.Cys5453Arg)
c.16354T>C (p.Cys5452Arg)
c.16276T>C (p.Cys5426Arg)
c.16261T>C (p.Cys5421Arg)
c.16177T>C (p.Cys5393Arg)
c.9475T>C (p.Cys3159Arg)
c.9454T>C (p.Cys3152Arg)
n.16352T>C
 dbSNP
5g.90823564T>GCA360425717ADGRV1c.16336T>G (p.Cys5446Gly)
c.5290T>G (p.Cys1764Gly)
n.3603T>G
c.265+147355T>G (n.265+147355T>G)
n.128+1382T>G
c.2746T>G (p.Cys916Gly)
c.3319T>G (p.Cys1107Gly)
n.16349T>G
c.16333T>G (p.Cys5445Gly)
c.16255T>G (p.Cys5419Gly)
c.13639T>G (p.Cys4547Gly)
c.16357T>G (p.Cys5453Gly)
c.16354T>G (p.Cys5452Gly)
c.16276T>G (p.Cys5426Gly)
c.16261T>G (p.Cys5421Gly)
c.16177T>G (p.Cys5393Gly)
c.9475T>G (p.Cys3159Gly)
c.9454T>G (p.Cys3152Gly)
n.16352T>G
5g.90823564T=CA1562918312ADGRV1c.16336T= (p.Cys5446=)
c.5290T= (p.Cys1764=)
n.3603T=
c.265+147355T= (n.265+147355T=)
n.128+1382T=
c.2746T= (p.Cys916=)
c.3319T= (p.Cys1107=)
n.16349T=
c.16333T= (p.Cys5445=)
c.16255T= (p.Cys5419=)
c.13639T= (p.Cys4547=)
c.16357T= (p.Cys5453=)
c.16354T= (p.Cys5452=)
c.16276T= (p.Cys5426=)
c.16261T= (p.Cys5421=)
c.16177T= (p.Cys5393=)
c.9475T= (p.Cys3159=)
c.9454T= (p.Cys3152=)
n.16352T=
5g.90823565G>ACA360425719ADGRV1c.16337G>A (p.Cys5446Tyr)
c.5291G>A (p.Cys1764Tyr)
n.3604G>A
c.265+147356G>A (n.265+147356G>A)
n.128+1383G>A
c.2747G>A (p.Cys916Tyr)
c.3320G>A (p.Cys1107Tyr)
n.16350G>A
c.16334G>A (p.Cys5445Tyr)
c.16256G>A (p.Cys5419Tyr)
c.13640G>A (p.Cys4547Tyr)
c.16358G>A (p.Cys5453Tyr)
c.16355G>A (p.Cys5452Tyr)
c.16277G>A (p.Cys5426Tyr)
c.16262G>A (p.Cys5421Tyr)
c.16178G>A (p.Cys5393Tyr)
c.9476G>A (p.Cys3159Tyr)
c.9455G>A (p.Cys3152Tyr)
n.16353G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.90823565G>CCA360425720ADGRV1c.16337G>C (p.Cys5446Ser)
c.5291G>C (p.Cys1764Ser)
n.3604G>C
c.265+147356G>C (n.265+147356G>C)
n.128+1383G>C
c.2747G>C (p.Cys916Ser)
c.3320G>C (p.Cys1107Ser)
n.16350G>C
c.16334G>C (p.Cys5445Ser)
c.16256G>C (p.Cys5419Ser)
c.13640G>C (p.Cys4547Ser)
c.16358G>C (p.Cys5453Ser)
c.16355G>C (p.Cys5452Ser)
c.16277G>C (p.Cys5426Ser)
c.16262G>C (p.Cys5421Ser)
c.16178G>C (p.Cys5393Ser)
c.9476G>C (p.Cys3159Ser)
c.9455G>C (p.Cys3152Ser)
n.16353G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.90823565G=CA1562918313ADGRV1c.16337G= (p.Cys5446=)
c.5291G= (p.Cys1764=)
n.3604G=
c.265+147356G= (n.265+147356G=)
n.128+1383G=
c.2747G= (p.Cys916=)
c.3320G= (p.Cys1107=)
n.16350G=
c.16334G= (p.Cys5445=)
c.16256G= (p.Cys5419=)
c.13640G= (p.Cys4547=)
c.16358G= (p.Cys5453=)
c.16355G= (p.Cys5452=)
c.16277G= (p.Cys5426=)
c.16262G= (p.Cys5421=)
c.16178G= (p.Cys5393=)
c.9476G= (p.Cys3159=)
c.9455G= (p.Cys3152=)
n.16353G=
5g.90823565G>TCA360425721ADGRV1c.16337G>T (p.Cys5446Phe)
c.5291G>T (p.Cys1764Phe)
n.3604G>T
c.265+147356G>T (n.265+147356G>T)
n.128+1383G>T
c.2747G>T (p.Cys916Phe)
c.3320G>T (p.Cys1107Phe)
n.16350G>T
c.16334G>T (p.Cys5445Phe)
c.16256G>T (p.Cys5419Phe)
c.13640G>T (p.Cys4547Phe)
c.16358G>T (p.Cys5453Phe)
c.16355G>T (p.Cys5452Phe)
c.16277G>T (p.Cys5426Phe)
c.16262G>T (p.Cys5421Phe)
c.16178G>T (p.Cys5393Phe)
c.9476G>T (p.Cys3159Phe)
c.9455G>T (p.Cys3152Phe)
n.16353G>T
 dbSNP gnomAD v2 gnomAD v4
5g.90823566C>ACA360425722ADGRV1c.16338C>A (p.Cys5446Ter)
c.5292C>A (p.Cys1764Ter)
n.3605C>A
c.265+147357C>A (n.265+147357C>A)
n.128+1384C>A
c.2748C>A (p.Cys916Ter)
c.3321C>A (p.Cys1107Ter)
n.16351C>A
c.16335C>A (p.Cys5445Ter)
c.16257C>A (p.Cys5419Ter)
c.13641C>A (p.Cys4547Ter)
c.16359C>A (p.Cys5453Ter)
c.16356C>A (p.Cys5452Ter)
c.16278C>A (p.Cys5426Ter)
c.16263C>A (p.Cys5421Ter)
c.16179C>A (p.Cys5393Ter)
c.9477C>A (p.Cys3159Ter)
c.9456C>A (p.Cys3152Ter)
n.16354C>A
5g.90823566C=CA1562918314ADGRV1c.16338C= (p.Cys5446=)
c.5292C= (p.Cys1764=)
n.3605C=
c.265+147357C= (n.265+147357C=)
n.128+1384C=
c.2748C= (p.Cys916=)
c.3321C= (p.Cys1107=)
n.16351C=
c.16335C= (p.Cys5445=)
c.16257C= (p.Cys5419=)
c.13641C= (p.Cys4547=)
c.16359C= (p.Cys5453=)
c.16356C= (p.Cys5452=)
c.16278C= (p.Cys5426=)
c.16263C= (p.Cys5421=)
c.16179C= (p.Cys5393=)
c.9477C= (p.Cys3159=)
c.9456C= (p.Cys3152=)
n.16354C=
5g.90823566C>GCA360425723ADGRV1c.16338C>G (p.Cys5446Trp)
c.5292C>G (p.Cys1764Trp)
n.3605C>G
c.265+147357C>G (n.265+147357C>G)
n.128+1384C>G
c.2748C>G (p.Cys916Trp)
c.3321C>G (p.Cys1107Trp)
n.16351C>G
c.16335C>G (p.Cys5445Trp)
c.16257C>G (p.Cys5419Trp)
c.13641C>G (p.Cys4547Trp)
c.16359C>G (p.Cys5453Trp)
c.16356C>G (p.Cys5452Trp)
c.16278C>G (p.Cys5426Trp)
c.16263C>G (p.Cys5421Trp)
c.16179C>G (p.Cys5393Trp)
c.9477C>G (p.Cys3159Trp)
c.9456C>G (p.Cys3152Trp)
n.16354C>G
5g.90823566C>TCA445436607ADGRV1c.16338C>T (p.Cys5446=)
c.5292C>T (p.Cys1764=)
n.3605C>T
c.265+147357C>T (n.265+147357C>T)
n.128+1384C>T
c.2748C>T (p.Cys916=)
c.3321C>T (p.Cys1107=)
n.16351C>T
c.16335C>T (p.Cys5445=)
c.16257C>T (p.Cys5419=)
c.13641C>T (p.Cys4547=)
c.16359C>T (p.Cys5453=)
c.16356C>T (p.Cys5452=)
c.16278C>T (p.Cys5426=)
c.16263C>T (p.Cys5421=)
c.16179C>T (p.Cys5393=)
c.9477C>T (p.Cys3159=)
c.9456C>T (p.Cys3152=)
n.16354C>T
 dbSNP
5g.90823567T>ACA360425724ADGRV1c.16339T>A (p.Phe5447Ile)
c.5293T>A (p.Phe1765Ile)
n.3606T>A
c.265+147358T>A (n.265+147358T>A)
n.128+1385T>A
c.2749T>A (p.Phe917Ile)
c.3322T>A (p.Phe1108Ile)
n.16352T>A
