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 |
|---|---|---|---|---|---|
| 11 | g.13492489A= | CA1953324086 | PTH | c.264T= (p.Asn88=) c.360T= (p.Asn120=) | |
| 11 | g.13492489A>C | CA379724492 | PTH | c.264T>G (p.Asn88Lys) c.360T>G (p.Asn120Lys) | gnomAD v4 |
| 11 | g.13492489A>G | CA473263472 | PTH | c.264T>C (p.Asn88=) c.360T>C (p.Asn120=) | dbSNP |
| 11 | g.13492489A>T | CA379724493 | PTH | c.264T>A (p.Asn88Lys) c.360T>A (p.Asn120Lys) | |
| 11 | g.13492490T>A | CA379724494 | PTH | c.263A>T (p.Asn88Ile) c.359A>T (p.Asn120Ile) | dbSNP |
| 11 | g.13492490T>C | CA379724495 | PTH | c.263A>G (p.Asn88Ser) c.359A>G (p.Asn120Ser) | |
| 11 | g.13492490T>G | CA379724496 | PTH | c.263A>C (p.Asn88Thr) c.359A>C (p.Asn120Thr) | |
| 11 | g.13492490T= | CA1953324089 | PTH | c.263A= (p.Asn88=) c.359A= (p.Asn120=) | |
| 11 | g.13492491T>A | CA379724499 | PTH | c.262A>T (p.Asn88Tyr) c.358A>T (p.Asn120Tyr) | |
| 11 | g.13492491T>C | CA379724498 | PTH | c.262A>G (p.Asn88Asp) c.358A>G (p.Asn120Asp) | |
| 11 | g.13492491T>G | CA379724497 | PTH | c.262A>C (p.Asn88His) c.358A>C (p.Asn120His) | |
| 11 | g.13492492G>A | CA473263473 | PTH | c.261C>T (p.Asp87=) c.357C>T (p.Asp119=) | |
| 11 | g.13492492G>C | CA379724500 | PTH | c.261C>G (p.Asp87Glu) c.357C>G (p.Asp119Glu) | |
| 11 | g.13492492G>T | CA379724501 | PTH | c.261C>A (p.Asp87Glu) c.357C>A (p.Asp119Glu) | |
| 11 | g.13492493T>A | CA379724502 | PTH | c.260A>T (p.Asp87Val) c.356A>T (p.Asp119Val) | |
| 11 | g.13492493T>C | CA379724503 | PTH | c.260A>G (p.Asp87Gly) c.356A>G (p.Asp119Gly) | |
| 11 | g.13492493T>G | CA379724504 | PTH | c.260A>C (p.Asp87Ala) c.356A>C (p.Asp119Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.13492493T= | CA1953324096 | PTH | c.260A= (p.Asp87=) c.356A= (p.Asp119=) | |
| 11 | g.13492494C>A | CA379724505 | PTH | c.259G>T (p.Asp87Tyr) c.355G>T (p.Asp119Tyr) | dbSNP |
| 11 | g.13492494C>G | CA379724506 | PTH | c.259G>C (p.Asp87His) c.355G>C (p.Asp119His) | |
| 11 | g.13492494C>T | CA379724507 | PTH | c.259G>A (p.Asp87Asn) c.355G>A (p.Asp119Asn) | |
| 11 | g.13492495T>A | CA379724508 | PTH | c.258A>T (p.Glu86Asp) c.354A>T (p.Glu118Asp) | |
| 11 | g.13492495T>C | CA473263474 | PTH | c.258A>G (p.Glu86=) c.354A>G (p.Glu118=) | |
| 11 | g.13492495T>G | CA379724509 | PTH | c.258A>C (p.Glu86Asp) c.354A>C (p.Glu118Asp) | |
| 11 | g.13492496T>A | CA379724510 | PTH | c.257A>T (p.Glu86Val) c.353A>T (p.Glu118Val) | |
| 11 | g.13492496T>C | CA379724511 | PTH | c.257A>G (p.Glu86Gly) c.353A>G (p.Glu118Gly) | |
| 11 | g.13492496T>G | CA379724512 | PTH | c.257A>C (p.Glu86Ala) c.353A>C (p.Glu118Ala) | |
| 11 | g.13492497C>A | CA379724514 | PTH | c.256G>T (p.Glu86Ter) c.352G>T (p.Glu118Ter) | |
| 11 | g.13492497C= | CA1953324100 | PTH | c.256G= (p.Glu86=) c.352G= (p.Glu118=) | |
| 11 | g.13492497C>G | CA379724515 | PTH | c.256G>C (p.Glu86Gln) c.352G>C (p.Glu118Gln) | |
| 11 | g.13492497C>T | CA379724513 | PTH | c.256G>A (p.Glu86Lys) c.352G>A (p.Glu118Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.13492498C>A | CA379724516 | PTH | c.255G>T (p.Lys85Asn) c.351G>T (p.Lys117Asn) | |
| 11 | g.13492498C= | CA1953324103 | PTH | c.255G= (p.Lys85=) c.351G= (p.Lys117=) | |
| 11 | g.13492498C>G | CA379724517 | PTH | c.255G>C (p.Lys85Asn) c.351G>C (p.Lys117Asn) | |
| 11 | g.13492498C>T | CA5893167 | PTH | c.255G>A (p.Lys85=) c.351G>A (p.Lys117=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13492499T>A | CA379724518 | PTH | c.254A>T (p.Lys85Met) c.350A>T (p.Lys117Met) | |
| 11 | g.13492499T>C | CA379724519 | PTH | c.254A>G (p.Lys85Arg) c.350A>G (p.Lys117Arg) | gnomAD v4 |
| 11 | g.13492499T>G | CA379724520 | PTH | c.254A>C (p.Lys85Thr) c.350A>C (p.Lys117Thr) | dbSNP |
| 11 | g.13492499T= | CA1953324108 | PTH | c.254A= (p.Lys85=) c.350A= (p.Lys117=) | |
| 11 | g.13492500T>A | CA379724521 | PTH | c.253A>T (p.Lys85Ter) c.349A>T (p.Lys117Ter) | dbSNP |
| 11 | g.13492500T>C | CA379724522 | PTH | c.253A>G (p.Lys85Glu) c.349A>G (p.Lys117Glu) | |
| 11 | g.13492500T>G | CA379724523 | PTH | c.253A>C (p.Lys85Gln) c.349A>C (p.Lys117Gln) | |
| 11 | g.13492500T= | CA1953324110 | PTH | c.253A= (p.Lys85=) c.349A= (p.Lys117=) | |
| 11 | g.13492501T>A | CA379724524 | PTH | c.252A>T (p.Lys84Asn) c.348A>T (p.Lys116Asn) | |
| 11 | g.13492501T>C | CA473263475 | PTH | c.252A>G (p.Lys84=) c.348A>G (p.Lys116=) | |
| 11 | g.13492501T>G | CA379724525 | PTH | c.252A>C (p.Lys84Asn) c.348A>C (p.Lys116Asn) | |
| 11 | g.13492502T>A | CA379724527 | PTH | c.251A>T (p.Lys84Ile) c.347A>T (p.Lys116Ile) | COSMIC |
| 11 | g.13492502T>C | CA217889431 | PTH | c.251A>G (p.Lys84Arg) c.347A>G (p.Lys116Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.13492502T>G | CA379724526 | PTH | c.251A>C (p.Lys84Thr) c.347A>C (p.Lys116Thr) | |
| 11 | g.13492502T= | CA1953324114 | PTH | c.251A= (p.Lys84=) c.347A= (p.Lys116=) | |
| 11 | g.13492503T>A | CA379724528 | PTH | c.250A>T (p.Lys84Ter) c.346A>T (p.Lys116Ter) | dbSNP |
| 11 | g.13492503T>C | CA379724529 | PTH | c.250A>G (p.Lys84Glu) c.346A>G (p.Lys116Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13492503T>G | CA379724530 | PTH | c.250A>C (p.Lys84Gln) c.346A>C (p.Lys116Gln) | |
| 11 | g.13492503T= | CA1953324120 | PTH | c.250A= (p.Lys84=) c.346A= (p.Lys116=) | |
| 11 | g.13492504T>A | CA473263478 | PTH | c.249A>T (p.Arg83=) c.345A>T (p.Arg115=) | |
| 11 | g.13492504T>C | CA473263476 | PTH | c.249A>G (p.Arg83=) c.345A>G (p.Arg115=) | gnomAD v4 |
| 11 | g.13492504T>G | CA473263477 | PTH | c.249A>C (p.Arg83=) c.345A>C (p.Arg115=) | |
| 11 | g.13492505C>A | CA379724531 | PTH | c.248G>T (p.Arg83Leu) c.344G>T (p.Arg115Leu) | |
| 11 | g.13492505C= | CA1953324125 | PTH | c.248G= (p.Arg83=) c.344G= (p.Arg115=) | |
| 11 | g.13492505C>G | CA379724532 | PTH | c.248G>C (p.Arg83Pro) c.344G>C (p.Arg115Pro) | |
| 11 | g.13492505C>T | CA5893168 | PTH | c.248G>A (p.Arg83Gln) c.344G>A (p.Arg115Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13492506_13492511del | CA2612561040 | PTH | c.243_248del (p.Pro82_Arg83del) c.339_344del (p.Pro114_Arg115del) | gnomAD v4 |
| 11 | g.13492506G>A | CA123438 | PTH | c.247C>T (p.Arg83Ter) c.343C>T (p.Arg115Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.13492506G>C | CA379724533 | PTH | c.247C>G (p.Arg83Gly) c.343C>G (p.Arg115Gly) | |
| 11 | g.13492506G= | CA1953324135 | PTH | c.247C= (p.Arg83=) c.343C= (p.Arg115=) | |
| 11 | g.13492506G>T | CA5893169 | PTH | c.247C>A (p.Arg83=) c.343C>A (p.Arg115=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13492509_13492517del | CA2612561041 | PTH | c.239_247del (p.Gln80_Pro82del) c.335_343del (p.Gln112_Pro114del) | gnomAD v4 |
| 11 | g.13492507G>A | CA473263479 | PTH | c.246C>T (p.Pro82=) c.342C>T (p.Pro114=) | |
| 11 | g.13492507G>C | CA473263480 | PTH | c.246C>G (p.Pro82=) c.342C>G (p.Pro114=) | |
| 11 | g.13492507G>T | CA473263481 | PTH | c.246C>A (p.Pro82=) c.342C>A (p.Pro114=) | |
| 11 | g.13492508G>A | CA5893170 | PTH | c.245C>T (p.Pro82Leu) c.341C>T (p.Pro114Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13492508G>C | CA379724534 | PTH | c.245C>G (p.Pro82Arg) c.341C>G (p.Pro114Arg) | |
| 11 | g.13492508G= | CA1953324148 | PTH | c.245C= (p.Pro82=) c.341C= (p.Pro114=) | |
| 11 | g.13492508G>T | CA379724535 | PTH | c.245C>A (p.Pro82His) c.341C>A (p.Pro114His) | |
| 11 | g.13492509G>A | CA379724538 | PTH | c.244C>T (p.Pro82Ser) c.340C>T (p.Pro114Ser) | COSMIC |
| 11 | g.13492509G>C | CA379724537 | PTH | c.244C>G (p.Pro82Ala) c.340C>G (p.Pro114Ala) | |
| 11 | g.13492509G>T | CA379724536 | PTH | c.244C>A (p.Pro82Thr) c.340C>A (p.Pro114Thr) | |
| 11 | g.13492510C>A | CA379724539 | PTH | c.243G>T (p.Arg81Ser) c.339G>T (p.Arg113Ser) | gnomAD v4 |
| 11 | g.13492510C>G | CA379724540 | PTH | c.243G>C (p.Arg81Ser) c.339G>C (p.Arg113Ser) | |
| 11 | g.13492510C>T | CA473263482 | PTH | c.243G>A (p.Arg81=) c.339G>A (p.Arg113=) | gnomAD v4 |
| 11 | g.13492511C>A | CA379724541 | PTH | c.242G>T (p.Arg81Met) c.338G>T (p.Arg113Met) | |
| 11 | g.13492511C= | CA1953324156 | PTH | c.242G= (p.Arg81=) c.338G= (p.Arg113=) | |
| 11 | g.13492511C>G | CA379724542 | PTH | c.242G>C (p.Arg81Thr) c.338G>C (p.Arg113Thr) | |
| 11 | g.13492511C>T | CA217889450 | PTH | c.242G>A (p.Arg81Lys) c.338G>A (p.Arg113Lys) | dbSNP gnomAD v4 |
| 11 | g.13492512T>A | CA379724543 | PTH | c.241A>T (p.Arg81Trp) c.337A>T (p.Arg113Trp) | |
| 11 | g.13492512T>C | CA379724544 | PTH | c.241A>G (p.Arg81Gly) c.337A>G (p.Arg113Gly) | |
| 11 | g.13492512T>G | CA473263483 | PTH | c.241A>C (p.Arg81=) c.337A>C (p.Arg113=) | |
| 11 | g.13492512_13492513insTTTTTT | CA2790494661 | PTH | c.241_242insAAAAAA (p.Gln80_Arg81insLysLys) c.337_338insAAAAAA (p.Gln112_Arg113insLysLys) | |
| 11 | g.13492512_13492513insTTTTTTT | CA935309344 | PTH | c.241_242insAAAAAAA (p.Arg81LysfsTer14) c.337_338insAAAAAAA (p.Arg113LysfsTer14) | gnomAD v3 gnomAD v4 |
| 11 | g.13492513C>A | CA379724546 | PTH | c.240G>T (p.Gln80His) c.336G>T (p.Gln112His) | |
| 11 | g.13492513C>G | CA379724545 | PTH | c.240G>C (p.Gln80His) c.336G>C (p.Gln112His) | |
| 11 | g.13492513C>T | CA473263484 | PTH | c.240G>A (p.Gln80=) c.336G>A (p.Gln112=) | |
| 11 | g.13492514T>A | CA379724547 | PTH | c.239A>T (p.Gln80Leu) c.335A>T (p.Gln112Leu) | |
| 11 | g.13492514T>C | CA379724548 | PTH | c.239A>G (p.Gln80Arg) c.335A>G (p.Gln112Arg) | |
| 11 | g.13492514T>G | CA379724549 | PTH | c.239A>C (p.Gln80Pro) c.335A>C (p.Gln112Pro) | |
| 11 | g.13492514T= | CA1953324160 | PTH | c.239A= (p.Gln80=) c.335A= (p.Gln112=) | |
| 11 | g.13492515G>A | CA217889468 | PTH | c.238C>T (p.Gln80Ter) c.334C>T (p.Gln112Ter) | dbSNP |
| 11 | g.13492515G>C | CA379724550 | PTH | c.238C>G (p.Gln80Glu) c.334C>G (p.Gln112Glu) | |
| 11 | g.13492515G= | CA1953324165 | PTH | c.238C= (p.Gln80=) c.334C= (p.Gln112=) | |
| 11 | g.13492515G>T | CA379724551 | PTH | c.238C>A (p.Gln80Lys) c.334C>A (p.Gln112Lys) | |
| 11 | g.13492517dup | CA217889466 | PTH | c.238dup (p.Gln80ProfsTer13) c.334dup (p.Gln112ProfsTer13) | dbSNP |
| 11 | g.13492516G>A | CA473263485 | PTH | c.237C>T (p.Ser79=) c.333C>T (p.Ser111=) | gnomAD v4 |
| 11 | g.13492516G>C | CA473263486 | PTH | c.237C>G (p.Ser79=) c.333C>G (p.Ser111=) | |
| 11 | g.13492516G>T | CA473263487 | PTH | c.237C>A (p.Ser79=) c.333C>A (p.Ser111=) | |
| 11 | g.13492517G>A | CA379724552 | PTH | c.236C>T (p.Ser79Phe) c.332C>T (p.Ser111Phe) | |
| 11 | g.13492517G>C | CA379724554 | PTH | c.236C>G (p.Ser79Cys) c.332C>G (p.Ser111Cys) | |
| 11 | g.13492517G>T | CA379724553 | PTH | c.236C>A (p.Ser79Tyr) c.332C>A (p.Ser111Tyr) | |
| 11 | g.13492518A>C | CA379724555 | PTH | c.235T>G (p.Ser79Ala) c.331T>G (p.Ser111Ala) | |
| 11 | g.13492518A>G | CA379724556 | PTH | c.235T>C (p.Ser79Pro) c.331T>C (p.Ser111Pro) | |
| 11 | g.13492518A>T | CA379724557 | PTH | c.235T>A (p.Ser79Thr) c.331T>A (p.Ser111Thr) | |
| 11 | g.13492519A= | CA1953324170 | PTH | c.234T= (p.Gly78=) c.330T= (p.Gly110=) | |
| 11 | g.13492519A>C | CA473263488 | PTH | c.234T>G (p.Gly78=) c.330T>G (p.Gly110=) | |
| 11 | g.13492519A>G | CA473263489 | PTH | c.234T>C (p.Gly78=) c.330T>C (p.Gly110=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.13492519A>T | CA473263490 | PTH | c.234T>A (p.Gly78=) c.330T>A (p.Gly110=) | |
| 11 | g.13492520C>A | CA379724558 | PTH | c.233G>T (p.Gly78Val) c.329G>T (p.Gly110Val) | |
| 11 | g.13492520C>G | CA379724559 | PTH | c.233G>C (p.Gly78Ala) c.329G>C (p.Gly110Ala) | gnomAD v4 |
| 11 | g.13492520C>T | CA379724560 | PTH | c.233G>A (p.Gly78Asp) c.329G>A (p.Gly110Asp) | |
| 11 | g.13492521C>A | CA379724561 | PTH | c.232G>T (p.Gly78Cys) c.328G>T (p.Gly110Cys) | |
| 11 | g.13492521C= | CA1953324173 | PTH | c.232G= (p.Gly78=) c.328G= (p.Gly110=) | |
| 11 | g.13492521C>G | CA379724562 | PTH | c.232G>C (p.Gly78Arg) c.328G>C (p.Gly110Arg) | |
| 11 | g.13492521C>T | CA5893171 | PTH | c.232G>A (p.Gly78Ser) c.328G>A (p.Gly110Ser) | dbSNP ExAC gnomAD v2 |
| 11 | g.13492522A>C | CA473263491 | PTH | c.231T>G (p.Ala77=) c.327T>G (p.Ala109=) | |
| 11 | g.13492522A>G | CA473263492 | PTH | c.231T>C (p.Ala77=) c.327T>C (p.Ala109=) | |
| 11 | g.13492522A>T | CA473263493 | PTH | c.231T>A (p.Ala77=) c.327T>A (p.Ala109=) | |
| 11 | g.13492523G>A | CA379724563 | PTH | c.230C>T (p.Ala77Val) c.326C>T (p.Ala109Val) | gnomAD v4 COSMIC |
| 11 | g.13492523G>C | CA379724564 | PTH | c.230C>G (p.Ala77Gly) c.326C>G (p.Ala109Gly) | |
| 11 | g.13492523G= | CA1953324177 | PTH | c.230C= (p.Ala77=) c.326C= (p.Ala109=) | |
| 11 | g.13492523G>T | CA5893172 | PTH | c.230C>A (p.Ala77Asp) c.326C>A (p.Ala109Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13492524C>A | CA379724565 | PTH | c.229G>T (p.Ala77Ser) c.325G>T (p.Ala109Ser) | |
| 11 | g.13492524C= | CA1953324184 | PTH | c.229G= (p.Ala77=) c.325G= (p.Ala109=) | |
| 11 | g.13492524C>G | CA379724567 | PTH | c.229G>C (p.Ala77Pro) c.325G>C (p.Ala109Pro) | |
| 11 | g.13492524C>T | CA379724566 | PTH | c.229G>A (p.Ala77Thr) c.325G>A (p.Ala109Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.13492525A= | CA1953324188 | PTH | c.228T= (p.Asp76=) c.324T= (p.Asp108=) | |
| 11 | g.13492525A>C | CA379724568 | PTH | c.228T>G (p.Asp76Glu) c.324T>G (p.Asp108Glu) | |
| 11 | g.13492525A>G | CA217889481 | PTH | c.228T>C (p.Asp76=) c.324T>C (p.Asp108=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.13492525A>T | CA379724569 | PTH | c.228T>A (p.Asp76Glu) c.324T>A (p.Asp108Glu) | |
| 11 | g.13492526T>A | CA379724570 | PTH | c.227A>T (p.Asp76Val) c.323A>T (p.Asp108Val) | |
| 11 | g.13492526T>C | CA379724571 | PTH | c.227A>G (p.Asp76Gly) c.323A>G (p.Asp108Gly) | |
| 11 | g.13492526T>G | CA379724572 | PTH | c.227A>C (p.Asp76Ala) c.323A>C (p.Asp108Ala) | |
| 11 | g.13492527C>A | CA379724573 | PTH | c.226G>T (p.Asp76Tyr) c.322G>T (p.Asp108Tyr) | |
| 11 | g.13492527C>G | CA379724574 | PTH | c.226G>C (p.Asp76His) c.322G>C (p.Asp108His) | gnomAD v4 |
| 11 | g.13492527C>T | CA379724575 | PTH | c.226G>A (p.Asp76Asn) c.322G>A (p.Asp108Asn) | |
| 11 | g.13492528T>A | CA379724576 | PTH | c.225A>T (p.Arg75Ser) c.321A>T (p.Arg107Ser) | |
| 11 | g.13492528T>C | CA473263494 | PTH | c.225A>G (p.Arg75=) c.321A>G (p.Arg107=) | |
| 11 | g.13492528T>G | CA379724577 | PTH | c.225A>C (p.Arg75Ser) c.321A>C (p.Arg107Ser) | |
| 11 | g.13492529C>A | CA379724578 | PTH | c.224G>T (p.Arg75Ile) c.320G>T (p.Arg107Ile) | COSMIC |
| 11 | g.13492529C>G | CA379724579 | PTH | c.224G>C (p.Arg75Thr) c.320G>C (p.Arg107Thr) | |
| 11 | g.13492529C>T | CA379724580 | PTH | c.224G>A (p.Arg75Lys) c.320G>A (p.Arg107Lys) | |
| 11 | g.13492530T>A | CA379724581 | PTH | c.223A>T (p.Arg75Ter) c.319A>T (p.Arg107Ter) | |
| 11 | g.13492530T>C | CA379724582 | PTH | c.223A>G (p.Arg75Gly) c.319A>G (p.Arg107Gly) | |
| 11 | g.13492530T>G | CA473263495 | PTH | c.223A>C (p.Arg75=) c.319A>C (p.Arg107=) | |
| 11 | g.13492531G>A | CA473263497 | PTH | c.222C>T (p.Pro74=) c.318C>T (p.Pro106=) | |
| 11 | g.13492531G>C | CA473263496 | PTH | c.222C>G (p.Pro74=) c.318C>G (p.Pro106=) | |
| 11 | g.13492531G>T | CA473263498 | PTH | c.222C>A (p.Pro74=) c.318C>A (p.Pro106=) | |
| 11 | g.13492532G>A | CA379724583 | PTH | c.221C>T (p.Pro74Leu) c.317C>T (p.Pro106Leu) | dbSNP |
| 11 | g.13492532G>C | CA379724584 | PTH | c.221C>G (p.Pro74Arg) c.317C>G (p.Pro106Arg) | gnomAD v4 |
| 11 | g.13492532G= | CA1953324192 | PTH | c.221C= (p.Pro74=) c.317C= (p.Pro106=) | |
| 11 | g.13492532G>T | CA379724585 | PTH | c.221C>A (p.Pro74His) c.317C>A (p.Pro106His) | |
| 11 | g.13492533G>A | CA379724586 | PTH | c.220C>T (p.Pro74Ser) c.316C>T (p.Pro106Ser) | |
| 11 | g.13492533G>C | CA379724587 | PTH | c.220C>G (p.Pro74Ala) c.316C>G (p.Pro106Ala) | |
| 11 | g.13492533G>T | CA379724588 | PTH | c.220C>A (p.Pro74Thr) c.316C>A (p.Pro106Thr) | |
| 11 | g.13492534A>C | CA473263499 | PTH | c.219T>G (p.Ala73=) c.315T>G (p.Ala105=) | |
| 11 | g.13492534A>G | CA473263500 | PTH | c.219T>C (p.Ala73=) c.315T>C (p.Ala105=) | |
| 11 | g.13492534A>T | CA473263501 | PTH | c.219T>A (p.Ala73=) c.315T>A (p.Ala105=) | |
| 11 | g.13492535G>A | CA379724589 | PTH | c.218C>T (p.Ala73Val) c.314C>T (p.Ala105Val) | |
| 11 | g.13492535G>C | CA379724590 | PTH | c.218C>G (p.Ala73Gly) c.314C>G (p.Ala105Gly) | |
| 11 | g.13492535G>T | CA379724591 | PTH | c.218C>A (p.Ala73Asp) c.314C>A (p.Ala105Asp) | |
| 11 | g.13492536C>A | CA379724592 | PTH | c.217G>T (p.Ala73Ser) c.313G>T (p.Ala105Ser) | |
| 11 | g.13492536C>G | CA379724593 | PTH | c.217G>C (p.Ala73Pro) c.313G>C (p.Ala105Pro) | |
| 11 | g.13492536C>T | CA379724594 | PTH | c.217G>A (p.Ala73Thr) c.313G>A (p.Ala105Thr) | |
| 11 | g.13492537T>A | CA473263502 | PTH | c.216A>T (p.Leu72=) c.312A>T (p.Leu104=) | |
| 11 | g.13492537T>C | CA473263504 | PTH | c.216A>G (p.Leu72=) c.312A>G (p.Leu104=) | |
| 11 | g.13492537T>G | CA473263503 | PTH | c.216A>C (p.Leu72=) c.312A>C (p.Leu104=) | |
| 11 | g.13492538A= | CA1953324196 | PTH | c.215T= (p.Leu72=) c.311T= (p.Leu104=) | |
| 11 | g.13492538A>C | CA379724596 | PTH | c.215T>G (p.Leu72Arg) c.311T>G (p.Leu104Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.13492538A>G | CA379724597 | PTH | c.215T>C (p.Leu72Pro) c.311T>C (p.Leu104Pro) | gnomAD v4 |
| 11 | g.13492538A>T | CA379724595 | PTH | c.215T>A (p.Leu72Gln) c.311T>A (p.Leu104Gln) | |
| 11 | g.13492539G>A | CA473263505 | PTH | c.214C>T (p.Leu72=) c.310C>T (p.Leu104=) | gnomAD v4 |
| 11 | g.13492539G>C | CA379724599 | PTH | c.214C>G (p.Leu72Val) c.310C>G (p.Leu104Val) | dbSNP |
| 11 | g.13492539G= | CA1953324200 | PTH | c.214C= (p.Leu72=) c.310C= (p.Leu104=) | |
| 11 | g.13492539G>T | CA379724598 | PTH | c.214C>A (p.Leu72Ile) c.310C>A (p.Leu104Ile) | COSMIC |
| 11 | g.13492540A>C | CA473263506 | PTH | c.213T>G (p.Pro71=) c.309T>G (p.Pro103=) | |
| 11 | g.13492540A>G | CA473263507 | PTH | c.213T>C (p.Pro71=) c.309T>C (p.Pro103=) | |
| 11 | g.13492540A>T | CA473263508 | PTH | c.213T>A (p.Pro71=) c.309T>A (p.Pro103=) | |
| 11 | g.13492541G>A | CA379724600 | PTH | c.212C>T (p.Pro71Leu) c.308C>T (p.Pro103Leu) | |
| 11 | g.13492541G>C | CA379724601 | PTH | c.212C>G (p.Pro71Arg) c.308C>G (p.Pro103Arg) | |
| 11 | g.13492541G>T | CA379724602 | PTH | c.212C>A (p.Pro71His) c.308C>A (p.Pro103His) | |
| 11 | g.13492542G>A | CA379724603 | PTH | c.211C>T (p.Pro71Ser) c.307C>T (p.Pro103Ser) | ClinVar gnomAD v4 |
| 11 | g.13492542G>C | CA379724604 | PTH | c.211C>G (p.Pro71Ala) c.307C>G (p.Pro103Ala) | gnomAD v4 |
| 11 | g.13492542G>T | CA379724605 | PTH | c.211C>A (p.Pro71Thr) c.307C>A (p.Pro103Thr) | |
| 11 | g.13492543A>C | CA473263509 | PTH | c.210T>G (p.Ala70=) c.306T>G (p.Ala102=) | |
| 11 | g.13492543A>G | CA473263510 | PTH | c.210T>C (p.Ala70=) c.306T>C (p.Ala102=) | gnomAD v4 |
| 11 | g.13492543A>T | CA473263511 | PTH | c.210T>A (p.Ala70=) c.306T>A (p.Ala102=) | |
| 11 | g.13492544G>A | CA379724606 | PTH | c.209C>T (p.Ala70Val) c.305C>T (p.Ala102Val) | |
| 11 | g.13492544G>C | CA379724607 | PTH | c.209C>G (p.Ala70Gly) c.305C>G (p.Ala102Gly) | |
| 11 | g.13492544G>T | CA379724608 | PTH | c.209C>A (p.Ala70Asp) c.305C>A (p.Ala102Asp) | |
| 11 | g.13492545C>A | CA379724609 | PTH | c.208G>T (p.Ala70Ser) c.304G>T (p.Ala102Ser) | |
| 11 | g.13492545C= | CA1953324205 | PTH | c.208G= (p.Ala70=) c.304G= (p.Ala102=) | |
| 11 | g.13492545C>G | CA379724610 | PTH | c.208G>C (p.Ala70Pro) c.304G>C (p.Ala102Pro) | |
| 11 | g.13492545C>T | CA217889488 | PTH | c.208G>A (p.Ala70Thr) c.304G>A (p.Ala102Thr) | dbSNP |
| 11 | g.13492546T>A | CA473263514 | PTH | c.207A>T (p.Gly69=) c.303A>T (p.Gly101=) | |
| 11 | g.13492546T>C | CA473263513 | PTH | c.207A>G (p.Gly69=) c.303A>G (p.Gly101=) | |
| 11 | g.13492546T>G | CA473263512 | PTH | c.207A>C (p.Gly69=) c.303A>C (p.Gly101=) | |
| 11 | g.13492547C>A | CA379724613 | PTH | c.206G>T (p.Gly69Val) c.302G>T (p.Gly101Val) | |
| 11 | g.13492547C>G | CA379724612 | PTH | c.206G>C (p.Gly69Ala) c.302G>C (p.Gly101Ala) | |
| 11 | g.13492547C>T | CA379724611 | PTH | c.206G>A (p.Gly69Glu) c.302G>A (p.Gly101Glu) | |
| 11 | g.13492548C>A | CA379724614 | PTH | c.205G>T (p.Gly69Ter) c.301G>T (p.Gly101Ter) | |
| 11 | g.13492548C= | CA1953324207 | PTH | c.205G= (p.Gly69=) c.301G= (p.Gly101=) | |
| 11 | g.13492548C>G | CA379724615 | PTH | c.205G>C (p.Gly69Arg) c.301G>C (p.Gly101Arg) | |
| 11 | g.13492548C>T | CA5893173 | PTH | c.205G>A (p.Gly69Arg) c.301G>A (p.Gly101Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13492549A= | CA1953324211 | PTH | c.204T= (p.Leu68=) c.300T= (p.Leu100=) | |
| 11 | g.13492549A>C | CA473263515 | PTH | c.204T>G (p.Leu68=) c.300T>G (p.Leu100=) | dbSNP gnomAD v4 |
| 11 | g.13492549A>G | CA473263516 | PTH | c.204T>C (p.Leu68=) c.300T>C (p.Leu100=) | |
| 11 | g.13492549A>T | CA473263517 | PTH | c.204T>A (p.Leu68=) c.300T>A (p.Leu100=) | |
| 11 | g.13492550A= | CA1953324216 | PTH | c.203T= (p.Leu68=) c.299T= (p.Leu100=) | |
| 11 | g.13492550A>C | CA5893174 | PTH | c.203T>G (p.Leu68Arg) c.299T>G (p.Leu100Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13492550A>G | CA217889532 | PTH | c.203T>C (p.Leu68Pro) c.299T>C (p.Leu100Pro) | dbSNP gnomAD v4 |
| 11 | g.13492550A>T | CA379724616 | PTH | c.203T>A (p.Leu68His) c.299T>A (p.Leu100His) | |
| 11 | g.13492550_13492551delinsAG | CA1953324221 | PTH | c.202_203delinsCT (p.Leu68=) c.298_299delinsCT (p.Leu100=) | |
| 11 | g.13492551G>A | CA5893176 | PTH | c.202C>T (p.Leu68Phe) c.298C>T (p.Leu100Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13492551G>C | CA379724617 | PTH | c.202C>G (p.Leu68Val) c.298C>G (p.Leu100Val) | |
| 11 | g.13492551G= | CA1953324230 | PTH | c.202C= (p.Leu68=) c.298C= (p.Leu100=) | |
| 11 | g.13492551G>T | CA379724618 | PTH | c.202C>A (p.Leu68Ile) c.298C>A (p.Leu100Ile) | gnomAD v4 |
| 11 | g.13492553del | CA5893175 | PTH | c.202del (p.Gly69GlufsTer4) c.298del (p.Gly101GlufsTer4) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.13492552G>A | CA5893177 | PTH | c.201C>T (p.Ala67=) c.297C>T (p.Ala99=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13492552G>C | CA473263518 | PTH | c.201C>G (p.Ala67=) c.297C>G (p.Ala99=) | gnomAD v4 |
| 11 | g.13492552G= | CA1953324242 | PTH | c.201C= (p.Ala67=) c.297C= (p.Ala99=) | |
| 11 | g.13492552G>T | CA473263519 | PTH | c.201C>A (p.Ala67=) c.297C>A (p.Ala99=) | |
| 11 | g.13492553G>A | CA379724619 | PTH | c.200C>T (p.Ala67Val) c.296C>T (p.Ala99Val) | |
| 11 | g.13492553G>C | CA379724620 | PTH | c.200C>G (p.Ala67Gly) c.296C>G (p.Ala99Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.13492553G= | CA1953324246 | PTH | c.200C= (p.Ala67=) c.296C= (p.Ala99=) | |
| 11 | g.13492553G>T | CA379724621 | PTH | c.200C>A (p.Ala67Asp) c.296C>A (p.Ala99Asp) | |
| 11 | g.13492554C>A | CA379724623 | PTH | c.199G>T (p.Ala67Ser) c.295G>T (p.Ala99Ser) | gnomAD v4 |
| 11 | g.13492554C= | CA1953324249 | PTH | c.199G= (p.Ala67=) c.295G= (p.Ala99=) | |
| 11 | g.13492554C>G | CA379724624 | PTH | c.199G>C (p.Ala67Pro) c.295G>C (p.Ala99Pro) | |
| 11 | g.13492554C>T | CA379724622 | PTH | c.199G>A (p.Ala67Thr) c.295G>A (p.Ala99Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.13492555A= | CA1953324254 | PTH | c.198T= (p.Val66=) c.294T= (p.Val98=) | |
| 11 | g.13492555A>C | CA473263520 | PTH | c.198T>G (p.Val66=) c.294T>G (p.Val98=) | gnomAD v4 |
| 11 | g.13492555A>G | CA473263521 | PTH | c.198T>C (p.Val66=) c.294T>C (p.Val98=) | dbSNP |
| 11 | g.13492555A>T | CA473263522 | PTH | c.198T>A (p.Val66=) c.294T>A (p.Val98=) | |
| 11 | g.13492556A>C | CA379724625 | PTH | c.197T>G (p.Val66Gly) c.293T>G (p.Val98Gly) | |
| 11 | g.13492556A>G | CA379724626 | PTH | c.197T>C (p.Val66Ala) c.293T>C (p.Val98Ala) | |
| 11 | g.13492556A>T | CA379724627 | PTH | c.197T>A (p.Val66Asp) c.293T>A (p.Val98Asp) | |
| 11 | g.13492557C>A | CA379724628 | PTH | c.196G>T (p.Val66Phe) c.292G>T (p.Val98Phe) | |
| 11 | g.13492557C= | CA1953324259 | PTH | c.196G= (p.Val66=) c.292G= (p.Val98=) | |
| 11 | g.13492557C>G | CA379724629 | PTH | c.196G>C (p.Val66Leu) c.292G>C (p.Val98Leu) | |
| 11 | g.13492557C>T | CA5893178 | PTH | c.196G>A (p.Val66Ile) c.292G>A (p.Val98Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13492558A>C | CA379724630 | PTH | c.195T>G (p.Phe65Leu) c.291T>G (p.Phe97Leu) | |
| 11 | g.13492558A>G | CA473263523 | PTH | c.195T>C (p.Phe65=) c.291T>C (p.Phe97=) | |
| 11 | g.13492558A>T | CA379724631 | PTH | c.195T>A (p.Phe65Leu) c.291T>A (p.Phe97Leu) | |
| 11 | g.13492559A>C | CA379724632 | PTH | c.194T>G (p.Phe65Cys) c.290T>G (p.Phe97Cys) | |
| 11 | g.13492559A>G | CA379724633 | PTH | c.194T>C (p.Phe65Ser) c.290T>C (p.Phe97Ser) | |
| 11 | g.13492559A>T | CA379724634 | PTH | c.194T>A (p.Phe65Tyr) c.290T>A (p.Phe97Tyr) | |
| 11 | g.13492560A>C | CA379724637 | PTH | c.193T>G (p.Phe65Val) c.289T>G (p.Phe97Val) | gnomAD v4 |
| 11 | g.13492560A>G | CA379724636 | PTH | c.193T>C (p.Phe65Leu) c.289T>C (p.Phe97Leu) | gnomAD v4 |
| 11 | g.13492560A>T | CA379724635 | PTH | c.193T>A (p.Phe65Ile) c.289T>A (p.Phe97Ile) | |
| 11 | g.13492561A>C | CA379724638 | PTH | c.192T>G (p.Asn64Lys) c.288T>G (p.Asn96Lys) | |
| 11 | g.13492561A>G | CA473263524 | PTH | c.192T>C (p.Asn64=) c.288T>C (p.Asn96=) | |
| 11 | g.13492561A>T | CA379724639 | PTH | c.192T>A (p.Asn64Lys) c.288T>A (p.Asn96Lys) | |
| 11 | g.13492562T>A | CA379724640 | PTH | c.191A>T (p.Asn64Ile) c.287A>T (p.Asn96Ile) | COSMIC |
| 11 | g.13492562T>C | CA379724641 | PTH | c.191A>G (p.Asn64Ser) c.287A>G (p.Asn96Ser) | ClinVar dbSNP gnomAD v2 |
| 11 | g.13492562T>G | CA379724642 | PTH | c.191A>C (p.Asn64Thr) c.287A>C (p.Asn96Thr) | COSMIC |
| 11 | g.13492562T= | CA1953324265 | PTH | c.191A= (p.Asn64=) c.287A= (p.Asn96=) | |
| 11 | g.13492563T>A | CA379724643 | PTH | c.190A>T (p.Asn64Tyr) c.286A>T (p.Asn96Tyr) | |
| 11 | g.13492563T>C | CA379724644 | PTH | c.190A>G (p.Asn64Asp) c.286A>G (p.Asn96Asp) | |
| 11 | g.13492563T>G | CA379724645 | PTH | c.190A>C (p.Asn64His) c.286A>C (p.Asn96His) | gnomAD v4 |
| 11 | g.13492564G>A | CA473263525 | PTH | c.189C>T (p.His63=) c.285C>T (p.His95=) | dbSNP |
| 11 | g.13492564G>C | CA379724646 | PTH | c.189C>G (p.His63Gln) c.285C>G (p.His95Gln) | |
| 11 | g.13492564G= | CA1953324269 | PTH | c.189C= (p.His63=) c.285C= (p.His95=) | |
| 11 | g.13492564G>T | CA379724647 | PTH | c.189C>A (p.His63Gln) c.285C>A (p.His95Gln) | gnomAD v4 |
| 11 | g.13492565T>A | CA379724648 | PTH | c.188A>T (p.His63Leu) c.284A>T (p.His95Leu) | |
| 11 | g.13492565T>C | CA379724649 | PTH | c.188A>G (p.His63Arg) c.284A>G (p.His95Arg) | |
| 11 | g.13492565T>G | CA379724650 | PTH | c.188A>C (p.His63Pro) c.284A>C (p.His95Pro) | gnomAD v4 |
| 11 | g.13492566G>A | CA379724653 | PTH | c.187C>T (p.His63Tyr) c.283C>T (p.His95Tyr) | |
| 11 | g.13492566G>C | CA379724652 | PTH | c.187C>G (p.His63Asp) c.283C>G (p.His95Asp) | |
| 11 | g.13492566G>T | CA379724651 | PTH | c.187C>A (p.His63Asn) c.283C>A (p.His95Asn) | |
| 11 | g.13492567del | CA2612561042 | PTH | c.186del (p.His63ThrfsTer10) c.282del (p.His95ThrfsTer10) | gnomAD v4 |
| 11 | g.13492567C>A | CA473263526 | PTH | c.186G>T (p.Val62=) c.282G>T (p.Val94=) | |
| 11 | g.13492567C>G | CA473263527 | PTH | c.186G>C (p.Val62=) c.282G>C (p.Val94=) | |
| 11 | g.13492567C>T | CA473263528 | PTH | c.186G>A (p.Val62=) c.282G>A (p.Val94=) | dbSNP gnomAD v4 |
| 11 | g.13492568A>C | CA379724656 | PTH | c.185T>G (p.Val62Gly) c.281T>G (p.Val94Gly) | |
| 11 | g.13492568A>G | CA379724654 | PTH | c.185T>C (p.Val62Ala) c.281T>C (p.Val94Ala) | |
| 11 | g.13492568A>T | CA379724655 | PTH | c.185T>A (p.Val62Glu) c.281T>A (p.Val94Glu) | |
| 11 | g.13492569C>A | CA379724657 | PTH | c.184G>T (p.Val62Leu) c.280G>T (p.Val94Leu) | |
| 11 | g.13492569C>G | CA379724658 | PTH | c.184G>C (p.Val62Leu) c.280G>C (p.Val94Leu) | gnomAD v4 |
| 11 | g.13492569C>T | CA379724659 | PTH | c.184G>A (p.Val62Met) c.280G>A (p.Val94Met) | gnomAD v4 COSMIC |
| 11 | g.13492570A= | CA1953324273 | PTH | c.183T= (p.Asp61=) c.279T= (p.Asp93=) | |
| 11 | g.13492570A>C | CA379724660 | PTH | c.183T>G (p.Asp61Glu) c.279T>G (p.Asp93Glu) | gnomAD v4 |
| 11 | g.13492570A>G | CA5893179 | PTH | c.183T>C (p.Asp61=) c.279T>C (p.Asp93=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.13492570A>T | CA379724661 | PTH | c.183T>A (p.Asp61Glu) c.279T>A (p.Asp93Glu) | |
| 11 | g.13492571T>A | CA379724662 | PTH | c.182A>T (p.Asp61Val) c.278A>T (p.Asp93Val) | |
| 11 | g.13492571T>C | CA379724663 | PTH | c.182A>G (p.Asp61Gly) c.278A>G (p.Asp93Gly) | |
| 11 | g.13492571T>G | CA379724664 | PTH | c.182A>C (p.Asp61Ala) c.278A>C (p.Asp93Ala) | |
| 11 | g.13492572C>A | CA379724665 | PTH | c.181G>T (p.Asp61Tyr) c.277G>T (p.Asp93Tyr) | |
| 11 | g.13492572C>G | CA379724666 | PTH | c.181G>C (p.Asp61His) c.277G>C (p.Asp93His) | |
| 11 | g.13492572C>T | CA379724667 | PTH | c.181G>A (p.Asp61Asn) c.277G>A (p.Asp93Asn) | |
| 11 | g.13492573C>A | CA379724669 | PTH | c.180G>T (p.Gln60His) c.276G>T (p.Gln92His) | |
| 11 | g.13492573C>G | CA379724668 | PTH | c.180G>C (p.Gln60His) c.276G>C (p.Gln92His) | |
| 11 | g.13492573C>T | CA473263529 | PTH | c.180G>A (p.Gln60=) c.276G>A (p.Gln92=) | gnomAD v4 COSMIC |
| 11 | g.13492574T>A | CA379724670 | PTH | c.179A>T (p.Gln60Leu) c.275A>T (p.Gln92Leu) | |
| 11 | g.13492574T>C | CA379724671 | PTH | c.179A>G (p.Gln60Arg) c.275A>G (p.Gln92Arg) | |
| 11 | g.13492574T>G | CA379724672 | PTH | c.179A>C (p.Gln60Pro) c.275A>C (p.Gln92Pro) | |
| 11 | g.13492575G>A | CA379724673 | PTH | c.178C>T (p.Gln60Ter) c.274C>T (p.Gln92Ter) | |
| 11 | g.13492575G>C | CA379724674 | PTH | c.178C>G (p.Gln60Glu) c.274C>G (p.Gln92Glu) | |
| 11 | g.13492575G>T | CA379724675 | PTH | c.178C>A (p.Gln60Lys) c.274C>A (p.Gln92Lys) | |
| 11 | g.13492576C>A | CA473263530 | PTH | c.177G>T (p.Leu59=) c.273G>T (p.Leu91=) | |
| 11 | g.13492576C= | CA1953324282 | PTH | c.177G= (p.Leu59=) c.273G= (p.Leu91=) | |
| 11 | g.13492576C>G | CA473263531 | PTH | c.177G>C (p.Leu59=) c.273G>C (p.Leu91=) | |
| 11 | g.13492576C>T | CA5893180 | PTH | c.177G>A (p.Leu59=) c.273G>A (p.Leu91=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13492577A>C | CA379724676 | PTH | c.176T>G (p.Leu59Arg) c.272T>G (p.Leu91Arg) | |
| 11 | g.13492577A>G | CA379724678 | PTH | c.176T>C (p.Leu59Pro) c.272T>C (p.Leu91Pro) | |
| 11 | g.13492577A>T | CA379724677 | PTH | c.176T>A (p.Leu59Gln) c.272T>A (p.Leu91Gln) | |
| 11 | g.13492578G>A | CA473263532 | PTH | c.175C>T (p.Leu59=) c.271C>T (p.Leu91=) | |
| 11 | g.13492578G>C | CA379724679 | PTH | c.175C>G (p.Leu59Val) c.271C>G (p.Leu91Val) | |
| 11 | g.13492578G>T | CA379724680 | PTH | c.175C>A (p.Leu59Met) c.271C>A (p.Leu91Met) | |
| 11 | g.13492579C>A | CA379724681 | PTH | c.174G>T (p.Lys58Asn) c.270G>T (p.Lys90Asn) | |
| 11 | g.13492579C= | CA1953324289 | PTH | c.174G= (p.Lys58=) c.270G= (p.Lys90=) | |
| 11 | g.13492579C>G | CA379724682 | PTH | c.174G>C (p.Lys58Asn) c.270G>C (p.Lys90Asn) | |
| 11 | g.13492579C>T | CA473263533 | PTH | c.174G>A (p.Lys58=) c.270G>A (p.Lys90=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13492580T>A | CA379724683 | PTH | c.173A>T (p.Lys58Met) c.269A>T (p.Lys90Met) | |
| 11 | g.13492580T>C | CA379724685 | PTH | c.173A>G (p.Lys58Arg) c.269A>G (p.Lys90Arg) | |
| 11 | g.13492580T>G | CA379724684 | PTH | c.173A>C (p.Lys58Thr) c.269A>C (p.Lys90Thr) | |
| 11 | g.13492581T>A | CA379724686 | PTH | c.172A>T (p.Lys58Ter) c.268A>T (p.Lys90Ter) | |
| 11 | g.13492581T>C | CA379724687 | PTH | c.172A>G (p.Lys58Glu) c.268A>G (p.Lys90Glu) | |
| 11 | g.13492581T>G | CA379724688 | PTH | c.172A>C (p.Lys58Gln) c.268A>C (p.Lys90Gln) | |
| 11 | g.13492582C>A | CA379724689 | PTH | c.171G>T (p.Lys57Asn) c.267G>T (p.Lys89Asn) | |
| 11 | g.13492582C>G | CA379724690 | PTH | c.171G>C (p.Lys57Asn) c.267G>C (p.Lys89Asn) | |
| 11 | g.13492582C>T | CA473263534 | PTH | c.171G>A (p.Lys57=) c.267G>A (p.Lys89=) | gnomAD v4 |
| 11 | g.13492583T>A | CA379724693 | PTH | c.170A>T (p.Lys57Met) c.266A>T (p.Lys89Met) | |
| 11 | g.13492583T>C | CA379724692 | PTH | c.170A>G (p.Lys57Arg) c.266A>G (p.Lys89Arg) | |
| 11 | g.13492583T>G | CA379724691 | PTH | c.170A>C (p.Lys57Thr) c.266A>C (p.Lys89Thr) | |
| 11 | g.13492584T>A | CA379724694 | PTH | c.169A>T (p.Lys57Ter) c.265A>T (p.Lys89Ter) | |
| 11 | g.13492584T>C | CA379724695 | PTH | c.169A>G (p.Lys57Glu) c.265A>G (p.Lys89Glu) | dbSNP gnomAD v4 |
| 11 | g.13492584T>G | CA379724696 | PTH | c.169A>C (p.Lys57Gln) c.265A>C (p.Lys89Gln) | |
| 11 | g.13492584T= | CA1953324292 | PTH | c.169A= (p.Lys57=) c.265A= (p.Lys89=) | |
| 11 | g.13492585A= | CA1953324296 | PTH | c.168T= (p.Arg56=) c.264T= (p.Arg88=) | |
| 11 | g.13492585A>C | CA473263535 | PTH | c.168T>G (p.Arg56=) c.264T>G (p.Arg88=) | dbSNP |
| 11 | g.13492585A>G | CA473263536 | PTH | c.168T>C (p.Arg56=) c.264T>C (p.Arg88=) | |
| 11 | g.13492585A>T | CA473263537 | PTH | c.168T>A (p.Arg56=) c.264T>A (p.Arg88=) | gnomAD v4 |
| 11 | g.13492585dup | CA2612561043 | PTH | c.168dup (p.Lys57Ter) c.264dup (p.Lys89Ter) | dbSNP gnomAD v4 |
| 11 | g.13492586C>A | CA379724697 | PTH | c.167G>T (p.Arg56Leu) c.263G>T (p.Arg88Leu) | |
| 11 | g.13492586C= | CA1953324301 | PTH | c.167G= (p.Arg56=) c.263G= (p.Arg88=) | |
| 11 | g.13492586C>G | CA379724698 | PTH | c.167G>C (p.Arg56Pro) c.263G>C (p.Arg88Pro) | dbSNP |
| 11 | g.13492586C>T | CA5893181 | PTH | c.167G>A (p.Arg56His) c.263G>A (p.Arg88His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.13492587G>A | CA5893182 | PTH | c.166C>T (p.Arg56Cys) c.262C>T (p.Arg88Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13492587G>C | CA379724700 | PTH | c.166C>G (p.Arg56Gly) c.262C>G (p.Arg88Gly) | |
| 11 | g.13492587G= | CA1953324307 | PTH | c.166C= (p.Arg56=) c.262C= (p.Arg88=) | |
| 11 | g.13492587G>T | CA379724699 | PTH | c.166C>A (p.Arg56Ser) c.262C>A (p.Arg88Ser) | |
| 11 | g.13492588C>A | CA473263540 | PTH | c.165G>T (p.Leu55=) c.261G>T (p.Leu87=) | |
| 11 | g.13492588C= | CA1953324316 | PTH | c.165G= (p.Leu55=) c.261G= (p.Leu87=) | |
| 11 | g.13492588C>G | CA473263538 | PTH | c.165G>C (p.Leu55=) c.261G>C (p.Leu87=) | gnomAD v4 |
| 11 | g.13492588C>T | CA473263539 | PTH | c.165G>A (p.Leu55=) c.261G>A (p.Leu87=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.13492589A>C | CA379724701 | PTH | c.164T>G (p.Leu55Arg) c.260T>G (p.Leu87Arg) | |
| 11 | g.13492589A>G | CA379724702 | PTH | c.164T>C (p.Leu55Pro) c.260T>C (p.Leu87Pro) | |
| 11 | g.13492589A>T | CA379724703 | PTH | c.164T>A (p.Leu55Gln) c.260T>A (p.Leu87Gln) |