OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 3 | g.190388386T>A | CA355762657 | CLDN16 | c.57T>A (p.Phe19Leu) c.267T>A (p.Phe89Leu) n.306+13783T>A | |
| 3 | g.190388386T>C | CA437637314 | CLDN16 | c.57T>C (p.Phe19=) c.267T>C (p.Phe89=) n.306+13783T>C | |
| 3 | g.190388386T>G | CA355762658 | CLDN16 | c.57T>G (p.Phe19Leu) c.267T>G (p.Phe89Leu) n.306+13783T>G | |
| 3 | g.190388387T>A | CA355762659 | CLDN16 | c.58T>A (p.Leu20Met) c.268T>A (p.Leu90Met) n.306+13784T>A | |
| 3 | g.190388387T>C | CA437637317 | CLDN16 | c.58T>C (p.Leu20=) c.268T>C (p.Leu90=) n.306+13784T>C | |
| 3 | g.190388387T>G | CA355762660 | CLDN16 | c.58T>G (p.Leu20Val) c.268T>G (p.Leu90Val) n.306+13784T>G | |
| 3 | g.190388388T>A | CA355762661 | CLDN16 | c.59T>A (p.Leu20Ter) c.269T>A (p.Leu90Ter) n.306+13785T>A | |
| 3 | g.190388388T>C | CA355762662 | CLDN16 | c.59T>C (p.Leu20Ser) c.269T>C (p.Leu90Ser) n.306+13785T>C | |
| 3 | g.190388388T>G | CA355762663 | CLDN16 | c.59T>G (p.Leu20Trp) c.269T>G (p.Leu90Trp) n.306+13785T>G | |
| 3 | g.190388389G>A | CA437637318 | CLDN16 | c.60G>A (p.Leu20=) c.270G>A (p.Leu90=) n.306+13786G>A | |
| 3 | g.190388389G>C | CA355762664 | CLDN16 | c.60G>C (p.Leu20Phe) c.270G>C (p.Leu90Phe) n.306+13786G>C | |
| 3 | g.190388389G= | CA1428776063 | CLDN16 | c.60G= (p.Leu20=) c.270G= (p.Leu90=) n.306+13786G= | |
| 3 | g.190388389G>T | CA2753735 | CLDN16 | c.60G>T (p.Leu20Phe) c.270G>T (p.Leu90Phe) n.306+13786G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.190388390A>C | CA355762665 | CLDN16 | c.61A>C (p.Ile21Leu) c.271A>C (p.Ile91Leu) n.306+13787A>C | gnomAD v4 |
| 3 | g.190388390A>G | CA355762666 | CLDN16 | c.61A>G (p.Ile21Val) c.271A>G (p.Ile91Val) n.306+13787A>G | |
| 3 | g.190388390A>T | CA355762667 | CLDN16 | c.61A>T (p.Ile21Phe) c.271A>T (p.Ile91Phe) n.306+13787A>T | |
| 3 | g.190388391T>A | CA355762669 | CLDN16 | c.62T>A (p.Ile21Asn) c.272T>A (p.Ile91Asn) n.306+13788T>A | |
| 3 | g.190388391T>C | CA2753736 | CLDN16 | c.62T>C (p.Ile21Thr) c.272T>C (p.Ile91Thr) n.306+13788T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.190388391T>G | CA355762668 | CLDN16 | c.62T>G (p.Ile21Ser) c.272T>G (p.Ile91Ser) n.306+13788T>G | |
| 3 | g.190388391T= | CA1428776067 | CLDN16 | c.62T= (p.Ile21=) c.272T= (p.Ile91=) n.306+13788T= | |
| 3 | g.190388392T>A | CA437637322 | CLDN16 | c.63T>A (p.Ile21=) c.273T>A (p.Ile91=) n.306+13789T>A | |
| 3 | g.190388392T>C | CA437637321 | CLDN16 | c.63T>C (p.Ile21=) c.273T>C (p.Ile91=) n.306+13789T>C | |
| 3 | g.190388392T>G | CA355762670 | CLDN16 | c.63T>G (p.Ile21Met) c.273T>G (p.Ile91Met) n.306+13789T>G | |
| 3 | g.190388393G>A | CA355762671 | CLDN16 | c.64G>A (p.Val22Met) c.274G>A (p.Val92Met) n.306+13790G>A | gnomAD v4 |
| 3 | g.190388393G>C | CA355762672 | CLDN16 | c.64G>C (p.Val22Leu) c.274G>C (p.Val92Leu) n.306+13790G>C | |
| 3 | g.190388393G>T | CA355762673 | CLDN16 | c.64G>T (p.Val22Leu) c.274G>T (p.Val92Leu) n.306+13790G>T | dbSNP |
| 3 | g.190388394T>A | CA355762674 | CLDN16 | c.65T>A (p.Val22Glu) c.275T>A (p.Val92Glu) n.306+13791T>A | |
| 3 | g.190388394T>C | CA355762675 | CLDN16 | c.65T>C (p.Val22Ala) c.275T>C (p.Val92Ala) n.306+13791T>C | |
| 3 | g.190388394T>G | CA355762676 | CLDN16 | c.65T>G (p.Val22Gly) c.275T>G (p.Val92Gly) n.306+13791T>G | |
| 3 | g.190388395G>A | CA437637323 | CLDN16 | c.66G>A (p.Val22=) c.276G>A (p.Val92=) n.306+13792G>A | |
| 3 | g.190388395G>C | CA437637325 | CLDN16 | c.66G>C (p.Val22=) c.276G>C (p.Val92=) n.306+13792G>C | |
| 3 | g.190388395G>T | CA437637324 | CLDN16 | c.66G>T (p.Val22=) c.276G>T (p.Val92=) n.306+13792G>T | |
| 3 | g.190388396G>A | CA355762677 | CLDN16 | c.67G>A (p.Ala23Thr) c.277G>A (p.Ala93Thr) n.306+13793G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.190388396G>C | CA355762678 | CLDN16 | c.67G>C (p.Ala23Pro) c.277G>C (p.Ala93Pro) n.306+13793G>C | |
| 3 | g.190388396G= | CA1428776072 | CLDN16 | c.67G= (p.Ala23=) c.277G= (p.Ala93=) n.306+13793G= | |
| 3 | g.190388396G>T | CA355762679 | CLDN16 | c.67G>T (p.Ala23Ser) c.277G>T (p.Ala93Ser) n.306+13793G>T | |
| 3 | g.190388397C>A | CA355762680 | CLDN16 | c.68C>A (p.Ala23Asp) c.278C>A (p.Ala93Asp) n.306+13794C>A | |
| 3 | g.190388397C>G | CA355762681 | CLDN16 | c.68C>G (p.Ala23Gly) c.278C>G (p.Ala93Gly) n.306+13794C>G | |
| 3 | g.190388397C>T | CA355762682 | CLDN16 | c.68C>T (p.Ala23Val) c.278C>T (p.Ala93Val) n.306+13794C>T | |
| 3 | g.190388398C>A | CA437637328 | CLDN16 | c.69C>A (p.Ala23=) c.279C>A (p.Ala93=) n.306+13795C>A | |
| 3 | g.190388398C>G | CA437637327 | CLDN16 | c.69C>G (p.Ala23=) c.279C>G (p.Ala93=) n.306+13795C>G | |
| 3 | g.190388398C>T | CA437637326 | CLDN16 | c.69C>T (p.Ala23=) c.279C>T (p.Ala93=) n.306+13795C>T | |
| 3 | g.190388399A>C | CA355762685 | CLDN16 | c.70A>C (p.Thr24Pro) c.280A>C (p.Thr94Pro) n.306+13796A>C | |
| 3 | g.190388399A>G | CA355762683 | CLDN16 | c.70A>G (p.Thr24Ala) c.280A>G (p.Thr94Ala) n.306+13796A>G | |
| 3 | g.190388399A>T | CA355762684 | CLDN16 | c.70A>T (p.Thr24Ser) c.280A>T (p.Thr94Ser) n.306+13796A>T | COSMIC |
| 3 | g.190388400C>A | CA355762686 | CLDN16 | c.71C>A (p.Thr24Asn) c.281C>A (p.Thr94Asn) n.306+13797C>A | |
| 3 | g.190388400C>G | CA355762687 | CLDN16 | c.71C>G (p.Thr24Ser) c.281C>G (p.Thr94Ser) n.306+13797C>G | |
| 3 | g.190388400C>T | CA355762688 | CLDN16 | c.71C>T (p.Thr24Ile) c.281C>T (p.Thr94Ile) n.306+13797C>T | |
| 3 | g.190388401C>A | CA437637329 | CLDN16 | c.72C>A (p.Thr24=) c.282C>A (p.Thr94=) n.306+13798C>A | |
| 3 | g.190388401C>G | CA437637331 | CLDN16 | c.72C>G (p.Thr24=) c.282C>G (p.Thr94=) n.306+13798C>G | |
| 3 | g.190388401C>T | CA437637330 | CLDN16 | c.72C>T (p.Thr24=) c.282C>T (p.Thr94=) n.306+13798C>T | COSMIC |
| 3 | g.190388402T>A | CA355762689 | CLDN16 | c.73T>A (p.Trp25Arg) c.283T>A (p.Trp95Arg) n.306+13799T>A | |
| 3 | g.190388402T>C | CA355762690 | CLDN16 | c.73T>C (p.Trp25Arg) c.283T>C (p.Trp95Arg) n.306+13799T>C | |
| 3 | g.190388402T>G | CA355762691 | CLDN16 | c.73T>G (p.Trp25Gly) c.283T>G (p.Trp95Gly) n.306+13799T>G | ClinVar |
| 3 | g.190388403G>A | CA355762692 | CLDN16 | c.74G>A (p.Trp25Ter) c.284G>A (p.Trp95Ter) n.306+13800G>A | |
| 3 | g.190388403G>C | CA355762693 | CLDN16 | c.74G>C (p.Trp25Ser) c.284G>C (p.Trp95Ser) n.306+13800G>C | |
| 3 | g.190388403G>T | CA355762694 | CLDN16 | c.74G>T (p.Trp25Leu) c.284G>T (p.Trp95Leu) n.306+13800G>T | |
| 3 | g.190388404G>A | CA355762695 | CLDN16 | c.75G>A (p.Trp25Ter) c.285G>A (p.Trp95Ter) n.306+13801G>A | |
| 3 | g.190388404G>C | CA355762696 | CLDN16 | c.75G>C (p.Trp25Cys) c.285G>C (p.Trp95Cys) n.306+13801G>C | |
| 3 | g.190388404G= | CA1428776078 | CLDN16 | c.75G= (p.Trp25=) c.285G= (p.Trp95=) n.306+13801G= | |
| 3 | g.190388404G>T | CA355762697 | CLDN16 | c.75G>T (p.Trp25Cys) c.285G>T (p.Trp95Cys) n.306+13801G>T | |
| 3 | g.190388404_190388405insCAATGTGAAAAT | CA1428776080 | CLDN16 | c.75_76insCAATGTGAAAAT (p.Trp25_Thr26insGlnCysGluAsn) c.285_286insCAATGTGAAAAT (p.Trp95_Thr96insGlnCysGluAsn) n.306+13801_306+13802insCAATGTGAAAAT | dbSNP |
| 3 | g.190388405A= | CA1428776081 | CLDN16 | c.76A= (p.Thr26=) c.286A= (p.Thr96=) n.306+13802A= | |
| 3 | g.190388405A>C | CA355762699 | CLDN16 | c.76A>C (p.Thr26Pro) c.286A>C (p.Thr96Pro) n.306+13802A>C | |
| 3 | g.190388405A>G | CA355762700 | CLDN16 | c.76A>G (p.Thr26Ala) c.286A>G (p.Thr96Ala) n.306+13802A>G | |
| 3 | g.190388405A>T | CA355762698 | CLDN16 | c.76A>T (p.Thr26Ser) c.286A>T (p.Thr96Ser) n.306+13802A>T | dbSNP |
| 3 | g.190388406C>A | CA355762703 | CLDN16 | c.77C>A (p.Thr26Asn) c.287C>A (p.Thr96Asn) n.306+13803C>A | |
| 3 | g.190388406C>G | CA355762701 | CLDN16 | c.77C>G (p.Thr26Ser) c.287C>G (p.Thr96Ser) n.306+13803C>G | gnomAD v4 |
| 3 | g.190388406C>T | CA355762702 | CLDN16 | c.77C>T (p.Thr26Ile) c.287C>T (p.Thr96Ile) n.306+13803C>T | ClinVar |
| 3 | g.190388407T>A | CA437637334 | CLDN16 | c.78T>A (p.Thr26=) c.288T>A (p.Thr96=) n.306+13804T>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.190388407T>C | CA437637336 | CLDN16 | c.78T>C (p.Thr26=) c.288T>C (p.Thr96=) n.306+13804T>C | |
| 3 | g.190388407T>G | CA437637337 | CLDN16 | c.78T>G (p.Thr26=) c.288T>G (p.Thr96=) n.306+13804T>G | |
| 3 | g.190388407T= | CA1428776085 | CLDN16 | c.78T= (p.Thr26=) c.288T= (p.Thr96=) n.306+13804T= | |
| 3 | g.190388408G>A | CA355762704 | CLDN16 | c.79G>A (p.Asp27Asn) c.289G>A (p.Asp97Asn) n.306+13805G>A | |
| 3 | g.190388408G>C | CA355762705 | CLDN16 | c.79G>C (p.Asp27His) c.289G>C (p.Asp97His) n.306+13805G>C | |
| 3 | g.190388408G>T | CA355762706 | CLDN16 | c.79G>T (p.Asp27Tyr) c.289G>T (p.Asp97Tyr) n.306+13805G>T | |
| 3 | g.190388409A= | CA1428776089 | CLDN16 | c.80A= (p.Asp27=) c.290A= (p.Asp97=) n.306+13806A= | |
| 3 | g.190388409A>C | CA355762709 | CLDN16 | c.80A>C (p.Asp27Ala) c.290A>C (p.Asp97Ala) n.306+13806A>C | |
| 3 | g.190388409A>G | CA355762708 | CLDN16 | c.80A>G (p.Asp27Gly) c.290A>G (p.Asp97Gly) n.306+13806A>G | dbSNP |
| 3 | g.190388409A>T | CA355762707 | CLDN16 | c.80A>T (p.Asp27Val) c.290A>T (p.Asp97Val) n.306+13806A>T | |
| 3 | g.190388410C>A | CA355762710 | CLDN16 | c.81C>A (p.Asp27Glu) c.291C>A (p.Asp97Glu) n.306+13807C>A | |
| 3 | g.190388410C= | CA1428776092 | CLDN16 | c.81C= (p.Asp27=) c.291C= (p.Asp97=) n.306+13807C= | |
| 3 | g.190388410C>G | CA355762711 | CLDN16 | c.81C>G (p.Asp27Glu) c.291C>G (p.Asp97Glu) n.306+13807C>G | |
| 3 | g.190388410C>T | CA2753737 | CLDN16 | c.81C>T (p.Asp27=) c.291C>T (p.Asp97=) n.306+13807C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.190388411T>A | CA355762712 | CLDN16 | c.82T>A (p.Cys28Ser) c.292T>A (p.Cys98Ser) n.306+13808T>A | |
| 3 | g.190388411T>C | CA355762713 | CLDN16 | c.82T>C (p.Cys28Arg) c.292T>C (p.Cys98Arg) n.306+13808T>C | |
| 3 | g.190388411T>G | CA355762714 | CLDN16 | c.82T>G (p.Cys28Gly) c.292T>G (p.Cys98Gly) n.306+13808T>G | |
| 3 | g.190388412G>A | CA355762717 | CLDN16 | c.83G>A (p.Cys28Tyr) c.293G>A (p.Cys98Tyr) n.306+13809G>A | |
| 3 | g.190388412G>C | CA355762720 | CLDN16 | c.83G>C (p.Cys28Ser) c.293G>C (p.Cys98Ser) n.306+13809G>C | |
| 3 | g.190388412G>T | CA355762718 | CLDN16 | c.83G>T (p.Cys28Phe) c.293G>T (p.Cys98Phe) n.306+13809G>T | gnomAD v4 COSMIC |
| 3 | g.190388413T>A | CA355762722 | CLDN16 | c.84T>A (p.Cys28Ter) c.294T>A (p.Cys98Ter) n.306+13810T>A | |
| 3 | g.190388413T>C | CA437637341 | CLDN16 | c.84T>C (p.Cys28=) c.294T>C (p.Cys98=) n.306+13810T>C | |
| 3 | g.190388413T>G | CA355762723 | CLDN16 | c.84T>G (p.Cys28Trp) c.294T>G (p.Cys98Trp) n.306+13810T>G | |
| 3 | g.190388414T>A | CA355762725 | CLDN16 | c.85T>A (p.Trp29Arg) c.295T>A (p.Trp99Arg) n.306+13811T>A | |
| 3 | g.190388414T>C | CA355762727 | CLDN16 | c.85T>C (p.Trp29Arg) c.295T>C (p.Trp99Arg) n.306+13811T>C | |
| 3 | g.190388414T>G | CA355762729 | CLDN16 | c.85T>G (p.Trp29Gly) c.295T>G (p.Trp99Gly) n.306+13811T>G | |
| 3 | g.190388415G>A | CA355762731 | CLDN16 | c.86G>A (p.Trp29Ter) c.296G>A (p.Trp99Ter) n.306+13812G>A | |
| 3 | g.190388415G>C | CA355762733 | CLDN16 | c.86G>C (p.Trp29Ser) c.296G>C (p.Trp99Ser) n.306+13812G>C | |
| 3 | g.190388415G>T | CA355762735 | CLDN16 | c.86G>T (p.Trp29Leu) c.296G>T (p.Trp99Leu) n.306+13812G>T | |
| 3 | g.190388416G>A | CA355762736 | CLDN16 | c.87G>A (p.Trp29Ter) c.297G>A (p.Trp99Ter) n.306+13813G>A | |
| 3 | g.190388416G>C | CA16617861 | CLDN16 | c.87G>C (p.Trp29Cys) c.297G>C (p.Trp99Cys) n.306+13813G>C | ClinVar dbSNP gnomAD v4 |
| 3 | g.190388416G= | CA1428776095 | CLDN16 | c.87G= (p.Trp29=) c.297G= (p.Trp99=) n.306+13813G= | |
| 3 | g.190388416G>T | CA355762738 | CLDN16 | c.87G>T (p.Trp29Cys) c.297G>T (p.Trp99Cys) n.306+13813G>T | |
| 3 | g.190388417A= | CA1428776100 | CLDN16 | c.88A= (p.Met30=) c.298A= (p.Met100=) n.306+13814A= | |
| 3 | g.190388417A>C | CA355762741 | CLDN16 | c.88A>C (p.Met30Leu) c.298A>C (p.Met100Leu) n.306+13814A>C | |
| 3 | g.190388417A>G | CA2753738 | CLDN16 | c.88A>G (p.Met30Val) c.298A>G (p.Met100Val) n.306+13814A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.190388417A>T | CA89750201 | CLDN16 | c.88A>T (p.Met30Leu) c.298A>T (p.Met100Leu) n.306+13814A>T | dbSNP |
| 3 | g.190388418T>A | CA355762747 | CLDN16 | c.89T>A (p.Met30Lys) c.299T>A (p.Met100Lys) n.306+13815T>A | |
| 3 | g.190388418T>C | CA355762743 | CLDN16 | c.89T>C (p.Met30Thr) c.299T>C (p.Met100Thr) n.306+13815T>C | |
| 3 | g.190388418T>G | CA355762745 | CLDN16 | c.89T>G (p.Met30Arg) c.299T>G (p.Met100Arg) n.306+13815T>G | |
| 3 | g.190388419G>A | CA355762749 | CLDN16 | c.90G>A (p.Met30Ile) c.300G>A (p.Met100Ile) n.306+13816G>A | |
| 3 | g.190388419G>C | CA355762751 | CLDN16 | c.90G>C (p.Met30Ile) c.300G>C (p.Met100Ile) n.306+13816G>C | |
| 3 | g.190388419G>T | CA355762752 | CLDN16 | c.90G>T (p.Met30Ile) c.300G>T (p.Met100Ile) n.306+13816G>T | |
| 3 | g.190388420G>A | CA355762758 | CLDN16 | c.91G>A (p.Val31Met) c.301G>A (p.Val101Met) n.306+13817G>A | |
| 3 | g.190388420G>C | CA355762757 | CLDN16 | c.91G>C (p.Val31Leu) c.301G>C (p.Val101Leu) n.306+13817G>C | |
| 3 | g.190388420G>T | CA355762755 | CLDN16 | c.91G>T (p.Val31Leu) c.301G>T (p.Val101Leu) n.306+13817G>T | |
| 3 | g.190388421T>A | CA355762761 | CLDN16 | c.92T>A (p.Val31Glu) c.302T>A (p.Val101Glu) n.306+13818T>A | |
| 3 | g.190388421T>C | CA355762763 | CLDN16 | c.92T>C (p.Val31Ala) c.302T>C (p.Val101Ala) n.306+13818T>C | |
| 3 | g.190388421T>G | CA355762764 | CLDN16 | c.92T>G (p.Val31Gly) c.302T>G (p.Val101Gly) n.306+13818T>G | |
| 3 | g.190388422G>A | CA437637346 | CLDN16 | c.93G>A (p.Val31=) c.303G>A (p.Val101=) n.306+13819G>A | |
| 3 | g.190388422G>C | CA437637348 | CLDN16 | c.93G>C (p.Val31=) c.303G>C (p.Val101=) n.306+13819G>C | |
| 3 | g.190388422G>T | CA437637347 | CLDN16 | c.93G>T (p.Val31=) c.303G>T (p.Val101=) n.306+13819G>T | gnomAD v4 |
| 3 | g.190388423A>C | CA355762766 | CLDN16 | c.94A>C (p.Asn32His) c.304A>C (p.Asn102His) n.306+13820A>C | |
| 3 | g.190388423A>G | CA355762768 | CLDN16 | c.94A>G (p.Asn32Asp) c.304A>G (p.Asn102Asp) n.306+13820A>G | |
| 3 | g.190388423A>T | CA355762769 | CLDN16 | c.94A>T (p.Asn32Tyr) c.304A>T (p.Asn102Tyr) n.306+13820A>T | |
| 3 | g.190388424A>C | CA355762771 | CLDN16 | c.95A>C (p.Asn32Thr) c.305A>C (p.Asn102Thr) n.306+13821A>C | |
| 3 | g.190388424A>G | CA355762775 | CLDN16 | c.95A>G (p.Asn32Ser) c.305A>G (p.Asn102Ser) n.306+13821A>G | |
| 3 | g.190388424A>T | CA355762773 | CLDN16 | c.95A>T (p.Asn32Ile) c.305A>T (p.Asn102Ile) n.306+13821A>T | |
| 3 | g.190388425T>A | CA355762776 | CLDN16 | c.96T>A (p.Asn32Lys) c.306T>A (p.Asn102Lys) n.306+13822T>A | |
| 3 | g.190388425T>C | CA437637350 | CLDN16 | c.96T>C (p.Asn32=) c.306T>C (p.Asn102=) n.306+13822T>C | dbSNP |
| 3 | g.190388425T>G | CA355762778 | CLDN16 | c.96T>G (p.Asn32Lys) c.306T>G (p.Asn102Lys) n.306+13822T>G | |
| 3 | g.190388425T= | CA1428776103 | CLDN16 | c.96T= (p.Asn32=) c.306T= (p.Asn102=) n.306+13822T= | |
| 3 | g.190388426G>A | CA355762780 | CLDN16 | c.97G>A (p.Ala33Thr) c.307G>A (p.Ala103Thr) n.306+13823G>A | |
| 3 | g.190388426G>C | CA355762782 | CLDN16 | c.97G>C (p.Ala33Pro) c.307G>C (p.Ala103Pro) n.306+13823G>C | |
| 3 | g.190388426G>T | CA355762784 | CLDN16 | c.97G>T (p.Ala33Ser) c.307G>T (p.Ala103Ser) n.306+13823G>T | |
| 3 | g.190388427C>A | CA355762786 | CLDN16 | c.98C>A (p.Ala33Asp) c.308C>A (p.Ala103Asp) n.306+13824C>A | |
| 3 | g.190388427C>G | CA355762788 | CLDN16 | c.98C>G (p.Ala33Gly) c.308C>G (p.Ala103Gly) n.306+13824C>G | |
| 3 | g.190388427C>T | CA355762790 | CLDN16 | c.98C>T (p.Ala33Val) c.308C>T (p.Ala103Val) n.306+13824C>T | |
| 3 | g.190388428T>A | CA437637351 | CLDN16 | c.99T>A (p.Ala33=) c.309T>A (p.Ala103=) n.306+13825T>A | |
| 3 | g.190388428T>C | CA2753739 | CLDN16 | c.99T>C (p.Ala33=) c.309T>C (p.Ala103=) n.306+13825T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.190388428T>G | CA437637352 | CLDN16 | c.99T>G (p.Ala33=) c.309T>G (p.Ala103=) n.306+13825T>G | |
| 3 | g.190388428T= | CA1428776107 | CLDN16 | c.99T= (p.Ala33=) c.309T= (p.Ala103=) n.306+13825T= | |
| 3 | g.190388429G>A | CA2753740 | CLDN16 | c.100G>A (p.Asp34Asn) c.310G>A (p.Asp104Asn) n.306+13826G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.190388429G>C | CA355762794 | CLDN16 | c.100G>C (p.Asp34His) c.310G>C (p.Asp104His) n.306+13826G>C | |
| 3 | g.190388429G= | CA1428776110 | CLDN16 | c.100G= (p.Asp34=) c.310G= (p.Asp104=) n.306+13826G= | |
| 3 | g.190388429G>T | CA355762796 | CLDN16 | c.100G>T (p.Asp34Tyr) c.310G>T (p.Asp104Tyr) n.306+13826G>T | COSMIC |
| 3 | g.190388430A>C | CA355762800 | CLDN16 | c.101A>C (p.Asp34Ala) c.311A>C (p.Asp104Ala) n.306+13827A>C | |
| 3 | g.190388430A>G | CA355762802 | CLDN16 | c.101A>G (p.Asp34Gly) c.311A>G (p.Asp104Gly) n.306+13827A>G | dbSNP |
| 3 | g.190388430A>T | CA355762798 | CLDN16 | c.101A>T (p.Asp34Val) c.311A>T (p.Asp104Val) n.306+13827A>T | |
| 3 | g.190388431T>A | CA355762804 | CLDN16 | c.102T>A (p.Asp34Glu) c.312T>A (p.Asp104Glu) n.306+13828T>A | |
| 3 | g.190388431T>C | CA437637354 | CLDN16 | c.102T>C (p.Asp34=) c.312T>C (p.Asp104=) n.306+13828T>C | |
| 3 | g.190388431T>G | CA355762806 | CLDN16 | c.102T>G (p.Asp34Glu) c.312T>G (p.Asp104Glu) n.306+13828T>G | |
| 3 | g.190388432G>A | CA355762807 | CLDN16 | c.103G>A (p.Asp35Asn) c.313G>A (p.Asp105Asn) n.306+13829G>A | ClinVar dbSNP |
| 3 | g.190388432G>C | CA355762808 | CLDN16 | c.103G>C (p.Asp35His) c.313G>C (p.Asp105His) n.306+13829G>C | |
| 3 | g.190388432G>T | CA355762810 | CLDN16 | c.103G>T (p.Asp35Tyr) c.313G>T (p.Asp105Tyr) n.306+13829G>T | gnomAD v4 |
| 3 | g.190388433A>C | CA355762813 | CLDN16 | c.104A>C (p.Asp35Ala) c.314A>C (p.Asp105Ala) n.306+13830A>C | |
| 3 | g.190388433A>G | CA355762815 | CLDN16 | c.104A>G (p.Asp35Gly) c.314A>G (p.Asp105Gly) n.306+13830A>G | |
| 3 | g.190388433A>T | CA355762816 | CLDN16 | c.104A>T (p.Asp35Val) c.314A>T (p.Asp105Val) n.306+13830A>T | |
| 3 | g.190388434C>A | CA355762817 | CLDN16 | c.105C>A (p.Asp35Glu) c.315C>A (p.Asp105Glu) n.306+13831C>A | gnomAD v4 |
| 3 | g.190388434C>G | CA355762819 | CLDN16 | c.105C>G (p.Asp35Glu) c.315C>G (p.Asp105Glu) n.306+13831C>G | |
| 3 | g.190388434C>T | CA437637355 | CLDN16 | c.105C>T (p.Asp35=) c.315C>T (p.Asp105=) n.306+13831C>T | |
| 3 | g.190388435T>A | CA355762821 | CLDN16 | c.106T>A (p.Ser36Thr) c.316T>A (p.Ser106Thr) n.306+13832T>A | |
| 3 | g.190388435T>C | CA2753741 | CLDN16 | c.106T>C (p.Ser36Pro) c.316T>C (p.Ser106Pro) n.306+13832T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.190388435T>G | CA355762824 | CLDN16 | c.106T>G (p.Ser36Ala) c.316T>G (p.Ser106Ala) n.306+13832T>G | |
| 3 | g.190388435T= | CA1428776114 | CLDN16 | c.106T= (p.Ser36=) c.316T= (p.Ser106=) n.306+13832T= | |
| 3 | g.190388436C>A | CA355762829 | CLDN16 | c.107C>A (p.Ser36Tyr) c.317C>A (p.Ser106Tyr) n.306+13833C>A | |
| 3 | g.190388436C>G | CA355762827 | CLDN16 | c.107C>G (p.Ser36Cys) c.317C>G (p.Ser106Cys) n.306+13833C>G | gnomAD v4 |
| 3 | g.190388436C>T | CA355762826 | CLDN16 | c.107C>T (p.Ser36Phe) c.317C>T (p.Ser106Phe) n.306+13833C>T | gnomAD v4 |
| 3 | g.190388437T>A | CA437637357 | CLDN16 | c.108T>A (p.Ser36=) c.318T>A (p.Ser106=) n.306+13834T>A | |
| 3 | g.190388437T>C | CA2753742 | CLDN16 | c.108T>C (p.Ser36=) c.318T>C (p.Ser106=) n.306+13834T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.190388437T>G | CA437637358 | CLDN16 | c.108T>G (p.Ser36=) c.318T>G (p.Ser106=) n.306+13834T>G | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.190388437T= | CA1428776117 | CLDN16 | c.108T= (p.Ser36=) c.318T= (p.Ser106=) n.306+13834T= | |
| 3 | g.190388438C>A | CA355762832 | CLDN16 | c.109C>A (p.Leu37Met) c.319C>A (p.Leu107Met) n.306+13835C>A | |
| 3 | g.190388438C= | CA1428776122 | CLDN16 | c.109C= (p.Leu37=) c.319C= (p.Leu107=) n.306+13835C= | |
| 3 | g.190388438C>G | CA355762834 | CLDN16 | c.109C>G (p.Leu37Val) c.319C>G (p.Leu107Val) n.306+13835C>G | |
| 3 | g.190388438C>T | CA437637359 | CLDN16 | c.109C>T (p.Leu37=) c.319C>T (p.Leu107=) n.306+13835C>T | dbSNP gnomAD v4 |
| 3 | g.190388439T>A | CA355762836 | CLDN16 | c.110T>A (p.Leu37Gln) c.320T>A (p.Leu107Gln) n.306+13836T>A | |
| 3 | g.190388439T>C | CA355762837 | CLDN16 | c.110T>C (p.Leu37Pro) c.320T>C (p.Leu107Pro) n.306+13836T>C | dbSNP |
| 3 | g.190388439T>G | CA355762839 | CLDN16 | c.110T>G (p.Leu37Arg) c.320T>G (p.Leu107Arg) n.306+13836T>G | |
| 3 | g.190388439T= | CA1428776124 | CLDN16 | c.110T= (p.Leu37=) c.320T= (p.Leu107=) n.306+13836T= | |
| 3 | g.190388440G>A | CA437637361 | CLDN16 | c.111G>A (p.Leu37=) c.321G>A (p.Leu107=) n.306+13837G>A | |
| 3 | g.190388440G>C | CA437637362 | CLDN16 | c.111G>C (p.Leu37=) c.321G>C (p.Leu107=) n.306+13837G>C | |
| 3 | g.190388440G>T | CA437637363 | CLDN16 | c.111G>T (p.Leu37=) c.321G>T (p.Leu107=) n.306+13837G>T | |
| 3 | g.190388441G>A | CA355762842 | CLDN16 | c.112G>A (p.Glu38Lys) c.322G>A (p.Glu108Lys) n.306+13838G>A | |
| 3 | g.190388441G>C | CA355762844 | CLDN16 | c.112G>C (p.Glu38Gln) c.322G>C (p.Glu108Gln) n.306+13838G>C | |
| 3 | g.190388441G>T | CA355762846 | CLDN16 | c.112G>T (p.Glu38Ter) c.322G>T (p.Glu108Ter) n.306+13838G>T | |
| 3 | g.190388442A>C | CA355762848 | CLDN16 | c.113A>C (p.Glu38Ala) c.323A>C (p.Glu108Ala) n.306+13839A>C | |
| 3 | g.190388442A>G | CA355762850 | CLDN16 | c.113A>G (p.Glu38Gly) c.323A>G (p.Glu108Gly) n.306+13839A>G | |
| 3 | g.190388442A>T | CA355762852 | CLDN16 | c.113A>T (p.Glu38Val) c.323A>T (p.Glu108Val) n.306+13839A>T | |
| 3 | g.190388443G>A | CA437637364 | CLDN16 | c.114G>A (p.Glu38=) c.324G>A (p.Glu108=) n.306+13840G>A | |
| 3 | g.190388443G>C | CA355762854 | CLDN16 | c.114G>C (p.Glu38Asp) c.324G>C (p.Glu108Asp) n.306+13840G>C | |
| 3 | g.190388443G>T | CA355762856 | CLDN16 | c.114G>T (p.Glu38Asp) c.324G>T (p.Glu108Asp) n.306+13840G>T | |
| 3 | g.190388444G>A | CA355762860 | CLDN16 | c.114+1G>A (n.114+1G>A) c.324+1G>A (n.324+1G>A) n.306+13841G>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.190388444G>C | CA355762862 | CLDN16 | c.114+1G>C (n.114+1G>C) c.324+1G>C (n.324+1G>C) n.306+13841G>C | |
| 3 | g.190388444G= | CA1428776128 | CLDN16 | c.114+1G= (n.114+1G=) c.324+1G= (n.324+1G=) n.306+13841G= | |
| 3 | g.190388444G>T | CA355762858 | CLDN16 | c.114+1G>T (n.114+1G>T) c.324+1G>T (n.324+1G>T) n.306+13841G>T | |
| 3 | g.190388445T>A | CA355762864 | CLDN16 | c.114+2T>A (n.114+2T>A) c.324+2T>A (n.324+2T>A) n.306+13842T>A | gnomAD v4 |
| 3 | g.190388445T>C | CA355762866 | CLDN16 | c.114+2T>C (n.114+2T>C) c.324+2T>C (n.324+2T>C) n.306+13842T>C | gnomAD v4 |
| 3 | g.190388445T>G | CA355762867 | CLDN16 | c.114+2T>G (n.114+2T>G) c.324+2T>G (n.324+2T>G) n.306+13842T>G | dbSNP |
| 3 | g.190388445T= | CA1428776131 | CLDN16 | c.114+2T= (n.114+2T=) c.324+2T= (n.324+2T=) n.306+13842T= | |
| 3 | g.190388445dup | CA2669054146 | CLDN16 | c.114+2dup (n.114+2dup) c.324+2dup (n.324+2dup) n.306+13842dup | gnomAD v4 |
| 3 | g.190388445_190388448delinsTAAG | CA1428776132 | CLDN16 | c.114+2_114+5delinsTAAG (n.114+2_114+5delinsTAAG) c.324+2_324+5delinsTAAG (n.324+2_324+5delinsTAAG) n.306+13842_306+13845delinsTAAG | |
| 3 | g.190388450_190388452del | CA548798475 | CLDN16 | c.114+7_114+9del (n.114+7_114+9del) c.324+7_324+9del (n.324+7_324+9del) n.306+13847_306+13849del | ClinVar dbSNP gnomAD v2 |
| 3 | g.190388446_190388447insT | CA2586973539 | CLDN16 | c.114+3_114+4insT (n.114+3_114+4insT) c.324+3_324+4insT (n.324+3_324+4insT) n.306+13843_306+13844insT | |
| 3 | g.190388447A= | CA1428776136 | CLDN16 | c.114+4A= (n.114+4A=) c.324+4A= (n.324+4A=) n.306+13844A= | |
| 3 | g.190388447A>G | CA1428776135 | CLDN16 | c.114+4A>G (n.114+4A>G) c.324+4A>G (n.324+4A>G) n.306+13844A>G | dbSNP |
| 3 | g.190388448G>A | CA2669054147 | CLDN16 | c.114+5G>A (n.114+5G>A) c.324+5G>A (n.324+5G>A) n.306+13845G>A | gnomAD v4 |
| 3 | g.190388448G= | CA1428776139 | CLDN16 | c.114+5G= (n.114+5G=) c.324+5G= (n.324+5G=) n.306+13845G= | |
| 3 | g.190388448G>T | CA548798476 | CLDN16 | c.114+5G>T (n.114+5G>T) c.324+5G>T (n.324+5G>T) n.306+13845G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |