Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.190388282_190388285delinsAGGG | CA1428775826 | CLDN16 | c.-48_-45delinsAGGG (n.-48_-45delinsAGGG) c.163_166delinsAGGG (p.Arg55=) n.306+13679_306+13682delinsAGGG | |
3 | g.190388283_190388285del | CA2753710 | CLDN16 | c.-47_-45del (n.-47_-45del) c.164_166del (p.Arg55_Ala56delinsThr) n.306+13680_306+13682del | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.190388283_190388285delinsGGG | CA1428775835 | CLDN16 | c.-47_-45delinsGGG (n.-47_-45delinsGGG) c.164_166delinsGGG (p.Arg55=) n.306+13680_306+13682delinsGGG | |
3 | g.190388285dup | CA2704721010 | CLDN16 | c.-45dup (n.-45dup) c.166dup (p.Ala56GlyfsTer10) n.306+13682dup | dbSNP |
3 | g.190388285del | CA2753709 | CLDN16 | c.-45del (n.-45del) c.166del (p.Ala56LeufsTer16) n.306+13682del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
3 | g.190388284_190388285del | CA917094513 | CLDN16 | c.-46_-45del (n.-46_-45del) c.165_166del (p.Arg55SerfsTer10) n.306+13681_306+13682del | dbSNP |
3 | g.190388284_190388285delinsC | CA89749982 | CLDN16 | c.-46_-45delinsC (n.-46_-45delinsC) c.165_166delinsC (p.Arg55SerfsTer17) n.306+13681_306+13682delinsC | dbSNP |
3 | g.190388285G>A | CA355762448 | CLDN16 | c.-45G>A (n.-45G>A) c.166G>A (p.Ala56Thr) n.306+13682G>A | dbSNP |
3 | g.190388285G>C | CA2753712 | CLDN16 | c.-45G>C (n.-45G>C) c.166G>C (p.Ala56Pro) n.306+13682G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190388285G= | CA1428775851 | CLDN16 | c.-45G= (n.-45G=) c.166G= (p.Ala56=) n.306+13682G= | |
3 | g.190388285G>T | CA355762449 | CLDN16 | c.-45G>T (n.-45G>T) c.166G>T (p.Ala56Ser) n.306+13682G>T | |
3 | g.190388285_190388286insAC | CA2753713 | CLDN16 | c.-45_-44insAC (n.-45_-44insAC) c.166_167insAC (p.Ala56AspfsTer17) n.306+13682_306+13683insAC | dbSNP ExAC gnomAD v2 |
3 | g.190388286C>A | CA355762451 | CLDN16 | c.-44C>A (n.-44C>A) c.167C>A (p.Ala56Asp) n.306+13683C>A | |
3 | g.190388286C>G | CA355762452 | CLDN16 | c.-44C>G (n.-44C>G) c.167C>G (p.Ala56Gly) n.306+13683C>G | |
3 | g.190388286C>T | CA355762450 | CLDN16 | c.-44C>T (n.-44C>T) c.167C>T (p.Ala56Val) n.306+13683C>T | |
3 | g.190388287T>A | CA437637233 | CLDN16 | c.-43T>A (n.-43T>A) c.168T>A (p.Ala56=) n.306+13684T>A | |
3 | g.190388287T>C | CA437637232 | CLDN16 | c.-43T>C (n.-43T>C) c.168T>C (p.Ala56=) n.306+13684T>C | dbSNP |
3 | g.190388287T>G | CA437637231 | CLDN16 | c.-43T>G (n.-43T>G) c.168T>G (p.Ala56=) n.306+13684T>G | |
3 | g.190388287T= | CA1428775859 | CLDN16 | c.-43T= (n.-43T=) c.168T= (p.Ala56=) n.306+13684T= | |
3 | g.190388288G>A | CA355762453 | CLDN16 | c.-42G>A (n.-42G>A) c.169G>A (p.Gly57Ser) n.306+13685G>A | dbSNP |
3 | g.190388288G>C | CA2753714 | CLDN16 | c.-42G>C (n.-42G>C) c.169G>C (p.Gly57Arg) n.306+13685G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190388288G= | CA1428775863 | CLDN16 | c.-42G= (n.-42G=) c.169G= (p.Gly57=) n.306+13685G= | |
3 | g.190388288G>T | CA355762454 | CLDN16 | c.-42G>T (n.-42G>T) c.169G>T (p.Gly57Cys) n.306+13685G>T | |
3 | g.190388289G>A | CA355762455 | CLDN16 | c.-41G>A (n.-41G>A) c.170G>A (p.Gly57Asp) n.306+13686G>A | |
3 | g.190388289G>C | CA355762456 | CLDN16 | c.-41G>C (n.-41G>C) c.170G>C (p.Gly57Ala) n.306+13686G>C | ClinVar |
3 | g.190388289G= | CA1428775865 | CLDN16 | c.-41G= (n.-41G=) c.170G= (p.Gly57=) n.306+13686G= | |
3 | g.190388289G>T | CA2753715 | CLDN16 | c.-41G>T (n.-41G>T) c.170G>T (p.Gly57Val) n.306+13686G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190388290T>A | CA437637238 | CLDN16 | c.-40T>A (n.-40T>A) c.171T>A (p.Gly57=) n.306+13687T>A | |
3 | g.190388290T>C | CA437637237 | CLDN16 | c.-40T>C (n.-40T>C) c.171T>C (p.Gly57=) n.306+13687T>C | |
3 | g.190388290T>G | CA437637235 | CLDN16 | c.-40T>G (n.-40T>G) c.171T>G (p.Gly57=) n.306+13687T>G | dbSNP |
3 | g.190388290T= | CA1428775868 | CLDN16 | c.-40T= (n.-40T=) c.171T= (p.Gly57=) n.306+13687T= | |
3 | g.190388291G>A | CA355762457 | CLDN16 | c.-39G>A (n.-39G>A) c.172G>A (p.Val58Ile) n.306+13688G>A | |
3 | g.190388291G>C | CA355762458 | CLDN16 | c.-39G>C (n.-39G>C) c.172G>C (p.Val58Leu) n.306+13688G>C | |
3 | g.190388291G>T | CA355762459 | CLDN16 | c.-39G>T (n.-39G>T) c.172G>T (p.Val58Phe) n.306+13688G>T | |
3 | g.190388292T>A | CA355762460 | CLDN16 | c.-38T>A (n.-38T>A) c.173T>A (p.Val58Asp) n.306+13689T>A | |
3 | g.190388292T>C | CA355762461 | CLDN16 | c.-38T>C (n.-38T>C) c.173T>C (p.Val58Ala) n.306+13689T>C | dbSNP |
3 | g.190388292T>G | CA2753716 | CLDN16 | c.-38T>G (n.-38T>G) c.173T>G (p.Val58Gly) n.306+13689T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190388292T= | CA1428775873 | CLDN16 | c.-38T= (n.-38T=) c.173T= (p.Val58=) n.306+13689T= | |
3 | g.190388293C>A | CA437637239 | CLDN16 | c.-37C>A (n.-37C>A) c.174C>A (p.Val58=) n.306+13690C>A | |
3 | g.190388293C= | CA1428775877 | CLDN16 | c.-37C= (n.-37C=) c.174C= (p.Val58=) n.306+13690C= | |
3 | g.190388293C>G | CA437637241 | CLDN16 | c.-37C>G (n.-37C>G) c.174C>G (p.Val58=) n.306+13690C>G | |
3 | g.190388293C>T | CA437637240 | CLDN16 | c.-37C>T (n.-37C>T) c.174C>T (p.Val58=) n.306+13690C>T | |
3 | g.190388293_190388294insAGGA | CA1428775879 | CLDN16 | c.-37_-36insAGGA (n.-37_-36insAGGA) c.174_175insAGGA (p.Cys59ArgfsTer8) n.306+13690_306+13691insAGGA | dbSNP |
3 | g.190388294T>A | CA355762464 | CLDN16 | c.-36T>A (n.-36T>A) c.175T>A (p.Cys59Ser) n.306+13691T>A | |
3 | g.190388294T>C | CA355762462 | CLDN16 | c.-36T>C (n.-36T>C) c.175T>C (p.Cys59Arg) n.306+13691T>C | |
3 | g.190388294T>G | CA355762463 | CLDN16 | c.-36T>G (n.-36T>G) c.175T>G (p.Cys59Gly) n.306+13691T>G | |
3 | g.190388295G>A | CA355762465 | CLDN16 | c.-35G>A (n.-35G>A) c.176G>A (p.Cys59Tyr) n.306+13692G>A | |
3 | g.190388295G>C | CA2753717 | CLDN16 | c.-35G>C (n.-35G>C) c.176G>C (p.Cys59Ser) n.306+13692G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.190388295G= | CA1428775881 | CLDN16 | c.-35G= (n.-35G=) c.176G= (p.Cys59=) n.306+13692G= | |
3 | g.190388295G>T | CA355762466 | CLDN16 | c.-35G>T (n.-35G>T) c.176G>T (p.Cys59Phe) n.306+13692G>T | |
3 | g.190388296C>A | CA355762467 | CLDN16 | c.-34C>A (n.-34C>A) c.177C>A (p.Cys59Ter) n.306+13693C>A | |
3 | g.190388296C>G | CA355762468 | CLDN16 | c.-34C>G (n.-34C>G) c.177C>G (p.Cys59Trp) n.306+13693C>G | |
3 | g.190388296C>T | CA437637245 | CLDN16 | c.-34C>T (n.-34C>T) c.177C>T (p.Cys59=) n.306+13693C>T | gnomAD v4 |
3 | g.190388296_190388297delinsCC | CA1428775883 | CLDN16 | c.-34_-33delinsCC (n.-34_-33delinsCC) c.177_178delinsCC (p.Cys59=) n.306+13693_306+13694delinsCC | |
3 | g.190388297C>A | CA355762469 | CLDN16 | c.-33C>A (n.-33C>A) c.178C>A (p.Pro60Thr) n.306+13694C>A | |
3 | g.190388297C>G | CA355762470 | CLDN16 | c.-33C>G (n.-33C>G) c.178C>G (p.Pro60Ala) n.306+13694C>G | |
3 | g.190388297C>T | CA355762471 | CLDN16 | c.-33C>T (n.-33C>T) c.178C>T (p.Pro60Ser) n.306+13694C>T | |
3 | g.190388297delinsGATCT | CA89750052 | CLDN16 | c.-33delinsGATCT (n.-33delinsGATCT) c.178delinsGATCT (p.Pro60AspfsTer7) n.306+13694delinsGATCT | dbSNP |
3 | g.190388298C>A | CA355762472 | CLDN16 | c.-32C>A (n.-32C>A) c.179C>A (p.Pro60Gln) n.306+13695C>A | |
3 | g.190388298C= | CA1428775887 | CLDN16 | c.-32C= (n.-32C=) c.179C= (p.Pro60=) n.306+13695C= | |
3 | g.190388298C>G | CA355762473 | CLDN16 | c.-32C>G (n.-32C>G) c.179C>G (p.Pro60Arg) n.306+13695C>G | dbSNP |
3 | g.190388298C>T | CA355762474 | CLDN16 | c.-32C>T (n.-32C>T) c.179C>T (p.Pro60Leu) n.306+13695C>T | |
3 | g.190388299A>C | CA437637247 | CLDN16 | c.-31A>C (n.-31A>C) c.180A>C (p.Pro60=) n.306+13696A>C | |
3 | g.190388299A>G | CA437637248 | CLDN16 | c.-31A>G (n.-31A>G) c.180A>G (p.Pro60=) n.306+13696A>G | gnomAD v4 |
3 | g.190388299A>T | CA437637249 | CLDN16 | c.-31A>T (n.-31A>T) c.180A>T (p.Pro60=) n.306+13696A>T | |
3 | g.190388300T>A | CA355762475 | CLDN16 | c.-30T>A (n.-30T>A) c.181T>A (p.Cys61Ser) n.306+13697T>A | |
3 | g.190388300T>C | CA355762477 | CLDN16 | c.-30T>C (n.-30T>C) c.181T>C (p.Cys61Arg) n.306+13697T>C | gnomAD v4 |
3 | g.190388300T>G | CA355762476 | CLDN16 | c.-30T>G (n.-30T>G) c.181T>G (p.Cys61Gly) n.306+13697T>G | |
3 | g.190388300_190388314del | CA2524356004 | CLDN16 | c.-30_-16del (n.-30_-16del) c.181_195del (p.Cys61_Asp65del) n.306+13697_306+13711del | |
3 | g.190388301G>A | CA2753718 | CLDN16 | c.-29G>A (n.-29G>A) c.182G>A (p.Cys61Tyr) n.306+13698G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190388301G>C | CA355762479 | CLDN16 | c.-29G>C (n.-29G>C) c.182G>C (p.Cys61Ser) n.306+13698G>C | |
3 | g.190388301G= | CA1428775889 | CLDN16 | c.-29G= (n.-29G=) c.182G= (p.Cys61=) n.306+13698G= | |
3 | g.190388301G>T | CA355762478 | CLDN16 | c.-29G>T (n.-29G>T) c.182G>T (p.Cys61Phe) n.306+13698G>T | |
3 | g.190388302T>A | CA355762480 | CLDN16 | c.-28T>A (n.-28T>A) c.183T>A (p.Cys61Ter) n.306+13699T>A | |
3 | g.190388302T>C | CA437637250 | CLDN16 | c.-28T>C (n.-28T>C) c.183T>C (p.Cys61=) n.306+13699T>C | |
3 | g.190388302T>G | CA355762481 | CLDN16 | c.-28T>G (n.-28T>G) c.183T>G (p.Cys61Trp) n.306+13699T>G | |
3 | g.190388303T>A | CA355762482 | CLDN16 | c.-27T>A (n.-27T>A) c.184T>A (p.Cys62Ser) n.306+13700T>A | |
3 | g.190388303T>C | CA355762483 | CLDN16 | c.-27T>C (n.-27T>C) c.184T>C (p.Cys62Arg) n.306+13700T>C | |
3 | g.190388303T>G | CA355762484 | CLDN16 | c.-27T>G (n.-27T>G) c.184T>G (p.Cys62Gly) n.306+13700T>G | |
3 | g.190388304G>A | CA89750072 | CLDN16 | c.-26G>A (n.-26G>A) c.185G>A (p.Cys62Tyr) n.306+13701G>A | dbSNP gnomAD v4 |
3 | g.190388304G>C | CA355762485 | CLDN16 | c.-26G>C (n.-26G>C) c.185G>C (p.Cys62Ser) n.306+13701G>C | |
3 | g.190388304G= | CA1428775894 | CLDN16 | c.-26G= (n.-26G=) c.185G= (p.Cys62=) n.306+13701G= | |
3 | g.190388304G>T | CA355762486 | CLDN16 | c.-26G>T (n.-26G>T) c.185G>T (p.Cys62Phe) n.306+13701G>T | |
3 | g.190388305C>A | CA2753719 | CLDN16 | c.-25C>A (n.-25C>A) c.186C>A (p.Cys62Ter) n.306+13702C>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.190388305C= | CA1428775897 | CLDN16 | c.-25C= (n.-25C=) c.186C= (p.Cys62=) n.306+13702C= | |
3 | g.190388305C>G | CA355762487 | CLDN16 | c.-25C>G (n.-25C>G) c.186C>G (p.Cys62Trp) n.306+13702C>G | ClinVar gnomAD v4 |
3 | g.190388305C>T | CA437637253 | CLDN16 | c.-25C>T (n.-25C>T) c.186C>T (p.Cys62=) n.306+13702C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190388306C>A | CA355762490 | CLDN16 | c.-24C>A (n.-24C>A) c.187C>A (p.His63Asn) n.306+13703C>A | |
3 | g.190388306C= | CA1428775902 | CLDN16 | c.-24C= (n.-24C=) c.187C= (p.His63=) n.306+13703C= | |
3 | g.190388306C>G | CA355762489 | CLDN16 | c.-24C>G (n.-24C>G) c.187C>G (p.His63Asp) n.306+13703C>G | |
3 | g.190388306C>T | CA355762488 | CLDN16 | c.-24C>T (n.-24C>T) c.187C>T (p.His63Tyr) n.306+13703C>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.190388307A= | CA1428775907 | CLDN16 | c.-23A= (n.-23A=) c.188A= (p.His63=) n.306+13704A= | |
3 | g.190388307A>C | CA355762491 | CLDN16 | c.-23A>C (n.-23A>C) c.188A>C (p.His63Pro) n.306+13704A>C | |
3 | g.190388307A>G | CA2753720 | CLDN16 | c.-23A>G (n.-23A>G) c.188A>G (p.His63Arg) n.306+13704A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190388307A>T | CA355762492 | CLDN16 | c.-23A>T (n.-23A>T) c.188A>T (p.His63Leu) n.306+13704A>T | |
3 | g.190388308T>A | CA355762493 | CLDN16 | c.-22T>A (n.-22T>A) c.189T>A (p.His63Gln) n.306+13705T>A | |
3 | g.190388308T>C | CA437637258 | CLDN16 | c.-22T>C (n.-22T>C) c.189T>C (p.His63=) n.306+13705T>C | |
3 | g.190388308T>G | CA355762494 | CLDN16 | c.-22T>G (n.-22T>G) c.189T>G (p.His63Gln) n.306+13705T>G | |
3 | g.190388309C>A | CA355762495 | CLDN16 | c.-21C>A (n.-21C>A) c.190C>A (p.Pro64Thr) n.306+13706C>A | |
3 | g.190388309C= | CA1428775910 | CLDN16 | c.-21C= (n.-21C=) c.190C= (p.Pro64=) n.306+13706C= | |
3 | g.190388309C>G | CA355762496 | CLDN16 | c.-21C>G (n.-21C>G) c.190C>G (p.Pro64Ala) n.306+13706C>G | gnomAD v4 |
3 | g.190388309C>T | CA2753721 | CLDN16 | c.-21C>T (n.-21C>T) c.190C>T (p.Pro64Ser) n.306+13706C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.190388310C>A | CA355762497 | CLDN16 | c.-20C>A (n.-20C>A) c.191C>A (p.Pro64His) n.306+13707C>A | |
3 | g.190388310C>G | CA355762498 | CLDN16 | c.-20C>G (n.-20C>G) c.191C>G (p.Pro64Arg) n.306+13707C>G | |
3 | g.190388310C>T | CA355762499 | CLDN16 | c.-20C>T (n.-20C>T) c.191C>T (p.Pro64Leu) n.306+13707C>T | dbSNP |
3 | g.190388310_190388312delinsCTG | CA1428775913 | CLDN16 | c.-20_-18delinsCTG (n.-20_-18delinsCTG) c.191_193delinsCTG (p.Pro64=) n.306+13707_306+13709delinsCTG | |
3 | g.190388311T>A | CA437637262 | CLDN16 | c.-19T>A (n.-19T>A) c.192T>A (p.Pro64=) n.306+13708T>A | |
3 | g.190388311T>C | CA437637263 | CLDN16 | c.-19T>C (n.-19T>C) c.192T>C (p.Pro64=) n.306+13708T>C | |
3 | g.190388311T>G | CA437637264 | CLDN16 | c.-19T>G (n.-19T>G) c.192T>G (p.Pro64=) n.306+13708T>G | dbSNP |
3 | g.190388311_190388312del | CA89750111 | CLDN16 | c.-19_-18del (n.-19_-18del) c.192_193del (p.Asp65TrpfsTer?) n.306+13708_306+13709del | dbSNP |
3 | g.190388312G>A | CA355762502 | CLDN16 | c.-18G>A (n.-18G>A) c.193G>A (p.Asp65Asn) n.306+13709G>A | dbSNP |
3 | g.190388312G>C | CA355762501 | CLDN16 | c.-18G>C (n.-18G>C) c.193G>C (p.Asp65His) n.306+13709G>C | |
3 | g.190388312G= | CA1428775917 | CLDN16 | c.-18G= (n.-18G=) c.193G= (p.Asp65=) n.306+13709G= | |
3 | g.190388312G>T | CA355762500 | CLDN16 | c.-18G>T (n.-18G>T) c.193G>T (p.Asp65Tyr) n.306+13709G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190388313A= | CA1428775920 | CLDN16 | c.-17A= (n.-17A=) c.194A= (p.Asp65=) n.306+13710A= | |
3 | g.190388313A>C | CA355762504 | CLDN16 | c.-17A>C (n.-17A>C) c.194A>C (p.Asp65Ala) n.306+13710A>C | |
3 | g.190388313A>G | CA2753722 | CLDN16 | c.-17A>G (n.-17A>G) c.194A>G (p.Asp65Gly) n.306+13710A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.190388313A>T | CA355762503 | CLDN16 | c.-17A>T (n.-17A>T) c.194A>T (p.Asp65Val) n.306+13710A>T | |
3 | g.190388314T>A | CA355762505 | CLDN16 | c.-16T>A (n.-16T>A) c.195T>A (p.Asp65Glu) n.306+13711T>A | |
3 | g.190388314T>C | CA437637266 | CLDN16 | c.-16T>C (n.-16T>C) c.195T>C (p.Asp65=) n.306+13711T>C | dbSNP |
3 | g.190388314T>G | CA355762506 | CLDN16 | c.-16T>G (n.-16T>G) c.195T>G (p.Asp65Glu) n.306+13711T>G | |
3 | g.190388314T= | CA1428775924 | CLDN16 | c.-16T= (n.-16T=) c.195T= (p.Asp65=) n.306+13711T= | |
3 | g.190388315G>A | CA355762507 | CLDN16 | c.-15G>A (n.-15G>A) c.196G>A (p.Gly66Arg) n.306+13712G>A | gnomAD v4 |
3 | g.190388315G>C | CA355762508 | CLDN16 | c.-15G>C (n.-15G>C) c.196G>C (p.Gly66Arg) n.306+13712G>C | |
3 | g.190388315G>T | CA355762509 | CLDN16 | c.-15G>T (n.-15G>T) c.196G>T (p.Gly66Trp) n.306+13712G>T | |
3 | g.190388316G>A | CA355762510 | CLDN16 | c.-14G>A (n.-14G>A) c.197G>A (p.Gly66Glu) n.306+13713G>A | |
3 | g.190388316G>C | CA355762511 | CLDN16 | c.-14G>C (n.-14G>C) c.197G>C (p.Gly66Ala) n.306+13713G>C | |
3 | g.190388316G>T | CA355762512 | CLDN16 | c.-14G>T (n.-14G>T) c.197G>T (p.Gly66Val) n.306+13713G>T | |
3 | g.190388317G>A | CA437637268 | CLDN16 | c.-13G>A (n.-13G>A) c.198G>A (p.Gly66=) n.306+13714G>A | gnomAD v4 COSMIC |
3 | g.190388317G>C | CA437637269 | CLDN16 | c.-13G>C (n.-13G>C) c.198G>C (p.Gly66=) n.306+13714G>C | |
3 | g.190388317G>T | CA437637270 | CLDN16 | c.-13G>T (n.-13G>T) c.198G>T (p.Gly66=) n.306+13714G>T | gnomAD v4 |
3 | g.190388317_190388318del | CA2506908278 | CLDN16 | c.-13_-12del (n.-13_-12del) c.198_199del (p.Leu67AlafsTer?) n.306+13714_306+13715del | |
3 | g.190388318C>A | CA355762513 | CLDN16 | c.-12C>A (n.-12C>A) c.199C>A (p.Leu67Met) n.306+13715C>A | |
3 | g.190388318C= | CA1428775927 | CLDN16 | c.-12C= (n.-12C=) c.199C= (p.Leu67=) n.306+13715C= | |
3 | g.190388318C>G | CA355762514 | CLDN16 | c.-12C>G (n.-12C>G) c.199C>G (p.Leu67Val) n.306+13715C>G | |
3 | g.190388318C>T | CA2753723 | CLDN16 | c.-12C>T (n.-12C>T) c.199C>T (p.Leu67=) n.306+13715C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.190388319T>A | CA355762517 | CLDN16 | c.-11T>A (n.-11T>A) c.200T>A (p.Leu67Gln) n.306+13716T>A | |