c.16336T>A (p.Phe5446Ile)
c.16258T>A (p.Phe5420Ile)
c.13642T>A (p.Phe4548Ile)
c.16360T>A (p.Phe5454Ile)
c.16357T>A (p.Phe5453Ile)
c.16279T>A (p.Phe5427Ile)
c.16264T>A (p.Phe5422Ile)
c.16180T>A (p.Phe5394Ile)
c.9478T>A (p.Phe3160Ile)
c.9457T>A (p.Phe3153Ile)
n.16355T>A
5g.90823567T>CCA3342117ADGRV1c.16339T>C (p.Phe5447Leu)
c.5293T>C (p.Phe1765Leu)
n.3606T>C
c.265+147358T>C (n.265+147358T>C)
n.128+1385T>C
c.2749T>C (p.Phe917Leu)
c.3322T>C (p.Phe1108Leu)
n.16352T>C
c.16336T>C (p.Phe5446Leu)
c.16258T>C (p.Phe5420Leu)
c.13642T>C (p.Phe4548Leu)
c.16360T>C (p.Phe5454Leu)
c.16357T>C (p.Phe5453Leu)
c.16279T>C (p.Phe5427Leu)
c.16264T>C (p.Phe5422Leu)
c.16180T>C (p.Phe5394Leu)
c.9478T>C (p.Phe3160Leu)
c.9457T>C (p.Phe3153Leu)
n.16355T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.90823567T>GCA360425725ADGRV1c.16339T>G (p.Phe5447Val)
c.5293T>G (p.Phe1765Val)
n.3606T>G
c.265+147358T>G (n.265+147358T>G)
n.128+1385T>G
c.2749T>G (p.Phe917Val)
c.3322T>G (p.Phe1108Val)
n.16352T>G
c.16336T>G (p.Phe5446Val)
c.16258T>G (p.Phe5420Val)
c.13642T>G (p.Phe4548Val)
c.16360T>G (p.Phe5454Val)
c.16357T>G (p.Phe5453Val)
c.16279T>G (p.Phe5427Val)
c.16264T>G (p.Phe5422Val)
c.16180T>G (p.Phe5394Val)
c.9478T>G (p.Phe3160Val)
c.9457T>G (p.Phe3153Val)
n.16355T>G
5g.90823567T=CA1562918315ADGRV1c.16339T= (p.Phe5447=)
c.5293T= (p.Phe1765=)
n.3606T=
c.265+147358T= (n.265+147358T=)
n.128+1385T=
c.2749T= (p.Phe917=)
c.3322T= (p.Phe1108=)
n.16352T=
c.16336T= (p.Phe5446=)
c.16258T= (p.Phe5420=)
c.13642T= (p.Phe4548=)
c.16360T= (p.Phe5454=)
c.16357T= (p.Phe5453=)
c.16279T= (p.Phe5427=)
c.16264T= (p.Phe5422=)
c.16180T= (p.Phe5394=)
c.9478T= (p.Phe3160=)
c.9457T= (p.Phe3153=)
n.16355T=
5g.90823568T>ACA360425726ADGRV1c.16340T>A (p.Phe5447Tyr)
c.5294T>A (p.Phe1765Tyr)
n.3607T>A
c.265+147359T>A (n.265+147359T>A)
n.128+1386T>A
c.2750T>A (p.Phe917Tyr)
c.3323T>A (p.Phe1108Tyr)
n.16353T>A
c.16337T>A (p.Phe5446Tyr)
c.16259T>A (p.Phe5420Tyr)
c.13643T>A (p.Phe4548Tyr)
c.16361T>A (p.Phe5454Tyr)
c.16358T>A (p.Phe5453Tyr)
c.16280T>A (p.Phe5427Tyr)
c.16265T>A (p.Phe5422Tyr)
c.16181T>A (p.Phe5394Tyr)
c.9479T>A (p.Phe3160Tyr)
c.9458T>A (p.Phe3153Tyr)
n.16356T>A
5g.90823568T>CCA360425727ADGRV1c.16340T>C (p.Phe5447Ser)
c.5294T>C (p.Phe1765Ser)
n.3607T>C
c.265+147359T>C (n.265+147359T>C)
n.128+1386T>C
c.2750T>C (p.Phe917Ser)
c.3323T>C (p.Phe1108Ser)
n.16353T>C
c.16337T>C (p.Phe5446Ser)
c.16259T>C (p.Phe5420Ser)
c.13643T>C (p.Phe4548Ser)
c.16361T>C (p.Phe5454Ser)
c.16358T>C (p.Phe5453Ser)
c.16280T>C (p.Phe5427Ser)
c.16265T>C (p.Phe5422Ser)
