| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.41769625C>A | CA399505829 | JUP | c.261G>T (p.Glu87Asp) c.312G>T (p.Glu104Asp) | |
| 17 | g.41769625C= | CA2260176239 | JUP | c.261G= (p.Glu87=) c.312G= (p.Glu104=) | |
| 17 | g.41769625C>G | CA399505831 | JUP | c.261G>C (p.Glu87Asp) c.312G>C (p.Glu104Asp) | |
| 17 | g.41769625C>T | CA8565532 | JUP | c.261G>A (p.Glu87=) c.312G>A (p.Glu104=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769626T>A | CA399505841 | JUP | c.260A>T (p.Glu87Val) c.260A>T c.311A>T (p.Glu104Val) | gnomAD v4 |
| 17 | g.41769626T>C | CA399505846 | JUP | c.260A>G (p.Glu87Gly) c.260A>G c.311A>G (p.Glu104Gly) | gnomAD v4 |
| 17 | g.41769626T>G | CA399505839 | JUP | c.260A>C (p.Glu87Ala) c.260A>C c.311A>C (p.Glu104Ala) | |
| 17 | g.41769627C>A | CA399505854 | JUP | c.259G>T (p.Glu87Ter) c.259G>T c.310G>T (p.Glu104Ter) | |
| 17 | g.41769627C= | CA2260176240 | JUP | c.259G= (p.Glu87=) c.259G= c.310G= (p.Glu104=) | |
| 17 | g.41769627C>G | CA399505849 | JUP | c.259G>C (p.Glu87Gln) c.259G>C c.310G>C (p.Glu104Gln) | gnomAD v4 |
| 17 | g.41769627C>T | CA399505852 | JUP | c.259G>A (p.Glu87Lys) c.259G>A c.310G>A (p.Glu104Lys) | dbSNP gnomAD v2 |
| 17 | g.41769628C>A | CA500207838 | JUP | c.258G>T (p.Arg86=) c.309G>T (p.Arg103=) | |
| 17 | g.41769628C= | CA2260176241 | JUP | c.258G= (p.Arg86=) c.309G= (p.Arg103=) | |
| 17 | g.41769628C>G | CA500207840 | JUP | c.258G>C (p.Arg86=) c.309G>C (p.Arg103=) | |
| 17 | g.41769628C>T | CA8565533 | JUP | c.258G>A (p.Arg86=) c.309G>A (p.Arg103=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769629C>A | CA399505859 | JUP | c.257G>T (p.Arg86Leu) c.308G>T (p.Arg103Leu) | |
| 17 | g.41769629C= | CA2260176242 | JUP | c.257G= (p.Arg86=) c.308G= (p.Arg103=) | |
| 17 | g.41769629C>G | CA8565534 | JUP | c.257G>C (p.Arg86Pro) c.308G>C (p.Arg103Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769629C>T | CA8565535 | JUP | c.257G>A (p.Arg86Gln) c.308G>A (p.Arg103Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769630G>A | CA8565536 | JUP | c.256C>T (p.Arg86Trp) c.307C>T (p.Arg103Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769630G>C | CA399505861 | JUP | c.256C>G (p.Arg86Gly) c.307C>G (p.Arg103Gly) | |
| 17 | g.41769630G= | CA2260176243 | JUP | c.256C= (p.Arg86=) c.307C= (p.Arg103=) | |
| 17 | g.41769630G>T | CA500207843 | JUP | c.256C>A (p.Arg86=) c.307C>A (p.Arg103=) | gnomAD v4 |
| 17 | g.41769631C>A | CA500207847 | JUP | c.255G>T (p.Val85=) c.306G>T (p.Val102=) | |
| 17 | g.41769631C>G | CA500207844 | JUP | c.255G>C (p.Val85=) c.306G>C (p.Val102=) | |
| 17 | g.41769631C>T | CA500207845 | JUP | c.255G>A (p.Val85=) c.306G>A (p.Val102=) | |
| 17 | g.41769632A>C | CA399505862 | JUP | c.254T>G (p.Val85Gly) c.305T>G (p.Val102Gly) | |
| 17 | g.41769632A>G | CA399505864 | JUP | c.254T>C (p.Val85Ala) c.305T>C (p.Val102Ala) | |
| 17 | g.41769632A>T | CA399505874 | JUP | c.254T>A (p.Val85Glu) c.305T>A (p.Val102Glu) | |
| 17 | g.41769633C>A | CA399505880 | JUP | c.253G>T (p.Val85Leu) c.304G>T (p.Val102Leu) | gnomAD v4 |
| 17 | g.41769633C= | CA2260176244 | JUP | c.253G= (p.Val85=) c.304G= (p.Val102=) | |
| 17 | g.41769633C>G | CA8565537 | JUP | c.253G>C (p.Val85Leu) c.304G>C (p.Val102Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769633C>T | CA8565538 | JUP | c.253G>A (p.Val85Met) c.304G>A (p.Val102Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769634C>A | CA500207853 | JUP | c.252G>T (p.Arg84=) c.303G>T (p.Arg101=) | |
| 17 | g.41769634C= | CA2260176245 | JUP | c.252G= (p.Arg84=) c.303G= (p.Arg101=) | |
| 17 | g.41769634C>G | CA500207855 | JUP | c.252G>C (p.Arg84=) c.303G>C (p.Arg101=) | |
| 17 | g.41769634C>T | CA500207856 | JUP | c.252G>A (p.Arg84=) c.303G>A (p.Arg101=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769635C>A | CA399505884 | JUP | c.251G>T (p.Arg84Leu) c.302G>T (p.Arg101Leu) | gnomAD v4 |
| 17 | g.41769635C= | CA2260176246 | JUP | c.251G= (p.Arg84=) c.302G= (p.Arg101=) | |
| 17 | g.41769635C>G | CA399505888 | JUP | c.251G>C (p.Arg84Pro) c.302G>C (p.Arg101Pro) | gnomAD v4 |
| 17 | g.41769635C>T | CA8565539 | JUP | c.251G>A (p.Arg84Gln) c.302G>A (p.Arg101Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.41769636G>A | CA8565540 | JUP | c.250C>T (p.Arg84Trp) c.301C>T (p.Arg101Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769636G>C | CA399505898 | JUP | c.250C>G (p.Arg84Gly) c.301C>G (p.Arg101Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769636G= | CA2260176247 | JUP | c.250C= (p.Arg84=) c.301C= (p.Arg101=) | |
| 17 | g.41769636G>T | CA500207858 | JUP | c.250C>A (p.Arg84=) c.301C>A (p.Arg101=) | |
| 17 | g.41769637T>A | CA399505900 | JUP | c.249A>T (p.Lys83Asn) c.300A>T (p.Lys100Asn) | |
| 17 | g.41769637T>C | CA500207860 | JUP | c.249A>G (p.Lys83=) c.300A>G (p.Lys100=) | |
| 17 | g.41769637T>G | CA399505902 | JUP | c.249A>C (p.Lys83Asn) c.300A>C (p.Lys100Asn) | |
| 17 | g.41769638T>A | CA399505903 | JUP | c.248A>T (p.Lys83Ile) c.299A>T (p.Lys100Ile) | |
| 17 | g.41769638T>C | CA8565541 | JUP | c.248A>G (p.Lys83Arg) c.299A>G (p.Lys100Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769638T>G | CA399505919 | JUP | c.248A>C (p.Lys83Thr) c.299A>C (p.Lys100Thr) | |
| 17 | g.41769638T= | CA2260176248 | JUP | c.248A= (p.Lys83=) c.299A= (p.Lys100=) | |
| 17 | g.41769639T>A | CA399505923 | JUP | c.247A>T (p.Lys83Ter) c.298A>T (p.Lys100Ter) | |
| 17 | g.41769639T>C | CA399505924 | JUP | c.247A>G (p.Lys83Glu) c.298A>G (p.Lys100Glu) | |
| 17 | g.41769639T>G | CA399505927 | JUP | c.247A>C (p.Lys83Gln) c.298A>C (p.Lys100Gln) | |
| 17 | g.41769640G>A | CA500207874 | JUP | c.246C>T (p.Ala82=) c.297C>T (p.Ala99=) | gnomAD v4 |
| 17 | g.41769640G>C | CA500207877 | JUP | c.246C>G (p.Ala82=) c.297C>G (p.Ala99=) | |
| 17 | g.41769640G>T | CA500207876 | JUP | c.246C>A (p.Ala82=) c.297C>A (p.Ala99=) | gnomAD v4 |
| 17 | g.41769641G>A | CA399505931 | JUP | c.245C>T (p.Ala82Val) c.296C>T (p.Ala99Val) | gnomAD v4 |
| 17 | g.41769641G>C | CA399505938 | JUP | c.245C>G (p.Ala82Gly) c.296C>G (p.Ala99Gly) | |
| 17 | g.41769641G>T | CA399505928 | JUP | c.245C>A (p.Ala82Asp) c.296C>A (p.Ala99Asp) | gnomAD v4 |
| 17 | g.41769642C>A | CA399505942 | JUP | c.244G>T (p.Ala82Ser) c.295G>T (p.Ala99Ser) | dbSNP gnomAD v4 |
| 17 | g.41769642C= | CA2260176249 | JUP | c.244G= (p.Ala82=) c.295G= (p.Ala99=) | |
| 17 | g.41769642C>G | CA399505944 | JUP | c.244G>C (p.Ala82Pro) c.295G>C (p.Ala99Pro) | |
| 17 | g.41769642C>T | CA399505948 | JUP | c.244G>A (p.Ala82Thr) c.295G>A (p.Ala99Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769643C>A | CA399505949 | JUP | c.243G>T (p.Arg81Ser) c.294G>T (p.Arg98Ser) | gnomAD v4 |
| 17 | g.41769643C= | CA2260176250 | JUP | c.243G= (p.Arg81=) c.294G= (p.Arg98=) | |
| 17 | g.41769643C>G | CA399505952 | JUP | c.243G>C (p.Arg81Ser) c.294G>C (p.Arg98Ser) | |
| 17 | g.41769643C>T | CA500207889 | JUP | c.243G>A (p.Arg81=) c.294G>A (p.Arg98=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769644C>A | CA399505960 | JUP | c.242G>T (p.Arg81Met) c.293G>T (p.Arg98Met) | |
| 17 | g.41769644C>G | CA399505957 | JUP | c.242G>C (p.Arg81Thr) c.293G>C (p.Arg98Thr) | |
| 17 | g.41769644C>T | CA399505956 | JUP | c.242G>A (p.Arg81Lys) c.293G>A (p.Arg98Lys) | |
| 17 | g.41769645T>A | CA399505970 | JUP | c.241A>T (p.Arg81Trp) c.292A>T (p.Arg98Trp) | |
| 17 | g.41769645T>C | CA399505971 | JUP | c.241A>G (p.Arg81Gly) c.292A>G (p.Arg98Gly) | gnomAD v4 |
| 17 | g.41769645T>G | CA500207899 | JUP | c.241A>C (p.Arg81=) c.292A>C (p.Arg98=) | |
| 17 | g.41769646G>A | CA8565542 | JUP | c.240C>T (p.Ala80=) c.291C>T (p.Ala97=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769646G>C | CA500207900 | JUP | c.240C>G (p.Ala80=) c.291C>G (p.Ala97=) | |
| 17 | g.41769646G= | CA2260176251 | JUP | c.240C= (p.Ala80=) c.291C= (p.Ala97=) | |
| 17 | g.41769646G>T | CA500207901 | JUP | c.240C>A (p.Ala80=) c.291C>A (p.Ala97=) | |
| 17 | g.41769647G>A | CA399505975 | JUP | c.239C>T (p.Ala80Val) c.290C>T (p.Ala97Val) | |
| 17 | g.41769647G>C | CA399505976 | JUP | c.239C>G (p.Ala80Gly) c.290C>G (p.Ala97Gly) | |
| 17 | g.41769647G>T | CA399505977 | JUP | c.239C>A (p.Ala80Asp) c.290C>A (p.Ala97Asp) | gnomAD v4 |
| 17 | g.41769648C>A | CA399505978 | JUP | c.238G>T (p.Ala80Ser) c.289G>T (p.Ala97Ser) | gnomAD v4 |
| 17 | g.41769648C= | CA2260176252 | JUP | c.238G= (p.Ala80=) c.289G= (p.Ala97=) | |
| 17 | g.41769648C>G | CA399505981 | JUP | c.238G>C (p.Ala80Pro) c.289G>C (p.Ala97Pro) | |
| 17 | g.41769648C>T | CA290700938 | JUP | c.238G>A (p.Ala80Thr) c.289G>A (p.Ala97Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769649T>A | CA500207910 | JUP | c.237A>T (p.Thr79=) c.288A>T (p.Thr96=) | |
| 17 | g.41769649T>C | CA500207913 | JUP | c.237A>G (p.Thr79=) c.288A>G (p.Thr96=) | |
| 17 | g.41769649T>G | CA500207914 | JUP | c.237A>C (p.Thr79=) c.288A>C (p.Thr96=) | |
| 17 | g.41769650G>A | CA399505983 | JUP | c.236C>T (p.Thr79Ile) c.287C>T (p.Thr96Ile) | gnomAD v4 |
| 17 | g.41769650G>C | CA399505985 | JUP | c.236C>G (p.Thr79Arg) c.287C>G (p.Thr96Arg) | gnomAD v4 |
| 17 | g.41769650G>T | CA399505987 | JUP | c.236C>A (p.Thr79Lys) c.287C>A (p.Thr96Lys) | gnomAD v4 |
| 17 | g.41769651T>A | CA399505989 | JUP | c.235A>T (p.Thr79Ser) c.286A>T (p.Thr96Ser) | |
| 17 | g.41769651T>C | CA399505994 | JUP | c.235A>G (p.Thr79Ala) c.286A>G (p.Thr96Ala) | |
| 17 | g.41769651T>G | CA399505998 | JUP | c.235A>C (p.Thr79Pro) c.286A>C (p.Thr96Pro) | |
| 17 | g.41769652T>A | CA500207917 | JUP | c.234A>T (p.Thr78=) c.285A>T (p.Thr95=) | |
| 17 | g.41769652T>C | CA500207919 | JUP | c.234A>G (p.Thr78=) c.285A>G (p.Thr95=) | |
| 17 | g.41769652T>G | CA500207918 | JUP | c.234A>C (p.Thr78=) c.285A>C (p.Thr95=) | |
| 17 | g.41769653G>A | CA399506002 | JUP | c.233C>T (p.Thr78Ile) c.284C>T (p.Thr95Ile) | |
| 17 | g.41769653G>C | CA399506004 | JUP | c.233C>G (p.Thr78Arg) c.284C>G (p.Thr95Arg) | |
| 17 | g.41769653G>T | CA399506005 | JUP | c.233C>A (p.Thr78Lys) c.284C>A (p.Thr95Lys) | gnomAD v4 |
| 17 | g.41769654T>A | CA399506012 | JUP | c.232A>T (p.Thr78Ser) c.283A>T (p.Thr95Ser) | |
| 17 | g.41769654T>C | CA399506016 | JUP | c.232A>G (p.Thr78Ala) c.283A>G (p.Thr95Ala) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41769654T>G | CA399506017 | JUP | c.232A>C (p.Thr78Pro) c.283A>C (p.Thr95Pro) | |
| 17 | g.41769654T= | CA2260176253 | JUP | c.232A= (p.Thr78=) c.283A= (p.Thr95=) | |
| 17 | g.41769655G>A | CA500207932 | JUP | c.231C>T (p.Ser77=) c.282C>T (p.Ser94=) | gnomAD v4 |
| 17 | g.41769655G>C | CA500207929 | JUP | c.231C>G (p.Ser77=) c.282C>G (p.Ser94=) | |
| 17 | g.41769655G>T | CA500207931 | JUP | c.231C>A (p.Ser77=) c.282C>A (p.Ser94=) | |
| 17 | g.41769656G>A | CA8565543 | JUP | c.230C>T (p.Ser77Phe) c.281C>T (p.Ser94Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769656G>C | CA399506024 | JUP | c.230C>G (p.Ser77Cys) c.281C>G (p.Ser94Cys) | |
| 17 | g.41769656G= | CA2260176254 | JUP | c.230C= (p.Ser77=) c.281C= (p.Ser94=) | |
| 17 | g.41769656G>T | CA399506021 | JUP | c.230C>A (p.Ser77Tyr) c.281C>A (p.Ser94Tyr) | dbSNP gnomAD v4 |
| 17 | g.41769657A>C | CA399506029 | JUP | c.229T>G (p.Ser77Ala) c.280T>G (p.Ser94Ala) | |
| 17 | g.41769657A>G | CA399506034 | JUP | c.229T>C (p.Ser77Pro) c.280T>C (p.Ser94Pro) | ClinVar gnomAD v4 |
| 17 | g.41769657A>T | CA399506032 | JUP | c.229T>A (p.Ser77Thr) c.280T>A (p.Ser94Thr) | |
| 17 | g.41769658C>A | CA399506036 | JUP | c.228G>T (p.Met76Ile) c.279G>T (p.Met93Ile) | gnomAD v4 |
| 17 | g.41769658C= | CA2260176255 | JUP | c.228G= (p.Met76=) c.279G= (p.Met93=) | |
| 17 | g.41769658C>G | CA399506038 | JUP | c.228G>C (p.Met76Ile) c.279G>C (p.Met93Ile) | |
| 17 | g.41769658C>T | CA8565544 | JUP | c.228G>A (p.Met76Ile) c.279G>A (p.Met93Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769659A= | CA2260176256 | JUP | c.227T= (p.Met76=) c.278T= (p.Met93=) | |
| 17 | g.41769659A>C | CA8565545 | JUP | c.227T>G (p.Met76Arg) c.278T>G (p.Met93Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769659A>G | CA399506043 | JUP | c.227T>C (p.Met76Thr) c.278T>C (p.Met93Thr) | |
| 17 | g.41769659A>T | CA399506046 | JUP | c.227T>A (p.Met76Lys) c.278T>A (p.Met93Lys) | |
| 17 | g.41769660T>A | CA399506049 | JUP | c.226A>T (p.Met76Leu) c.277A>T (p.Met93Leu) | |
| 17 | g.41769660T>C | CA399506051 | JUP | c.226A>G (p.Met76Val) c.277A>G (p.Met93Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769660T>G | CA8565546 | JUP | c.226A>C (p.Met76Leu) c.277A>C (p.Met93Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769660T= | CA2260176257 | JUP | c.226A= (p.Met76=) c.277A= (p.Met93=) | |
| 17 | g.41769661C>A | CA399506066 | JUP | c.225G>T (p.Gln75His) c.276G>T (p.Gln92His) | gnomAD v4 |
| 17 | g.41769661C>G | CA399506069 | JUP | c.225G>C (p.Gln75His) c.276G>C (p.Gln92His) | |
| 17 | g.41769661C>T | CA500207943 | JUP | c.225G>A (p.Gln75=) c.276G>A (p.Gln92=) | gnomAD v4 |
| 17 | g.41769662T>A | CA399506083 | JUP | c.224A>T (p.Gln75Leu) c.275A>T (p.Gln92Leu) | |
| 17 | g.41769662T>C | CA399506088 | JUP | c.224A>G (p.Gln75Arg) c.275A>G (p.Gln92Arg) | gnomAD v4 |
| 17 | g.41769662T>G | CA399506090 | JUP | c.224A>C (p.Gln75Pro) c.275A>C (p.Gln92Pro) | |
| 17 | g.41769663G>A | CA399506100 | JUP | c.223C>T (p.Gln75Ter) c.274C>T (p.Gln92Ter) | |
| 17 | g.41769663G>C | CA399506093 | JUP | c.223C>G (p.Gln75Glu) c.274C>G (p.Gln92Glu) | |
| 17 | g.41769663G>T | CA399506096 | JUP | c.223C>A (p.Gln75Lys) c.274C>A (p.Gln92Lys) | |
| 17 | g.41769664del | CA2695238932 | JUP | c.223del (p.Gln75ArgfsTer?) c.274del (p.Gln92ArgfsTer?) | |
| 17 | g.41769664G>A | CA500207948 | JUP | c.222C>T (p.Tyr74=) c.273C>T (p.Tyr91=) | gnomAD v4 |
| 17 | g.41769664G>C | CA399506103 | JUP | c.222C>G (p.Tyr74Ter) c.273C>G (p.Tyr91Ter) | ClinVar dbSNP |
| 17 | g.41769664G>T | CA399506105 | JUP | c.222C>A (p.Tyr74Ter) c.273C>A (p.Tyr91Ter) | gnomAD v4 |
| 17 | g.41769665T>A | CA399506108 | JUP | c.221A>T (p.Tyr74Phe) c.272A>T (p.Tyr91Phe) | |
| 17 | g.41769665T>C | CA399506109 | JUP | c.221A>G (p.Tyr74Cys) c.272A>G (p.Tyr91Cys) | |
| 17 | g.41769665T>G | CA399506110 | JUP | c.221A>C (p.Tyr74Ser) c.272A>C (p.Tyr91Ser) | gnomAD v4 |
| 17 | g.41769666A>C | CA399506111 | JUP | c.220T>G (p.Tyr74Asp) c.271T>G (p.Tyr91Asp) | |
| 17 | g.41769666A>G | CA399506112 | JUP | c.220T>C (p.Tyr74His) c.271T>C (p.Tyr91His) | gnomAD v4 |
| 17 | g.41769666A>T | CA399506113 | JUP | c.220T>A (p.Tyr74Asn) c.271T>A (p.Tyr91Asn) | |
| 17 | g.41769667C>A | CA399506115 | JUP | c.219G>T (p.Glu73Asp) c.270G>T (p.Glu90Asp) | |
| 17 | g.41769667C>G | CA399506117 | JUP | c.219G>C (p.Glu73Asp) c.270G>C (p.Glu90Asp) | |
| 17 | g.41769667C>T | CA500207956 | JUP | c.219G>A (p.Glu73=) c.270G>A (p.Glu90=) | gnomAD v4 |
| 17 | g.41769668T>A | CA399506125 | JUP | c.218A>T (p.Glu73Val) c.269A>T (p.Glu90Val) | |
| 17 | g.41769668T>C | CA399506134 | JUP | c.218A>G (p.Glu73Gly) c.269A>G (p.Glu90Gly) | |
| 17 | g.41769668T>G | CA8565547 | JUP | c.218A>C (p.Glu73Ala) c.269A>C (p.Glu90Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769668T= | CA2260176258 | JUP | c.218A= (p.Glu73=) c.269A= (p.Glu90=) | |
| 17 | g.41769669C>A | CA399506139 | JUP | c.217G>T (p.Glu73Ter) c.268G>T (p.Glu90Ter) | gnomAD v4 |
| 17 | g.41769669C= | CA2260176259 | JUP | c.217G= (p.Glu73=) c.268G= (p.Glu90=) | |
| 17 | g.41769669C>G | CA399506144 | JUP | c.217G>C (p.Glu73Gln) c.268G>C (p.Glu90Gln) | |
| 17 | g.41769669C>T | CA399506146 | JUP | c.217G>A (p.Glu73Lys) c.268G>A (p.Glu90Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769670del | CA2637860444 | JUP | c.217del (p.Glu73SerfsTer?) c.268del (p.Glu90SerfsTer?) | gnomAD v4 |
| 17 | g.41769670C>A | CA500207961 | JUP | c.216G>T (p.Leu72=) c.267G>T (p.Leu89=) | gnomAD v4 |
| 17 | g.41769670C>G | CA500207963 | JUP | c.216G>C (p.Leu72=) c.267G>C (p.Leu89=) | gnomAD v4 |
| 17 | g.41769670C>T | CA500207965 | JUP | c.216G>A (p.Leu72=) c.267G>A (p.Leu89=) | |
| 17 | g.41769671A>C | CA399506149 | JUP | c.215T>G (p.Leu72Arg) c.266T>G (p.Leu89Arg) | |
| 17 | g.41769671A>G | CA399506151 | JUP | c.215T>C (p.Leu72Pro) c.266T>C (p.Leu89Pro) | gnomAD v4 |
| 17 | g.41769671A>T | CA399506156 | JUP | c.215T>A (p.Leu72Gln) c.266T>A (p.Leu89Gln) | gnomAD v4 |
| 17 | g.41769672G>A | CA500207968 | JUP | c.214C>T (p.Leu72=) c.265C>T (p.Leu89=) | |
| 17 | g.41769672G>C | CA399506160 | JUP | c.214C>G (p.Leu72Val) c.265C>G (p.Leu89Val) | gnomAD v4 |
| 17 | g.41769672G>T | CA399506169 | JUP | c.214C>A (p.Leu72Met) c.265C>A (p.Leu89Met) | gnomAD v4 |
| 17 | g.41769673A= | CA2260176260 | JUP | c.213T= (p.Asp71=) c.264T= (p.Asp88=) | |
| 17 | g.41769673A>C | CA399506173 | JUP | c.213T>G (p.Asp71Glu) c.264T>G (p.Asp88Glu) | |
| 17 | g.41769673A>G | CA137183 | JUP | c.213T>C (p.Asp71=) c.264T>C (p.Asp88=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769673A>T | CA8565548 | JUP | c.213T>A (p.Asp71Glu) c.264T>A (p.Asp88Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769673_41769675delinsGTA | CA2580093935 | JUP | c.211_213delinsTAC (p.Asp71Tyr) c.262_264delinsTAC (p.Asp88Tyr) | ClinVar |
| 17 | g.41769674T>A | CA399506187 | JUP | c.212A>T (p.Asp71Val) c.263A>T (p.Asp88Val) | |
| 17 | g.41769674T>C | CA399506189 | JUP | c.212A>G (p.Asp71Gly) c.263A>G (p.Asp88Gly) | |
| 17 | g.41769674T>G | CA399506184 | JUP | c.212A>C (p.Asp71Ala) c.263A>C (p.Asp88Ala) | |
| 17 | g.41769675C>A | CA8565549 | JUP | c.211G>T (p.Asp71Tyr) c.262G>T (p.Asp88Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769675C= | CA2260176261 | JUP | c.211G= (p.Asp71=) c.262G= (p.Asp88=) | |
| 17 | g.41769675C>G | CA399506201 | JUP | c.211G>C (p.Asp71His) c.262G>C (p.Asp88His) | gnomAD v4 |
| 17 | g.41769675C>T | CA399506215 | JUP | c.211G>A (p.Asp71Asn) c.262G>A (p.Asp88Asn) | |
| 17 | g.41769676A= | CA2260176262 | JUP | c.210T= (p.Gly70=) c.261T= (p.Gly87=) | |
| 17 | g.41769676A>C | CA500207976 | JUP | c.210T>G (p.Gly70=) c.261T>G (p.Gly87=) | COSMIC |
| 17 | g.41769676A>G | CA8565550 | JUP | c.210T>C (p.Gly70=) c.261T>C (p.Gly87=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769676A>T | CA500207978 | JUP | c.210T>A (p.Gly70=) c.261T>A (p.Gly87=) | |
| 17 | g.41769677C>A | CA399506223 | JUP | c.209G>T (p.Gly70Val) c.260G>T (p.Gly87Val) | gnomAD v4 |
| 17 | g.41769677C= | CA2260176263 | JUP | c.209G= (p.Gly70=) c.260G= (p.Gly87=) | |
| 17 | g.41769677C>G | CA308446 | JUP | c.209G>C (p.Gly70Ala) c.260G>C (p.Gly87Ala) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41769677C>T | CA399506220 | JUP | c.209G>A (p.Gly70Asp) c.260G>A (p.Gly87Asp) | ClinVar |
| 17 | g.41769678C>A | CA399506226 | JUP | c.209-1G>T (n.209-1G>T) c.260-1G>T (n.260-1G>T) | gnomAD v4 |
| 17 | g.41769678C>G | CA399506228 | JUP | c.209-1G>C (n.209-1G>C) c.260-1G>C (n.260-1G>C) | |
| 17 | g.41769678C>T | CA399506230 | JUP | c.209-1G>A (n.209-1G>A) c.260-1G>A (n.260-1G>A) | |
| 17 | g.41769679T>A | CA399506231 | JUP | c.209-2A>T (n.209-2A>T) c.260-2A>T (n.260-2A>T) | |
| 17 | g.41769679T>C | CA399506232 | JUP | c.209-2A>G (n.209-2A>G) c.260-2A>G (n.260-2A>G) | |
| 17 | g.41769679T>G | CA399506235 | JUP | c.209-2A>C (n.209-2A>C) c.260-2A>C (n.260-2A>C) | |
| 17 | g.41769679_41769680delinsTG | CA2260176264 | JUP | c.209-3_209-2delinsCA (n.209-3_209-2delinsCA) c.260-3_260-2delinsCA (n.260-3_260-2delinsCA) | |
| 17 | g.41769680G>A | CA626215896 | JUP | c.209-3C>T (n.209-3C>T) c.260-3C>T (n.260-3C>T) | dbSNP gnomAD v2 |
| 17 | g.41769680G= | CA2260176265 | JUP | c.209-3C= (n.209-3C=) c.260-3C= (n.260-3C=) | |
| 17 | g.41769680G>T | CA2637860462 | JUP | c.209-3C>A (n.209-3C>A) c.260-3C>A (n.260-3C>A) | gnomAD v4 |
| 17 | g.41769684del | CA290700953 | JUP | c.209-3del (n.209-3del) c.260-3del (n.260-3del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769681G>A | CA2637860463 | JUP | c.209-4C>T (n.209-4C>T) c.260-4C>T (n.260-4C>T) | gnomAD v4 |
| 17 | g.41769681G>C | CA658798828 | JUP | c.209-4C>G (n.209-4C>G) c.260-4C>G (n.260-4C>G) | ClinVar dbSNP |
| 17 | g.41769681G= | CA2260176266 | JUP | c.209-4C= (n.209-4C=) c.260-4C= (n.260-4C=) | |
| 17 | g.41769682G>A | CA2637860464 | JUP | c.209-5C>T (n.209-5C>T) c.260-5C>T (n.260-5C>T) | gnomAD v4 |
| 17 | g.41769682G>T | CA2637860465 | JUP | c.209-5C>A (n.209-5C>A) c.260-5C>A (n.260-5C>A) | gnomAD v4 |
| 17 | g.41769683G>A | CA2637860466 | JUP | c.209-6C>T (n.209-6C>T) c.260-6C>T (n.260-6C>T) | gnomAD v4 |
| 17 | g.41769683G>T | CA2637860467 | JUP | c.209-6C>A (n.209-6C>A) c.260-6C>A (n.260-6C>A) | gnomAD v4 |
| 17 | g.41769684G>A | CA626215897 | JUP | c.209-7C>T (n.209-7C>T) c.260-7C>T (n.260-7C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769684G= | CA2260176267 | JUP | c.209-7C= (n.209-7C=) c.260-7C= (n.260-7C=) | |
| 17 | g.41769684G>T | CA500207993 | JUP | c.209-7C>A (n.209-7C>A) c.260-7C>A (n.260-7C>A) | gnomAD v4 |
| 17 | g.41769685C>A | CA2637860468 | JUP | c.209-8G>T (n.209-8G>T) c.260-8G>T (n.260-8G>T) | gnomAD v4 |
| 17 | g.41769685C= | CA2260176268 | JUP | c.209-8G= (n.209-8G=) c.260-8G= (n.260-8G=) | |
| 17 | g.41769685C>G | CA2637860469 | JUP | c.209-8G>C (n.209-8G>C) c.260-8G>C (n.260-8G>C) | gnomAD v4 |
| 17 | g.41769685C>T | CA626215898 | JUP | c.209-8G>A (n.209-8G>A) c.260-8G>A (n.260-8G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769686C= | CA2260176269 | JUP | c.209-9G= (n.209-9G=) c.260-9G= (n.260-9G=) | |
| 17 | g.41769686C>T | CA772070644 | JUP | c.209-9G>A (n.209-9G>A) c.260-9G>A (n.260-9G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769687A= | CA2260176271 | JUP | c.209-10T= (n.209-10T=) c.260-10T= (n.260-10T=) | |
| 17 | g.41769687A>G | CA983767323 | JUP | c.209-10T>C (n.209-10T>C) c.260-10T>C (n.260-10T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769687_41769688delinsAT | CA2260176270 | JUP | c.209-11_209-10delinsAT (n.209-11_209-10delinsAT) c.260-11_260-10delinsAT (n.260-11_260-10delinsAT) | |
| 17 | g.41769688del | CA772070646 | JUP | c.209-11del (n.209-11del) c.260-11del (n.260-11del) | dbSNP |
| 17 | g.41769688T>C | CA2637860470 | JUP | c.209-11A>G (n.209-11A>G) c.260-11A>G (n.260-11A>G) | gnomAD v4 |
| 17 | g.41769688T>G | CA2637860471 | JUP | c.209-11A>C (n.209-11A>C) c.260-11A>C (n.260-11A>C) | gnomAD v4 |
| 17 | g.41769689G>A | CA290700956 | JUP | c.209-12C>T (n.209-12C>T) c.260-12C>T (n.260-12C>T) | dbSNP gnomAD v4 |
| 17 | g.41769689G>C | CA8565551 | JUP | c.209-12C>G (n.209-12C>G) c.260-12C>G (n.260-12C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769689G= | CA2260176272 | JUP | c.209-12C= (n.209-12C=) c.260-12C= (n.260-12C=) | |
| 17 | g.41769689G>T | CA2637860473 | JUP | c.209-12C>A (n.209-12C>A) c.260-12C>A (n.260-12C>A) | gnomAD v4 |
| 17 | g.41769692del | CA2637860472 | JUP | c.209-12del (n.209-12del) c.260-12del (n.260-12del) | gnomAD v4 |
| 17 | g.41769690G>A | CA626215899 | JUP | c.209-13C>T (n.209-13C>T) c.260-13C>T (n.260-13C>T) | dbSNP gnomAD v2 |
| 17 | g.41769690G= | CA2260176273 | JUP | c.209-13C= (n.209-13C=) c.260-13C= (n.260-13C=) | |
| 17 | g.41769690G>T | CA2637860474 | JUP | c.209-13C>A (n.209-13C>A) c.260-13C>A (n.260-13C>A) | gnomAD v4 |
| 17 | g.41769690_41769693delinsGGGA | CA2260176274 | JUP | c.209-16_209-13delinsTCCC (n.209-16_209-13delinsTCCC) c.260-16_260-13delinsTCCC (n.260-16_260-13delinsTCCC) | |
| 17 | g.41769691G>A | CA626215900 | JUP | c.209-14C>T (n.209-14C>T) c.260-14C>T (n.260-14C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769691G= | CA2260176276 | JUP | c.209-14C= (n.209-14C=) c.260-14C= (n.260-14C=) | |
| 17 | g.41769691G>T | CA626215901 | JUP | c.209-14C>A (n.209-14C>A) c.260-14C>A (n.260-14C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769691_41769693del | CA2260176275 | JUP | c.209-16_209-14del (n.209-16_209-14del) c.260-16_260-14del (n.260-16_260-14del) | dbSNP |
| 17 | g.41769692G>A | CA2637860476 | JUP | c.209-15C>T (n.209-15C>T) c.260-15C>T (n.260-15C>T) | gnomAD v4 |
| 17 | g.41769692G>T | CA2637860475 | JUP | c.209-15C>A (n.209-15C>A) c.260-15C>A (n.260-15C>A) | gnomAD v4 |
| 17 | g.41769693A>G | CA2576269019 | JUP | c.209-16T>C (n.209-16T>C) c.260-16T>C (n.260-16T>C) | |
| 17 | g.41769694C>A | CA626215902 | JUP | c.209-17G>T (n.209-17G>T) c.260-17G>T (n.260-17G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769694C= | CA2260176277 | JUP | c.209-17G= (n.209-17G=) c.260-17G= (n.260-17G=) | |
| 17 | g.41769695A= | CA2260176278 | JUP | c.209-18T= (n.209-18T=) c.260-18T= (n.260-18T=) | |
| 17 | g.41769695A>G | CA626215903 | JUP | c.209-18T>C (n.209-18T>C) c.260-18T>C (n.260-18T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769696G>A | CA626215904 | JUP | c.209-19C>T (n.209-19C>T) c.260-19C>T (n.260-19C>T) | dbSNP gnomAD v2 |
| 17 | g.41769696G= | CA2260176279 | JUP | c.209-19C= (n.209-19C=) c.260-19C= (n.260-19C=) | |
| 17 | g.41769696G>T | CA2637860477 | JUP | c.209-19C>A (n.209-19C>A) c.260-19C>A (n.260-19C>A) | gnomAD v4 |
| 17 | g.41769697G>A | CA626215905 | JUP | c.209-20C>T (n.209-20C>T) c.260-20C>T (n.260-20C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769697G>C | CA2637860478 | JUP | c.209-20C>G (n.209-20C>G) c.260-20C>G (n.260-20C>G) | gnomAD v4 |
| 17 | g.41769697G= | CA2260176280 | JUP | c.209-20C= (n.209-20C=) c.260-20C= (n.260-20C=) | |
| 17 | g.41769697G>T | CA2637860479 | JUP | c.209-20C>A (n.209-20C>A) c.260-20C>A (n.260-20C>A) | gnomAD v4 |
