UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.190388252A>C | CA355762381 | CLDN16 | c.-78A>C (n.-78A>C) c.133A>C (p.Lys45Gln) n.306+13649A>C | |
| 3 | g.190388252A>G | CA355762382 | CLDN16 | c.-78A>G (n.-78A>G) c.133A>G (p.Lys45Glu) n.306+13649A>G | |
| 3 | g.190388252A>T | CA355762383 | CLDN16 | c.-78A>T (n.-78A>T) c.133A>T (p.Lys45Ter) n.306+13649A>T | |
| 3 | g.190388253A>C | CA355762384 | CLDN16 | c.-77A>C (n.-77A>C) c.134A>C (p.Lys45Thr) n.306+13650A>C | |
| 3 | g.190388253A>G | CA355762385 | CLDN16 | c.-77A>G (n.-77A>G) c.134A>G (p.Lys45Arg) n.306+13650A>G | |
| 3 | g.190388253A>T | CA355762386 | CLDN16 | c.-77A>T (n.-77A>T) c.134A>T (p.Lys45Met) n.306+13650A>T | |
| 3 | g.190388254G>A | CA437637191 | CLDN16 | c.-76G>A (n.-76G>A) c.135G>A (p.Lys45=) n.306+13651G>A | |
| 3 | g.190388254G>C | CA355762388 | CLDN16 | c.-76G>C (n.-76G>C) c.135G>C (p.Lys45Asn) n.306+13651G>C | |
| 3 | g.190388254G>T | CA355762387 | CLDN16 | c.-76G>T (n.-76G>T) c.135G>T (p.Lys45Asn) n.306+13651G>T | |
| 3 | g.190388255A>C | CA355762389 | CLDN16 | c.-75A>C (n.-75A>C) c.136A>C (p.Thr46Pro) n.306+13652A>C | gnomAD v4 |
| 3 | g.190388255A>G | CA355762390 | CLDN16 | c.-75A>G (n.-75A>G) c.136A>G (p.Thr46Ala) n.306+13652A>G | gnomAD v4 |
| 3 | g.190388255A>T | CA355762391 | CLDN16 | c.-75A>T (n.-75A>T) c.136A>T (p.Thr46Ser) n.306+13652A>T | |
| 3 | g.190388256C>A | CA355762392 | CLDN16 | c.-74C>A (n.-74C>A) c.137C>A (p.Thr46Asn) n.306+13653C>A | |
| 3 | g.190388256C>G | CA355762393 | CLDN16 | c.-74C>G (n.-74C>G) c.137C>G (p.Thr46Ser) n.306+13653C>G | |
| 3 | g.190388256C>T | CA355762394 | CLDN16 | c.-74C>T (n.-74C>T) c.137C>T (p.Thr46Ile) n.306+13653C>T | |
| 3 | g.190388257T>A | CA437637196 | CLDN16 | c.-73T>A (n.-73T>A) c.138T>A (p.Thr46=) n.306+13654T>A | |
| 3 | g.190388257T>C | CA437637198 | CLDN16 | c.-73T>C (n.-73T>C) c.138T>C (p.Thr46=) n.306+13654T>C | gnomAD v4 |
| 3 | g.190388257T>G | CA437637197 | CLDN16 | c.-73T>G (n.-73T>G) c.138T>G (p.Thr46=) n.306+13654T>G | |
| 3 | g.190388258G>A | CA355762397 | CLDN16 | c.-72G>A (n.-72G>A) c.139G>A (p.Asp47Asn) n.306+13655G>A | |
| 3 | g.190388258G>C | CA355762395 | CLDN16 | c.-72G>C (n.-72G>C) c.139G>C (p.Asp47His) n.306+13655G>C | |
| 3 | g.190388258G>T | CA355762396 | CLDN16 | c.-72G>T (n.-72G>T) c.139G>T (p.Asp47Tyr) n.306+13655G>T | |
| 3 | g.190388259A= | CA1428775768 | CLDN16 | c.-71A= (n.-71A=) c.140A= (p.Asp47=) n.306+13656A= | |
| 3 | g.190388259A>C | CA355762398 | CLDN16 | c.-71A>C (n.-71A>C) c.140A>C (p.Asp47Ala) n.306+13656A>C | dbSNP |
| 3 | g.190388259A>G | CA355762399 | CLDN16 | c.-71A>G (n.-71A>G) c.140A>G (p.Asp47Gly) n.306+13656A>G | |
| 3 | g.190388259A>T | CA355762400 | CLDN16 | c.-71A>T (n.-71A>T) c.140A>T (p.Asp47Val) n.306+13656A>T | |
| 3 | g.190388260C>A | CA355762401 | CLDN16 | c.-70C>A (n.-70C>A) c.141C>A (p.Asp47Glu) n.306+13657C>A | |
| 3 | g.190388260C= | CA1428775770 | CLDN16 | c.-70C= (n.-70C=) c.141C= (p.Asp47=) n.306+13657C= | |
| 3 | g.190388260C>G | CA355762402 | CLDN16 | c.-70C>G (n.-70C>G) c.141C>G (p.Asp47Glu) n.306+13657C>G | |
| 3 | g.190388260C>T | CA437637202 | CLDN16 | c.-70C>T (n.-70C>T) c.141C>T (p.Asp47=) n.306+13657C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.190388261A= | CA1428775776 | CLDN16 | c.-69A= (n.-69A=) c.142A= (p.Thr48=) n.306+13658A= | |
| 3 | g.190388261A>C | CA2753702 | CLDN16 | c.-69A>C (n.-69A>C) c.142A>C (p.Thr48Pro) n.306+13658A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.190388261A>G | CA355762404 | CLDN16 | c.-69A>G (n.-69A>G) c.142A>G (p.Thr48Ala) n.306+13658A>G | |
| 3 | g.190388261A>T | CA355762403 | CLDN16 | c.-69A>T (n.-69A>T) c.142A>T (p.Thr48Ser) n.306+13658A>T | |
| 3 | g.190388262C>A | CA2753703 | CLDN16 | c.-68C>A (n.-68C>A) c.143C>A (p.Thr48Asn) n.306+13659C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.190388262C= | CA1428775779 | CLDN16 | c.-68C= (n.-68C=) c.143C= (p.Thr48=) n.306+13659C= | |
| 3 | g.190388262C>G | CA355762405 | CLDN16 | c.-68C>G (n.-68C>G) c.143C>G (p.Thr48Ser) n.306+13659C>G | |
| 3 | g.190388262C>T | CA355762406 | CLDN16 | c.-68C>T (n.-68C>T) c.143C>T (p.Thr48Ile) n.306+13659C>T | dbSNP gnomAD v4 |
| 3 | g.190388263C>A | CA437637203 | CLDN16 | c.-67C>A (n.-67C>A) c.144C>A (p.Thr48=) n.306+13660C>A | |
| 3 | g.190388263C= | CA1428775781 | CLDN16 | c.-67C= (n.-67C=) c.144C= (p.Thr48=) n.306+13660C= | |
| 3 | g.190388263C>G | CA2753704 | CLDN16 | c.-67C>G (n.-67C>G) c.144C>G (p.Thr48=) n.306+13660C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.190388263C>T | CA437637204 | CLDN16 | c.-67C>T (n.-67C>T) c.144C>T (p.Thr48=) n.306+13660C>T | dbSNP COSMIC |
| 3 | g.190388264C>A | CA355762407 | CLDN16 | c.-66C>A (n.-66C>A) c.145C>A (p.Arg49Ser) n.306+13661C>A | gnomAD v4 |
| 3 | g.190388264C= | CA1428775786 | CLDN16 | c.-66C= (n.-66C=) c.145C= (p.Arg49=) n.306+13661C= | |
| 3 | g.190388264C>G | CA355762408 | CLDN16 | c.-66C>G (n.-66C>G) c.145C>G (p.Arg49Gly) n.306+13661C>G | |
| 3 | g.190388264C>T | CA89749941 | CLDN16 | c.-66C>T (n.-66C>T) c.145C>T (p.Arg49Cys) n.306+13661C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.190388265G>A | CA2753705 | CLDN16 | c.-65G>A (n.-65G>A) c.146G>A (p.Arg49His) n.306+13662G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.190388265G>C | CA355762409 | CLDN16 | c.-65G>C (n.-65G>C) c.146G>C (p.Arg49Pro) n.306+13662G>C | |
| 3 | g.190388265G= | CA1428775790 | CLDN16 | c.-65G= (n.-65G=) c.146G= (p.Arg49=) n.306+13662G= | |
| 3 | g.190388265G>T | CA355762410 | CLDN16 | c.-65G>T (n.-65G>T) c.146G>T (p.Arg49Leu) n.306+13662G>T | |
| 3 | g.190388266C>A | CA437637206 | CLDN16 | c.-64C>A (n.-64C>A) c.147C>A (p.Arg49=) n.306+13663C>A | |
| 3 | g.190388266C>G | CA437637207 | CLDN16 | c.-64C>G (n.-64C>G) c.147C>G (p.Arg49=) n.306+13663C>G | |
| 3 | g.190388266C>T | CA437637208 | CLDN16 | c.-64C>T (n.-64C>T) c.147C>T (p.Arg49=) n.306+13663C>T | |
| 3 | g.190388267C>A | CA355762411 | CLDN16 | c.-63C>A (n.-63C>A) c.148C>A (p.His50Asn) n.306+13664C>A | |
| 3 | g.190388267C= | CA1428775793 | CLDN16 | c.-63C= (n.-63C=) c.148C= (p.His50=) n.306+13664C= | |
| 3 | g.190388267C>G | CA355762412 | CLDN16 | c.-63C>G (n.-63C>G) c.148C>G (p.His50Asp) n.306+13664C>G | |
| 3 | g.190388267C>T | CA355762413 | CLDN16 | c.-63C>T (n.-63C>T) c.148C>T (p.His50Tyr) n.306+13664C>T | ClinVar dbSNP |
| 3 | g.190388268A= | CA1428775797 | CLDN16 | c.-62A= (n.-62A=) c.149A= (p.His50=) n.306+13665A= | |
| 3 | g.190388268A>C | CA355762416 | CLDN16 | c.-62A>C (n.-62A>C) c.149A>C (p.His50Pro) n.306+13665A>C | |
| 3 | g.190388268A>G | CA355762414 | CLDN16 | c.-62A>G (n.-62A>G) c.149A>G (p.His50Arg) n.306+13665A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.190388268A>T | CA355762415 | CLDN16 | c.-62A>T (n.-62A>T) c.149A>T (p.His50Leu) n.306+13665A>T | |
| 3 | g.190388269C>A | CA355762417 | CLDN16 | c.-61C>A (n.-61C>A) c.150C>A (p.His50Gln) n.306+13666C>A | |
| 3 | g.190388269C= | CA1428775799 | CLDN16 | c.-61C= (n.-61C=) c.150C= (p.His50=) n.306+13666C= | |
| 3 | g.190388269C>G | CA355762418 | CLDN16 | c.-61C>G (n.-61C>G) c.150C>G (p.His50Gln) n.306+13666C>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.190388269C>T | CA437637211 | CLDN16 | c.-61C>T (n.-61C>T) c.150C>T (p.His50=) n.306+13666C>T | dbSNP gnomAD v4 |
| 3 | g.190388270T>A | CA355762419 | CLDN16 | c.-60T>A (n.-60T>A) c.151T>A (p.Leu51Ile) n.306+13667T>A | |
| 3 | g.190388270T>C | CA437637213 | CLDN16 | c.-60T>C (n.-60T>C) c.151T>C (p.Leu51=) n.306+13667T>C | |
| 3 | g.190388270T>G | CA355762420 | CLDN16 | c.-60T>G (n.-60T>G) c.151T>G (p.Leu51Val) n.306+13667T>G | |
| 3 | g.190388271T>A | CA355762421 | CLDN16 | c.-59T>A (n.-59T>A) c.152T>A (p.Leu51Ter) n.306+13668T>A | |
| 3 | g.190388271T>C | CA355762422 | CLDN16 | c.-59T>C (n.-59T>C) c.152T>C (p.Leu51Ser) n.306+13668T>C | |
| 3 | g.190388271T>G | CA355762423 | CLDN16 | c.-59T>G (n.-59T>G) c.152T>G (p.Leu51Ter) n.306+13668T>G | |
| 3 | g.190388272A= | CA1428775802 | CLDN16 | c.-58A= (n.-58A=) c.153A= (p.Leu51=) n.306+13669A= | |
| 3 | g.190388272A>C | CA2753706 | CLDN16 | c.-58A>C (n.-58A>C) c.153A>C (p.Leu51Phe) n.306+13669A>C | dbSNP ExAC gnomAD v2 |
| 3 | g.190388272A>G | CA437637214 | CLDN16 | c.-58A>G (n.-58A>G) c.153A>G (p.Leu51=) n.306+13669A>G | |
| 3 | g.190388272A>T | CA355762424 | CLDN16 | c.-58A>T (n.-58A>T) c.153A>T (p.Leu51Phe) n.306+13669A>T | |
| 3 | g.190388273A>C | CA355762425 | CLDN16 | c.-57A>C (n.-57A>C) c.154A>C (p.Ser52Arg) n.306+13670A>C | |
| 3 | g.190388273A>G | CA355762426 | CLDN16 | c.-57A>G (n.-57A>G) c.154A>G (p.Ser52Gly) n.306+13670A>G | |
| 3 | g.190388273A>T | CA355762427 | CLDN16 | c.-57A>T (n.-57A>T) c.154A>T (p.Ser52Cys) n.306+13670A>T | |
| 3 | g.190388274G>A | CA355762428 | CLDN16 | c.-56G>A (n.-56G>A) c.155G>A (p.Ser52Asn) n.306+13671G>A | |
| 3 | g.190388274G>C | CA355762430 | CLDN16 | c.-56G>C (n.-56G>C) c.155G>C (p.Ser52Thr) n.306+13671G>C | |
| 3 | g.190388274G>T | CA355762429 | CLDN16 | c.-56G>T (n.-56G>T) c.155G>T (p.Ser52Ile) n.306+13671G>T | |
| 3 | g.190388275T>A | CA355762431 | CLDN16 | c.-55T>A (n.-55T>A) c.156T>A (p.Ser52Arg) n.306+13672T>A | |
| 3 | g.190388275T>C | CA2753707 | CLDN16 | c.-55T>C (n.-55T>C) c.156T>C (p.Ser52=) n.306+13672T>C | dbSNP ExAC gnomAD v2 |
| 3 | g.190388275T>G | CA355762432 | CLDN16 | c.-55T>G (n.-55T>G) c.156T>G (p.Ser52Arg) n.306+13672T>G | |
| 3 | g.190388275T= | CA1428775804 | CLDN16 | c.-55T= (n.-55T=) c.156T= (p.Ser52=) n.306+13672T= | |
| 3 | g.190388276G>A | CA355762433 | CLDN16 | c.-54G>A (n.-54G>A) c.157G>A (p.Gly53Arg) n.306+13673G>A | |
| 3 | g.190388276G>C | CA355762434 | CLDN16 | c.-54G>C (n.-54G>C) c.157G>C (p.Gly53Arg) n.306+13673G>C | |
| 3 | g.190388276G>T | CA355762435 | CLDN16 | c.-54G>T (n.-54G>T) c.157G>T (p.Gly53Trp) n.306+13673G>T | |
| 3 | g.190388277G>A | CA355762436 | CLDN16 | c.-53G>A (n.-53G>A) c.158G>A (p.Gly53Glu) n.306+13674G>A | |
| 3 | g.190388277G>C | CA355762437 | CLDN16 | c.-53G>C (n.-53G>C) c.158G>C (p.Gly53Ala) n.306+13674G>C | |
| 3 | g.190388277G= | CA1428775808 | CLDN16 | c.-53G= (n.-53G=) c.158G= (p.Gly53=) n.306+13674G= | |
| 3 | g.190388277G>T | CA2753708 | CLDN16 | c.-53G>T (n.-53G>T) c.158G>T (p.Gly53Val) n.306+13674G>T | dbSNP ExAC gnomAD v2 |
| 3 | g.190388278G>A | CA437637221 | CLDN16 | c.-52G>A (n.-52G>A) c.159G>A (p.Gly53=) n.306+13675G>A | |
| 3 | g.190388278G>C | CA437637222 | CLDN16 | c.-52G>C (n.-52G>C) c.159G>C (p.Gly53=) n.306+13675G>C | |
| 3 | g.190388278G>T | CA437637220 | CLDN16 | c.-52G>T (n.-52G>T) c.159G>T (p.Gly53=) n.306+13675G>T | |
| 3 | g.190388279G>A | CA355762438 | CLDN16 | c.-51G>A (n.-51G>A) c.160G>A (p.Ala54Thr) n.306+13676G>A | |
| 3 | g.190388279G>C | CA355762439 | CLDN16 | c.-51G>C (n.-51G>C) c.160G>C (p.Ala54Pro) n.306+13676G>C | |
| 3 | g.190388279G= | CA1428775810 | CLDN16 | c.-51G= (n.-51G=) c.160G= (p.Ala54=) n.306+13676G= | |
| 3 | g.190388279G>T | CA355762440 | CLDN16 | c.-51G>T (n.-51G>T) c.160G>T (p.Ala54Ser) n.306+13676G>T | |
| 3 | g.190388279_190388280delinsGC | CA1428775811 | CLDN16 | c.-51_-50delinsGC (n.-51_-50delinsGC) c.160_161delinsGC (p.Ala54=) n.306+13676_306+13677delinsGC | |
| 3 | g.190388280C>A | CA89749961 | CLDN16 | c.-50C>A (n.-50C>A) c.161C>A (p.Ala54Asp) n.306+13677C>A | dbSNP gnomAD v4 |
| 3 | g.190388280C= | CA1428775816 | CLDN16 | c.-50C= (n.-50C=) c.161C= (p.Ala54=) n.306+13677C= | |
| 3 | g.190388280C>G | CA355762441 | CLDN16 | c.-50C>G (n.-50C>G) c.161C>G (p.Ala54Gly) n.306+13677C>G | |
| 3 | g.190388280C>T | CA355762442 | CLDN16 | c.-50C>T (n.-50C>T) c.161C>T (p.Ala54Val) n.306+13677C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.190388280delinsTCTTCCGATCT | CA917094512 | CLDN16 | c.-50delinsTCTTCCGATCT (n.-50delinsTCTTCCGATCT) c.161delinsTCTTCCGATCT (p.Ala54ValfsTer15) n.306+13677delinsTCTTCCGATCT | dbSNP |
| 3 | g.190388281dup | CA89749953 | CLDN16 | c.-49dup (n.-49dup) c.162dup (p.Arg55GlnfsTer11) n.306+13678dup | dbSNP |
| 3 | g.190388281C>A | CA437637224 | CLDN16 | c.-49C>A (n.-49C>A) c.162C>A (p.Ala54=) n.306+13678C>A | |
| 3 | g.190388281C= | CA1428775820 | CLDN16 | c.-49C= (n.-49C=) c.162C= (p.Ala54=) n.306+13678C= | |
| 3 | g.190388281C>G | CA437637225 | CLDN16 | c.-49C>G (n.-49C>G) c.162C>G (p.Ala54=) n.306+13678C>G | |
| 3 | g.190388281C>T | CA437637226 | CLDN16 | c.-49C>T (n.-49C>T) c.162C>T (p.Ala54=) n.306+13678C>T | dbSNP gnomAD v4 |
| 3 | g.190388282A>C | CA437637227 | CLDN16 | c.-48A>C (n.-48A>C) c.163A>C (p.Arg55=) n.306+13679A>C | |
| 3 | g.190388282A>G | CA355762444 | CLDN16 | c.-48A>G (n.-48A>G) c.163A>G (p.Arg55Gly) n.306+13679A>G | |
| 3 | g.190388282A>T | CA355762443 | CLDN16 | c.-48A>T (n.-48A>T) c.163A>T (p.Arg55Trp) n.306+13679A>T | |
| 3 | g.190388282_190388283delinsAG | CA2497029114 | CLDN16 | c.-48_-47delinsAG (n.-48_-47delinsAG) c.163_164delinsAG (p.Arg55=) n.306+13679_306+13680delinsAG | |
| 3 | g.190388282_190388284delinsAGG | CA1428775825 | CLDN16 | c.-48_-46delinsAGG (n.-48_-46delinsAGG) c.163_165delinsAGG (p.Arg55=) n.306+13679_306+13681delinsAGG | |
| 3 | g.190388282_190388285delinsAGGG | CA1428775826 | CLDN16 | c.-48_-45delinsAGGG (n.-48_-45delinsAGGG) c.163_166delinsAGGG (p.Arg55=) n.306+13679_306+13682delinsAGGG | |
| 3 | g.190388283G>A | CA89749978 | CLDN16 | c.-47G>A (n.-47G>A) c.164G>A (p.Arg55Lys) n.306+13680G>A | dbSNP gnomAD v4 |
| 3 | g.190388283G>C | CA355762445 | CLDN16 | c.-47G>C (n.-47G>C) c.164G>C (p.Arg55Thr) n.306+13680G>C | |
| 3 | g.190388283G= | CA1428775837 | CLDN16 | c.-47G= (n.-47G=) c.164G= (p.Arg55=) n.306+13680G= | |
| 3 | g.190388283G>T | CA355762446 | CLDN16 | c.-47G>T (n.-47G>T) c.164G>T (p.Arg55Met) n.306+13680G>T | |
| 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.190388284G>A | CA2753711 | CLDN16 | c.-46G>A (n.-46G>A) c.165G>A (p.Arg55=) n.306+13681G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.190388284G>C | CA89750000 | CLDN16 | c.-46G>C (n.-46G>C) c.165G>C (p.Arg55Ser) n.306+13681G>C | dbSNP |
| 3 | g.190388284G= | CA1428775845 | CLDN16 | c.-46G= (n.-46G=) c.165G= (p.Arg55=) n.306+13681G= | |
| 3 | g.190388284G>T | CA355762447 | CLDN16 | c.-46G>T (n.-46G>T) c.165G>T (p.Arg55Ser) n.306+13681G>T | |
| 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 |