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 |
|---|---|---|---|---|---|
| 18 | g.59269036_59269058del | CA2812677031 | RAX | c.987_1009del (p.Leu330GlyfsTer?) c.*418_*440del (n.*418_*440del) | |
| 18 | g.59269042G>A | CA402583525 | RAX | c.1003C>T (p.His335Tyr) c.*434C>T (n.*434C>T) | |
| 18 | g.59269042G>C | CA402583527 | RAX | c.1003C>G (p.His335Asp) c.*434C>G (n.*434C>G) | dbSNP |
| 18 | g.59269042G= | CA2306830660 | RAX | c.1003C= (p.His335=) c.*434C= (n.*434C=) | |
| 18 | g.59269042G>T | CA402583529 | RAX | c.1003C>A (p.His335Asn) c.*434C>A (n.*434C>A) | |
| 18 | g.59269043C>A | CA402583531 | RAX | c.1002G>T (p.Glu334Asp) c.*433G>T (n.*433G>T) | |
| 18 | g.59269043C= | CA2306830661 | RAX | c.1002G= (p.Glu334=) c.*433G= (n.*433G=) | |
| 18 | g.59269043C>G | CA402583533 | RAX | c.1002G>C (p.Glu334Asp) c.*433G>C (n.*433G>C) | |
| 18 | g.59269043C>T | CA504296825 | RAX | c.1002G>A (p.Glu334=) c.*433G>A (n.*433G>A) | dbSNP |
| 18 | g.59269044T>A | CA402583535 | RAX | c.1001A>T (p.Glu334Val) c.*432A>T (n.*432A>T) | dbSNP gnomAD v2 |
| 18 | g.59269044T>C | CA402583537 | RAX | c.1001A>G (p.Glu334Gly) c.*432A>G (n.*432A>G) | |
| 18 | g.59269044T>G | CA402583539 | RAX | c.1001A>C (p.Glu334Ala) c.*432A>C (n.*432A>C) | |
| 18 | g.59269044T= | CA2306830662 | RAX | c.1001A= (p.Glu334=) c.*432A= (n.*432A=) | |
| 18 | g.59269045C>A | CA402583541 | RAX | c.1000G>T (p.Glu334Ter) c.*431G>T (n.*431G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269045C= | CA2306830663 | RAX | c.1000G= (p.Glu334=) c.*431G= (n.*431G=) | |
| 18 | g.59269045C>G | CA402583543 | RAX | c.1000G>C (p.Glu334Gln) c.*431G>C (n.*431G>C) | |
| 18 | g.59269045C>T | CA402583545 | RAX | c.1000G>A (p.Glu334Lys) c.*431G>A (n.*431G>A) | |
| 18 | g.59269046C>A | CA402583548 | RAX | c.999G>T (p.Lys333Asn) c.*430G>T (n.*430G>T) | |
| 18 | g.59269046C= | CA2306830664 | RAX | c.999G= (p.Lys333=) c.*430G= (n.*430G=) | |
| 18 | g.59269046C>G | CA402583549 | RAX | c.999G>C (p.Lys333Asn) c.*430G>C (n.*430G>C) | dbSNP gnomAD v4 |
| 18 | g.59269046C>T | CA504296826 | RAX | c.999G>A (p.Lys333=) c.*430G>A (n.*430G>A) | gnomAD v4 |
| 18 | g.59269047T>A | CA402583552 | RAX | c.998A>T (p.Lys333Met) c.*429A>T (n.*429A>T) | |
| 18 | g.59269047T>C | CA300981007 | RAX | c.998A>G (p.Lys333Arg) c.*429A>G (n.*429A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269047T>G | CA402583550 | RAX | c.998A>C (p.Lys333Thr) c.*429A>C (n.*429A>C) | |
| 18 | g.59269047T= | CA2306830665 | RAX | c.998A= (p.Lys333=) c.*429A= (n.*429A=) | |
| 18 | g.59269048T>A | CA402583554 | RAX | c.997A>T (p.Lys333Ter) c.*428A>T (n.*428A>T) | |
| 18 | g.59269048T>C | CA402583556 | RAX | c.997A>G (p.Lys333Glu) c.*428A>G (n.*428A>G) | |
| 18 | g.59269048T>G | CA402583558 | RAX | c.997A>C (p.Lys333Gln) c.*428A>C (n.*428A>C) | |
| 18 | g.59269049G>A | CA504296827 | RAX | c.996C>T (p.Ala332=) c.*427C>T (n.*427C>T) | |
| 18 | g.59269049G>C | CA504296828 | RAX | c.996C>G (p.Ala332=) c.*427C>G (n.*427C>G) | |
| 18 | g.59269049G>T | CA504296829 | RAX | c.996C>A (p.Ala332=) c.*427C>A (n.*427C>A) | |
| 18 | g.59269050G>A | CA402583560 | RAX | c.995C>T (p.Ala332Val) c.*426C>T (n.*426C>T) | gnomAD v4 |
| 18 | g.59269050G>C | CA402583562 | RAX | c.995C>G (p.Ala332Gly) c.*426C>G (n.*426C>G) | |
| 18 | g.59269050G= | CA2306830666 | RAX | c.995C= (p.Ala332=) c.*426C= (n.*426C=) | |
| 18 | g.59269050G>T | CA8979220 | RAX | c.995C>A (p.Ala332Asp) c.*426C>A (n.*426C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269051C>A | CA402583565 | RAX | c.994G>T (p.Ala332Ser) c.*425G>T (n.*425G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269051C= | CA2306830667 | RAX | c.994G= (p.Ala332=) c.*425G= (n.*425G=) | |
| 18 | g.59269051C>G | CA402583567 | RAX | c.994G>C (p.Ala332Pro) c.*425G>C (n.*425G>C) | |
| 18 | g.59269051C>T | CA402583569 | RAX | c.994G>A (p.Ala332Thr) c.*425G>A (n.*425G>A) | |
| 18 | g.59269052T>A | CA402583571 | RAX | c.993A>T (p.Lys331Asn) c.*424A>T (n.*424A>T) | |
| 18 | g.59269052T>C | CA504296830 | RAX | c.993A>G (p.Lys331=) c.*424A>G (n.*424A>G) | |
| 18 | g.59269052T>G | CA402583573 | RAX | c.993A>C (p.Lys331Asn) c.*424A>C (n.*424A>C) | |
| 18 | g.59269053T>A | CA402583576 | RAX | c.992A>T (p.Lys331Ile) c.*423A>T (n.*423A>T) | |
| 18 | g.59269053T>C | CA402583578 | RAX | c.992A>G (p.Lys331Arg) c.*423A>G (n.*423A>G) | |
| 18 | g.59269053T>G | CA402583580 | RAX | c.992A>C (p.Lys331Thr) c.*423A>C (n.*423A>C) | |
| 18 | g.59269054T>A | CA402583584 | RAX | c.991A>T (p.Lys331Ter) c.*422A>T (n.*422A>T) | gnomAD v4 |
| 18 | g.59269054T>C | CA402583586 | RAX | c.991A>G (p.Lys331Glu) c.*422A>G (n.*422A>G) | |
| 18 | g.59269054T>G | CA402583582 | RAX | c.991A>C (p.Lys331Gln) c.*422A>C (n.*422A>C) | |
| 18 | g.59269055C>A | CA504296834 | RAX | c.990G>T (p.Leu330=) c.*421G>T (n.*421G>T) | |
| 18 | g.59269055C= | CA2306830668 | RAX | c.990G= (p.Leu330=) c.*421G= (n.*421G=) | |
| 18 | g.59269055C>G | CA8979221 | RAX | c.990G>C (p.Leu330=) c.*421G>C (n.*421G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269055C>T | CA504296833 | RAX | c.990G>A (p.Leu330=) c.*421G>A (n.*421G>A) | |
| 18 | g.59269056A>C | CA402583588 | RAX | c.989T>G (p.Leu330Arg) c.*420T>G (n.*420T>G) | |
| 18 | g.59269056A>G | CA402583589 | RAX | c.989T>C (p.Leu330Pro) c.*420T>C (n.*420T>C) | |
| 18 | g.59269056A>T | CA402583590 | RAX | c.989T>A (p.Leu330Gln) c.*420T>A (n.*420T>A) | |
| 18 | g.59269057G>A | CA300981020 | RAX | c.988C>T (p.Leu330=) c.*419C>T (n.*419C>T) | dbSNP |
| 18 | g.59269057G>C | CA402583593 | RAX | c.988C>G (p.Leu330Val) c.*419C>G (n.*419C>G) | |
| 18 | g.59269057G= | CA2306830672 | RAX | c.988C= (p.Leu330=) c.*419C= (n.*419C=) | |
| 18 | g.59269057G>T | CA402583595 | RAX | c.988C>A (p.Leu330Met) c.*419C>A (n.*419C>A) | |
| 18 | g.59269058A>C | CA504296835 | RAX | c.987T>G (p.Arg329=) c.*418T>G (n.*418T>G) | |
| 18 | g.59269058A>G | CA504296836 | RAX | c.987T>C (p.Arg329=) c.*418T>C (n.*418T>C) | |
| 18 | g.59269058A>T | CA504296837 | RAX | c.987T>A (p.Arg329=) c.*418T>A (n.*418T>A) | |
| 18 | g.59269059C>A | CA402583597 | RAX | c.986G>T (p.Arg329Leu) c.*417G>T (n.*417G>T) | dbSNP COSMIC |
| 18 | g.59269059C= | CA2306830674 | RAX | c.986G= (p.Arg329=) c.*417G= (n.*417G=) | |
| 18 | g.59269059C>G | CA402583599 | RAX | c.986G>C (p.Arg329Pro) c.*417G>C (n.*417G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269059C>T | CA402583600 | RAX | c.986G>A (p.Arg329His) c.*417G>A (n.*417G>A) | |
| 18 | g.59269060G>A | CA402583601 | RAX | c.985C>T (p.Arg329Cys) c.*416C>T (n.*416C>T) | COSMIC |
| 18 | g.59269060G>C | CA402583602 | RAX | c.985C>G (p.Arg329Gly) c.*416C>G (n.*416C>G) | |
| 18 | g.59269060G>T | CA402583604 | RAX | c.985C>A (p.Arg329Ser) c.*416C>A (n.*416C>A) | |
| 18 | g.59269061C>A | CA504296838 | RAX | c.984G>T (p.Leu328=) c.*415G>T (n.*415G>T) | gnomAD v4 |
| 18 | g.59269061C>G | CA504296840 | RAX | c.984G>C (p.Leu328=) c.*415G>C (n.*415G>C) | |
| 18 | g.59269061C>T | CA504296839 | RAX | c.984G>A (p.Leu328=) c.*415G>A (n.*415G>A) | |
| 18 | g.59269062A= | CA2306830676 | RAX | c.983T= (p.Leu328=) c.*414T= (n.*414T=) | |
| 18 | g.59269062A>C | CA402583609 | RAX | c.983T>G (p.Leu328Arg) c.*414T>G (n.*414T>G) | gnomAD v4 |
| 18 | g.59269062A>G | CA402583606 | RAX | c.983T>C (p.Leu328Pro) c.*414T>C (n.*414T>C) | |
| 18 | g.59269062A>T | CA8979222 | RAX | c.983T>A (p.Leu328Gln) c.*414T>A (n.*414T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.59269063G>A | CA504296842 | RAX | c.982C>T (p.Leu328=) c.*413C>T (n.*413C>T) | |
| 18 | g.59269063G>C | CA402583612 | RAX | c.982C>G (p.Leu328Val) c.*413C>G (n.*413C>G) | |
| 18 | g.59269063G>T | CA402583613 | RAX | c.982C>A (p.Leu328Met) c.*413C>A (n.*413C>A) | |
| 18 | g.59269064C>A | CA504296843 | RAX | c.981G>T (p.Ala327=) c.*412G>T (n.*412G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269064C= | CA2306830678 | RAX | c.981G= (p.Ala327=) c.*412G= (n.*412G=) | |
| 18 | g.59269064C>G | CA504296844 | RAX | c.981G>C (p.Ala327=) c.*412G>C (n.*412G>C) | |
| 18 | g.59269064C>T | CA504296845 | RAX | c.981G>A (p.Ala327=) c.*412G>A (n.*412G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269065G>A | CA402583616 | RAX | c.980C>T (p.Ala327Val) c.*411C>T (n.*411C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.59269065G>C | CA402583618 | RAX | c.980C>G (p.Ala327Gly) c.*411C>G (n.*411C>G) | |
| 18 | g.59269065G= | CA2306830679 | RAX | c.980C= (p.Ala327=) c.*411C= (n.*411C=) | |
| 18 | g.59269065G>T | CA402583620 | RAX | c.980C>A (p.Ala327Glu) c.*411C>A (n.*411C>A) | |
| 18 | g.59269066C>A | CA402583622 | RAX | c.979G>T (p.Ala327Ser) c.*410G>T (n.*410G>T) | |
| 18 | g.59269066C>G | CA402583624 | RAX | c.979G>C (p.Ala327Pro) c.*410G>C (n.*410G>C) | |
| 18 | g.59269066C>T | CA402583625 | RAX | c.979G>A (p.Ala327Thr) c.*410G>A (n.*410G>A) | |
| 18 | g.59269067C>A | CA504296849 | RAX | c.978G>T (p.Ala326=) c.*409G>T (n.*409G>T) | COSMIC |
| 18 | g.59269067C>G | CA504296851 | RAX | c.978G>C (p.Ala326=) c.*409G>C (n.*409G>C) | |
| 18 | g.59269067C>T | CA504296850 | RAX | c.978G>A (p.Ala326=) c.*409G>A (n.*409G>A) | |
| 18 | g.59269068G>A | CA8979223 | RAX | c.977C>T (p.Ala326Val) c.*408C>T (n.*408C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.59269068G>C | CA402583627 | RAX | c.977C>G (p.Ala326Gly) c.*408C>G (n.*408C>G) | |