c.16181T>C (p.Phe5394Ser)
c.9479T>C (p.Phe3160Ser)
c.9458T>C (p.Phe3153Ser)
n.16356T>C
5g.90823568T>GCA360425728ADGRV1c.16340T>G (p.Phe5447Cys)
c.5294T>G (p.Phe1765Cys)
n.3607T>G
c.265+147359T>G (n.265+147359T>G)
n.128+1386T>G
c.2750T>G (p.Phe917Cys)
c.3323T>G (p.Phe1108Cys)
n.16353T>G
c.16337T>G (p.Phe5446Cys)
c.16259T>G (p.Phe5420Cys)
c.13643T>G (p.Phe4548Cys)
c.16361T>G (p.Phe5454Cys)
c.16358T>G (p.Phe5453Cys)
c.16280T>G (p.Phe5427Cys)
c.16265T>G (p.Phe5422Cys)
c.16181T>G (p.Phe5394Cys)
c.9479T>G (p.Phe3160Cys)
c.9458T>G (p.Phe3153Cys)
n.16356T>G
 ClinVar dbSNP
5g.90823568T=CA1562918316ADGRV1c.16340T= (p.Phe5447=)
c.5294T= (p.Phe1765=)
n.3607T=
c.265+147359T= (n.265+147359T=)
n.128+1386T=
c.2750T= (p.Phe917=)
c.3323T= (p.Phe1108=)
n.16353T=
c.16337T= (p.Phe5446=)
c.16259T= (p.Phe5420=)
c.13643T= (p.Phe4548=)
c.16361T= (p.Phe5454=)
c.16358T= (p.Phe5453=)
c.16280T= (p.Phe5427=)
c.16265T= (p.Phe5422=)
c.16181T= (p.Phe5394=)
c.9479T= (p.Phe3160=)
c.9458T= (p.Phe3153=)
n.16356T=
5g.90823569T>ACA360425730ADGRV1c.16341T>A (p.Phe5447Leu)
c.5295T>A (p.Phe1765Leu)
n.3608T>A
c.265+147360T>A (n.265+147360T>A)
n.128+1387T>A
c.2751T>A (p.Phe917Leu)
c.3324T>A (p.Phe1108Leu)
n.16354T>A
c.16338T>A (p.Phe5446Leu)
c.16260T>A (p.Phe5420Leu)
c.13644T>A (p.Phe4548Leu)
c.16362T>A (p.Phe5454Leu)
c.16359T>A (p.Phe5453Leu)
c.16281T>A (p.Phe5427Leu)
c.16266T>A (p.Phe5422Leu)
c.16182T>A (p.Phe5394Leu)
c.9480T>A (p.Phe3160Leu)
c.9459T>A (p.Phe3153Leu)
n.16357T>A
5g.90823569T>CCA445436608ADGRV1c.16341T>C (p.Phe5447=)
c.5295T>C (p.Phe1765=)
n.3608T>C
c.265+147360T>C (n.265+147360T>C)
n.128+1387T>C
c.2751T>C (p.Phe917=)
c.3324T>C (p.Phe1108=)
n.16354T>C
c.16338T>C (p.Phe5446=)
c.16260T>C (p.Phe5420=)
c.13644T>C (p.Phe4548=)
c.16362T>C (p.Phe5454=)
c.16359T>C (p.Phe5453=)
c.16281T>C (p.Phe5427=)
c.16266T>C (p.Phe5422=)
c.16182T>C (p.Phe5394=)
c.9480T>C (p.Phe3160=)
c.9459T>C (p.Phe3153=)
n.16357T>C
5g.90823569T>GCA360425729ADGRV1c.16341T>G (p.Phe5447Leu)
c.5295T>G (p.Phe1765Leu)
n.3608T>G
c.265+147360T>G (n.265+147360T>G)
n.128+1387T>G
c.2751T>G (p.Phe917Leu)
c.3324T>G (p.Phe1108Leu)
n.16354T>G
c.16338T>G (p.Phe5446Leu)
c.16260T>G (p.Phe5420Leu)
c.13644T>G (p.Phe4548Leu)
c.16362T>G (p.Phe5454Leu)
c.16359T>G (p.Phe5453Leu)
c.16281T>G (p.Phe5427Leu)
c.16266T>G (p.Phe5422Leu)
c.16182T>G (p.Phe5394Leu)
c.9480T>G (p.Phe3160Leu)
c.9459T>G (p.Phe3153Leu)
n.16357T>G
5g.90823570A=CA1562918317ADGRV1c.16342A= (p.Ile5448=)
c.5296A= (p.Ile1766=)
n.3609A=
c.265+147361A= (n.265+147361A=)
n.128+1388A=
c.2752A= (p.Ile918=)
c.3325A= (p.Ile1109=)
n.16355A=
c.16339A= (p.Ile5447=)
c.16261A= (p.Ile5421=)
c.13645A= (p.Ile4549=)
c.16363A= (p.Ile5455=)
c.16360A= (p.Ile5454=)
c.16282A= (p.Ile5428=)
c.16267A= (p.Ile5423=)
c.16183A= (p.Ile5395=)
c.9481A= (p.Ile3161=)
c.9460A= (p.Ile3154=)
n.16358A=
5g.90823570A>CCA360425731ADGRV1c.16342A>C (p.Ile5448Leu)
c.5296A>C (p.Ile1766Leu)
n.3609A>C
c.265+147361A>C (n.265+147361A>C)
n.128+1388A>C
c.2752A>C (p.Ile918Leu)
c.3325A>C (p.Ile1109Leu)
n.16355A>C
c.16339A>C (p.Ile5447Leu)
c.16261A>C (p.Ile5421Leu)
c.13645A>C (p.Ile4549Leu)
c.16363A>C (p.Ile5455Leu)
c.16360A>C (p.Ile5454Leu)
c.16282A>C (p.Ile5428Leu)
c.16267A>C (p.Ile5423Leu)
c.16183A>C (p.Ile5395Leu)
c.9481A>C (p.Ile3161Leu)
c.9460A>C (p.Ile3154Leu)
n.16358A>C
 ClinVar dbSNP gnomAD v4
5g.90823570A>GCA360425732ADGRV1c.16342A>G (p.Ile5448Val)
c.5296A>G (p.Ile1766Val)
n.3609A>G
c.265+147361A>G (n.265+147361A>G)
n.128+1388A>G
c.2752A>G (p.Ile918Val)
c.3325A>G (p.Ile1109Val)
n.16355A>G
c.16339A>G (p.Ile5447Val)
c.16261A>G (p.Ile5421Val)
c.13645A>G (p.Ile4549Val)
c.16363A>G (p.Ile5455Val)
c.16360A>G (p.Ile5454Val)
c.16282A>G (p.Ile5428Val)
c.16267A>G (p.Ile5423Val)
c.16183A>G (p.Ile5395Val)
c.9481A>G (p.Ile3161Val)
c.9460A>G (p.Ile3154Val)
n.16358A>G
 dbSNP
5g.90823570A>TCA360425733ADGRV1c.16342A>T (p.Ile5448Phe)
c.5296A>T (p.Ile1766Phe)
n.3609A>T
c.265+147361A>T (n.265+147361A>T)
n.128+1388A>T
c.2752A>T (p.Ile918Phe)
c.3325A>T (p.Ile1109Phe)
n.16355A>T
c.16339A>T (p.Ile5447Phe)
c.16261A>T (p.Ile5421Phe)
c.13645A>T (p.Ile4549Phe)
c.16363A>T (p.Ile5455Phe)
c.16360A>T (p.Ile5454Phe)
c.16282A>T (p.Ile5428Phe)
c.16267A>T (p.Ile5423Phe)
c.16183A>T (p.Ile5395Phe)
c.9481A>T (p.Ile3161Phe)
c.9460A>T (p.Ile3154Phe)
n.16358A>T
5g.90823571T>ACA360425734ADGRV1c.16343T>A (p.Ile5448Asn)
c.5297T>A (p.Ile1766Asn)
n.3610T>A
c.265+147362T>A (n.265+147362T>A)
n.128+1389T>A
c.2753T>A (p.Ile918Asn)
c.3326T>A (p.Ile1109Asn)
n.16356T>A
c.16340T>A (p.Ile5447Asn)
c.16262T>A (p.Ile5421Asn)
c.13646T>A (p.Ile4549Asn)
c.16364T>A (p.Ile5455Asn)
c.16361T>A (p.Ile5454Asn)
c.16283T>A (p.Ile5428Asn)
c.16268T>A (p.Ile5423Asn)
c.16184T>A (p.Ile5395Asn)
c.9482T>A (p.Ile3161Asn)
c.9461T>A (p.Ile3154Asn)
n.16359T>A
5g.90823571T>CCA360425735ADGRV1c.16343T>C (p.Ile5448Thr)
c.5297T>C (p.Ile1766Thr)
n.3610T>C
c.265+147362T>C (n.265+147362T>C)
n.128+1389T>C
c.2753T>C (p.Ile918Thr)
c.3326T>C (p.Ile1109Thr)
n.16356T>C
c.16340T>C (p.Ile5447Thr)
c.16262T>C (p.Ile5421Thr)
c.13646T>C (p.Ile4549Thr)
c.16364T>C (p.Ile5455Thr)
c.16361T>C (p.Ile5454Thr)
