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.129528958C>A | CA435768996 | RHO | c.225C>A (p.Ile75=) | |
| 3 | g.129528958C>G | CA354496392 | RHO | c.225C>G (p.Ile75Met) | COSMIC |
| 3 | g.129528958C>T | CA435768997 | RHO | c.225C>T (p.Ile75=) | |
| 3 | g.129528959C>A | CA354496395 | RHO | c.226C>A (p.Leu76Met) | |
| 3 | g.129528959C>G | CA354496396 | RHO | c.226C>G (p.Leu76Val) | |
| 3 | g.129528959C>T | CA435768999 | RHO | c.226C>T (p.Leu76=) | ClinVar |
| 3 | g.129528960T>A | CA354496404 | RHO | c.227T>A (p.Leu76Gln) | |
| 3 | g.129528960T>C | CA354496400 | RHO | c.227T>C (p.Leu76Pro) | |
| 3 | g.129528960T>G | CA354496401 | RHO | c.227T>G (p.Leu76Arg) | |
| 3 | g.129528961G>A | CA435769000 | RHO | c.228G>A (p.Leu76=) | dbSNP gnomAD v4 |
| 3 | g.129528961G>C | CA435769001 | RHO | c.228G>C (p.Leu76=) | |
| 3 | g.129528961G= | CA1401205706 | RHO | c.228G= (p.Leu76=) | |
| 3 | g.129528961G>T | CA435769002 | RHO | c.228G>T (p.Leu76=) | |
| 3 | g.129528962C>A | CA354496406 | RHO | c.229C>A (p.Leu77Ile) | |
| 3 | g.129528962C= | CA1401205713 | RHO | c.229C= (p.Leu77=) | |
| 3 | g.129528962C>G | CA354496410 | RHO | c.229C>G (p.Leu77Val) | |
| 3 | g.129528962C>T | CA354496411 | RHO | c.229C>T (p.Leu77Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129528963T>A | CA354496413 | RHO | c.230T>A (p.Leu77His) | |
| 3 | g.129528963T>C | CA354496415 | RHO | c.230T>C (p.Leu77Pro) | |
| 3 | g.129528963T>G | CA354496417 | RHO | c.230T>G (p.Leu77Arg) | |
| 3 | g.129528964C>A | CA435768662 | RHO | c.231C>A (p.Leu77=) | |
| 3 | g.129528964C>G | CA435768663 | RHO | c.231C>G (p.Leu77=) | |
| 3 | g.129528964C>T | CA435768664 | RHO | c.231C>T (p.Leu77=) | |
| 3 | g.129528965A= | CA1401205720 | RHO | c.232A= (p.Asn78=) | |
| 3 | g.129528965A>C | CA354496419 | RHO | c.232A>C (p.Asn78His) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129528965A>G | CA354496421 | RHO | c.232A>G (p.Asn78Asp) | |
| 3 | g.129528965A>T | CA354496422 | RHO | c.232A>T (p.Asn78Tyr) | ClinVar dbSNP |
| 3 | g.129528966A= | CA1401205724 | RHO | c.233A= (p.Asn78=) | |
| 3 | g.129528966A>C | CA354496424 | RHO | c.233A>C (p.Asn78Thr) | dbSNP |
| 3 | g.129528966A>G | CA354496428 | RHO | c.233A>G (p.Asn78Ser) | gnomAD v4 |
| 3 | g.129528966A>T | CA354496429 | RHO | c.233A>T (p.Asn78Ile) | ClinVar |
| 3 | g.129528966_129528967delinsAC | CA1401205722 | RHO | c.233_234delinsAC (p.Asn78=) | |
| 3 | g.129528967C>A | CA354496432 | RHO | c.234C>A (p.Asn78Lys) | |
| 3 | g.129528967C>G | CA354496433 | RHO | c.234C>G (p.Asn78Lys) | |
| 3 | g.129528967C>T | CA435768673 | RHO | c.234C>T (p.Asn78=) | gnomAD v4 |
| 3 | g.129528968del | CA546417604 | RHO | c.235del (p.Leu79Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528968C>A | CA354496437 | RHO | c.235C>A (p.Leu79Ile) | |
| 3 | g.129528968C= | CA1401205739 | RHO | c.235C= (p.Leu79=) | |
| 3 | g.129528968C>G | CA354496435 | RHO | c.235C>G (p.Leu79Val) | COSMIC |
| 3 | g.129528968C>T | CA435768675 | RHO | c.235C>T (p.Leu79=) | dbSNP gnomAD v4 |
| 3 | g.129528969T>A | CA354496442 | RHO | c.236T>A (p.Leu79Gln) | |
| 3 | g.129528969T>C | CA354496443 | RHO | c.236T>C (p.Leu79Pro) | |
| 3 | g.129528969T>G | CA354496447 | RHO | c.236T>G (p.Leu79Arg) | |
| 3 | g.129528970A>C | CA435768677 | RHO | c.237A>C (p.Leu79=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.129528970A>G | CA435768678 | RHO | c.237A>G (p.Leu79=) | dbSNP |
| 3 | g.129528970A>T | CA435768679 | RHO | c.237A>T (p.Leu79=) | |
| 3 | g.129528971G>A | CA354496448 | RHO | c.238G>A (p.Ala80Thr) | gnomAD v4 |
| 3 | g.129528971G>C | CA354496450 | RHO | c.238G>C (p.Ala80Pro) | |
| 3 | g.129528971G= | CA1401205744 | RHO | c.238G= (p.Ala80=) | |
| 3 | g.129528971G>T | CA354496452 | RHO | c.238G>T (p.Ala80Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528972C>A | CA354496469 | RHO | c.239C>A (p.Ala80Asp) | |
| 3 | g.129528972C>G | CA354496470 | RHO | c.239C>G (p.Ala80Gly) | |
| 3 | g.129528972C>T | CA354496471 | RHO | c.239C>T (p.Ala80Val) | |
| 3 | g.129528973C>A | CA435768682 | RHO | c.240C>A (p.Ala80=) | |
| 3 | g.129528973C= | CA1401205752 | RHO | c.240C= (p.Ala80=) | |
| 3 | g.129528973C>G | CA2607094 | RHO | c.240C>G (p.Ala80=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528973C>T | CA82646936 | RHO | c.240C>T (p.Ala80=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.129528973_129528976delinsCGTG | CA1401205750 | RHO | c.240_243delinsCGTG (p.Ala80=) | |
| 3 | g.129528974G>A | CA2607095 | RHO | c.241G>A (p.Val81Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528974G>C | CA354496473 | RHO | c.241G>C (p.Val81Leu) | |
| 3 | g.129528974G= | CA1401205758 | RHO | c.241G= (p.Val81=) | |
| 3 | g.129528974G>T | CA354496474 | RHO | c.241G>T (p.Val81Leu) | |
| 3 | g.129528975_129528977del | CA1401205766 | RHO | c.242_244del (p.Val81del) | ClinVar dbSNP |
| 3 | g.129528975T>A | CA354496476 | RHO | c.242T>A (p.Val81Glu) | |
| 3 | g.129528975T>C | CA2607096 | RHO | c.242T>C (p.Val81Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129528975T>G | CA354496485 | RHO | c.242T>G (p.Val81Gly) | |
| 3 | g.129528975T= | CA1401205774 | RHO | c.242T= (p.Val81=) | |
| 3 | g.129528976G>A | CA435768688 | RHO | c.243G>A (p.Val81=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129528976G>C | CA435768689 | RHO | c.243G>C (p.Val81=) | |
| 3 | g.129528976G= | CA1401205788 | RHO | c.243G= (p.Val81=) | |
| 3 | g.129528976G>T | CA435768690 | RHO | c.243G>T (p.Val81=) | |
| 3 | g.129528977G>A | CA354496487 | RHO | c.244G>A (p.Ala82Thr) | |
| 3 | g.129528977G>C | CA354496497 | RHO | c.244G>C (p.Ala82Pro) | |
| 3 | g.129528977G>T | CA354496496 | RHO | c.244G>T (p.Ala82Ser) | |
| 3 | g.129528978C>A | CA354496502 | RHO | c.245C>A (p.Ala82Asp) | |
| 3 | g.129528978C= | CA1401205793 | RHO | c.245C= (p.Ala82=) | |
| 3 | g.129528978C>G | CA354496503 | RHO | c.245C>G (p.Ala82Gly) | dbSNP |
| 3 | g.129528978C>T | CA82646946 | RHO | c.245C>T (p.Ala82Val) | dbSNP |
| 3 | g.129528979T>A | CA435768694 | RHO | c.246T>A (p.Ala82=) | |
| 3 | g.129528979T>C | CA2607097 | RHO | c.246T>C (p.Ala82=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528979T>G | CA435768696 | RHO | c.246T>G (p.Ala82=) | |
| 3 | g.129528979T= | CA1401205797 | RHO | c.246T= (p.Ala82=) | |
| 3 | g.129528980G>A | CA354496504 | RHO | c.247G>A (p.Asp83Asn) | dbSNP |
| 3 | g.129528980G>C | CA354496505 | RHO | c.247G>C (p.Asp83His) | COSMIC |
| 3 | g.129528980G= | CA1401205813 | RHO | c.247G= (p.Asp83=) | |
| 3 | g.129528980G>T | CA354496506 | RHO | c.247G>T (p.Asp83Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129528981A= | CA1401205820 | RHO | c.248A= (p.Asp83=) | |
| 3 | g.129528981A>C | CA354496508 | RHO | c.248A>C (p.Asp83Ala) | |
| 3 | g.129528981A>G | CA354496516 | RHO | c.248A>G (p.Asp83Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129528981A>T | CA354496518 | RHO | c.248A>T (p.Asp83Val) | |
| 3 | g.129528982C>A | CA354496521 | RHO | c.249C>A (p.Asp83Glu) | |
| 3 | g.129528982C= | CA1401205824 | RHO | c.249C= (p.Asp83=) | |
| 3 | g.129528982C>G | CA354496526 | RHO | c.249C>G (p.Asp83Glu) | |
| 3 | g.129528982C>T | CA435768701 | RHO | c.249C>T (p.Asp83=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528983C>A | CA354496536 | RHO | c.250C>A (p.Leu84Ile) | |
| 3 | g.129528983C= | CA1401205827 | RHO | c.250C= (p.Leu84=) | |
| 3 | g.129528983C>G | CA2607098 | RHO | c.250C>G (p.Leu84Val) | dbSNP ExAC gnomAD v4 |
| 3 | g.129528983C>T | CA354496528 | RHO | c.250C>T (p.Leu84Phe) | |
| 3 | g.129528984T>A | CA354496539 | RHO | c.251T>A (p.Leu84His) | |
| 3 | g.129528984T>C | CA354496544 | RHO | c.251T>C (p.Leu84Pro) | ClinVar dbSNP |
| 3 | g.129528984T>G | CA354496546 | RHO | c.251T>G (p.Leu84Arg) | |
| 3 | g.129528985C>A | CA435768706 | RHO | c.252C>A (p.Leu84=) | |
| 3 | g.129528985C= | CA1401205830 | RHO | c.252C= (p.Leu84=) | |
| 3 | g.129528985C>G | CA435768707 | RHO | c.252C>G (p.Leu84=) | COSMIC |
| 3 | g.129528985C>T | CA435768708 | RHO | c.252C>T (p.Leu84=) | dbSNP gnomAD v4 |
| 3 | g.129528986T>A | CA354496549 | RHO | c.253T>A (p.Phe85Ile) | |
| 3 | g.129528986T>C | CA354496551 | RHO | c.253T>C (p.Phe85Leu) | |
| 3 | g.129528986T>G | CA354496553 | RHO | c.253T>G (p.Phe85Val) | |
| 3 | g.129528987T>A | CA354496556 | RHO | c.254T>A (p.Phe85Tyr) | |
| 3 | g.129528987T>C | CA354496557 | RHO | c.254T>C (p.Phe85Ser) | |
| 3 | g.129528987T>G | CA354496561 | RHO | c.254T>G (p.Phe85Cys) | |
| 3 | g.129528988C>A | CA354496562 | RHO | c.255C>A (p.Phe85Leu) | |
| 3 | g.129528988C>G | CA354496570 | RHO | c.255C>G (p.Phe85Leu) | |
| 3 | g.129528988C>T | CA435768712 | RHO | c.255C>T (p.Phe85=) | gnomAD v4 |
| 3 | g.129528989A>C | CA354496577 | RHO | c.256A>C (p.Met86Leu) | |
| 3 | g.129528989A>G | CA354496576 | RHO | c.256A>G (p.Met86Val) | |
| 3 | g.129528989A>T | CA354496573 | RHO | c.256A>T (p.Met86Leu) | |
| 3 | g.129528990T>A | CA354496580 | RHO | c.257T>A (p.Met86Lys) | COSMIC |
| 3 | g.129528990T>C | CA354496581 | RHO | c.257T>C (p.Met86Thr) | gnomAD v4 |
| 3 | g.129528990T>G | CA354496584 | RHO | c.257T>G (p.Met86Arg) | |
| 3 | g.129528991G>A | CA354496585 | RHO | c.258G>A (p.Met86Ile) | dbSNP |
| 3 | g.129528991G>C | CA354496586 | RHO | c.258G>C (p.Met86Ile) | |
| 3 | g.129528991G= | CA1401205834 | RHO | c.258G= (p.Met86=) | |
| 3 | g.129528991G>T | CA354496587 | RHO | c.258G>T (p.Met86Ile) | COSMIC |
| 3 | g.129528992G>A | CA354496601 | RHO | c.259G>A (p.Val87Ile) | |
| 3 | g.129528992G>C | CA354496592 | RHO | c.259G>C (p.Val87Leu) | |
| 3 | g.129528992G>T | CA354496594 | RHO | c.259G>T (p.Val87Phe) | ClinVar |
| 3 | g.129528993T>A | CA256667 | RHO | c.260T>A (p.Val87Asp) | ClinVar dbSNP |
| 3 | g.129528993T>C | CA354496603 | RHO | c.260T>C (p.Val87Ala) | dbSNP |
| 3 | g.129528993T>G | CA354496604 | RHO | c.260T>G (p.Val87Gly) | |
| 3 | g.129528993T= | CA1401205841 | RHO | c.260T= (p.Val87=) | |
| 3 | g.129528994C>A | CA435768715 | RHO | c.261C>A (p.Val87=) | gnomAD v4 |
| 3 | g.129528994C>G | CA435768716 | RHO | c.261C>G (p.Val87=) | |
| 3 | g.129528994C>T | CA435768717 | RHO | c.261C>T (p.Val87=) | |
| 3 | g.129528995C>A | CA354496607 | RHO | c.262C>A (p.Leu88Ile) | |
| 3 | g.129528995C= | CA1401205856 | RHO | c.262C= (p.Leu88=) | |
| 3 | g.129528995C>G | CA354496610 | RHO | c.262C>G (p.Leu88Val) | |
| 3 | g.129528995C>T | CA435768718 | RHO | c.262C>T (p.Leu88=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129528996T>A | CA354496613 | RHO | c.263T>A (p.Leu88Gln) | |
| 3 | g.129528996T>C | CA16604468 | RHO | c.263T>C (p.Leu88Pro) | ClinVar dbSNP COSMIC |
| 3 | g.129528996T>G | CA354496616 | RHO | c.263T>G (p.Leu88Arg) | |
| 3 | g.129528996T= | CA1401205864 | RHO | c.263T= (p.Leu88=) | |
| 3 | g.129528997A>C | CA435768723 | RHO | c.264A>C (p.Leu88=) | dbSNP |
| 3 | g.129528997A>G | CA435768724 | RHO | c.264A>G (p.Leu88=) | |
| 3 | g.129528997A>T | CA435768725 | RHO | c.264A>T (p.Leu88=) | |
| 3 | g.129528998G>A | CA354496618 | RHO | c.265G>A (p.Gly89Ser) | |
| 3 | g.129528998G>C | CA354496619 | RHO | c.265G>C (p.Gly89Arg) | ClinVar dbSNP |
| 3 | g.129528998G= | CA1401205877 | RHO | c.265G= (p.Gly89=) | |
| 3 | g.129528998G>T | CA354496621 | RHO | c.265G>T (p.Gly89Cys) | COSMIC |
| 3 | g.129528999G>A | CA256668 | RHO | c.266G>A (p.Gly89Asp) | ClinVar dbSNP |
| 3 | g.129528999G>C | CA354496625 | RHO | c.266G>C (p.Gly89Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129528999G= | CA1401205899 | RHO | c.266G= (p.Gly89=) | |
| 3 | g.129528999G>T | CA354496627 | RHO | c.266G>T (p.Gly89Val) | |
| 3 | g.129529000T>A | CA435768728 | RHO | c.267T>A (p.Gly89=) | dbSNP |
| 3 | g.129529000T>C | CA2607099 | RHO | c.267T>C (p.Gly89=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129529000T>G | CA435768729 | RHO | c.267T>G (p.Gly89=) | |
| 3 | g.129529000T= | CA1401205904 | RHO | c.267T= (p.Gly89=) | |
| 3 | g.129529001G>A | CA354496632 | RHO | c.268G>A (p.Gly90Ser) | |
| 3 | g.129529001G>C | CA354496633 | RHO | c.268G>C (p.Gly90Arg) | dbSNP |
| 3 | g.129529001G>T | CA354496636 | RHO | c.268G>T (p.Gly90Cys) | |
| 3 | g.129529002del | CA2667615395 | RHO | c.269del (p.Gly90AlafsTer?) | gnomAD v4 |
| 3 | g.129529002G>A | CA122823 | RHO | c.269G>A (p.Gly90Asp) | ClinVar dbSNP |
| 3 | g.129529002G>C | CA354496640 | RHO | c.269G>C (p.Gly90Ala) | |
| 3 | g.129529002G= | CA1401205916 | RHO | c.269G= (p.Gly90=) | |
| 3 | g.129529002G>T | CA354496638 | RHO | c.269G>T (p.Gly90Val) | gnomAD v4 |
| 3 | g.129529003C>A | CA435768734 | RHO | c.270C>A (p.Gly90=) | dbSNP |
| 3 | g.129529003C>G | CA435768735 | RHO | c.270C>G (p.Gly90=) | |
| 3 | g.129529003C>T | CA435768736 | RHO | c.270C>T (p.Gly90=) | gnomAD v4 |
| 3 | g.129529004T>A | CA354496643 | RHO | c.271T>A (p.Phe91Ile) | |
| 3 | g.129529004T>C | CA354496645 | RHO | c.271T>C (p.Phe91Leu) | |
| 3 | g.129529004T>G | CA354496644 | RHO | c.271T>G (p.Phe91Val) | |
| 3 | g.129529005T>A | CA354496647 | RHO | c.272T>A (p.Phe91Tyr) | |
| 3 | g.129529005T>C | CA354496649 | RHO | c.272T>C (p.Phe91Ser) | |
| 3 | g.129529005T>G | CA354496652 | RHO | c.272T>G (p.Phe91Cys) | |
| 3 | g.129529006C>A | CA354496654 | RHO | c.273C>A (p.Phe91Leu) | |
| 3 | g.129529006C>G | CA354496656 | RHO | c.273C>G (p.Phe91Leu) | |
| 3 | g.129529006C>T | CA435768738 | RHO | c.273C>T (p.Phe91=) | ClinVar gnomAD v4 |
| 3 | g.129529007A= | CA1401205924 | RHO | c.274A= (p.Thr92=) | |
| 3 | g.129529007A>C | CA354496659 | RHO | c.274A>C (p.Thr92Pro) | |
| 3 | g.129529007A>G | CA2607100 | RHO | c.274A>G (p.Thr92Ala) | ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.129529007A>T | CA354496663 | RHO | c.274A>T (p.Thr92Ser) | gnomAD v4 |
| 3 | g.129529008C>A | CA354496667 | RHO | c.275C>A (p.Thr92Asn) | |
| 3 | g.129529008C>G | CA354496669 | RHO | c.275C>G (p.Thr92Ser) | |
| 3 | g.129529008C>T | CA354496671 | RHO | c.275C>T (p.Thr92Ile) | gnomAD v4 |
| 3 | g.129529009C>A | CA435768740 | RHO | c.276C>A (p.Thr92=) | |
| 3 | g.129529009C>G | CA435768741 | RHO | c.276C>G (p.Thr92=) | |
| 3 | g.129529009C>T | CA435768742 | RHO | c.276C>T (p.Thr92=) | gnomAD v4 |
| 3 | g.129529010A>C | CA354496677 | RHO | c.277A>C (p.Ser93Arg) | ClinVar |
| 3 | g.129529010A>G | CA354496676 | RHO | c.277A>G (p.Ser93Gly) | |
| 3 | g.129529010A>T | CA354496673 | RHO | c.277A>T (p.Ser93Cys) | |
| 3 | g.129529011G>A | CA354496680 | RHO | c.278G>A (p.Ser93Asn) | |
| 3 | g.129529011G>C | CA354496682 | RHO | c.278G>C (p.Ser93Thr) | dbSNP |
| 3 | g.129529011G>T | CA354496685 | RHO | c.278G>T (p.Ser93Ile) | |
| 3 | g.129529012C>A | CA354496686 | RHO | c.279C>A (p.Ser93Arg) | |
| 3 | g.129529012C= | CA1401205933 | RHO | c.279C= (p.Ser93=) | |
| 3 | g.129529012C>G | CA354496688 | RHO | c.279C>G (p.Ser93Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.129529012C>T | CA2607101 | RHO | c.279C>T (p.Ser93=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129529013A>C | CA354496690 | RHO | c.280A>C (p.Thr94Pro) | |
| 3 | g.129529013A>G | CA354496693 | RHO | c.280A>G (p.Thr94Ala) | |
| 3 | g.129529013A>T | CA354496695 | RHO | c.280A>T (p.Thr94Ser) | |
| 3 | g.129529014C>A | CA354496697 | RHO | c.281C>A (p.Thr94Asn) | |
| 3 | g.129529014C= | CA1401205954 | RHO | c.281C= (p.Thr94=) | |
| 3 | g.129529014C>G | CA354496699 | RHO | c.281C>G (p.Thr94Ser) | |
| 3 | g.129529014C>T | CA122825 | RHO | c.281C>T (p.Thr94Ile) | ClinVar dbSNP |
| 3 | g.129529015C>A | CA435768745 | RHO | c.282C>A (p.Thr94=) | |
| 3 | g.129529015C>G | CA435768746 | RHO | c.282C>G (p.Thr94=) | ClinVar |
| 3 | g.129529015C>T | CA435768747 | RHO | c.282C>T (p.Thr94=) | |
| 3 | g.129529016C>A | CA354496703 | RHO | c.283C>A (p.Leu95Ile) | |
| 3 | g.129529016C>G | CA354496702 | RHO | c.283C>G (p.Leu95Val) | |
| 3 | g.129529016C>T | CA354496701 | RHO | c.283C>T (p.Leu95Phe) | |
| 3 | g.129529017T>A | CA354496719 | RHO | c.284T>A (p.Leu95His) | |
| 3 | g.129529017T>C | CA354496712 | RHO | c.284T>C (p.Leu95Pro) | ClinVar dbSNP |
| 3 | g.129529017T>G | CA354496718 | RHO | c.284T>G (p.Leu95Arg) | |
| 3 | g.129529017T= | CA1401205962 | RHO | c.284T= (p.Leu95=) | |
| 3 | g.129529018C>A | CA435768749 | RHO | c.285C>A (p.Leu95=) | |
| 3 | g.129529018C>G | CA435768750 | RHO | c.285C>G (p.Leu95=) | ClinVar dbSNP |
| 3 | g.129529018C>T | CA435768751 | RHO | c.285C>T (p.Leu95=) | |
| 3 | g.129529019T>A | CA354496721 | RHO | c.286T>A (p.Tyr96Asn) | |
| 3 | g.129529019T>C | CA354496723 | RHO | c.286T>C (p.Tyr96His) | |
| 3 | g.129529019T>G | CA354496725 | RHO | c.286T>G (p.Tyr96Asp) | |
| 3 | g.129529020A>C | CA354496728 | RHO | c.287A>C (p.Tyr96Ser) | |
| 3 | g.129529020A>G | CA354496727 | RHO | c.287A>G (p.Tyr96Cys) | |
| 3 | g.129529020A>T | CA354496726 | RHO | c.287A>T (p.Tyr96Phe) | |
| 3 | g.129529021C>A | CA354496731 | RHO | c.288C>A (p.Tyr96Ter) | |
| 3 | g.129529021C= | CA1401205967 | RHO | c.288C= (p.Tyr96=) | |
| 3 | g.129529021C>G | CA354496732 | RHO | c.288C>G (p.Tyr96Ter) | |
| 3 | g.129529021C>T | CA2607102 | RHO | c.288C>T (p.Tyr96=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129529022A>C | CA354496733 | RHO | c.289A>C (p.Thr97Pro) | |
| 3 | g.129529022A>G | CA354496734 | RHO | c.289A>G (p.Thr97Ala) | |
| 3 | g.129529022A>T | CA354496737 | RHO | c.289A>T (p.Thr97Ser) | |
| 3 | g.129529023C>A | CA354496739 | RHO | c.290C>A (p.Thr97Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129529023C= | CA1401205977 | RHO | c.290C= (p.Thr97=) | |
| 3 | g.129529023C>G | CA354496742 | RHO | c.290C>G (p.Thr97Ser) | |
| 3 | g.129529023C>T | CA354496740 | RHO | c.290C>T (p.Thr97Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129529024C>A | CA435768755 | RHO | c.291C>A (p.Thr97=) | COSMIC |
| 3 | g.129529024C>G | CA435768756 | RHO | c.291C>G (p.Thr97=) | |
| 3 | g.129529024C>T | CA435768757 | RHO | c.291C>T (p.Thr97=) | |
| 3 | g.129529025T>A | CA354496744 | RHO | c.292T>A (p.Ser98Thr) | |
| 3 | g.129529025T>C | CA354496745 | RHO | c.292T>C (p.Ser98Pro) | |
| 3 | g.129529025T>G | CA354496751 | RHO | c.292T>G (p.Ser98Ala) | |
| 3 | g.129529026C>A | CA354496753 | RHO | c.293C>A (p.Ser98Tyr) | |
| 3 | g.129529026C= | CA1401205981 | RHO | c.293C= (p.Ser98=) | |
| 3 | g.129529026C>G | CA2607103 | RHO | c.293C>G (p.Ser98Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129529026C>T | CA354496755 | RHO | c.293C>T (p.Ser98Phe) | |
| 3 | g.129529027T>A | CA435768760 | RHO | c.294T>A (p.Ser98=) | dbSNP |
| 3 | g.129529027T>C | CA435768761 | RHO | c.294T>C (p.Ser98=) | dbSNP |
| 3 | g.129529027T>G | CA435768762 | RHO | c.294T>G (p.Ser98=) | |
| 3 | g.129529027T= | CA1401205994 | RHO | c.294T= (p.Ser98=) | |
| 3 | g.129529028C>A | CA354496756 | RHO | c.295C>A (p.Leu99Met) | |
| 3 | g.129529028C= | CA1401205998 | RHO | c.295C= (p.Leu99=) | |
| 3 | g.129529028C>G | CA354496757 | RHO | c.295C>G (p.Leu99Val) | |
| 3 | g.129529028C>T | CA435768763 | RHO | c.295C>T (p.Leu99=) | dbSNP gnomAD v4 |
| 3 | g.129529029T>A | CA354496766 | RHO | c.296T>A (p.Leu99Gln) | |
| 3 | g.129529029T>C | CA354496768 | RHO | c.296T>C (p.Leu99Pro) | ClinVar |
| 3 | g.129529029T>G | CA354496769 | RHO | c.296T>G (p.Leu99Arg) | |
| 3 | g.129529030G>A | CA435768764 | RHO | c.297G>A (p.Leu99=) | |
| 3 | g.129529030G>C | CA435768765 | RHO | c.297G>C (p.Leu99=) | dbSNP |
| 3 | g.129529030G>T | CA435768766 | RHO | c.297G>T (p.Leu99=) | |
| 3 | g.129529031C>A | CA354496773 | RHO | c.298C>A (p.His100Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129529031C= | CA1401206000 | RHO | c.298C= (p.His100=) | |
| 3 | g.129529031C>G | CA354496776 | RHO | c.298C>G (p.His100Asp) | |
| 3 | g.129529031C>T | CA354496771 | RHO | c.298C>T (p.His100Tyr) | |
| 3 | g.129529032A= | CA1401206004 | RHO | c.299A= (p.His100=) | |
| 3 | g.129529032A>C | CA354496779 | RHO | c.299A>C (p.His100Pro) | ClinVar |
| 3 | g.129529032A>G | CA2607104 | RHO | c.299A>G (p.His100Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129529032A>T | CA354496781 | RHO | c.299A>T (p.His100Leu) | |
| 3 | g.129529033T>A | CA354496784 | RHO | c.300T>A (p.His100Gln) | |
| 3 | g.129529033T>C | CA435768767 | RHO | c.300T>C (p.His100=) | |
| 3 | g.129529033T>G | CA354496787 | RHO | c.300T>G (p.His100Gln) | |
| 3 | g.129529034G>A | CA354496788 | RHO | c.301G>A (p.Gly101Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129529034G>C | CA354496790 | RHO | c.301G>C (p.Gly101Arg) | |
| 3 | g.129529034G= | CA1401206009 | RHO | c.301G= (p.Gly101=) | |
| 3 | g.129529034G>T | CA354496792 | RHO | c.301G>T (p.Gly101Ter) | |
| 3 | g.129529035G>A | CA2607105 | RHO | c.302G>A (p.Gly101Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129529035G>C | CA354496797 | RHO | c.302G>C (p.Gly101Ala) | gnomAD v4 |
| 3 | g.129529035G= | CA1401206013 | RHO | c.302G= (p.Gly101=) | |
| 3 | g.129529035G>T | CA354496798 | RHO | c.302G>T (p.Gly101Val) | ClinVar dbSNP |
| 3 | g.129529036A>C | CA435768768 | RHO | c.303A>C (p.Gly101=) | dbSNP gnomAD v4 |
| 3 | g.129529036A>G | CA435768769 | RHO | c.303A>G (p.Gly101=) | |
| 3 | g.129529036A>T | CA435768770 | RHO | c.303A>T (p.Gly101=) | |
| 3 | g.129529037T>A | CA354496800 | RHO | c.304T>A (p.Tyr102Asn) | ClinVar dbSNP |
| 3 | g.129529037T>C | CA354496802 | RHO | c.304T>C (p.Tyr102His) | dbSNP |
| 3 | g.129529037T>G | CA354496803 | RHO | c.304T>G (p.Tyr102Asp) | |
| 3 | g.129529037T= | CA1401206020 | RHO | c.304T= (p.Tyr102=) | |
| 3 | g.129529038A>C | CA354496809 | RHO | c.305A>C (p.Tyr102Ser) | |
| 3 | g.129529038A>G | CA354496807 | RHO | c.305A>G (p.Tyr102Cys) | gnomAD v4 |
| 3 | g.129529038A>T | CA354496805 | RHO | c.305A>T (p.Tyr102Phe) | |
| 3 | g.129529039C>A | CA354496810 | RHO | c.306C>A (p.Tyr102Ter) | gnomAD v4 |
| 3 | g.129529039C= | CA1401206026 | RHO | c.306C= (p.Tyr102=) | |
| 3 | g.129529039C>G | CA354496812 | RHO | c.306C>G (p.Tyr102Ter) | ClinVar dbSNP |
| 3 | g.129529039C>T | CA435768772 | RHO | c.306C>T (p.Tyr102=) | |
| 3 | g.129529040T>A | CA354496816 | RHO | c.307T>A (p.Phe103Ile) | |
| 3 | g.129529040T>C | CA354496817 | RHO | c.307T>C (p.Phe103Leu) | gnomAD v4 |
| 3 | g.129529040T>G | CA82647042 | RHO | c.307T>G (p.Phe103Val) | dbSNP |
| 3 | g.129529040T= | CA1401206031 | RHO | c.307T= (p.Phe103=) | |
| 3 | g.129529041T>A | CA354496821 | RHO | c.308T>A (p.Phe103Tyr) | gnomAD v4 |
| 3 | g.129529041T>C | CA354496823 | RHO | c.308T>C (p.Phe103Ser) | |
| 3 | g.129529041T>G | CA354496825 | RHO | c.308T>G (p.Phe103Cys) | |
| 3 | g.129529042del | CA2667615493 | RHO | c.309del (p.Phe103LeufsTer?) | gnomAD v4 |
| 3 | g.129529042C>A | CA354496826 | RHO | c.309C>A (p.Phe103Leu) | |
| 3 | g.129529042C= | CA1401206035 | RHO | c.309C= (p.Phe103=) | |
| 3 | g.129529042C>G | CA354496828 | RHO | c.309C>G (p.Phe103Leu) | |
| 3 | g.129529042C>T | CA2607106 | RHO | c.309C>T (p.Phe103=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.129529043G>A | CA2607107 | RHO | c.310G>A (p.Val104Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129529043G>C | CA354496835 | RHO | c.310G>C (p.Val104Leu) | |
| 3 | g.129529043G= | CA1401206040 | RHO | c.310G= (p.Val104=) | |
| 3 | g.129529043G>T | CA354496833 | RHO | c.310G>T (p.Val104Phe) | |
| 3 | g.129529044T>A | CA354496838 | RHO | c.311T>A (p.Val104Asp) | |
| 3 | g.129529044T>C | CA354496839 | RHO | c.311T>C (p.Val104Ala) | gnomAD v4 |
| 3 | g.129529044T>G | CA354496841 | RHO | c.311T>G (p.Val104Gly) | |
| 3 | g.129529045C>A | CA435768777 | RHO | c.312C>A (p.Val104=) | |
| 3 | g.129529045C= | CA1401206045 | RHO | c.312C= (p.Val104=) | |
| 3 | g.129529045C>G | CA435768779 | RHO | c.312C>G (p.Val104=) | gnomAD v4 |
| 3 | g.129529045C>T | CA2607108 | RHO | c.312C>T (p.Val104=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129529046T>A | CA354496843 | RHO | c.313T>A (p.Phe105Ile) | |
| 3 | g.129529046T>C | CA354496844 | RHO | c.313T>C (p.Phe105Leu) | |
| 3 | g.129529046T>G | CA354496846 | RHO | c.313T>G (p.Phe105Val) | |
| 3 | g.129529047T>A | CA354496849 | RHO | c.314T>A (p.Phe105Tyr) | |
| 3 | g.129529047T>C | CA354496851 | RHO | c.314T>C (p.Phe105Ser) | |
| 3 | g.129529047T>G | CA354496853 | RHO | c.314T>G (p.Phe105Cys) | |
| 3 | g.129529048C>A | CA354496855 | RHO | c.315C>A (p.Phe105Leu) | |
| 3 | g.129529048C= | CA1401206049 | RHO | c.315C= (p.Phe105=) | |
| 3 | g.129529048C>G | CA354496857 | RHO | c.315C>G (p.Phe105Leu) | |
| 3 | g.129529048C>T | CA2607109 | RHO | c.315C>T (p.Phe105=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.129529049G>A | CA256683 | RHO | c.316G>A (p.Gly106Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129529049G>C | CA354496864 | RHO | c.316G>C (p.Gly106Arg) | ClinVar dbSNP |
| 3 | g.129529049G= | CA1401206060 | RHO | c.316G= (p.Gly106=) | |
| 3 | g.129529049G>T | CA256669 | RHO | c.316G>T (p.Gly106Trp) | ClinVar dbSNP |
| 3 | g.129529050G>A | CA354496865 | RHO | c.317G>A (p.Gly106Glu) | |
| 3 | g.129529050G>C | CA354496868 | RHO | c.317G>C (p.Gly106Ala) | ClinVar dbSNP |
| 3 | g.129529050G= | CA1401206080 | RHO | c.317G= (p.Gly106=) | |
| 3 | g.129529050G>T | CA354496869 | RHO | c.317G>T (p.Gly106Val) | ClinVar dbSNP |
| 3 | g.129529051G>A | CA435768785 | RHO | c.318G>A (p.Gly106=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129529051G>C | CA435768787 | RHO | c.318G>C (p.Gly106=) | |
| 3 | g.129529051G= | CA1401206085 | RHO | c.318G= (p.Gly106=) | |
| 3 | g.129529051G>T | CA435768788 | RHO | c.318G>T (p.Gly106=) | dbSNP gnomAD v4 |
| 3 | g.129529052C>A | CA354496870 | RHO | c.319C>A (p.Pro107Thr) | |
| 3 | g.129529052C= | CA1401206094 | RHO | c.319C= (p.Pro107=) | |
| 3 | g.129529052C>G | CA354496872 | RHO | c.319C>G (p.Pro107Ala) | |
| 3 | g.129529052C>T | CA354496873 | RHO | c.319C>T (p.Pro107Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129529054dup | CA2667615538 | RHO | c.321dup (p.Thr108HisfsTer15) | gnomAD v4 |
| 3 | g.129529053C>A | CA2607110 | RHO | c.320C>A (p.Pro107His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129529053C= | CA1401206099 | RHO | c.320C= (p.Pro107=) | |
| 3 | g.129529053C>G | CA354496878 | RHO | c.320C>G (p.Pro107Arg) | |
| 3 | g.129529053C>T | CA354496880 | RHO | c.320C>T (p.Pro107Leu) | |
| 3 | g.129529054C>A | CA2607111 | RHO | c.321C>A (p.Pro107=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129529054C= | CA1401206111 | RHO | c.321C= (p.Pro107=) | |
| 3 | g.129529054C>G | CA435768792 | RHO | c.321C>G (p.Pro107=) | |
| 3 | g.129529054C>T | CA435768794 | RHO | c.321C>T (p.Pro107=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129529055A= | CA1401206122 | RHO | c.322A= (p.Thr108=) | |
| 3 | g.129529055A>C | CA354496888 | RHO | c.322A>C (p.Thr108Pro) | dbSNP |
| 3 | g.129529055A>G | CA354496886 | RHO | c.322A>G (p.Thr108Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129529055A>T | CA354496884 | RHO | c.322A>T (p.Thr108Ser) | |
| 3 | g.129529055dup | CA2607112 | RHO | c.322dup (p.Thr108AsnfsTer15) | dbSNP ExAC gnomAD v2 |
| 3 | g.129529056C>A | CA354496894 | RHO | c.323C>A (p.Thr108Lys) | |
| 3 | g.129529056C= | CA1401206130 | RHO | c.323C= (p.Thr108=) | |
| 3 | g.129529056C>G | CA354496892 | RHO | c.323C>G (p.Thr108Arg) | |
| 3 | g.129529056C>T | CA354496895 | RHO | c.323C>T (p.Thr108Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129529057A>C | CA435768799 | RHO | c.324A>C (p.Thr108=) | |
| 3 | g.129529057A>G | CA435768801 | RHO | c.324A>G (p.Thr108=) | |
| 3 | g.129529057A>T | CA435768802 | RHO | c.324A>T (p.Thr108=) | |
| 3 | g.129529058G>A | CA354496896 | RHO | c.325G>A (p.Gly109Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129529058G>C | CA354496901 | RHO | c.325G>C (p.Gly109Arg) | |
| 3 | g.129529058G= | CA1401206139 | RHO | c.325G= (p.Gly109=) | |
| 3 | g.129529058G>T | CA354496898 | RHO | c.325G>T (p.Gly109Ter) | dbSNP gnomAD v2 gnomAD v4 |