| 18 | g.59269068G= | CA2306830681 | RAX | c.977C= (p.Ala326=) c.*408C= (n.*408C=) | |
| 18 | g.59269068G>T | CA402583629 | RAX | c.977C>A (p.Ala326Glu) c.*408C>A (n.*408C>A) | |
| 18 | g.59269069C>A | CA402583634 | RAX | c.976G>T (p.Ala326Ser) c.*407G>T (n.*407G>T) | dbSNP gnomAD v4 |
| 18 | g.59269069C= | CA2306830684 | RAX | c.976G= (p.Ala326=) c.*407G= (n.*407G=) | |
| 18 | g.59269069C>G | CA402583633 | RAX | c.976G>C (p.Ala326Pro) c.*407G>C (n.*407G>C) | |
| 18 | g.59269069C>T | CA402583631 | RAX | c.976G>A (p.Ala326Thr) c.*407G>A (n.*407G>A) | |
| 18 | g.59269070G>A | CA504296853 | RAX | c.975C>T (p.Ile325=) c.*406C>T (n.*406C>T) | |
| 18 | g.59269070G>C | CA402583636 | RAX | c.975C>G (p.Ile325Met) c.*406C>G (n.*406C>G) | dbSNP |
| 18 | g.59269070G= | CA2306830686 | RAX | c.975C= (p.Ile325=) c.*406C= (n.*406C=) | |
| 18 | g.59269070G>T | CA504296855 | RAX | c.975C>A (p.Ile325=) c.*406C>A (n.*406C>A) | |
| 18 | g.59269071A>C | CA402583639 | RAX | c.974T>G (p.Ile325Ser) c.*405T>G (n.*405T>G) | |
| 18 | g.59269071A>G | CA402583640 | RAX | c.974T>C (p.Ile325Thr) c.*405T>C (n.*405T>C) | |
| 18 | g.59269071A>T | CA402583641 | RAX | c.974T>A (p.Ile325Asn) c.*405T>A (n.*405T>A) | |
| 18 | g.59269072T>A | CA402583645 | RAX | c.973A>T (p.Ile325Phe) c.*404A>T (n.*404A>T) | gnomAD v4 |
| 18 | g.59269072T>C | CA402583646 | RAX | c.973A>G (p.Ile325Val) c.*404A>G (n.*404A>G) | |
| 18 | g.59269072T>G | CA402583648 | RAX | c.973A>C (p.Ile325Leu) c.*404A>C (n.*404A>C) | |
| 18 | g.59269073G>A | CA8979224 | RAX | c.972C>T (p.Ser324=) c.*403C>T (n.*403C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.59269073G>C | CA402583651 | RAX | c.972C>G (p.Ser324Arg) c.*403C>G (n.*403C>G) | |
| 18 | g.59269073G= | CA2306830689 | RAX | c.972C= (p.Ser324=) c.*403C= (n.*403C=) | |
| 18 | g.59269073G>T | CA402583653 | RAX | c.972C>A (p.Ser324Arg) c.*403C>A (n.*403C>A) | COSMIC |
| 18 | g.59269074C>A | CA402583656 | RAX | c.971G>T (p.Ser324Ile) c.*402G>T (n.*402G>T) | |
| 18 | g.59269074C= | CA2306830691 | RAX | c.971G= (p.Ser324=) c.*402G= (n.*402G=) | |
| 18 | g.59269074C>G | CA402583658 | RAX | c.971G>C (p.Ser324Thr) c.*402G>C (n.*402G>C) | |
| 18 | g.59269074C>T | CA402583660 | RAX | c.971G>A (p.Ser324Asn) c.*402G>A (n.*402G>A) | dbSNP |
| 18 | g.59269076_59269110del | CA2642011310 | RAX | c.937_971del (p.Phe313HisfsTer?) c.*368_*402del (n.*368_*402del) | gnomAD v4 |
| 18 | g.59269075T>A | CA402583666 | RAX | c.970A>T (p.Ser324Cys) c.*401A>T (n.*401A>T) | |
| 18 | g.59269075T>C | CA402583664 | RAX | c.970A>G (p.Ser324Gly) c.*401A>G (n.*401A>G) | |
| 18 | g.59269075T>G | CA402583662 | RAX | c.970A>C (p.Ser324Arg) c.*401A>C (n.*401A>C) | |
| 18 | g.59269076G>A | CA8979225 | RAX | c.969C>T (p.Ser323=) c.*400C>T (n.*400C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269076G>C | CA402583668 | RAX | c.969C>G (p.Ser323Arg) c.*400C>G (n.*400C>G) | |
| 18 | g.59269076G= | CA2306830692 | RAX | c.969C= (p.Ser323=) c.*400C= (n.*400C=) | |
| 18 | g.59269076G>T | CA402583670 | RAX | c.969C>A (p.Ser323Arg) c.*400C>A (n.*400C>A) | |
| 18 | g.59269077C>A | CA402583671 | RAX | c.968G>T (p.Ser323Ile) c.*399G>T (n.*399G>T) | |
| 18 | g.59269077C= | CA2306830694 | RAX | c.968G= (p.Ser323=) c.*399G= (n.*399G=) | |
| 18 | g.59269077C>G | CA402583673 | RAX | c.968G>C (p.Ser323Thr) c.*399G>C (n.*399G>C) | |
| 18 | g.59269077C>T | CA402583675 | RAX | c.968G>A (p.Ser323Asn) c.*399G>A (n.*399G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269078T>A | CA402583677 | RAX | c.967A>T (p.Ser323Cys) c.*398A>T (n.*398A>T) | |
| 18 | g.59269078T>C | CA8979226 | RAX | c.967A>G (p.Ser323Gly) c.*398A>G (n.*398A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269078T>G | CA402583680 | RAX | c.967A>C (p.Ser323Arg) c.*398A>C (n.*398A>C) | |
| 18 | g.59269078T= | CA2306830696 | RAX | c.967A= (p.Ser323=) c.*398A= (n.*398A=) | |
| 18 | g.59269079G>A | CA504296863 | RAX | c.966C>T (p.Asn322=) c.*397C>T (n.*397C>T) | |
| 18 | g.59269079G>C | CA402583683 | RAX | c.966C>G (p.Asn322Lys) c.*397C>G (n.*397C>G) | gnomAD v3 gnomAD v4 |
| 18 | g.59269079G>T | CA402583685 | RAX | c.966C>A (p.Asn322Lys) c.*397C>A (n.*397C>A) | |
| 18 | g.59269080T>A | CA402583687 | RAX | c.965A>T (p.Asn322Ile) c.*396A>T (n.*396A>T) | |
| 18 | g.59269080T>C | CA402583689 | RAX | c.965A>G (p.Asn322Ser) c.*396A>G (n.*396A>G) | |
| 18 | g.59269080T>G | CA402583691 | RAX | c.965A>C (p.Asn322Thr) c.*396A>C (n.*396A>C) | |
| 18 | g.59269081T>A | CA402583695 | RAX | c.964A>T (p.Asn322Tyr) c.*395A>T (n.*395A>T) | |
| 18 | g.59269081T>C | CA402583697 | RAX | c.964A>G (p.Asn322Asp) c.*395A>G (n.*395A>G) | |
| 18 | g.59269081T>G | CA402583693 | RAX | c.964A>C (p.Asn322His) c.*395A>C (n.*395A>C) | |
| 18 | g.59269082G>A | CA504296870 | RAX | c.963C>T (p.Arg321=) c.*394C>T (n.*394C>T) | |
| 18 | g.59269082G>C | CA504296871 | RAX | c.963C>G (p.Arg321=) c.*394C>G (n.*394C>G) | |
| 18 | g.59269082G>T | CA504296873 | RAX | c.963C>A (p.Arg321=) c.*394C>A (n.*394C>A) | |
| 18 | g.59269082dup | CA2642011311 | RAX | c.963dup (p.Asn322GlnfsTer?) c.*394dup (n.*394dup) | gnomAD v4 |
| 18 | g.59269083C>A | CA402583700 | RAX | c.962G>T (p.Arg321Leu) c.*393G>T (n.*393G>T) | gnomAD v4 |
| 18 | g.59269083C= | CA2306830697 | RAX | c.962G= (p.Arg321=) c.*393G= (n.*393G=) | |
| 18 | g.59269083C>G | CA402583701 | RAX | c.962G>C (p.Arg321Pro) c.*393G>C (n.*393G>C) | gnomAD v4 |
| 18 | g.59269083C>T | CA8979227 | RAX | c.962G>A (p.Arg321His) c.*393G>A (n.*393G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269084G>A | CA8979228 | RAX | c.961C>T (p.Arg321Cys) c.*392C>T (n.*392C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269084G>C | CA402583706 | RAX | c.961C>G (p.Arg321Gly) c.*392C>G (n.*392C>G) | |
| 18 | g.59269084G= | CA2306830699 | RAX | c.961C= (p.Arg321=) c.*392C= (n.*392C=) | |
| 18 | g.59269084G>T | CA402583708 | RAX | c.961C>A (p.Arg321Ser) c.*392C>A (n.*392C>A) | |
| 18 | g.59269085C>A | CA504296877 | RAX | c.960G>T (p.Pro320=) c.*391G>T (n.*391G>T) | |
| 18 | g.59269085C>G | CA504296879 | RAX | c.960G>C (p.Pro320=) c.*391G>C (n.*391G>C) | gnomAD v4 |
| 18 | g.59269085C>T | CA504296881 | RAX | c.960G>A (p.Pro320=) c.*391G>A (n.*391G>A) | gnomAD v4 |
| 18 | g.59269086G>A | CA8979229 | RAX | c.959C>T (p.Pro320Leu) c.*390C>T (n.*390C>T) | dbSNP ExAC gnomAD v2 |
| 18 | g.59269086G>C | CA402583710 | RAX | c.959C>G (p.Pro320Arg) c.*390C>G (n.*390C>G) | |
| 18 | g.59269086G= | CA2306830701 | RAX | c.959C= (p.Pro320=) c.*390C= (n.*390C=) | |
| 18 | g.59269086G>T | CA8979230 | RAX | c.959C>A (p.Pro320Gln) c.*390C>A (n.*390C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269087G>A | CA8979231 | RAX | c.958C>T (p.Pro320Ser) c.*389C>T (n.*389C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.59269087G>C | CA402583714 | RAX | c.958C>G (p.Pro320Ala) c.*389C>G (n.*389C>G) | |
| 18 | g.59269087G= | CA2306830703 | RAX | c.958C= (p.Pro320=) c.*389C= (n.*389C=) | |
| 18 | g.59269087G>T | CA402583716 | RAX | c.958C>A (p.Pro320Thr) c.*389C>A (n.*389C>A) | |
| 18 | g.59269088G>A | CA504296886 | RAX | c.957C>T (p.Asp319=) c.*388C>T (n.*388C>T) | |
| 18 | g.59269088G>C | CA402583718 | RAX | c.957C>G (p.Asp319Glu) c.*388C>G (n.*388C>G) | |
| 18 | g.59269088G>T | CA402583724 | RAX | c.957C>A (p.Asp319Glu) c.*388C>A (n.*388C>A) | |
| 18 | g.59269089T>A | CA402583726 | RAX | c.956A>T (p.Asp319Val) c.*387A>T (n.*387A>T) | |
| 18 | g.59269089T>C | CA402583730 | RAX | c.956A>G (p.Asp319Gly) c.*387A>G (n.*387A>G) | |
| 18 | g.59269089T>G | CA402583728 | RAX | c.956A>C (p.Asp319Ala) c.*387A>C (n.*387A>C) | |
| 18 | g.59269090C>A | CA402583731 | RAX | c.955G>T (p.Asp319Tyr) c.*386G>T (n.*386G>T) | |
| 18 | g.59269090C= | CA2306830705 | RAX | c.955G= (p.Asp319=) c.*386G= (n.*386G=) | |
| 18 | g.59269090C>G | CA402583733 | RAX | c.955G>C (p.Asp319His) c.*386G>C (n.*386G>C) | |
| 18 | g.59269090C>T | CA402583735 | RAX | c.955G>A (p.Asp319Asn) c.*386G>A (n.*386G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269091C>A | CA504296893 | RAX | c.954G>T (p.Ala318=) c.*385G>T (n.*385G>T) | gnomAD v4 |
| 18 | g.59269091C= | CA2306830707 | RAX | c.954G= (p.Ala318=) c.*385G= (n.*385G=) | |
| 18 | g.59269091C>G | CA504296895 | RAX | c.954G>C (p.Ala318=) c.*385G>C (n.*385G>C) | dbSNP |
| 18 | g.59269091C>T | CA504296897 | RAX | c.954G>A (p.Ala318=) c.*385G>A (n.*385G>A) | gnomAD v4 |
| 18 | g.59269092G>A | CA402583736 | RAX | c.953C>T (p.Ala318Val) c.*384C>T (n.*384C>T) | gnomAD v4 |
| 18 | g.59269092G>C | CA402583738 | RAX | c.953C>G (p.Ala318Gly) c.*384C>G (n.*384C>G) | gnomAD v4 |
| 18 | g.59269092G>T | CA402583740 | RAX | c.953C>A (p.Ala318Glu) c.*384C>A (n.*384C>A) | gnomAD v4 |
| 18 | g.59269093C>A | CA402583743 | RAX | c.952G>T (p.Ala318Ser) c.*383G>T (n.*383G>T) | |
| 18 | g.59269093C>G | CA402583744 | RAX | c.952G>C (p.Ala318Pro) c.*383G>C (n.*383G>C) | |
| 18 | g.59269093C>T | CA402583746 | RAX | c.952G>A (p.Ala318Thr) c.*383G>A (n.*383G>A) | |
| 18 | g.59269094C>A | CA402583749 | RAX | c.951G>T (p.Glu317Asp) c.*382G>T (n.*382G>T) | |
| 18 | g.59269094C= | CA2306830709 | RAX | c.951G= (p.Glu317=) c.*382G= (n.*382G=) | |
| 18 | g.59269094C>G | CA402583750 | RAX | c.951G>C (p.Glu317Asp) c.*382G>C (n.*382G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269094C>T | CA504296899 | RAX | c.951G>A (p.Glu317=) c.*382G>A (n.*382G>A) | |
| 18 | g.59269095T>A | CA402583755 | RAX | c.950A>T (p.Glu317Val) c.*381A>T (n.*381A>T) | |
| 18 | g.59269095T>C | CA402583757 | RAX | c.950A>G (p.Glu317Gly) c.*381A>G (n.*381A>G) | |
| 18 | g.59269095T>G | CA402583753 | RAX | c.950A>C (p.Glu317Ala) c.*381A>C (n.*381A>C) | |
| 18 | g.59269096C>A | CA402583759 | RAX | c.949G>T (p.Glu317Ter) c.*380G>T (n.*380G>T) | gnomAD v4 |
| 18 | g.59269096C= | CA2306830710 | RAX | c.949G= (p.Glu317=) c.*380G= (n.*380G=) | |
| 18 | g.59269096C>G | CA402583762 | RAX | c.949G>C (p.Glu317Gln) c.*380G>C (n.*380G>C) | dbSNP gnomAD v4 |
| 18 | g.59269096C>T | CA8979232 | RAX | c.949G>A (p.Glu317Lys) c.*380G>A (n.*380G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269097G>A | CA504296907 | RAX | c.948C>T (p.Asp316=) c.*379C>T (n.*379C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269097G>C | CA402583767 | RAX | c.948C>G (p.Asp316Glu) c.*379C>G (n.*379C>G) | dbSNP |
| 18 | g.59269097G= | CA2306830712 | RAX | c.948C= (p.Asp316=) c.*379C= (n.*379C=) | |
| 18 | g.59269097G>T | CA402583769 | RAX | c.948C>A (p.Asp316Glu) c.*379C>A (n.*379C>A) | |
| 18 | g.59269098T>A | CA402583771 | RAX | c.947A>T (p.Asp316Val) c.*378A>T (n.*378A>T) | |
| 18 | g.59269098T>C | CA402583773 | RAX | c.947A>G (p.Asp316Gly) c.*378A>G (n.*378A>G) | |
| 18 | g.59269098T>G | CA402583775 | RAX | c.947A>C (p.Asp316Ala) c.*378A>C (n.*378A>C) | |
| 18 | g.59269099C>A | CA402583777 | RAX | c.946G>T (p.Asp316Tyr) c.*377G>T (n.*377G>T) | |
| 18 | g.59269099C= | CA2306830715 | RAX | c.946G= (p.Asp316=) c.*377G= (n.*377G=) | |
| 18 | g.59269099C>G | CA8979233 | RAX | c.946G>C (p.Asp316His) c.*377G>C (n.*377G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269099C>T | CA402583781 | RAX | c.946G>A (p.Asp316Asn) c.*377G>A (n.*377G>A) | |
| 18 | g.59269100C>A | CA504296913 | RAX | c.945G>T (p.Leu315=) c.*376G>T (n.*376G>T) | |
| 18 | g.59269100C= | CA2306830717 | RAX | c.945G= (p.Leu315=) c.*376G= (n.*376G=) | |
| 18 | g.59269100C>G | CA504296914 | RAX | c.945G>C (p.Leu315=) c.*376G>C (n.*376G>C) | |
| 18 | g.59269100C>T | CA504296916 | RAX | c.945G>A (p.Leu315=) c.*376G>A (n.*376G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.59269101A>C | CA402583782 | RAX | c.944T>G (p.Leu315Arg) c.*375T>G (n.*375T>G) | |
| 18 | g.59269101A>G | CA402583783 | RAX | c.944T>C (p.Leu315Pro) c.*375T>C (n.*375T>C) | gnomAD v4 |
| 18 | g.59269101A>T | CA402583785 | RAX | c.944T>A (p.Leu315Gln) c.*375T>A (n.*375T>A) | |
| 18 | g.59269102G>A | CA504296923 | RAX | c.943C>T (p.Leu315=) c.*374C>T (n.*374C>T) | |
| 18 | g.59269102G>C | CA402583787 | RAX | c.943C>G (p.Leu315Val) c.*374C>G (n.*374C>G) | |
| 18 | g.59269102G>T | CA402583789 | RAX | c.943C>A (p.Leu315Met) c.*374C>A (n.*374C>A) | |
| 18 | g.59269103C>A | CA8979235 | RAX | c.942G>T (p.Pro314=) c.*373G>T (n.*373G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269103C= | CA2306830719 | RAX | c.942G= (p.Pro314=) c.*373G= (n.*373G=) | |
| 18 | g.59269103C>G | CA8979234 | RAX | c.942G>C (p.Pro314=) c.*373G>C (n.*373G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.59269103C>T | CA504296929 | RAX | c.942G>A (p.Pro314=) c.*373G>A (n.*373G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269104G>A | CA8979236 | RAX | c.941C>T (p.Pro314Leu) c.*372C>T (n.*372C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.59269104G>C | CA402583797 | RAX | c.941C>G (p.Pro314Arg) c.*372C>G (n.*372C>G) | |
| 18 | g.59269104G= | CA2306830721 | RAX | c.941C= (p.Pro314=) c.*372C= (n.*372C=) | |
| 18 | g.59269104G>T | CA402583794 | RAX | c.941C>A (p.Pro314Gln) c.*372C>A (n.*372C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269105G>A | CA402583799 | RAX | c.940C>T (p.Pro314Ser) c.*371C>T (n.*371C>T) | |
| 18 | g.59269105G>C | CA402583800 | RAX | c.940C>G (p.Pro314Ala) c.*371C>G (n.*371C>G) | |
| 18 | g.59269105G>T | CA402583802 | RAX | c.940C>A (p.Pro314Thr) c.*371C>A (n.*371C>A) | |
| 18 | g.59269106G>A | CA504296930 | RAX | c.939C>T (p.Phe313=) c.*370C>T (n.*370C>T) | gnomAD v4 |
| 18 | g.59269106G>C | CA402583803 | RAX | c.939C>G (p.Phe313Leu) c.*370C>G (n.*370C>G) | dbSNP gnomAD v4 |
| 18 | g.59269106G= | CA2306830723 | RAX | c.939C= (p.Phe313=) c.*370C= (n.*370C=) | |
| 18 | g.59269106G>T | CA402583804 | RAX | c.939C>A (p.Phe313Leu) c.*370C>A (n.*370C>A) | gnomAD v4 |
| 18 | g.59269107A>C | CA402583806 | RAX | c.938T>G (p.Phe313Cys) c.*369T>G (n.*369T>G) | |
| 18 | g.59269107A>G | CA402583807 | RAX | c.938T>C (p.Phe313Ser) c.*369T>C (n.*369T>C) | |
| 18 | g.59269107A>T | CA402583808 | RAX | c.938T>A (p.Phe313Tyr) c.*369T>A (n.*369T>A) | |
| 18 | g.59269108A>C | CA402583809 | RAX | c.937T>G (p.Phe313Val) c.*368T>G (n.*368T>G) | |
| 18 | g.59269108A>G | CA402583811 | RAX | c.937T>C (p.Phe313Leu) c.*368T>C (n.*368T>C) | |
| 18 | g.59269108A>T | CA402583812 | RAX | c.937T>A (p.Phe313Ile) c.*368T>A (n.*368T>A) | |
| 18 | g.59269109C>A | CA402583816 | RAX | c.936G>T (p.Lys312Asn) c.*367G>T (n.*367G>T) | gnomAD v4 |
| 18 | g.59269109C>G | CA402583817 | RAX | c.936G>C (p.Lys312Asn) c.*367G>C (n.*367G>C) | gnomAD v4 |
| 18 | g.59269109C>T | CA504296938 | RAX | c.936G>A (p.Lys312=) c.*367G>A (n.*367G>A) | |
| 18 | g.59269110T>A | CA300981101 | RAX | c.935A>T (p.Lys312Met) c.*366A>T (n.*366A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269110T>C | CA402583823 | RAX | c.935A>G (p.Lys312Arg) c.*366A>G (n.*366A>G) | |
| 18 | g.59269110T>G | CA402583820 | RAX | c.935A>C (p.Lys312Thr) c.*366A>C (n.*366A>C) | COSMIC |
| 18 | g.59269110T= | CA2306830725 | RAX | c.935A= (p.Lys312=) c.*366A= (n.*366A=) | |
| 18 | g.59269111T>A | CA402583825 | RAX | c.934A>T (p.Lys312Ter) c.*365A>T (n.*365A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269111T>C | CA402583827 | RAX | c.934A>G (p.Lys312Glu) c.*365A>G (n.*365A>G) | gnomAD v4 |
| 18 | g.59269111T>G | CA402583829 | RAX | c.934A>C (p.Lys312Gln) c.*365A>C (n.*365A>C) | |
| 18 | g.59269111T= | CA2306830727 | RAX | c.934A= (p.Lys312=) c.*365A= (n.*365A=) | |
| 18 | g.59269112G>A | CA504296945 | RAX | c.933C>T (p.Asp311=) c.*364C>T (n.*364C>T) | |
| 18 | g.59269112G>C | CA402583831 | RAX | c.933C>G (p.Asp311Glu) c.*364C>G (n.*364C>G) | |
| 18 | g.59269112G>T | CA402583832 | RAX | c.933C>A (p.Asp311Glu) c.*364C>A (n.*364C>A) | |
| 18 | g.59269113del | CA2642011312 | RAX | c.932del (p.Asp311AlafsTer20) c.*363del (n.*363del) | gnomAD v4 |
| 18 | g.59269113T>A | CA402583833 | RAX | c.932A>T (p.Asp311Val) c.*363A>T (n.*363A>T) | |
| 18 | g.59269113T>C | CA8979237 | RAX | c.932A>G (p.Asp311Gly) c.*363A>G (n.*363A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269113T>G | CA402583836 | RAX | c.932A>C (p.Asp311Ala) c.*363A>C (n.*363A>C) | |
| 18 | g.59269113T= | CA2306830730 | RAX | c.932A= (p.Asp311=) c.*363A= (n.*363A=) | |
| 18 | g.59269114C>A | CA402583839 | RAX | c.931G>T (p.Asp311Tyr) c.*362G>T (n.*362G>T) | gnomAD v4 |
| 18 | g.59269114C>G | CA402583841 | RAX | c.931G>C (p.Asp311His) c.*362G>C (n.*362G>C) | |
| 18 | g.59269114C>T | CA402583843 | RAX | c.931G>A (p.Asp311Asn) c.*362G>A (n.*362G>A) | |
| 18 | g.59269115C>A | CA504296949 | RAX | c.930G>T (p.Gly310=) c.*361G>T (n.*361G>T) | |
| 18 | g.59269115C= | CA2306830732 | RAX | c.930G= (p.Gly310=) c.*361G= (n.*361G=) | |
| 18 | g.59269115C>G | CA504296953 | RAX | c.930G>C (p.Gly310=) c.*361G>C (n.*361G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269115C>T | CA504296956 | RAX | c.930G>A (p.Gly310=) c.*361G>A (n.*361G>A) | dbSNP gnomAD v4 |
| 18 | g.59269116C>A | CA402583850 | RAX | c.929G>T (p.Gly310Val) c.*360G>T (n.*360G>T) | |
| 18 | g.59269116C= | CA2306830734 | RAX | c.929G= (p.Gly310=) c.*360G= (n.*360G=) | |
| 18 | g.59269116C>G | CA402583846 | RAX | c.929G>C (p.Gly310Ala) c.*360G>C (n.*360G>C) | dbSNP gnomAD v4 |
| 18 | g.59269116C>T | CA402583845 | RAX | c.929G>A (p.Gly310Glu) c.*360G>A (n.*360G>A) | |
| 18 | g.59269117C>A | CA300981120 | RAX | c.928G>T (p.Gly310Trp) c.*359G>T (n.*359G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269117C= | CA2306830735 | RAX | c.928G= (p.Gly310=) c.*359G= (n.*359G=) | |
| 18 | g.59269117C>G | CA8979239 | RAX | c.928G>C (p.Gly310Arg) c.*359G>C (n.*359G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269117C>T | CA8979238 | RAX | c.928G>A (p.Gly310Arg) c.*359G>A (n.*359G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269118G>A | CA504296964 | RAX | c.927C>T (p.Phe309=) c.*358C>T (n.*358C>T) | |
| 18 | g.59269118G>C | CA402583855 | RAX | c.927C>G (p.Phe309Leu) c.*358C>G (n.*358C>G) | |
| 18 | g.59269118G>T | CA402583857 | RAX | c.927C>A (p.Phe309Leu) c.*358C>A (n.*358C>A) | |
| 18 | g.59269119A>C | CA402583859 | RAX | c.926T>G (p.Phe309Cys) c.*357T>G (n.*357T>G) | |
| 18 | g.59269119A>G | CA402583861 | RAX | c.926T>C (p.Phe309Ser) c.*357T>C (n.*357T>C) | |
| 18 | g.59269119A>T | CA402583864 | RAX | c.926T>A (p.Phe309Tyr) c.*357T>A (n.*357T>A) | gnomAD v4 |
| 18 | g.59269120A= | CA2306830736 | RAX | c.925T= (p.Phe309=) c.*356T= (n.*356T=) | |
| 18 | g.59269120A>C | CA402583866 | RAX | c.925T>G (p.Phe309Val) c.*356T>G (n.*356T>G) | |
| 18 | g.59269120A>G | CA402583868 | RAX | c.925T>C (p.Phe309Leu) c.*356T>C (n.*356T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.59269120A>T | CA402583870 | RAX | c.925T>A (p.Phe309Ile) c.*356T>A (n.*356T>A) | |
| 18 | g.59269121G>A | CA504296971 | RAX | c.924C>T (p.Gly308=) c.*355C>T (n.*355C>T) | |
| 18 | g.59269121G>C | CA504296972 | RAX | c.924C>G (p.Gly308=) c.*355C>G (n.*355C>G) | |
| 18 | g.59269121G>T | CA504296974 | RAX | c.924C>A (p.Gly308=) c.*355C>A (n.*355C>A) | gnomAD v4 |
| 18 | g.59269122C>A | CA402583876 | RAX | c.923G>T (p.Gly308Val) c.*354G>T (n.*354G>T) | gnomAD v4 |
| 18 | g.59269122C= | CA2306830737 | RAX | c.923G= (p.Gly308=) c.*354G= (n.*354G=) | |
| 18 | g.59269122C>G | CA402583874 | RAX | c.923G>C (p.Gly308Ala) c.*354G>C (n.*354G>C) | |
| 18 | g.59269122C>T | CA402583872 | RAX | c.923G>A (p.Gly308Asp) c.*354G>A (n.*354G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269123C>A | CA402583879 | RAX | c.922G>T (p.Gly308Cys) c.*353G>T (n.*353G>T) | gnomAD v4 |
| 18 | g.59269123C= | CA2306830739 | RAX | c.922G= (p.Gly308=) c.*353G= (n.*353G=) | |
| 18 | g.59269123C>G | CA402583880 | RAX | c.922G>C (p.Gly308Arg) c.*353G>C (n.*353G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269123C>T | CA8979240 | RAX | c.922G>A (p.Gly308Ser) c.*353G>A (n.*353G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.59269124G>A | CA8979241 | RAX | c.921C>T (p.Pro307=) c.*352C>T (n.*352C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.59269124G>C | CA300981132 | RAX | c.921C>G (p.Pro307=) c.*352C>G (n.*352C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269124G= | CA2306830742 | RAX | c.921C= (p.Pro307=) c.*352C= (n.*352C=) | |
| 18 | g.59269124G>T | CA504296981 | RAX | c.921C>A (p.Pro307=) c.*352C>A (n.*352C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269126del | CA2812677032 | RAX | c.921del (p.Gly308AlafsTer23) c.*352del (n.*352del) | |
| 18 | g.59269125G>A | CA402583885 | RAX | c.920C>T (p.Pro307Leu) c.*351C>T (n.*351C>T) | gnomAD v4 |
| 18 | g.59269125G>C | CA402583886 | RAX | c.920C>G (p.Pro307Arg) c.*351C>G (n.*351C>G) | |
| 18 | g.59269125G>T | CA402583888 | RAX | c.920C>A (p.Pro307His) c.*351C>A (n.*351C>A) | |
| 18 | g.59269126G>A | CA402583890 | RAX | c.919C>T (p.Pro307Ser) c.*350C>T (n.*350C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269126G>C | CA402583896 | RAX | c.919C>G (p.Pro307Ala) c.*350C>G (n.*350C>G) | |
| 18 | g.59269126G= | CA2306830746 | RAX | c.919C= (p.Pro307=) c.*350C= (n.*350C=) | |
| 18 | g.59269126G>T | CA402583898 | RAX | c.919C>A (p.Pro307Thr) c.*350C>A (n.*350C>A) | gnomAD v4 |
| 18 | g.59269127C>A | CA504296989 | RAX | c.918G>T (p.Gly306=) c.*349G>T (n.*349G>T) | gnomAD v4 |
| 18 | g.59269127C>G | CA504296990 | RAX | c.918G>C (p.Gly306=) c.*349G>C (n.*349G>C) | |
| 18 | g.59269127C>T | CA504296991 | RAX | c.918G>A (p.Gly306=) c.*349G>A (n.*349G>A) | |
| 18 | g.59269128C>A | CA8979242 | RAX | c.917G>T (p.Gly306Val) c.*348G>T (n.*348G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269128C= | CA2306830748 | RAX | c.917G= (p.Gly306=) c.*348G= (n.*348G=) | |
| 18 | g.59269128C>G | CA300981133 | RAX | c.917G>C (p.Gly306Ala) c.*348G>C (n.*348G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.59269128C>T | CA402583903 | RAX | c.917G>A (p.Gly306Glu) c.*348G>A (n.*348G>A) | |
| 18 | g.59269129C>A | CA402583909 | RAX | c.916G>T (p.Gly306Trp) c.*347G>T (n.*347G>T) | |
| 18 | g.59269129C= | CA2306830751 | RAX | c.916G= (p.Gly306=) c.*347G= (n.*347G=) | |
| 18 | g.59269129C>G | CA402583907 | RAX | c.916G>C (p.Gly306Arg) c.*347G>C (n.*347G>C) | gnomAD v4 |
| 18 | g.59269129C>T | CA300981140 | RAX | c.916G>A (p.Gly306Arg) c.*347G>A (n.*347G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269130G>A | CA8979243 | RAX | c.915C>T (p.Cys305=) c.*346C>T (n.*346C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269130G>C | CA8979244 | RAX | c.915C>G (p.Cys305Trp) c.*346C>G (n.*346C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269130G= | CA2306830753 | RAX | c.915C= (p.Cys305=) c.*346C= (n.*346C=) | |
| 18 | g.59269130G>T | CA402583913 | RAX | c.915C>A (p.Cys305Ter) c.*346C>A (n.*346C>A) | gnomAD v4 |
| 18 | g.59269131C>A | CA402583916 | RAX | c.914G>T (p.Cys305Phe) c.*345G>T (n.*345G>T) | gnomAD v4 |
| 18 | g.59269131C>G | CA402583918 | RAX | c.914G>C (p.Cys305Ser) c.*345G>C (n.*345G>C) | |
| 18 | g.59269131C>T | CA402583920 | RAX | c.914G>A (p.Cys305Tyr) c.*345G>A (n.*345G>A) | gnomAD v4 |
| 18 | g.59269132A>C | CA402583922 | RAX | c.913T>G (p.Cys305Gly) c.*344T>G (n.*344T>G) | |
| 18 | g.59269132A>G | CA402583924 | RAX | c.913T>C (p.Cys305Arg) c.*344T>C (n.*344T>C) | gnomAD v4 |
| 18 | g.59269132A>T | CA402583926 | RAX | c.913T>A (p.Cys305Ser) c.*344T>A (n.*344T>A) | COSMIC |
| 18 | g.59269133C>A | CA8979245 | RAX | c.912G>T (p.Pro304=) c.*343G>T (n.*343G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269133C= | CA2306830755 | RAX | c.912G= (p.Pro304=) c.*343G= (n.*343G=) | |
| 18 | g.59269133C>G | CA504297006 | RAX | c.912G>C (p.Pro304=) c.*343G>C (n.*343G>C) | gnomAD v4 |
| 18 | g.59269133C>T | CA504297005 | RAX | c.912G>A (p.Pro304=) c.*343G>A (n.*343G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.59269134G>A | CA402583929 | RAX | c.911C>T (p.Pro304Leu) c.*342C>T (n.*342C>T) | dbSNP gnomAD v4 |
| 18 | g.59269134G>C | CA402583931 | RAX | c.911C>G (p.Pro304Arg) c.*342C>G (n.*342C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269134G= | CA2306830758 | RAX | c.911C= (p.Pro304=) c.*342C= (n.*342C=) | |
| 18 | g.59269134G>T | CA402583933 | RAX | c.911C>A (p.Pro304Gln) c.*342C>A (n.*342C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.59269136del | CA630396729 | RAX | c.911del (p.Pro304ArgfsTer27) c.*342del (n.*342del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269135G>A | CA8979246 | RAX | c.910C>T (p.Pro304Ser) c.*341C>T (n.*341C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269135G>C | CA402583937 | RAX | c.910C>G (p.Pro304Ala) c.*341C>G (n.*341C>G) | |
| 18 | g.59269135G= | CA2306830761 | RAX | c.910C= (p.Pro304=) c.*341C= (n.*341C=) | |
| 18 | g.59269135G>T | CA300981193 | RAX | c.910C>A (p.Pro304Thr) c.*341C>A (n.*341C>A) | dbSNP gnomAD v4 |
| 18 | g.59269136G>A | CA504297012 | RAX | c.909C>T (p.Tyr303=) c.*340C>T (n.*340C>T) | |
| 18 | g.59269136G>C | CA118941 | RAX | c.909C>G (p.Tyr303Ter) c.*340C>G (n.*340C>G) | ClinVar dbSNP |
| 18 | g.59269136G= | CA2306830764 | RAX | c.909C= (p.Tyr303=) c.*340C= (n.*340C=) | |
| 18 | g.59269136G>T | CA402583940 | RAX | c.909C>A (p.Tyr303Ter) c.*340C>A (n.*340C>A) | gnomAD v4 |
| 18 | g.59269137T>A | CA402583943 | RAX | c.908A>T (p.Tyr303Phe) c.*339A>T (n.*339A>T) | |
| 18 | g.59269137T>C | CA402583944 | RAX | c.908A>G (p.Tyr303Cys) c.*339A>G (n.*339A>G) | |
| 18 | g.59269137T>G | CA402583947 | RAX | c.908A>C (p.Tyr303Ser) c.*339A>C (n.*339A>C) | |
| 18 | g.59269138A>C | CA402583949 | RAX | c.907T>G (p.Tyr303Asp) c.*338T>G (n.*338T>G) | |
| 18 | g.59269138A>G | CA402583951 | RAX | c.907T>C (p.Tyr303His) c.*338T>C (n.*338T>C) | |
| 18 | g.59269138A>T | CA402583953 | RAX | c.907T>A (p.Tyr303Asn) c.*338T>A (n.*338T>A) | |
| 18 | g.59269138_59269141dup | CA2642011313 | RAX | c.904_907dup (p.Tyr303PhefsTer?) c.*335_*338dup (n.*335_*338dup) | gnomAD v4 |
| 18 | g.59269139G>A | CA504297018 | RAX | c.906C>T (p.Ser302=) c.*337C>T (n.*337C>T) | |
| 18 | g.59269139G>C | CA504297019 | RAX | c.906C>G (p.Ser302=) c.*337C>G (n.*337C>G) | |
| 18 | g.59269139G>T | CA504297020 | RAX | c.906C>A (p.Ser302=) c.*337C>A (n.*337C>A) | gnomAD v4 |
| 18 | g.59269140G>A | CA402583955 | RAX | c.905C>T (p.Ser302Phe) c.*336C>T (n.*336C>T) | gnomAD v4 |
| 18 | g.59269140G>C | CA402583957 | RAX | c.905C>G (p.Ser302Cys) c.*336C>G (n.*336C>G) | dbSNP gnomAD v4 |
| 18 | g.59269140G= | CA2306830767 | RAX | c.905C= (p.Ser302=) c.*336C= (n.*336C=) | |
| 18 | g.59269140G>T | CA402583959 | RAX | c.905C>A (p.Ser302Tyr) c.*336C>A (n.*336C>A) | |
| 18 | g.59269140_59269141insC | CA2526874724 | RAX | c.904_905insG (p.Ser302CysfsTer?) c.*335_*336insG (n.*335_*336insG) | |
| 18 | g.59269141A= | CA2306830769 | RAX | c.904T= (p.Ser302=) c.*335T= (n.*335T=) | |
| 18 | g.59269141A>C | CA402583963 | RAX | c.904T>G (p.Ser302Ala) c.*335T>G (n.*335T>G) | gnomAD v4 |
| 18 | g.59269141A>G | CA402583961 | RAX | c.904T>C (p.Ser302Pro) c.*335T>C (n.*335T>C) | |
| 18 | g.59269141A>T | CA402583960 | RAX | c.904T>A (p.Ser302Thr) c.*335T>A (n.*335T>A) | |
| 18 | g.59269141dup | CA2642011314 | RAX | c.904dup (p.Ser302PhefsTer?) c.*335dup (n.*335dup) | gnomAD v4 |
| 18 | g.59269142G>A | CA504297026 | RAX | c.903C>T (p.Pro301=) c.*334C>T (n.*334C>T) | dbSNP |
| 18 | g.59269142G>C | CA504297028 | RAX | c.903C>G (p.Pro301=) c.*334C>G (n.*334C>G) | |
| 18 | g.59269142G= | CA2306830771 | RAX | c.903C= (p.Pro301=) c.*334C= (n.*334C=) | |
| 18 | g.59269142G>T | CA504297031 | RAX | c.903C>A (p.Pro301=) c.*334C>A (n.*334C>A) | gnomAD v4 |
| 18 | g.59269142_59269144dup | CA8979247 | RAX | c.901_903dup (p.Pro301_Ser302insPro) c.*332_*334dup (n.*332_*334dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269144del | CA2642011315 | RAX | c.903del (p.Ser302ProfsTer29) c.*334del (n.*334del) | gnomAD v4 |