3 | g.190388319T>C | CA355762515 | CLDN16 | c.-11T>C (n.-11T>C) c.200T>C (p.Leu67Pro) n.306+13716T>C | |
3 | g.190388319T>G | CA355762516 | CLDN16 | c.-11T>G (n.-11T>G) c.200T>G (p.Leu67Arg) n.306+13716T>G | |
3 | g.190388320G>A | CA437637271 | CLDN16 | c.-10G>A (n.-10G>A) c.201G>A (p.Leu67=) n.306+13717G>A | |
3 | g.190388320G>C | CA437637272 | CLDN16 | c.-10G>C (n.-10G>C) c.201G>C (p.Leu67=) n.306+13717G>C | |
3 | g.190388320G= | CA1428775932 | CLDN16 | c.-10G= (n.-10G=) c.201G= (p.Leu67=) n.306+13717G= | |
3 | g.190388320G>T | CA437637273 | CLDN16 | c.-10G>T (n.-10G>T) c.201G>T (p.Leu67=) n.306+13717G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190388321C>A | CA355762518 | CLDN16 | c.-9C>A (n.-9C>A) c.202C>A (p.Leu68Ile) n.306+13718C>A | gnomAD v4 |
3 | g.190388321C>G | CA355762519 | CLDN16 | c.-9C>G (n.-9C>G) c.202C>G (p.Leu68Val) n.306+13718C>G | |
3 | g.190388321C>T | CA355762520 | CLDN16 | c.-9C>T (n.-9C>T) c.202C>T (p.Leu68Phe) n.306+13718C>T | gnomAD v4 |
3 | g.190388322T>A | CA355762521 | CLDN16 | c.-8T>A (n.-8T>A) c.203T>A (p.Leu68His) n.306+13719T>A | |
3 | g.190388322T>C | CA355762522 | CLDN16 | c.-8T>C (n.-8T>C) c.203T>C (p.Leu68Pro) n.306+13719T>C | |
3 | g.190388322T>G | CA355762523 | CLDN16 | c.-8T>G (n.-8T>G) c.203T>G (p.Leu68Arg) n.306+13719T>G | |
3 | g.190388323T>A | CA437637277 | CLDN16 | c.-7T>A (n.-7T>A) c.204T>A (p.Leu68=) n.306+13720T>A | |
3 | g.190388323T>C | CA437637278 | CLDN16 | c.-7T>C (n.-7T>C) c.204T>C (p.Leu68=) n.306+13720T>C | |
3 | g.190388323T>G | CA437637280 | CLDN16 | c.-7T>G (n.-7T>G) c.204T>G (p.Leu68=) n.306+13720T>G | |
3 | g.190388324G>A | CA355762524 | CLDN16 | c.-6G>A (n.-6G>A) c.205G>A (p.Ala69Thr) n.306+13721G>A | |
3 | g.190388324G>C | CA355762525 | CLDN16 | c.-6G>C (n.-6G>C) c.205G>C (p.Ala69Pro) n.306+13721G>C | |
3 | g.190388324G>T | CA355762526 | CLDN16 | c.-6G>T (n.-6G>T) c.205G>T (p.Ala69Ser) n.306+13721G>T | |
3 | g.190388325C>A | CA355762527 | CLDN16 | c.-5C>A (n.-5C>A) c.206C>A (p.Ala69Asp) n.306+13722C>A | gnomAD v4 |
3 | g.190388325C>G | CA355762528 | CLDN16 | c.-5C>G (n.-5C>G) c.206C>G (p.Ala69Gly) n.306+13722C>G | |
3 | g.190388325C>T | CA355762529 | CLDN16 | c.-5C>T (n.-5C>T) c.206C>T (p.Ala69Val) n.306+13722C>T | |
3 | g.190388326C>A | CA437637282 | CLDN16 | c.-4C>A (n.-4C>A) c.207C>A (p.Ala69=) n.306+13723C>A | |
3 | g.190388326C>G | CA437637283 | CLDN16 | c.-4C>G (n.-4C>G) c.207C>G (p.Ala69=) n.306+13723C>G | |
3 | g.190388326C>T | CA437637284 | CLDN16 | c.-4C>T (n.-4C>T) c.207C>T (p.Ala69=) n.306+13723C>T | |
3 | g.190388327A= | CA1428775938 | CLDN16 | c.-3A= (n.-3A=) c.208A= (p.Thr70=) n.306+13724A= | |
3 | g.190388327A>C | CA355762531 | CLDN16 | c.-3A>C (n.-3A>C) c.208A>C (p.Thr70Pro) n.306+13724A>C | |
3 | g.190388327A>G | CA355762532 | CLDN16 | c.-3A>G (n.-3A>G) c.208A>G (p.Thr70Ala) n.306+13724A>G | dbSNP |
3 | g.190388327A>T | CA355762530 | CLDN16 | c.-3A>T (n.-3A>T) c.208A>T (p.Thr70Ser) n.306+13724A>T | |
3 | g.190388328C>A | CA355762533 | CLDN16 | c.-2C>A (n.-2C>A) c.209C>A (p.Thr70Lys) n.306+13725C>A | gnomAD v4 |
3 | g.190388328C>G | CA355762535 | CLDN16 | c.-2C>G (n.-2C>G) c.209C>G (p.Thr70Arg) n.306+13725C>G | |
3 | g.190388328C>T | CA355762534 | CLDN16 | c.-2C>T (n.-2C>T) c.209C>T (p.Thr70Ile) n.306+13725C>T | |
3 | g.190388329A>C | CA437637289 | CLDN16 | c.-1A>C (n.-1A>C) c.210A>C (p.Thr70=) n.306+13726A>C | |
3 | g.190388329A>G | CA437637290 | CLDN16 | c.-1A>G (n.-1A>G) c.210A>G (p.Thr70=) n.306+13726A>G | |
3 | g.190388329A>T | CA437637288 | CLDN16 | c.-1A>T (n.-1A>T) c.210A>T (p.Thr70=) n.306+13726A>T | gnomAD v4 |
3 | g.190388330A= | CA1428775941 | CLDN16 | c.1A= (p.Met1=) c.211A= (p.Met71=) n.306+13727A= | |
3 | g.190388330A>C | CA355762536 | CLDN16 | c.1A>C (p.Met1Leu) c.211A>C (p.Met71Leu) n.306+13727A>C | COSMIC |
3 | g.190388330A>G | CA355762537 | CLDN16 | c.1A>G (p.Met1Val) c.211A>G (p.Met71Val) n.306+13727A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.190388330A>T | CA355762538 | CLDN16 | c.1A>T (p.Met1Leu) c.211A>T (p.Met71Leu) n.306+13727A>T | |
3 | g.190388331T>A | CA355762539 | CLDN16 | c.2T>A (p.Met1Lys) c.212T>A (p.Met71Lys) n.306+13728T>A | |
3 | g.190388331T>C | CA355762540 | CLDN16 | c.2T>C (p.Met1Thr) c.212T>C (p.Met71Thr) n.306+13728T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.190388331T>G | CA117862 | CLDN16 | c.2T>G (p.Met1Arg) c.212T>G (p.Met71Arg) n.306+13728T>G | ClinVar dbSNP |
3 | g.190388331T= | CA1428775947 | CLDN16 | c.2T= (p.Met1=) c.212T= (p.Met71=) n.306+13728T= | |
3 | g.190388332G>A | CA355762541 | CLDN16 | c.3G>A (p.Met1Ile) c.213G>A (p.Met71Ile) n.306+13729G>A | |
3 | g.190388332G>C | CA355762542 | CLDN16 | c.3G>C (p.Met1Ile) c.213G>C (p.Met71Ile) n.306+13729G>C | |
3 | g.190388332G>T | CA355762543 | CLDN16 | c.3G>T (p.Met1Ile) c.213G>T (p.Met71Ile) n.306+13729G>T | |
3 | g.190388332dup | CA1428775951 | CLDN16 | c.3dup (p.Arg2GlufsTer26) c.213dup (p.Arg72GlufsTer26) n.306+13729dup | dbSNP |
3 | g.190388333A= | CA1428775953 | CLDN16 | c.4A= (p.Arg2=) c.214A= (p.Arg72=) n.306+13730A= | |
3 | g.190388333A>C | CA437637292 | CLDN16 | c.4A>C (p.Arg2=) c.214A>C (p.Arg72=) n.306+13730A>C | |
3 | g.190388333A>G | CA355762544 | CLDN16 | c.4A>G (p.Arg2Gly) c.214A>G (p.Arg72Gly) n.306+13730A>G | |
3 | g.190388333A>T | CA2753724 | CLDN16 | c.4A>T (p.Arg2Trp) c.214A>T (p.Arg72Trp) n.306+13730A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190388334G>A | CA355762547 | CLDN16 | c.5G>A (p.Arg2Lys) c.215G>A (p.Arg72Lys) n.306+13731G>A | |
3 | g.190388334G>C | CA355762545 | CLDN16 | c.5G>C (p.Arg2Thr) c.215G>C (p.Arg72Thr) n.306+13731G>C | |
3 | g.190388334G>T | CA355762546 | CLDN16 | c.5G>T (p.Arg2Met) c.215G>T (p.Arg72Met) n.306+13731G>T | |
3 | g.190388335G>A | CA437637296 | CLDN16 | c.6G>A (p.Arg2=) c.216G>A (p.Arg72=) n.306+13732G>A | |
3 | g.190388335G>C | CA355762548 | CLDN16 | c.6G>C (p.Arg2Ser) c.216G>C (p.Arg72Ser) n.306+13732G>C | |
3 | g.190388335G>T | CA355762549 | CLDN16 | c.6G>T (p.Arg2Ser) c.216G>T (p.Arg72Ser) n.306+13732G>T | gnomAD v4 |
3 | g.190388336G>A | CA355762550 | CLDN16 | c.7G>A (p.Asp3Asn) c.217G>A (p.Asp73Asn) n.306+13733G>A | COSMIC |
3 | g.190388336G>C | CA355762551 | CLDN16 | c.7G>C (p.Asp3His) c.217G>C (p.Asp73His) n.306+13733G>C | |
3 | g.190388336G>T | CA355762552 | CLDN16 | c.7G>T (p.Asp3Tyr) c.217G>T (p.Asp73Tyr) n.306+13733G>T | gnomAD v4 |
3 | g.190388337A>C | CA355762553 | CLDN16 | c.8A>C (p.Asp3Ala) c.218A>C (p.Asp73Ala) n.306+13734A>C | |
3 | g.190388337A>G | CA355762554 | CLDN16 | c.8A>G (p.Asp3Gly) c.218A>G (p.Asp73Gly) n.306+13734A>G | |
3 | g.190388337A>T | CA355762555 | CLDN16 | c.8A>T (p.Asp3Val) c.218A>T (p.Asp73Val) n.306+13734A>T | |
3 | g.190388338T>A | CA355762556 | CLDN16 | c.9T>A (p.Asp3Glu) c.219T>A (p.Asp73Glu) n.306+13735T>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.190388338T>C | CA437637298 | CLDN16 | c.9T>C (p.Asp3=) c.219T>C (p.Asp73=) n.306+13735T>C | dbSNP gnomAD v4 |
3 | g.190388338T>G | CA355762557 | CLDN16 | c.9T>G (p.Asp3Glu) c.219T>G (p.Asp73Glu) n.306+13735T>G | |
3 | g.190388338T= | CA1428775957 | CLDN16 | c.9T= (p.Asp3=) c.219T= (p.Asp73=) n.306+13735T= | |
3 | g.190388343_190388345del | CA2669054144 | CLDN16 | c.14_16del (p.Leu5del) c.224_226del (p.Leu75del) n.306+13740_306+13742del | gnomAD v4 |
3 | g.190388339C>A | CA355762559 | CLDN16 | c.10C>A (p.Leu4Ile) c.220C>A (p.Leu74Ile) n.306+13736C>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.190388339C= | CA1428775961 | CLDN16 | c.10C= (p.Leu4=) c.220C= (p.Leu74=) n.306+13736C= | |
3 | g.190388339C>G | CA355762560 | CLDN16 | c.10C>G (p.Leu4Val) c.220C>G (p.Leu74Val) n.306+13736C>G | |
3 | g.190388339C>T | CA355762558 | CLDN16 | c.10C>T (p.Leu4Phe) c.220C>T (p.Leu74Phe) n.306+13736C>T | |
3 | g.190388340T>A | CA355762561 | CLDN16 | c.11T>A (p.Leu4His) c.221T>A (p.Leu74His) n.306+13737T>A | |
3 | g.190388340T>C | CA355762562 | CLDN16 | c.11T>C (p.Leu4Pro) c.221T>C (p.Leu74Pro) n.306+13737T>C | |
3 | g.190388340T>G | CA355762563 | CLDN16 | c.11T>G (p.Leu4Arg) c.221T>G (p.Leu74Arg) n.306+13737T>G | |
3 | g.190388341T>A | CA437637300 | CLDN16 | c.12T>A (p.Leu4=) c.222T>A (p.Leu74=) n.306+13738T>A | |
3 | g.190388341T>C | CA437637301 | CLDN16 | c.12T>C (p.Leu4=) c.222T>C (p.Leu74=) n.306+13738T>C | |
3 | g.190388341T>G | CA437637302 | CLDN16 | c.12T>G (p.Leu4=) c.222T>G (p.Leu74=) n.306+13738T>G | |
3 | g.190388342C>A | CA2753725 | CLDN16 | c.13C>A (p.Leu5Ile) c.223C>A (p.Leu75Ile) n.306+13739C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190388342C= | CA1428775964 | CLDN16 | c.13C= (p.Leu5=) c.223C= (p.Leu75=) n.306+13739C= | |
3 | g.190388342C>G | CA355762564 | CLDN16 | c.13C>G (p.Leu5Val) c.223C>G (p.Leu75Val) n.306+13739C>G | |
3 | g.190388342C>T | CA355762565 | CLDN16 | c.13C>T (p.Leu5Phe) c.223C>T (p.Leu75Phe) n.306+13739C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190388343T>A | CA355762566 | CLDN16 | c.14T>A (p.Leu5His) c.224T>A (p.Leu75His) n.306+13740T>A | |
3 | g.190388343T>C | CA355762567 | CLDN16 | c.14T>C (p.Leu5Pro) c.224T>C (p.Leu75Pro) n.306+13740T>C | |
3 | g.190388343T>G | CA355762568 | CLDN16 | c.14T>G (p.Leu5Arg) c.224T>G (p.Leu75Arg) n.306+13740T>G | |
3 | g.190388344T>A | CA437637308 | CLDN16 | c.15T>A (p.Leu5=) c.225T>A (p.Leu75=) n.306+13741T>A | |
3 | g.190388344T>C | CA437637310 | CLDN16 | c.15T>C (p.Leu5=) c.225T>C (p.Leu75=) n.306+13741T>C | ClinVar dbSNP gnomAD v4 |
3 | g.190388344T>G | CA437637307 | CLDN16 | c.15T>G (p.Leu5=) c.225T>G (p.Leu75=) n.306+13741T>G | |
3 | g.190388344T= | CA1428775966 | CLDN16 | c.15T= (p.Leu5=) c.225T= (p.Leu75=) n.306+13741T= | |
3 | g.190388345C>A | CA355762569 | CLDN16 | c.16C>A (p.Gln6Lys) c.226C>A (p.Gln76Lys) n.306+13742C>A | COSMIC |
3 | g.190388345C>G | CA355762570 | CLDN16 | c.16C>G (p.Gln6Glu) c.226C>G (p.Gln76Glu) n.306+13742C>G | |
3 | g.190388345C>T | CA355762571 | CLDN16 | c.16C>T (p.Gln6Ter) c.226C>T (p.Gln76Ter) n.306+13742C>T | |
3 | g.190388346A= | CA1428775971 | CLDN16 | c.17A= (p.Gln6=) c.227A= (p.Gln76=) n.306+13743A= | |
3 | g.190388346A>C | CA10618255 | CLDN16 | c.17A>C (p.Gln6Pro) c.227A>C (p.Gln76Pro) n.306+13743A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190388346A>G | CA355762572 | CLDN16 | c.17A>G (p.Gln6Arg) c.227A>G (p.Gln76Arg) n.306+13743A>G | |
3 | g.190388346A>T | CA355762573 | CLDN16 | c.17A>T (p.Gln6Leu) c.227A>T (p.Gln76Leu) n.306+13743A>T | |
3 | g.190388347A>C | CA355762574 | CLDN16 | c.18A>C (p.Gln6His) c.228A>C (p.Gln76His) n.306+13744A>C | |
3 | g.190388347A>G | CA437637313 | CLDN16 | c.18A>G (p.Gln6=) c.228A>G (p.Gln76=) n.306+13744A>G | |
3 | g.190388347A>T | CA355762575 | CLDN16 | c.18A>T (p.Gln6His) c.228A>T (p.Gln76His) n.306+13744A>T | |
3 | g.190388348T>A | CA355762576 | CLDN16 | c.19T>A (p.Tyr7Asn) c.229T>A (p.Tyr77Asn) n.306+13745T>A | |
3 | g.190388348T>C | CA2753726 | CLDN16 | c.19T>C (p.Tyr7His) c.229T>C (p.Tyr77His) n.306+13745T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190388348T>G | CA355762577 | CLDN16 | c.19T>G (p.Tyr7Asp) c.229T>G (p.Tyr77Asp) n.306+13745T>G | |
3 | g.190388348T= | CA1428775979 | CLDN16 | c.19T= (p.Tyr7=) c.229T= (p.Tyr77=) n.306+13745T= | |
3 | g.190388349A= | CA1428775982 | CLDN16 | c.20A= (p.Tyr7=) c.230A= (p.Tyr77=) n.306+13746A= | |
3 | g.190388349A>C | CA355762578 | CLDN16 | c.20A>C (p.Tyr7Ser) c.230A>C (p.Tyr77Ser) n.306+13746A>C | |
3 | g.190388349A>G | CA2753727 | CLDN16 | c.20A>G (p.Tyr7Cys) c.230A>G (p.Tyr77Cys) n.306+13746A>G | dbSNP ExAC gnomAD v2 |
3 | g.190388349A>T | CA355762579 | CLDN16 | c.20A>T (p.Tyr7Phe) c.230A>T (p.Tyr77Phe) n.306+13746A>T | |
3 | g.190388350C>A | CA355762580 | CLDN16 | c.21C>A (p.Tyr7Ter) c.231C>A (p.Tyr77Ter) n.306+13747C>A | |
3 | g.190388350C= | CA1428775985 | CLDN16 | c.21C= (p.Tyr7=) c.231C= (p.Tyr77=) n.306+13747C= | |
3 | g.190388350C>G | CA355762581 | CLDN16 | c.21C>G (p.Tyr7Ter) c.231C>G (p.Tyr77Ter) n.306+13747C>G | |
3 | g.190388350C>T | CA437637316 | CLDN16 | c.21C>T (p.Tyr7=) c.231C>T (p.Tyr77=) n.306+13747C>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.190388351A= | CA1428775990 | CLDN16 | c.22A= (p.Ile8=) c.232A= (p.Ile78=) n.306+13748A= | |
3 | g.190388351A>C | CA355762582 | CLDN16 | c.22A>C (p.Ile8Leu) c.232A>C (p.Ile78Leu) n.306+13748A>C | |
3 | g.190388351A>G | CA2753728 | CLDN16 | c.22A>G (p.Ile8Val) c.232A>G (p.Ile78Val) n.306+13748A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190388351A>T | CA355762583 | CLDN16 | c.22A>T (p.Ile8Phe) c.232A>T (p.Ile78Phe) n.306+13748A>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.190388352T>A | CA355762585 | CLDN16 | c.23T>A (p.Ile8Asn) c.233T>A (p.Ile78Asn) n.306+13749T>A | |
3 | g.190388352T>C | CA355762586 | CLDN16 | c.23T>C (p.Ile8Thr) c.233T>C (p.Ile78Thr) n.306+13749T>C | |
3 | g.190388352T>G | CA355762584 | CLDN16 | c.23T>G (p.Ile8Ser) c.233T>G (p.Ile78Ser) n.306+13749T>G | |
3 | g.190388353C>A | CA437637320 | CLDN16 | c.24C>A (p.Ile8=) c.234C>A (p.Ile78=) n.306+13750C>A | |
3 | g.190388353C= | CA1428775993 | CLDN16 | c.24C= (p.Ile8=) c.234C= (p.Ile78=) n.306+13750C= | |
3 | g.190388353C>G | CA355762587 | CLDN16 | c.24C>G (p.Ile8Met) c.234C>G (p.Ile78Met) n.306+13750C>G | gnomAD v4 |
3 | g.190388353C>T | CA2753729 | CLDN16 | c.24C>T (p.Ile8=) c.234C>T (p.Ile78=) n.306+13750C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190388354G>A | CA89750156 | CLDN16 | c.25G>A (p.Ala9Thr) c.235G>A (p.Ala79Thr) n.306+13751G>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.190388354G>C | CA355762588 | CLDN16 | c.25G>C (p.Ala9Pro) c.235G>C (p.Ala79Pro) n.306+13751G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.190388354G= | CA1428775995 | CLDN16 | c.25G= (p.Ala9=) c.235G= (p.Ala79=) n.306+13751G= | |
3 | g.190388354G>T | CA355762589 | CLDN16 | c.25G>T (p.Ala9Ser) c.235G>T (p.Ala79Ser) n.306+13751G>T | COSMIC |
3 | g.190388355C>A | CA355762590 | CLDN16 | c.26C>A (p.Ala9Asp) c.236C>A (p.Ala79Asp) n.306+13752C>A | |
3 | g.190388355C>G | CA355762591 | CLDN16 | c.26C>G (p.Ala9Gly) c.236C>G (p.Ala79Gly) n.306+13752C>G | |
3 | g.190388355C>T | CA355762592 | CLDN16 | c.26C>T (p.Ala9Val) c.236C>T (p.Ala79Val) n.306+13752C>T | |
3 | g.190388356T>A | CA437637276 | CLDN16 | c.27T>A (p.Ala9=) c.237T>A (p.Ala79=) n.306+13753T>A | dbSNP |
3 | g.190388356T>C | CA437637274 | CLDN16 | c.27T>C (p.Ala9=) c.237T>C (p.Ala79=) n.306+13753T>C | |
3 | g.190388356T>G | CA437637275 | CLDN16 | c.27T>G (p.Ala9=) c.237T>G (p.Ala79=) n.306+13753T>G | |
3 | g.190388356T= | CA1428775997 | CLDN16 | c.27T= (p.Ala9=) c.237T= (p.Ala79=) n.306+13753T= | |
3 | g.190388357T>A | CA355762594 | CLDN16 | c.28T>A (p.Cys10Ser) c.238T>A (p.Cys80Ser) n.306+13754T>A | |
3 | g.190388357T>C | CA355762593 | CLDN16 | c.28T>C (p.Cys10Arg) c.238T>C (p.Cys80Arg) n.306+13754T>C | dbSNP |
3 | g.190388357T>G | CA2753730 | CLDN16 | c.28T>G (p.Cys10Gly) c.238T>G (p.Cys80Gly) n.306+13754T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.190388357T= | CA1428776001 | CLDN16 | c.28T= (p.Cys10=) c.238T= (p.Cys80=) n.306+13754T= | |
3 | g.190388358G>A | CA355762595 | CLDN16 | c.29G>A (p.Cys10Tyr) c.239G>A (p.Cys80Tyr) n.306+13755G>A | |
3 | g.190388358G>C | CA355762596 | CLDN16 | c.29G>C (p.Cys10Ser) c.239G>C (p.Cys80Ser) n.306+13755G>C | |
3 | g.190388358G= | CA1428776005 | CLDN16 | c.29G= (p.Cys10=) c.239G= (p.Cys80=) n.306+13755G= | |
3 | g.190388358G>T | CA2753731 | CLDN16 | c.29G>T (p.Cys10Phe) c.239G>T (p.Cys80Phe) n.306+13755G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.190388358_190388361delinsGCTT | CA1428776006 | CLDN16 | c.29_32delinsGCTT (p.Cys10=) c.239_242delinsGCTT (p.Cys80=) n.306+13755_306+13758delinsGCTT | |
3 | g.190388359C>A | CA355762597 | CLDN16 | c.30C>A (p.Cys10Ter) c.240C>A (p.Cys80Ter) n.306+13756C>A | |
3 | g.190388359C>G | CA355762598 | CLDN16 | c.30C>G (p.Cys10Trp) c.240C>G (p.Cys80Trp) n.306+13756C>G | |
3 | g.190388359C>T | CA437637281 | CLDN16 | c.30C>T (p.Cys10=) c.240C>T (p.Cys80=) n.306+13756C>T | gnomAD v4 |
3 | g.190388362_190388364del | CA89750158 | CLDN16 | c.33_35del (p.Phe12del) c.243_245del (p.Phe82del) n.306+13759_306+13761del | dbSNP |
3 | g.190388360T>A | CA355762599 | CLDN16 | c.31T>A (p.Phe11Ile) c.241T>A (p.Phe81Ile) n.306+13757T>A | |
3 | g.190388360T>C | CA355762600 | CLDN16 | c.31T>C (p.Phe11Leu) c.241T>C (p.Phe81Leu) n.306+13757T>C | |
3 | g.190388360T>G | CA2753732 | CLDN16 | c.31T>G (p.Phe11Val) c.241T>G (p.Phe81Val) n.306+13757T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190388360T= | CA1428776012 | CLDN16 | c.31T= (p.Phe11=) c.241T= (p.Phe81=) n.306+13757T= | |
3 | g.190388361T>A | CA355762601 | CLDN16 | c.32T>A (p.Phe11Tyr) c.242T>A (p.Phe81Tyr) n.306+13758T>A | |
3 | g.190388361T>C | CA355762602 | CLDN16 | c.32T>C (p.Phe11Ser) c.242T>C (p.Phe81Ser) n.306+13758T>C | |
3 | g.190388361T>G | CA355762603 | CLDN16 | c.32T>G (p.Phe11Cys) c.242T>G (p.Phe81Cys) n.306+13758T>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.190388361T= | CA1428776018 | CLDN16 | c.32T= (p.Phe11=) c.242T= (p.Phe81=) n.306+13758T= | |
3 | g.190388362C>A | CA355762604 | CLDN16 | c.33C>A (p.Phe11Leu) c.243C>A (p.Phe81Leu) n.306+13759C>A | |
3 | g.190388362C= | CA1428776019 | CLDN16 | c.33C= (p.Phe11=) c.243C= (p.Phe81=) n.306+13759C= | |
3 | g.190388362C>G | CA355762605 | CLDN16 | c.33C>G (p.Phe11Leu) c.243C>G (p.Phe81Leu) n.306+13759C>G | |
3 | g.190388362C>T | CA437637286 | CLDN16 | c.33C>T (p.Phe11=) c.243C>T (p.Phe81=) n.306+13759C>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.190388363T>A | CA355762606 | CLDN16 | c.34T>A (p.Phe12Ile) c.244T>A (p.Phe82Ile) n.306+13760T>A | |
3 | g.190388363T>C | CA355762607 | CLDN16 | c.34T>C (p.Phe12Leu) c.244T>C (p.Phe82Leu) n.306+13760T>C | |
3 | g.190388363T>G | CA355762608 | CLDN16 | c.34T>G (p.Phe12Val) c.244T>G (p.Phe82Val) n.306+13760T>G | gnomAD v4 |
3 | g.190388364T>A | CA355762609 | CLDN16 | c.35T>A (p.Phe12Tyr) c.245T>A (p.Phe82Tyr) n.306+13761T>A | |
3 | g.190388364T>C | CA355762610 | CLDN16 | c.35T>C (p.Phe12Ser) c.245T>C (p.Phe82Ser) n.306+13761T>C | |
3 | g.190388364T>G | CA355762611 | CLDN16 | c.35T>G (p.Phe12Cys) c.245T>G (p.Phe82Cys) n.306+13761T>G | |
3 | g.190388364_190388376delinsTTGCCTTTTTCTC | CA1428776022 | CLDN16 | c.35_47delinsTTGCCTTTTTCTC (p.Phe12=) c.245_257delinsTTGCCTTTTTCTC (p.Phe82=) n.306+13761_306+13773delinsTTGCCTTTTTCTC | |
3 | g.190388365T>A | CA355762612 | CLDN16 | c.36T>A (p.Phe12Leu) c.246T>A (p.Phe82Leu) n.306+13762T>A | |
3 | g.190388365T>C | CA437637287 | CLDN16 | c.36T>C (p.Phe12=) c.246T>C (p.Phe82=) n.306+13762T>C | |
3 | g.190388365T>G | CA355762613 | CLDN16 | c.36T>G (p.Phe12Leu) c.246T>G (p.Phe82Leu) n.306+13762T>G | |
3 | g.190388368_190388379del | CA917094514 | CLDN16 | c.39_50del (p.Phe14_Ala17del) c.249_260del (p.Phe84_Ala87del) n.306+13765_306+13776del | ClinVar dbSNP gnomAD v4 |
3 | g.190388366G>A | CA89750160 | CLDN16 | c.37G>A (p.Ala13Thr) c.247G>A (p.Ala83Thr) n.306+13763G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190388366G>C | CA355762614 | CLDN16 | c.37G>C (p.Ala13Pro) c.247G>C (p.Ala83Pro) n.306+13763G>C | |
3 | g.190388366G= | CA1428776030 | CLDN16 | c.37G= (p.Ala13=) c.247G= (p.Ala83=) n.306+13763G= | |
3 | g.190388366G>T | CA355762615 | CLDN16 | c.37G>T (p.Ala13Ser) c.247G>T (p.Ala83Ser) n.306+13763G>T | dbSNP gnomAD v4 |
3 | g.190388367C>A | CA89750168 | CLDN16 | c.38C>A (p.Ala13Asp) c.248C>A (p.Ala83Asp) n.306+13764C>A | dbSNP |
3 | g.190388367C= | CA1428776032 | CLDN16 | c.38C= (p.Ala13=) c.248C= (p.Ala83=) n.306+13764C= | |
3 | g.190388367C>G | CA355762616 | CLDN16 | c.38C>G (p.Ala13Gly) c.248C>G (p.Ala83Gly) n.306+13764C>G | |
3 | g.190388367C>T | CA355762617 | CLDN16 | c.38C>T (p.Ala13Val) c.248C>T (p.Ala83Val) n.306+13764C>T | |
3 | g.190388368C>A | CA437637293 | CLDN16 | c.39C>A (p.Ala13=) c.249C>A (p.Ala83=) n.306+13765C>A | |
3 | g.190388368C>G | CA437637294 | CLDN16 | c.39C>G (p.Ala13=) c.249C>G (p.Ala83=) n.306+13765C>G | |
3 | g.190388368C>T | CA437637295 | CLDN16 | c.39C>T (p.Ala13=) c.249C>T (p.Ala83=) n.306+13765C>T | |
3 | g.190388369T>A | CA355762620 | CLDN16 | c.40T>A (p.Phe14Ile) c.250T>A (p.Phe84Ile) n.306+13766T>A | |
3 | g.190388369T>C | CA355762618 | CLDN16 | c.40T>C (p.Phe14Leu) c.250T>C (p.Phe84Leu) n.306+13766T>C | |
3 | g.190388369T>G | CA355762619 | CLDN16 | c.40T>G (p.Phe14Val) c.250T>G (p.Phe84Val) n.306+13766T>G | |
3 | g.190388370T>A | CA355762621 | CLDN16 | c.41T>A (p.Phe14Tyr) c.251T>A (p.Phe84Tyr) n.306+13767T>A | |
3 | g.190388370T>C | CA355762622 | CLDN16 | c.41T>C (p.Phe14Ser) c.251T>C (p.Phe84Ser) n.306+13767T>C | |
3 | g.190388370T>G | CA355762623 | CLDN16 | c.41T>G (p.Phe14Cys) c.251T>G (p.Phe84Cys) n.306+13767T>G | |
3 | g.190388371T>A | CA355762624 | CLDN16 | c.42T>A (p.Phe14Leu) c.252T>A (p.Phe84Leu) n.306+13768T>A | |
3 | g.190388371T>C | CA437637297 | CLDN16 | c.42T>C (p.Phe14=) c.252T>C (p.Phe84=) n.306+13768T>C | gnomAD v4 |
3 | g.190388371T>G | CA355762625 | CLDN16 | c.42T>G (p.Phe14Leu) c.252T>G (p.Phe84Leu) n.306+13768T>G | |
3 | g.190388372T>A | CA355762626 | CLDN16 | c.43T>A (p.Phe15Ile) c.253T>A (p.Phe85Ile) n.306+13769T>A | |
3 | g.190388372T>C | CA355762628 | CLDN16 | c.43T>C (p.Phe15Leu) c.253T>C (p.Phe85Leu) n.306+13769T>C | gnomAD v4 |
3 | g.190388372T>G | CA355762627 | CLDN16 | c.43T>G (p.Phe15Val) c.253T>G (p.Phe85Val) n.306+13769T>G | |
3 | g.190388373T>A | CA355762629 | CLDN16 | c.44T>A (p.Phe15Tyr) c.254T>A (p.Phe85Tyr) n.306+13770T>A | |
3 | g.190388373T>C | CA355762630 | CLDN16 | c.44T>C (p.Phe15Ser) c.254T>C (p.Phe85Ser) n.306+13770T>C | |
3 | g.190388373T>G | CA355762631 | CLDN16 | c.44T>G (p.Phe15Cys) c.254T>G (p.Phe85Cys) n.306+13770T>G | |
3 | g.190388374C>A | CA355762632 | CLDN16 | c.45C>A (p.Phe15Leu) c.255C>A (p.Phe85Leu) n.306+13771C>A | |
3 | g.190388374C= | CA1428776040 | CLDN16 | c.45C= (p.Phe15=) c.255C= (p.Phe85=) n.306+13771C= | |
3 | g.190388374C>G | CA2753733 | CLDN16 | c.45C>G (p.Phe15Leu) c.255C>G (p.Phe85Leu) n.306+13771C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190388374C>T | CA437637299 | CLDN16 | c.45C>T (p.Phe15=) c.255C>T (p.Phe85=) n.306+13771C>T | |
3 | g.190388375T>A | CA355762633 | CLDN16 | c.46T>A (p.Ser16Thr) c.256T>A (p.Ser86Thr) n.306+13772T>A | |
3 | g.190388375T>C | CA355762634 | CLDN16 | c.46T>C (p.Ser16Pro) c.256T>C (p.Ser86Pro) n.306+13772T>C | |
3 | g.190388375T>G | CA355762635 | CLDN16 | c.46T>G (p.Ser16Ala) c.256T>G (p.Ser86Ala) n.306+13772T>G | |
3 | g.190388376C>A | CA355762636 | CLDN16 | c.47C>A (p.Ser16Tyr) c.257C>A (p.Ser86Tyr) n.306+13773C>A | |
3 | g.190388376C= | CA1428776046 | CLDN16 | c.47C= (p.Ser16=) c.257C= (p.Ser86=) n.306+13773C= | |
3 | g.190388376C>G | CA355762637 | CLDN16 | c.47C>G (p.Ser16Cys) c.257C>G (p.Ser86Cys) n.306+13773C>G | gnomAD v4 |
3 | g.190388376C>T | CA355762638 | CLDN16 | c.47C>T (p.Ser16Phe) c.257C>T (p.Ser86Phe) n.306+13773C>T | ClinVar dbSNP |
3 | g.190388377T>A | CA437637303 | CLDN16 | c.48T>A (p.Ser16=) c.258T>A (p.Ser86=) n.306+13774T>A | |
3 | g.190388377T>C | CA437637305 | CLDN16 | c.48T>C (p.Ser16=) c.258T>C (p.Ser86=) n.306+13774T>C | gnomAD v4 |
3 | g.190388377T>G | CA437637304 | CLDN16 | c.48T>G (p.Ser16=) c.258T>G (p.Ser86=) n.306+13774T>G | |
3 | g.190388378G>A | CA355762639 | CLDN16 | c.49G>A (p.Ala17Thr) c.259G>A (p.Ala87Thr) n.306+13775G>A | |
3 | g.190388378G>C | CA355762641 | CLDN16 | c.49G>C (p.Ala17Pro) c.259G>C (p.Ala87Pro) n.306+13775G>C | |
3 | g.190388378G>T | CA355762640 | CLDN16 | c.49G>T (p.Ala17Ser) c.259G>T (p.Ala87Ser) n.306+13775G>T | |
3 | g.190388379C>A | CA355762642 | CLDN16 | c.50C>A (p.Ala17Asp) c.260C>A (p.Ala87Asp) n.306+13776C>A | |
3 | g.190388379C>G | CA355762644 | CLDN16 | c.50C>G (p.Ala17Gly) c.260C>G (p.Ala87Gly) n.306+13776C>G | |
3 | g.190388379C>T | CA355762643 | CLDN16 | c.50C>T (p.Ala17Val) c.260C>T (p.Ala87Val) n.306+13776C>T | |
3 | g.190388380T>A | CA437637306 | CLDN16 | c.51T>A (p.Ala17=) c.261T>A (p.Ala87=) n.306+13777T>A | |
3 | g.190388380T>C | CA89750186 | CLDN16 | c.51T>C (p.Ala17=) c.261T>C (p.Ala87=) n.306+13777T>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.190388380T>G | CA437637309 | CLDN16 | c.51T>G (p.Ala17=) c.261T>G (p.Ala87=) n.306+13777T>G | |
3 | g.190388380T= | CA1428776050 | CLDN16 | c.51T= (p.Ala17=) c.261T= (p.Ala87=) n.306+13777T= | |
3 | g.190388381G>A | CA355762645 | CLDN16 | c.52G>A (p.Gly18Arg) c.262G>A (p.Gly88Arg) n.306+13778G>A | |
3 | g.190388381G>C | CA355762646 | CLDN16 | c.52G>C (p.Gly18Arg) c.262G>C (p.Gly88Arg) n.306+13778G>C | |
3 | g.190388381G>T | CA355762647 | CLDN16 | c.52G>T (p.Gly18Trp) c.262G>T (p.Gly88Trp) n.306+13778G>T | |
3 | g.190388382G>A | CA355762648 | CLDN16 | c.53G>A (p.Gly18Glu) c.263G>A (p.Gly88Glu) n.306+13779G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.190388382G>C | CA355762649 | CLDN16 | c.53G>C (p.Gly18Ala) c.263G>C (p.Gly88Ala) n.306+13779G>C | |
3 | g.190388382G= | CA1428776055 | CLDN16 | c.53G= (p.Gly18=) c.263G= (p.Gly88=) n.306+13779G= | |
3 | g.190388382G>T | CA355762650 | CLDN16 | c.53G>T (p.Gly18Val) c.263G>T (p.Gly88Val) n.306+13779G>T | |
3 | g.190388383G>A | CA2753734 | CLDN16 | c.54G>A (p.Gly18=) c.264G>A (p.Gly88=) n.306+13780G>A | dbSNP ExAC gnomAD v4 |
3 | g.190388383G>C | CA437637311 | CLDN16 | c.54G>C (p.Gly18=) c.264G>C (p.Gly88=) n.306+13780G>C | gnomAD v4 |
3 | g.190388383G= | CA1428776059 | CLDN16 | c.54G= (p.Gly18=) c.264G= (p.Gly88=) n.306+13780G= | |
3 | g.190388383G>T | CA437637312 | CLDN16 | c.54G>T (p.Gly18=) c.264G>T (p.Gly88=) n.306+13780G>T | |
3 | g.190388384T>A | CA355762651 | CLDN16 | c.55T>A (p.Phe19Ile) c.265T>A (p.Phe89Ile) n.306+13781T>A | |
3 | g.190388384T>C | CA355762652 | CLDN16 | c.55T>C (p.Phe19Leu) c.265T>C (p.Phe89Leu) n.306+13781T>C | |
3 | g.190388384T>G | CA355762653 | CLDN16 | c.55T>G (p.Phe19Val) c.265T>G (p.Phe89Val) n.306+13781T>G | |
3 | g.190388388del | CA2669054145 | CLDN16 | c.59del (p.Leu20Ter) c.269del (p.Leu90Ter) n.306+13785del | gnomAD v4 |
3 | g.190388385T>A | CA355762654 | CLDN16 | c.56T>A (p.Phe19Tyr) c.266T>A (p.Phe89Tyr) n.306+13782T>A | |
3 | g.190388385T>C | CA355762655 | CLDN16 | c.56T>C (p.Phe19Ser) c.266T>C (p.Phe89Ser) n.306+13782T>C | |
3 | g.190388385T>G | CA355762656 | CLDN16 | c.56T>G (p.Phe19Cys) c.266T>G (p.Phe89Cys) n.306+13782T>G | gnomAD v4 |