| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.90823473_90823476delinsAGTC | CA1562918258 | ADGRV1 | c.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 | |
| 5 | g.90823479_90823481del | CA561261487 | ADGRV1 | c.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 |
| 5 | g.90823476C>A | CA445436526 | ADGRV1 | c.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 | |
| 5 | g.90823476C= | CA1562918260 | ADGRV1 | c.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= | |
| 5 | g.90823476C>G | CA3342093 | ADGRV1 | c.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 |
| 5 | g.90823476C>T | CA138055 | ADGRV1 | c.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 |
| 5 | g.90823477G>A | CA3342095 | ADGRV1 | c.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 |
| 5 | g.90823477G>C | CA3342096 | ADGRV1 | c.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 |
| 5 | g.90823477G= | CA1562918261 | ADGRV1 | c.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= | |
| 5 | g.90823477G>T | CA3342094 | ADGRV1 | c.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 |
| 5 | g.90823478T>A | CA360425544 | ADGRV1 | c.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 | |
| 5 | g.90823478T>C | CA360425545 | ADGRV1 | c.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 | |
| 5 | g.90823478T>G | CA360425546 | ADGRV1 | c.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 | |
| 5 | g.90823479C>A | CA3342097 | ADGRV1 | c.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 |
| 5 | g.90823479C= | CA1562918262 | ADGRV1 | c.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= | |
| 5 | g.90823479C>G | CA445436536 | ADGRV1 | c.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 |
| 5 | g.90823479C>T | CA3342098 | ADGRV1 | c.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 |
| 5 | g.90823480G>A | CA3342099 | ADGRV1 | c.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 |
| 5 | g.90823480G>C | CA360425548 | ADGRV1 | c.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 |
| 5 | g.90823480G= | CA1562918263 | ADGRV1 | c.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= | |
| 5 | g.90823480G>T | CA360425547 | ADGRV1 | c.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 |
| 5 | g.90823481T>A | CA360425549 | ADGRV1 | c.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 |
| 5 | g.90823481T>C | CA360425550 | ADGRV1 | c.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 | |
| 5 | g.90823481T>G | CA360425551 | ADGRV1 | c.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 | |
| 5 | g.90823482G>A | CA445436543 | ADGRV1 | c.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 |
| 5 | g.90823482G>C | CA445436545 | ADGRV1 | c.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 | |
| 5 | g.90823482G>T | CA445436547 | ADGRV1 | c.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 | |
| 5 | g.90823483C>A | CA360425552 | ADGRV1 | c.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 | |
| 5 | g.90823483C>G | CA360425553 | ADGRV1 | c.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 | |
| 5 | g.90823483C>T | CA360425554 | ADGRV1 | c.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 | |
| 5 | g.90823484T>A | CA360425555 | ADGRV1 | c.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 | |
| 5 | g.90823484T>C | CA360425556 | ADGRV1 | c.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 |
| 5 | g.90823484T>G | CA360425557 | ADGRV1 | c.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 | |
| 5 | g.90823485C>A | CA445436553 | ADGRV1 | c.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 | |
| 5 | g.90823485C= | CA1562918264 | ADGRV1 | c.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= | |
| 5 | g.90823485C>G | CA445436555 | ADGRV1 | c.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 |
| 5 | g.90823485C>T | CA445436557 | ADGRV1 | c.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 | |
| 5 | g.90823486C>A | CA10576675 | ADGRV1 | c.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 |
| 5 | g.90823486C= | CA1562918265 | ADGRV1 | c.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= | |
| 5 | g.90823486C>G | CA360425558 | ADGRV1 | c.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 | |
| 5 | g.90823486C>T | CA360425559 | ADGRV1 | c.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 | |
| 5 | g.90823487A= | CA1562918266 | ADGRV1 | c.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= | |
| 5 | g.90823487A>C | CA360425561 | ADGRV1 | c.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 | |
| 5 | g.90823487A>G | CA360425562 | ADGRV1 | c.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 |
| 5 | g.90823487A>T | CA360425560 | ADGRV1 | c.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 | |
| 5 | g.90823489_90823491del | CA2674577100 | ADGRV1 | c.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 |
| 5 | g.90823488G>A | CA445436559 | ADGRV1 | c.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 |
| 5 | g.90823488G>C | CA360425563 | ADGRV1 | c.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 | |
| 5 | g.90823488G= | CA1562918267 | ADGRV1 | c.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= | |
| 5 | g.90823488G>T | CA360425564 | ADGRV1 | c.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 |