| 17 | g.41769698G>A | CA772070655 | JUP | c.209-21C>T (n.209-21C>T) c.260-21C>T (n.260-21C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769698G= | CA2260176281 | JUP | c.209-21C= (n.209-21C=) c.260-21C= (n.260-21C=) | |
| 17 | g.41769698G>T | CA2637860480 | JUP | c.209-21C>A (n.209-21C>A) c.260-21C>A (n.260-21C>A) | gnomAD v4 |
| 17 | g.41769699A>G | CA2637860481 | JUP | c.209-22T>C (n.209-22T>C) c.260-22T>C (n.260-22T>C) | gnomAD v4 |
| 17 | g.41769700C>A | CA626215906 | JUP | c.209-23G>T (n.209-23G>T) c.260-23G>T (n.260-23G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769700C= | CA2260176282 | JUP | c.209-23G= (n.209-23G=) c.260-23G= (n.260-23G=) | |
| 17 | g.41769701T>A | CA983767331 | JUP | c.209-24A>T (n.209-24A>T) c.260-24A>T (n.260-24A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769701T>C | CA2637860482 | JUP | c.209-24A>G (n.209-24A>G) c.260-24A>G (n.260-24A>G) | gnomAD v4 |
| 17 | g.41769701T= | CA2260176283 | JUP | c.209-24A= (n.209-24A=) c.260-24A= (n.260-24A=) | |
| 17 | g.41769702G>A | CA626215907 | JUP | c.209-25C>T (n.209-25C>T) c.260-25C>T (n.260-25C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769702G= | CA2260176284 | JUP | c.209-25C= (n.209-25C=) c.260-25C= (n.260-25C=) | |
| 17 | g.41769702G>T | CA2637860483 | JUP | c.209-25C>A (n.209-25C>A) c.260-25C>A (n.260-25C>A) | gnomAD v4 |
| 17 | g.41769703A= | CA2260176285 | JUP | c.209-26T= (n.209-26T=) c.260-26T= (n.260-26T=) | |
| 17 | g.41769703A>G | CA772070657 | JUP | c.209-26T>C (n.209-26T>C) c.260-26T>C (n.260-26T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769704G>T | CA2637860484 | JUP | c.209-27C>A (n.209-27C>A) c.260-27C>A (n.260-27C>A) | gnomAD v4 |
| 17 | g.41769705T>A | CA2637860486 | JUP | c.209-28A>T (n.209-28A>T) c.260-28A>T (n.260-28A>T) | gnomAD v4 |
| 17 | g.41769705T>C | CA2637860485 | JUP | c.209-28A>G (n.209-28A>G) c.260-28A>G (n.260-28A>G) | gnomAD v4 |
| 17 | g.41769706G>A | CA2637860487 | JUP | c.209-29C>T (n.209-29C>T) c.260-29C>T (n.260-29C>T) | gnomAD v4 |
| 17 | g.41769706G>T | CA2637860488 | JUP | c.209-29C>A (n.209-29C>A) c.260-29C>A (n.260-29C>A) | gnomAD v4 |
| 17 | g.41769706_41769708delinsGCA | CA2260176286 | JUP | c.209-31_209-29delinsTGC (n.209-31_209-29delinsTGC) c.260-31_260-29delinsTGC (n.260-31_260-29delinsTGC) | |
| 17 | g.41769707C>A | CA8565553 | JUP | c.209-30G>T (n.209-30G>T) c.260-30G>T (n.260-30G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769707C= | CA2260176287 | JUP | c.209-30G= (n.209-30G=) c.260-30G= (n.260-30G=) | |
| 17 | g.41769707C>T | CA2637860489 | JUP | c.209-30G>A (n.209-30G>A) c.260-30G>A (n.260-30G>A) | gnomAD v4 |
| 17 | g.41769707_41769708del | CA8565552 | JUP | c.209-31_209-30del (n.209-31_209-30del) c.260-31_260-30del (n.260-31_260-30del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769708A>G | CA2637860490 | JUP | c.209-31T>C (n.209-31T>C) c.260-31T>C (n.260-31T>C) | gnomAD v4 |
| 17 | g.41769709G>A | CA772070664 | JUP | c.209-32C>T (n.209-32C>T) c.260-32C>T (n.260-32C>T) | dbSNP gnomAD v4 |
| 17 | g.41769709G= | CA2260176288 | JUP | c.209-32C= (n.209-32C=) c.260-32C= (n.260-32C=) | |
| 17 | g.41769709G>T | CA2637860492 | JUP | c.209-32C>A (n.209-32C>A) c.260-32C>A (n.260-32C>A) | gnomAD v4 |
| 17 | g.41769710G>A | CA2637860493 | JUP | c.209-33C>T (n.209-33C>T) c.260-33C>T (n.260-33C>T) | gnomAD v4 |
| 17 | g.41769710G>T | CA2637860494 | JUP | c.209-33C>A (n.209-33C>A) c.260-33C>A (n.260-33C>A) | gnomAD v4 |
| 17 | g.41769710_41769752delinsGCAGTGGGCTGGGCAGACACTGGGGAGCAGGGCAGGCCACAGA | CA2260176289 | JUP | c.209-75_209-33delinsTCTGTGGCCTGCCCTGCTCCCCAGTGTCTGCCCAGCCCACTGC (n.209-75_209-33delinsTCTGTGGCCTGCCCTGCTCCCCAGTGTCTGCCCAGCCCACTGC) c.260-75_260-33delinsTCTGTGGCCTGCCCTGCTCCCCAGTGTCTGCCCAGCCCACTGC (n.260-75_260-33delinsTCTGTGGCCTGCCCTGCTCCCCAGTGTCTGCCCAGCCCACTGC) | |
| 17 | g.41769711C>A | CA772070665 | JUP | c.209-34G>T (n.209-34G>T) c.260-34G>T (n.260-34G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769711C= | CA2260176290 | JUP | c.209-34G= (n.209-34G=) c.260-34G= (n.260-34G=) | |
| 17 | g.41769711C>T | CA772070666 | JUP | c.209-34G>A (n.209-34G>A) c.260-34G>A (n.260-34G>A) | dbSNP gnomAD v4 |
| 17 | g.41769714_41769755del | CA626215908 | JUP | c.209-75_209-34del (n.209-75_209-34del) c.260-75_260-34del (n.260-75_260-34del) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769712A= | CA2260176291 | JUP | c.209-35T= (n.209-35T=) c.260-35T= (n.260-35T=) | |
| 17 | g.41769712A>C | CA8565554 | JUP | c.209-35T>G (n.209-35T>G) c.260-35T>G (n.260-35T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769713G>A | CA8565555 | JUP | c.209-36C>T (n.209-36C>T) c.260-36C>T (n.260-36C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769713G= | CA2260176292 | JUP | c.209-36C= (n.209-36C=) c.260-36C= (n.260-36C=) | |
| 17 | g.41769713G>T | CA2637860495 | JUP | c.209-36C>A (n.209-36C>A) c.260-36C>A (n.260-36C>A) | gnomAD v4 |
| 17 | g.41769714T>C | CA772070671 | JUP | c.209-37A>G (n.209-37A>G) c.260-37A>G (n.260-37A>G) | dbSNP gnomAD v4 |
| 17 | g.41769714T= | CA2260176293 | JUP | c.209-37A= (n.209-37A=) c.260-37A= (n.260-37A=) | |
| 17 | g.41769715G>A | CA626215909 | JUP | c.209-38C>T (n.209-38C>T) c.260-38C>T (n.260-38C>T) | dbSNP gnomAD v2 |
| 17 | g.41769715G= | CA2260176294 | JUP | c.209-38C= (n.209-38C=) c.260-38C= (n.260-38C=) | |
| 17 | g.41769715G>T | CA2637860497 | JUP | c.209-38C>A (n.209-38C>A) c.260-38C>A (n.260-38C>A) | gnomAD v4 |
| 17 | g.41769717del | CA2637860496 | JUP | c.209-38del (n.209-38del) c.260-38del (n.260-38del) | gnomAD v4 |
| 17 | g.41769716G>A | CA290700966 | JUP | c.209-39C>T (n.209-39C>T) c.260-39C>T (n.260-39C>T) | dbSNP gnomAD v4 |
| 17 | g.41769716G= | CA2260176295 | JUP | c.209-39C= (n.209-39C=) c.260-39C= (n.260-39C=) | |
| 17 | g.41769716G>T | CA2637860498 | JUP | c.209-39C>A (n.209-39C>A) c.260-39C>A (n.260-39C>A) | gnomAD v4 |
| 17 | g.41769717G>A | CA626215910 | JUP | c.209-40C>T (n.209-40C>T) c.260-40C>T (n.260-40C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769717G= | CA2260176296 | JUP | c.209-40C= (n.209-40C=) c.260-40C= (n.260-40C=) | |
| 17 | g.41769717G>T | CA2637860499 | JUP | c.209-40C>A (n.209-40C>A) c.260-40C>A (n.260-40C>A) | gnomAD v4 |
| 17 | g.41769718C>A | CA2637860500 | JUP | c.209-41G>T (n.209-41G>T) c.260-41G>T (n.260-41G>T) | gnomAD v4 |
| 17 | g.41769718C>T | CA2637860501 | JUP | c.209-41G>A (n.209-41G>A) c.260-41G>A (n.260-41G>A) | gnomAD v4 |
| 17 | g.41769719T>C | CA2637860502 | JUP | c.209-42A>G (n.209-42A>G) c.260-42A>G (n.260-42A>G) | gnomAD v4 |
| 17 | g.41769719T= | CA2260176297 | JUP | c.209-42A= (n.209-42A=) c.260-42A= (n.260-42A=) | |
| 17 | g.41769720G>A | CA8565556 | JUP | c.209-43C>T (n.209-43C>T) c.260-43C>T (n.260-43C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769720G= | CA2260176298 | JUP | c.209-43C= (n.209-43C=) c.260-43C= (n.260-43C=) | |
| 17 | g.41769720G>T | CA2637860503 | JUP | c.209-43C>A (n.209-43C>A) c.260-43C>A (n.260-43C>A) | gnomAD v4 |
| 17 | g.41769722del | CA2576269020 | JUP | c.209-43del (n.209-43del) c.260-43del (n.260-43del) | gnomAD v4 |
| 17 | g.41769722_41769745dup | CA626215911 | JUP | c.209-66_209-43dup (n.209-66_209-43dup) c.260-66_260-43dup (n.260-66_260-43dup) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769721G>A | CA626215912 | JUP | c.209-44C>T (n.209-44C>T) c.260-44C>T (n.260-44C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769721G= | CA2260176299 | JUP | c.209-44C= (n.209-44C=) c.260-44C= (n.260-44C=) | |
| 17 | g.41769721G>T | CA2637860504 | JUP | c.209-44C>A (n.209-44C>A) c.260-44C>A (n.260-44C>A) | gnomAD v4 |
| 17 | g.41769722G>A | CA2539944158 | JUP | c.209-45C>T (n.209-45C>T) c.260-45C>T (n.260-45C>T) | gnomAD v4 |
| 17 | g.41769722G>T | CA2637860505 | JUP | c.209-45C>A (n.209-45C>A) c.260-45C>A (n.260-45C>A) | gnomAD v4 |
| 17 | g.41769723C>A | CA2637860506 | JUP | c.209-46G>T (n.209-46G>T) c.260-46G>T (n.260-46G>T) | gnomAD v4 |
| 17 | g.41769723C>T | CA2637860507 | JUP | c.209-46G>A (n.209-46G>A) c.260-46G>A (n.260-46G>A) | gnomAD v4 |
| 17 | g.41769724A>G | CA2637860508 | JUP | c.209-47T>C (n.209-47T>C) c.260-47T>C (n.260-47T>C) | gnomAD v4 |
| 17 | g.41769725G>A | CA2260176301 | JUP | c.209-48C>T (n.209-48C>T) c.260-48C>T (n.260-48C>T) | dbSNP gnomAD v4 |
| 17 | g.41769725G= | CA2260176300 | JUP | c.209-48C= (n.209-48C=) c.260-48C= (n.260-48C=) | |
| 17 | g.41769725G>T | CA2637860509 | JUP | c.209-48C>A (n.209-48C>A) c.260-48C>A (n.260-48C>A) | gnomAD v4 |