c.16283T>C (p.Ile5428Thr)
c.16268T>C (p.Ile5423Thr)
c.16184T>C (p.Ile5395Thr)
c.9482T>C (p.Ile3161Thr)
c.9461T>C (p.Ile3154Thr)
n.16359T>C
5g.90823571T>GCA360425736ADGRV1c.16343T>G (p.Ile5448Ser)
c.5297T>G (p.Ile1766Ser)
n.3610T>G
c.265+147362T>G (n.265+147362T>G)
n.128+1389T>G
c.2753T>G (p.Ile918Ser)
c.3326T>G (p.Ile1109Ser)
n.16356T>G
c.16340T>G (p.Ile5447Ser)
c.16262T>G (p.Ile5421Ser)
c.13646T>G (p.Ile4549Ser)
c.16364T>G (p.Ile5455Ser)
c.16361T>G (p.Ile5454Ser)
c.16283T>G (p.Ile5428Ser)
c.16268T>G (p.Ile5423Ser)
c.16184T>G (p.Ile5395Ser)
c.9482T>G (p.Ile3161Ser)
c.9461T>G (p.Ile3154Ser)
n.16359T>G
5g.90823572C>ACA445436610ADGRV1c.16344C>A (p.Ile5448=)
c.5298C>A (p.Ile1766=)
n.3611C>A
c.265+147363C>A (n.265+147363C>A)
n.128+1390C>A
c.2754C>A (p.Ile918=)
c.3327C>A (p.Ile1109=)
n.16357C>A
c.16341C>A (p.Ile5447=)
c.16263C>A (p.Ile5421=)
c.13647C>A (p.Ile4549=)
c.16365C>A (p.Ile5455=)
c.16362C>A (p.Ile5454=)
c.16284C>A (p.Ile5428=)
c.16269C>A (p.Ile5423=)
c.16185C>A (p.Ile5395=)
c.9483C>A (p.Ile3161=)
c.9462C>A (p.Ile3154=)
n.16360C>A
 gnomAD v4
5g.90823572C>GCA360425737ADGRV1c.16344C>G (p.Ile5448Met)
c.5298C>G (p.Ile1766Met)
n.3611C>G
c.265+147363C>G (n.265+147363C>G)
n.128+1390C>G
c.2754C>G (p.Ile918Met)
c.3327C>G (p.Ile1109Met)
n.16357C>G
c.16341C>G (p.Ile5447Met)
c.16263C>G (p.Ile5421Met)
c.13647C>G (p.Ile4549Met)
c.16365C>G (p.Ile5455Met)
c.16362C>G (p.Ile5454Met)
c.16284C>G (p.Ile5428Met)
c.16269C>G (p.Ile5423Met)
c.16185C>G (p.Ile5395Met)
c.9483C>G (p.Ile3161Met)
c.9462C>G (p.Ile3154Met)
n.16360C>G
5g.90823572C>TCA445436609ADGRV1c.16344C>T (p.Ile5448=)
c.5298C>T (p.Ile1766=)
n.3611C>T
c.265+147363C>T (n.265+147363C>T)
n.128+1390C>T
c.2754C>T (p.Ile918=)
c.3327C>T (p.Ile1109=)
n.16357C>T
c.16341C>T (p.Ile5447=)
c.16263C>T (p.Ile5421=)
c.13647C>T (p.Ile4549=)
c.16365C>T (p.Ile5455=)
c.16362C>T (p.Ile5454=)
c.16284C>T (p.Ile5428=)
c.16269C>T (p.Ile5423=)
c.16185C>T (p.Ile5395=)
c.9483C>T (p.Ile3161=)
c.9462C>T (p.Ile3154=)
n.16360C>T
5g.90823573A=CA1562918318ADGRV1c.16345A= (p.Ser5449=)
c.5299A= (p.Ser1767=)
n.3612A=
c.265+147364A= (n.265+147364A=)
n.128+1391A=
c.2755A= (p.Ser919=)
c.3328A= (p.Ser1110=)
n.16358A=
c.16342A= (p.Ser5448=)
c.16264A= (p.Ser5422=)
c.13648A= (p.Ser4550=)
c.16366A= (p.Ser5456=)
c.16363A= (p.Ser5455=)
c.16285A= (p.Ser5429=)
c.16270A= (p.Ser5424=)
c.16186A= (p.Ser5396=)
c.9484A= (p.Ser3162=)
c.9463A= (p.Ser3155=)
n.16361A=
5g.90823573A>CCA360425738ADGRV1c.16345A>C (p.Ser5449Arg)
c.5299A>C (p.Ser1767Arg)
n.3612A>C
c.265+147364A>C (n.265+147364A>C)
n.128+1391A>C
c.2755A>C (p.Ser919Arg)
c.3328A>C (p.Ser1110Arg)
n.16358A>C
c.16342A>C (p.Ser5448Arg)
c.16264A>C (p.Ser5422Arg)
c.13648A>C (p.Ser4550Arg)
c.16366A>C (p.Ser5456Arg)
c.16363A>C (p.Ser5455Arg)
c.16285A>C (p.Ser5429Arg)
c.16270A>C (p.Ser5424Arg)
c.16186A>C (p.Ser5396Arg)
c.9484A>C (p.Ser3162Arg)
c.9463A>C (p.Ser3155Arg)
n.16361A>C
5g.90823573A>GCA3342118ADGRV1c.16345A>G (p.Ser5449Gly)
c.5299A>G (p.Ser1767Gly)
n.3612A>G
c.265+147364A>G (n.265+147364A>G)
n.128+1391A>G
c.2755A>G (p.Ser919Gly)
c.3328A>G (p.Ser1110Gly)
n.16358A>G
c.16342A>G (p.Ser5448Gly)
c.16264A>G (p.Ser5422Gly)
c.13648A>G (p.Ser4550Gly)
c.16366A>G (p.Ser5456Gly)
c.16363A>G (p.Ser5455Gly)
c.16285A>G (p.Ser5429Gly)
c.16270A>G (p.Ser5424Gly)
c.16186A>G (p.Ser5396Gly)
c.9484A>G (p.Ser3162Gly)
c.9463A>G (p.Ser3155Gly)
n.16361A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90823573A>TCA360425739ADGRV1c.16345A>T (p.Ser5449Cys)
c.5299A>T (p.Ser1767Cys)
n.3612A>T
c.265+147364A>T (n.265+147364A>T)
n.128+1391A>T
c.2755A>T (p.Ser919Cys)
c.3328A>T (p.Ser1110Cys)
n.16358A>T
c.16342A>T (p.Ser5448Cys)
c.16264A>T (p.Ser5422Cys)
c.13648A>T (p.Ser4550Cys)
c.16366A>T (p.Ser5456Cys)
c.16363A>T (p.Ser5455Cys)
c.16285A>T (p.Ser5429Cys)
c.16270A>T (p.Ser5424Cys)
c.16186A>T (p.Ser5396Cys)
c.9484A>T (p.Ser3162Cys)
c.9463A>T (p.Ser3155Cys)
n.16361A>T
5g.90823574G>ACA360425740ADGRV1c.16346G>A (p.Ser5449Asn)
c.5300G>A (p.Ser1767Asn)
n.3613G>A
c.265+147365G>A (n.265+147365G>A)
n.128+1392G>A
c.2756G>A (p.Ser919Asn)
c.3329G>A (p.Ser1110Asn)
n.16359G>A
c.16343G>A (p.Ser5448Asn)
c.16265G>A (p.Ser5422Asn)
c.13649G>A (p.Ser4550Asn)
c.16367G>A (p.Ser5456Asn)
c.16364G>A (p.Ser5455Asn)
c.16286G>A (p.Ser5429Asn)
c.16271G>A (p.Ser5424Asn)
c.16187G>A (p.Ser5396Asn)
c.9485G>A (p.Ser3162Asn)
c.9464G>A (p.Ser3155Asn)
n.16362G>A
5g.90823574G>CCA360425741ADGRV1c.16346G>C (p.Ser5449Thr)
c.5300G>C (p.Ser1767Thr)
n.3613G>C
c.265+147365G>C (n.265+147365G>C)
n.128+1392G>C
c.2756G>C (p.Ser919Thr)
c.3329G>C (p.Ser1110Thr)
n.16359G>C
c.16343G>C (p.Ser5448Thr)
c.16265G>C (p.Ser5422Thr)
c.13649G>C (p.Ser4550Thr)
c.16367G>C (p.Ser5456Thr)
c.16364G>C (p.Ser5455Thr)
c.16286G>C (p.Ser5429Thr)
c.16271G>C (p.Ser5424Thr)
c.16187G>C (p.Ser5396Thr)
c.9485G>C (p.Ser3162Thr)
c.9464G>C (p.Ser3155Thr)
n.16362G>C
 ClinVar dbSNP
5g.90823574G=CA1562918319ADGRV1c.16346G= (p.Ser5449=)
c.5300G= (p.Ser1767=)
n.3613G=
c.265+147365G= (n.265+147365G=)
n.128+1392G=
c.2756G= (p.Ser919=)
c.3329G= (p.Ser1110=)
n.16359G=
c.16343G= (p.Ser5448=)
c.16265G= (p.Ser5422=)
c.13649G= (p.Ser4550=)
c.16367G= (p.Ser5456=)
c.16364G= (p.Ser5455=)
c.16286G= (p.Ser5429=)
c.16271G= (p.Ser5424=)
c.16187G= (p.Ser5396=)
c.9485G= (p.Ser3162=)
c.9464G= (p.Ser3155=)
n.16362G=
5g.90823574G>TCA360425742ADGRV1c.16346G>T (p.Ser5449Ile)
c.5300G>T (p.Ser1767Ile)
n.3613G>T
c.265+147365G>T (n.265+147365G>T)
n.128+1392G>T
c.2756G>T (p.Ser919Ile)
c.3329G>T (p.Ser1110Ile)
n.16359G>T
c.16343G>T (p.Ser5448Ile)
c.16265G>T (p.Ser5422Ile)
c.13649G>T (p.Ser4550Ile)
c.16367G>T (p.Ser5456Ile)
c.16364G>T (p.Ser5455Ile)
c.16286G>T (p.Ser5429Ile)
c.16271G>T (p.Ser5424Ile)
c.16187G>T (p.Ser5396Ile)
c.9485G>T (p.Ser3162Ile)
c.9464G>T (p.Ser3155Ile)
n.16362G>T
5g.90823575C>ACA360425744ADGRV1c.16347C>A (p.Ser5449Arg)
c.5301C>A (p.Ser1767Arg)
n.3614C>A
c.265+147366C>A (n.265+147366C>A)
n.128+1393C>A
c.2757C>A (p.Ser919Arg)
c.3330C>A (p.Ser1110Arg)
n.16360C>A
c.16344C>A (p.Ser5448Arg)
c.16266C>A (p.Ser5422Arg)
c.13650C>A (p.Ser4550Arg)
c.16368C>A (p.Ser5456Arg)
c.16365C>A (p.Ser5455Arg)
c.16287C>A (p.Ser5429Arg)
c.16272C>A (p.Ser5424Arg)
c.16188C>A (p.Ser5396Arg)
c.9486C>A (p.Ser3162Arg)
c.9465C>A (p.Ser3155Arg)
n.16363C>A
5g.90823575C=CA1562918320ADGRV1c.16347C= (p.Ser5449=)
c.5301C= (p.Ser1767=)
n.3614C=
c.265+147366C= (n.265+147366C=)
n.128+1393C=
c.2757C= (p.Ser919=)
c.3330C= (p.Ser1110=)
n.16360C=
c.16344C= (p.Ser5448=)
c.16266C= (p.Ser5422=)
c.13650C= (p.Ser4550=)
c.16368C= (p.Ser5456=)
c.16365C= (p.Ser5455=)
c.16287C= (p.Ser5429=)
c.16272C= (p.Ser5424=)
c.16188C= (p.Ser5396=)
c.9486C= (p.Ser3162=)
c.9465C= (p.Ser3155=)
n.16363C=
5g.90823575C>GCA360425743ADGRV1c.16347C>G (p.Ser5449Arg)
c.5301C>G (p.Ser1767Arg)
n.3614C>G
c.265+147366C>G (n.265+147366C>G)
n.128+1393C>G
c.2757C>G (p.Ser919Arg)
c.3330C>G (p.Ser1110Arg)
n.16360C>G
c.16344C>G (p.Ser5448Arg)
c.16266C>G (p.Ser5422Arg)
c.13650C>G (p.Ser4550Arg)
c.16368C>G (p.Ser5456Arg)
c.16365C>G (p.Ser5455Arg)
c.16287C>G (p.Ser5429Arg)
c.16272C>G (p.Ser5424Arg)
c.16188C>G (p.Ser5396Arg)
c.9486C>G (p.Ser3162Arg)
c.9465C>G (p.Ser3155Arg)
n.16363C>G
5g.90823575C>TCA3342119ADGRV1c.16347C>T (p.Ser5449=)
c.5301C>T (p.Ser1767=)
n.3614C>T
c.265+147366C>T (n.265+147366C>T)
n.128+1393C>T
c.2757C>T (p.Ser919=)
c.3330C>T (p.Ser1110=)
n.16360C>T
c.16344C>T (p.Ser5448=)
c.16266C>T (p.Ser5422=)
c.13650C>T (p.Ser4550=)
c.16368C>T (p.Ser5456=)
c.16365C>T (p.Ser5455=)
c.16287C>T (p.Ser5429=)
c.16272C>T (p.Ser5424=)
c.16188C>T (p.Ser5396=)
c.9486C>T (p.Ser3162=)
c.9465C>T (p.Ser3155=)
n.16363C>T
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched