| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.120810512A= | CA1738860662 | TSPAN12 | c.419T= (p.Leu140=) c.398T= (n.398T=) c.344T= (p.Leu115=) | |
| 7 | g.120810512A>C | CA369137461 | TSPAN12 | c.419T>G (p.Leu140Ter) c.398T>G (n.398T>G) c.344T>G (p.Leu115Ter) | |
| 7 | g.120810512A>G | CA369137462 | TSPAN12 | c.419T>C (p.Leu140Ser) c.398T>C (n.398T>C) c.344T>C (p.Leu115Ser) | |
| 7 | g.120810512A>T | CA251423 | TSPAN12 | c.419T>A (p.Leu140Ter) c.398T>A (n.398T>A) c.344T>A (p.Leu115Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.120810513A>C | CA369137463 | TSPAN12 | c.418T>G (p.Leu140Val) c.397T>G (n.397T>G) c.343T>G (p.Leu115Val) | |
| 7 | g.120810513A>G | CA457395404 | TSPAN12 | c.418T>C (p.Leu140=) c.397T>C (n.397T>C) c.343T>C (p.Leu115=) | |
| 7 | g.120810513A>T | CA369137464 | TSPAN12 | c.418T>A (p.Leu140Ile) c.397T>A (n.397T>A) c.343T>A (p.Leu115Ile) | |
| 7 | g.120810514T>A | CA457395407 | TSPAN12 | c.417A>T (p.Gly139=) c.396A>T (n.396A>T) c.342A>T (p.Gly114=) | gnomAD v4 |
| 7 | g.120810514T>C | CA457395409 | TSPAN12 | c.417A>G (p.Gly139=) c.396A>G (n.396A>G) c.342A>G (p.Gly114=) | |
| 7 | g.120810514T>G | CA457395412 | TSPAN12 | c.417A>C (p.Gly139=) c.396A>C (n.396A>C) c.342A>C (p.Gly114=) | |
| 7 | g.120810515C>A | CA369137465 | TSPAN12 | c.416G>T (p.Gly139Val) c.395G>T (n.395G>T) c.341G>T (p.Gly114Val) | gnomAD v4 |
| 7 | g.120810515C>G | CA369137466 | TSPAN12 | c.416G>C (p.Gly139Ala) c.395G>C (n.395G>C) c.341G>C (p.Gly114Ala) | |
| 7 | g.120810515C>T | CA369137467 | TSPAN12 | c.416G>A (p.Gly139Glu) c.395G>A (n.395G>A) c.341G>A (p.Gly114Glu) | |
| 7 | g.120810516C>A | CA369137468 | TSPAN12 | c.415G>T (p.Gly139Ter) c.394G>T (n.394G>T) c.340G>T (p.Gly114Ter) | |
| 7 | g.120810516C>G | CA369137469 | TSPAN12 | c.415G>C (p.Gly139Arg) c.394G>C (n.394G>C) c.340G>C (p.Gly114Arg) | |
| 7 | g.120810516C>T | CA369137470 | TSPAN12 | c.415G>A (p.Gly139Arg) c.394G>A (n.394G>A) c.340G>A (p.Gly114Arg) | |
| 7 | g.120810517A>C | CA369137471 | TSPAN12 | c.414T>G (p.Tyr138Ter) c.393T>G (n.393T>G) c.339T>G (p.Tyr113Ter) | |
| 7 | g.120810517A>G | CA457395427 | TSPAN12 | c.414T>C (p.Tyr138=) c.393T>C (n.393T>C) c.339T>C (p.Tyr113=) | |
| 7 | g.120810517A>T | CA369137472 | TSPAN12 | c.414T>A (p.Tyr138Ter) c.393T>A (n.393T>A) c.339T>A (p.Tyr113Ter) | |
| 7 | g.120810518T>A | CA369137474 | TSPAN12 | c.413A>T (p.Tyr138Phe) c.392A>T (n.392A>T) c.338A>T (p.Tyr113Phe) | |
| 7 | g.120810518T>C | CA269452 | TSPAN12 | c.413A>G (p.Tyr138Cys) c.392A>G (n.392A>G) c.338A>G (p.Tyr113Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.120810518T>G | CA369137473 | TSPAN12 | c.413A>C (p.Tyr138Ser) c.392A>C (n.392A>C) c.338A>C (p.Tyr113Ser) | |
| 7 | g.120810518T= | CA1738860670 | TSPAN12 | c.413A= (p.Tyr138=) c.392A= (n.392A=) c.338A= (p.Tyr113=) | |
| 7 | g.120810519A>C | CA369137475 | TSPAN12 | c.412T>G (p.Tyr138Asp) c.391T>G (n.391T>G) c.337T>G (p.Tyr113Asp) | |
| 7 | g.120810519A>G | CA369137476 | TSPAN12 | c.412T>C (p.Tyr138His) c.391T>C (n.391T>C) c.337T>C (p.Tyr113His) | |
| 7 | g.120810519A>T | CA369137477 | TSPAN12 | c.412T>A (p.Tyr138Asn) c.391T>A (n.391T>A) c.337T>A (p.Tyr113Asn) | |
| 7 | g.120810520A>C | CA369137478 | TSPAN12 | c.411T>G (p.Asn137Lys) c.390T>G (n.390T>G) c.336T>G (p.Asn112Lys) | |
| 7 | g.120810520A>G | CA457395443 | TSPAN12 | c.411T>C (p.Asn137=) c.390T>C (n.390T>C) c.336T>C (p.Asn112=) | gnomAD v4 |
| 7 | g.120810520A>T | CA369137479 | TSPAN12 | c.411T>A (p.Asn137Lys) c.390T>A (n.390T>A) c.336T>A (p.Asn112Lys) | |
| 7 | g.120810521T>A | CA369137480 | TSPAN12 | c.410A>T (p.Asn137Ile) c.389A>T (n.389A>T) c.335A>T (p.Asn112Ile) | |
| 7 | g.120810521T>C | CA369137481 | TSPAN12 | c.410A>G (p.Asn137Ser) c.389A>G (n.389A>G) c.335A>G (p.Asn112Ser) | |
| 7 | g.120810521T>G | CA369137482 | TSPAN12 | c.410A>C (p.Asn137Thr) c.389A>C (n.389A>C) c.335A>C (p.Asn112Thr) | |
| 7 | g.120810522T>A | CA369137483 | TSPAN12 | c.409A>T (p.Asn137Tyr) c.388A>T (n.388A>T) c.334A>T (p.Asn112Tyr) | |
| 7 | g.120810522T>C | CA165837052 | TSPAN12 | c.409A>G (p.Asn137Asp) c.388A>G (n.388A>G) c.334A>G (p.Asn112Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.120810522T>G | CA369137484 | TSPAN12 | c.409A>C (p.Asn137His) c.388A>C (n.388A>C) c.334A>C (p.Asn112His) | |
| 7 | g.120810522T= | CA1738860680 | TSPAN12 | c.409A= (p.Asn137=) c.388A= (n.388A=) c.334A= (p.Asn112=) | |
| 7 | g.120810523T>A | CA457395458 | TSPAN12 | c.408A>T (p.Thr136=) c.387A>T (n.387A>T) c.333A>T (p.Thr111=) | |
| 7 | g.120810523T>C | CA457395460 | TSPAN12 | c.408A>G (p.Thr136=) c.387A>G (n.387A>G) c.333A>G (p.Thr111=) | |
| 7 | g.120810523T>G | CA457395475 | TSPAN12 | c.408A>C (p.Thr136=) c.387A>C (n.387A>C) c.333A>C (p.Thr111=) | |
| 7 | g.120810524G>A | CA369137485 | TSPAN12 | c.407C>T (p.Thr136Ile) c.386C>T (n.386C>T) c.332C>T (p.Thr111Ile) | dbSNP |
| 7 | g.120810524G>C | CA369137486 | TSPAN12 | c.407C>G (p.Thr136Arg) c.386C>G (n.386C>G) c.332C>G (p.Thr111Arg) | |
| 7 | g.120810524G= | CA1738860686 | TSPAN12 | c.407C= (p.Thr136=) c.386C= (n.386C=) c.332C= (p.Thr111=) | |
| 7 | g.120810524G>T | CA369137487 | TSPAN12 | c.407C>A (p.Thr136Lys) c.386C>A (n.386C>A) c.332C>A (p.Thr111Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.120810525T>A | CA369137489 | TSPAN12 | c.406A>T (p.Thr136Ser) c.385A>T (n.385A>T) c.331A>T (p.Thr111Ser) | |
| 7 | g.120810525T>C | CA369137490 | TSPAN12 | c.406A>G (p.Thr136Ala) c.385A>G (n.385A>G) c.331A>G (p.Thr111Ala) | |
| 7 | g.120810525T>G | CA369137488 | TSPAN12 | c.406A>C (p.Thr136Pro) c.385A>C (n.385A>C) c.331A>C (p.Thr111Pro) | |
| 7 | g.120810526C>A | CA369137491 | TSPAN12 | c.405G>T (p.Met135Ile) c.384G>T (n.384G>T) c.330G>T (p.Met110Ile) | |
| 7 | g.120810526C>G | CA369137492 | TSPAN12 | c.405G>C (p.Met135Ile) c.384G>C (n.384G>C) c.330G>C (p.Met110Ile) | |
| 7 | g.120810526C>T | CA369137495 | TSPAN12 | c.405G>A (p.Met135Ile) c.384G>A (n.384G>A) c.330G>A (p.Met110Ile) | gnomAD v4 |
| 7 | g.120810527A>C | CA369137497 | TSPAN12 | c.404T>G (p.Met135Arg) c.383T>G (n.383T>G) c.329T>G (p.Met110Arg) |