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 |
|---|---|---|---|---|---|
| 15 | g.90761048_90761049delinsTT | CA2573151478 | BLM | c.1675_1676delinsTT (p.Asp559Phe) c.*599_*600delinsTT (n.*599_*600delinsTT) c.550_551delinsTT (p.Asp184Phe) c.361_362delinsTT (p.Asp121Phe) | ClinVar dbSNP |
| 15 | g.90761053_90761064del | CA2739269733 | BLM | c.1680_1691del (p.Phe561_Asp564del) c.*604_*615del (n.*604_*615del) c.555_566del (p.Phe186_Asp189del) c.366_377del (p.Phe123_Asp126del) | ClinVar |
| 15 | g.90761049A= | CA2195277171 | BLM | c.1676A= (p.Asp559=) c.*600A= (n.*600A=) c.551A= (p.Asp184=) c.362A= (p.Asp121=) | |
| 15 | g.90761049A>C | CA393843590 | BLM | c.1676A>C (p.Asp559Ala) c.*600A>C (n.*600A>C) c.551A>C (p.Asp184Ala) c.362A>C (p.Asp121Ala) | |
| 15 | g.90761049A>G | CA393843591 | BLM | c.1676A>G (p.Asp559Gly) c.*600A>G (n.*600A>G) c.551A>G (p.Asp184Gly) c.362A>G (p.Asp121Gly) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90761049A>T | CA393843592 | BLM | c.1676A>T (p.Asp559Val) c.*600A>T (n.*600A>T) c.551A>T (p.Asp184Val) c.362A>T (p.Asp121Val) | ClinVar dbSNP |
| 15 | g.90761050T>A | CA7738570 | BLM | c.1677T>A (p.Asp559Glu) c.*601T>A (n.*601T>A) c.552T>A (p.Asp184Glu) c.363T>A (p.Asp121Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.90761050T>C | CA492301656 | BLM | c.1677T>C (p.Asp559=) c.*601T>C (n.*601T>C) c.552T>C (p.Asp184=) c.363T>C (p.Asp121=) | |
| 15 | g.90761050T>G | CA393843593 | BLM | c.1677T>G (p.Asp559Glu) c.*601T>G (n.*601T>G) c.552T>G (p.Asp184Glu) c.363T>G (p.Asp121Glu) | |
| 15 | g.90761050T= | CA2195277174 | BLM | c.1677T= (p.Asp559=) c.*601T= (n.*601T=) c.552T= (p.Asp184=) c.363T= (p.Asp121=) | |
| 15 | g.90761051G>A | CA393843594 | BLM | c.1678G>A (p.Asp560Asn) c.*602G>A (n.*602G>A) c.553G>A (p.Asp185Asn) c.364G>A (p.Asp122Asn) | ClinVar dbSNP |
| 15 | g.90761051G>C | CA7738571 | BLM | c.1678G>C (p.Asp560His) c.*602G>C (n.*602G>C) c.553G>C (p.Asp185His) c.364G>C (p.Asp122His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.90761051G= | CA2195277175 | BLM | c.1678G= (p.Asp560=) c.*602G= (n.*602G=) c.553G= (p.Asp185=) c.364G= (p.Asp122=) | |
| 15 | g.90761051G>T | CA393843595 | BLM | c.1678G>T (p.Asp560Tyr) c.*602G>T (n.*602G>T) c.553G>T (p.Asp185Tyr) c.364G>T (p.Asp122Tyr) | |
| 15 | g.90761052A>C | CA393843596 | BLM | c.1679A>C (p.Asp560Ala) c.*603A>C (n.*603A>C) c.554A>C (p.Asp185Ala) c.365A>C (p.Asp122Ala) | ClinVar |
| 15 | g.90761052A>G | CA393843598 | BLM | c.1679A>G (p.Asp560Gly) c.*603A>G (n.*603A>G) c.554A>G (p.Asp185Gly) c.365A>G (p.Asp122Gly) | |
| 15 | g.90761052A>T | CA393843597 | BLM | c.1679A>T (p.Asp560Val) c.*603A>T (n.*603A>T) c.554A>T (p.Asp185Val) c.365A>T (p.Asp122Val) | dbSNP |
| 15 | g.90761053C>A | CA393843599 | BLM | c.1680C>A (p.Asp560Glu) c.*604C>A (n.*604C>A) c.555C>A (p.Asp185Glu) c.366C>A (p.Asp122Glu) | dbSNP |
| 15 | g.90761053C>G | CA393843600 | BLM | c.1680C>G (p.Asp560Glu) c.*604C>G (n.*604C>G) c.555C>G (p.Asp185Glu) c.366C>G (p.Asp122Glu) | dbSNP |
| 15 | g.90761053C>T | CA492301659 | BLM | c.1680C>T (p.Asp560=) c.*604C>T (n.*604C>T) c.555C>T (p.Asp185=) c.366C>T (p.Asp122=) | |
| 15 | g.90761054T>A | CA393843601 | BLM | c.1681T>A (p.Phe561Ile) c.*605T>A (n.*605T>A) c.556T>A (p.Phe186Ile) c.367T>A (p.Phe123Ile) | ClinVar dbSNP |
| 15 | g.90761054T>C | CA393843602 | BLM | c.1681T>C (p.Phe561Leu) c.*605T>C (n.*605T>C) c.556T>C (p.Phe186Leu) c.367T>C (p.Phe123Leu) | |
| 15 | g.90761054T>G | CA393843603 | BLM | c.1681T>G (p.Phe561Val) c.*605T>G (n.*605T>G) c.556T>G (p.Phe186Val) c.367T>G (p.Phe123Val) | ClinVar |
| 15 | g.90761054T= | CA2195277176 | BLM | c.1681T= (p.Phe561=) c.*605T= (n.*605T=) c.556T= (p.Phe186=) c.367T= (p.Phe123=) | |
| 15 | g.90761054_90761055delinsGA | CA2195277178 | BLM | c.1681_1682delinsGA (p.Phe561Asp) c.*605_*606delinsGA (n.*605_*606delinsGA) c.556_557delinsGA (p.Phe186Asp) c.367_368delinsGA (p.Phe123Asp) | ClinVar dbSNP |
| 15 | g.90761054_90761055delinsTT | CA2195277177 | BLM | c.1681_1682delinsTT (p.Phe561=) c.*605_*606delinsTT (n.*605_*606delinsTT) c.556_557delinsTT (p.Phe186=) c.367_368delinsTT (p.Phe123=) | |
| 15 | g.90761055T>A | CA393843604 | BLM | c.1682T>A (p.Phe561Tyr) c.*606T>A (n.*606T>A) c.557T>A (p.Phe186Tyr) c.368T>A (p.Phe123Tyr) | ClinVar |
| 15 | g.90761055T>C | CA393843605 | BLM | c.1682T>C (p.Phe561Ser) c.*606T>C (n.*606T>C) c.557T>C (p.Phe186Ser) c.368T>C (p.Phe123Ser) | |
| 15 | g.90761055T>G | CA393843606 | BLM | c.1682T>G (p.Phe561Cys) c.*606T>G (n.*606T>G) c.557T>G (p.Phe186Cys) c.368T>G (p.Phe123Cys) | |
| 15 | g.90761055_90761058delinsTTGA | CA2195277179 | BLM | c.1682_1685delinsTTGA (p.Phe561=) c.*606_*609delinsTTGA (n.*606_*609delinsTTGA) c.557_560delinsTTGA (p.Phe186=) c.368_371delinsTTGA (p.Phe123=) | |
| 15 | g.90761056T>A | CA393843607 | BLM | c.1683T>A (p.Phe561Leu) c.*607T>A (n.*607T>A) c.558T>A (p.Phe186Leu) c.369T>A (p.Phe123Leu) | |
| 15 | g.90761056T>C | CA492301667 | BLM | c.1683T>C (p.Phe561=) c.*607T>C (n.*607T>C) c.558T>C (p.Phe186=) c.369T>C (p.Phe123=) | ClinVar |
| 15 | g.90761056T>G | CA393843608 | BLM | c.1683T>G (p.Phe561Leu) c.*607T>G (n.*607T>G) c.558T>G (p.Phe186Leu) c.369T>G (p.Phe123Leu) | |
| 15 | g.90761068_90761070dup | CA7738573 | BLM | c.1695_1697dup (p.Asp566_Trp567insAsp) c.*619_*621dup (n.*619_*621dup) c.570_572dup (p.Asp191_Trp192insAsp) c.381_383dup (p.Asp128_Trp129insAsp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.90761068_90761070del | CA7738572 | BLM | c.1695_1697del (p.Asp566del) c.*619_*621del (n.*619_*621del) c.570_572del (p.Asp191del) c.381_383del (p.Asp128del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.90761065_90761070del | CA2731245739 | BLM | c.1692_1697del (p.Asp565_Asp566del) c.*616_*621del (n.*616_*621del) c.567_572del (p.Asp190_Asp191del) c.378_383del (p.Asp127_Asp128del) | dbSNP |
| 15 | g.90761057G>A | CA393843610 | BLM | c.1684G>A (p.Asp562Asn) c.*608G>A (n.*608G>A) c.559G>A (p.Asp187Asn) c.370G>A (p.Asp124Asn) | |
| 15 | g.90761057G>C | CA393843611 | BLM | c.1684G>C (p.Asp562His) c.*608G>C (n.*608G>C) c.559G>C (p.Asp187His) c.370G>C (p.Asp124His) | |
| 15 | g.90761057G>T | CA393843609 | BLM | c.1684G>T (p.Asp562Tyr) c.*608G>T (n.*608G>T) c.559G>T (p.Asp187Tyr) c.370G>T (p.Asp124Tyr) | |
| 15 | g.90761058A>C | CA393843612 | BLM | c.1685A>C (p.Asp562Ala) c.*609A>C (n.*609A>C) c.560A>C (p.Asp187Ala) c.371A>C (p.Asp124Ala) | |
| 15 | g.90761058A>G | CA393843613 | BLM | c.1685A>G (p.Asp562Gly) c.*609A>G (n.*609A>G) c.560A>G (p.Asp187Gly) c.371A>G (p.Asp124Gly) | |
| 15 | g.90761058A>T | CA393843614 | BLM | c.1685A>T (p.Asp562Val) c.*609A>T (n.*609A>T) c.560A>T (p.Asp187Val) c.371A>T (p.Asp124Val) | ClinVar dbSNP |
| 15 | g.90761059T>A | CA393843615 | BLM | c.1686T>A (p.Asp562Glu) c.*610T>A (n.*610T>A) c.561T>A (p.Asp187Glu) c.372T>A (p.Asp124Glu) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90761059T>C | CA492301668 | BLM | c.1686T>C (p.Asp562=) c.*610T>C (n.*610T>C) c.561T>C (p.Asp187=) c.372T>C (p.Asp124=) | ClinVar |
| 15 | g.90761059T>G | CA393843616 | BLM | c.1686T>G (p.Asp562Glu) c.*610T>G (n.*610T>G) c.561T>G (p.Asp187Glu) c.372T>G (p.Asp124Glu) | |
| 15 | g.90761059T= | CA2195277182 | BLM | c.1686T= (p.Asp562=) c.*610T= (n.*610T=) c.561T= (p.Asp187=) c.372T= (p.Asp124=) | |
| 15 | g.90761060G>A | CA393843619 | BLM | c.1687G>A (p.Asp563Asn) c.*611G>A (n.*611G>A) c.562G>A (p.Asp188Asn) c.373G>A (p.Asp125Asn) | dbSNP |
| 15 | g.90761060G>C | CA393843617 | BLM | c.1687G>C (p.Asp563His) c.*611G>C (n.*611G>C) c.562G>C (p.Asp188His) c.373G>C (p.Asp125His) | dbSNP |
| 15 | g.90761060G>T | CA393843618 | BLM | c.1687G>T (p.Asp563Tyr) c.*611G>T (n.*611G>T) c.562G>T (p.Asp188Tyr) c.373G>T (p.Asp125Tyr) | |
| 15 | g.90761061A= | CA2195277184 | BLM | c.1688A= (p.Asp563=) c.*612A= (n.*612A=) c.563A= (p.Asp188=) c.374A= (p.Asp125=) | |
| 15 | g.90761061A>C | CA393843620 | BLM | c.1688A>C (p.Asp563Ala) c.*612A>C (n.*612A>C) c.563A>C (p.Asp188Ala) c.374A>C (p.Asp125Ala) | |
| 15 | g.90761061A>G | CA393843621 | BLM | c.1688A>G (p.Asp563Gly) c.*612A>G (n.*612A>G) c.563A>G (p.Asp188Gly) c.374A>G (p.Asp125Gly) | |
| 15 | g.90761061A>T | CA393843622 | BLM | c.1688A>T (p.Asp563Val) c.*612A>T (n.*612A>T) c.563A>T (p.Asp188Val) c.374A>T (p.Asp125Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.90761062T>A | CA393843623 | BLM | c.1689T>A (p.Asp563Glu) c.*613T>A (n.*613T>A) c.564T>A (p.Asp188Glu) c.375T>A (p.Asp125Glu) | dbSNP |
| 15 | g.90761062T>C | CA492301673 | BLM | c.1689T>C (p.Asp563=) c.*613T>C (n.*613T>C) c.564T>C (p.Asp188=) c.375T>C (p.Asp125=) | ClinVar gnomAD v4 |
| 15 | g.90761062T>G | CA393843624 | BLM | c.1689T>G (p.Asp563Glu) c.*613T>G (n.*613T>G) c.564T>G (p.Asp188Glu) c.375T>G (p.Asp125Glu) | |
| 15 | g.90761063G>A | CA393843625 | BLM | c.1690G>A (p.Asp564Asn) c.*614G>A (n.*614G>A) c.565G>A (p.Asp189Asn) c.376G>A (p.Asp126Asn) | ClinVar gnomAD v4 |
| 15 | g.90761063G>C | CA393843627 | BLM | c.1690G>C (p.Asp564His) c.*614G>C (n.*614G>C) c.565G>C (p.Asp189His) c.376G>C (p.Asp126His) | |
| 15 | g.90761063G>T | CA393843626 | BLM | c.1690G>T (p.Asp564Tyr) c.*614G>T (n.*614G>T) c.565G>T (p.Asp189Tyr) c.376G>T (p.Asp126Tyr) | |
| 15 | g.90761064A= | CA2195277185 | BLM | c.1691A= (p.Asp564=) c.*615A= (n.*615A=) c.566A= (p.Asp189=) c.377A= (p.Asp126=) | |
| 15 | g.90761064A>C | CA393843628 | BLM | c.1691A>C (p.Asp564Ala) c.*615A>C (n.*615A>C) c.566A>C (p.Asp189Ala) c.377A>C (p.Asp126Ala) | |
| 15 | g.90761064A>G | CA393843629 | BLM | c.1691A>G (p.Asp564Gly) c.*615A>G (n.*615A>G) c.566A>G (p.Asp189Gly) c.377A>G (p.Asp126Gly) | ClinVar dbSNP |
| 15 | g.90761064A>T | CA393843630 | BLM | c.1691A>T (p.Asp564Val) c.*615A>T (n.*615A>T) c.566A>T (p.Asp189Val) c.377A>T (p.Asp126Val) | ClinVar dbSNP |
| 15 | g.90761065T>A | CA393843631 | BLM | c.1692T>A (p.Asp564Glu) c.*616T>A (n.*616T>A) c.567T>A (p.Asp189Glu) c.378T>A (p.Asp126Glu) | |
| 15 | g.90761065T>C | CA492301675 | BLM | c.1692T>C (p.Asp564=) c.*616T>C (n.*616T>C) c.567T>C (p.Asp189=) c.378T>C (p.Asp126=) | |
| 15 | g.90761065T>G | CA393843632 | BLM | c.1692T>G (p.Asp564Glu) c.*616T>G (n.*616T>G) c.567T>G (p.Asp189Glu) c.378T>G (p.Asp126Glu) | gnomAD v4 |
| 15 | g.90761066G>A | CA393843633 | BLM | c.1693G>A (p.Asp565Asn) c.*617G>A (n.*617G>A) c.568G>A (p.Asp190Asn) c.379G>A (p.Asp127Asn) | dbSNP |
| 15 | g.90761066G>C | CA393843634 | BLM | c.1693G>C (p.Asp565His) c.*617G>C (n.*617G>C) c.568G>C (p.Asp190His) c.379G>C (p.Asp127His) | dbSNP |
| 15 | g.90761066G>T | CA393843635 | BLM | c.1693G>T (p.Asp565Tyr) c.*617G>T (n.*617G>T) c.568G>T (p.Asp190Tyr) c.379G>T (p.Asp127Tyr) | |
| 15 | g.90761067_90761068insCGA | CA2531601761 | BLM | c.1694_1695insCGA (p.Asp565_Asp566insAsp) c.*618_*619insCGA (n.*618_*619insCGA) c.569_570insCGA (p.Asp190_Asp191insAsp) c.380_381insCGA (p.Asp127_Asp128insAsp) | |
| 15 | g.90761067A>C | CA393843636 | BLM | c.1694A>C (p.Asp565Ala) c.*618A>C (n.*618A>C) c.569A>C (p.Asp190Ala) c.380A>C (p.Asp127Ala) | |
| 15 | g.90761067A>G | CA393843637 | BLM | c.1694A>G (p.Asp565Gly) c.*618A>G (n.*618A>G) c.569A>G (p.Asp190Gly) c.380A>G (p.Asp127Gly) | |
| 15 | g.90761067A>T | CA393843638 | BLM | c.1694A>T (p.Asp565Val) c.*618A>T (n.*618A>T) c.569A>T (p.Asp190Val) c.380A>T (p.Asp127Val) | |
| 15 | g.90761068T>A | CA393843639 | BLM | c.1695T>A (p.Asp565Glu) c.*619T>A (n.*619T>A) c.570T>A (p.Asp190Glu) c.381T>A (p.Asp127Glu) | |
| 15 | g.90761068T>C | CA492301677 | BLM | c.1695T>C (p.Asp565=) c.*619T>C (n.*619T>C) c.570T>C (p.Asp190=) c.381T>C (p.Asp127=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90761068T>G | CA393843640 | BLM | c.1695T>G (p.Asp565Glu) c.*619T>G (n.*619T>G) c.570T>G (p.Asp190Glu) c.381T>G (p.Asp127Glu) | |
| 15 | g.90761068T= | CA2195277187 | BLM | c.1695T= (p.Asp565=) c.*619T= (n.*619T=) c.570T= (p.Asp190=) c.381T= (p.Asp127=) | |
| 15 | g.90761069G>A | CA393843643 | BLM | c.1696G>A (p.Asp566Asn) c.*620G>A (n.*620G>A) c.571G>A (p.Asp191Asn) c.382G>A (p.Asp128Asn) | gnomAD v4 |
| 15 | g.90761069G>C | CA393843642 | BLM | c.1696G>C (p.Asp566His) c.*620G>C (n.*620G>C) c.571G>C (p.Asp191His) c.382G>C (p.Asp128His) | |
| 15 | g.90761069G>T | CA393843641 | BLM | c.1696G>T (p.Asp566Tyr) c.*620G>T (n.*620G>T) c.571G>T (p.Asp191Tyr) c.382G>T (p.Asp128Tyr) | |
| 15 | g.90761070A>C | CA393843644 | BLM | c.1697A>C (p.Asp566Ala) c.*621A>C (n.*621A>C) c.572A>C (p.Asp191Ala) c.383A>C (p.Asp128Ala) | |
| 15 | g.90761070A>G | CA393843645 | BLM | c.1697A>G (p.Asp566Gly) c.*621A>G (n.*621A>G) c.572A>G (p.Asp191Gly) c.383A>G (p.Asp128Gly) | gnomAD v4 |
| 15 | g.90761070A>T | CA393843646 | BLM | c.1697A>T (p.Asp566Val) c.*621A>T (n.*621A>T) c.572A>T (p.Asp191Val) c.383A>T (p.Asp128Val) | |
| 15 | g.90761071C>A | CA393843647 | BLM | c.1698C>A (p.Asp566Glu) c.*622C>A (n.*622C>A) c.573C>A (p.Asp191Glu) c.384C>A (p.Asp128Glu) | |
| 15 | g.90761071C>G | CA393843648 | BLM | c.1698C>G (p.Asp566Glu) c.*622C>G (n.*622C>G) c.573C>G (p.Asp191Glu) c.384C>G (p.Asp128Glu) | |
| 15 | g.90761071C>T | CA492301678 | BLM | c.1698C>T (p.Asp566=) c.*622C>T (n.*622C>T) c.573C>T (p.Asp191=) c.384C>T (p.Asp128=) | |
| 15 | g.90761072T>A | CA393843649 | BLM | c.1699T>A (p.Trp567Arg) c.*623T>A (n.*623T>A) c.574T>A (p.Trp192Arg) c.385T>A (p.Trp129Arg) | |
| 15 | g.90761072T>C | CA393843650 | BLM | c.1699T>C (p.Trp567Arg) c.*623T>C (n.*623T>C) c.574T>C (p.Trp192Arg) c.385T>C (p.Trp129Arg) | ClinVar |
| 15 | g.90761072T>G | CA393843651 | BLM | c.1699T>G (p.Trp567Gly) c.*623T>G (n.*623T>G) c.574T>G (p.Trp192Gly) c.385T>G (p.Trp129Gly) | |
| 15 | g.90761073G>A | CA393843652 | BLM | c.1700G>A (p.Trp567Ter) c.*624G>A (n.*624G>A) c.575G>A (p.Trp192Ter) c.386G>A (p.Trp129Ter) | ClinVar |
| 15 | g.90761073G>C | CA393843653 | BLM | c.1700G>C (p.Trp567Ser) c.*624G>C (n.*624G>C) c.575G>C (p.Trp192Ser) c.386G>C (p.Trp129Ser) | |
| 15 | g.90761073G>T | CA393843654 | BLM | c.1700G>T (p.Trp567Leu) c.*624G>T (n.*624G>T) c.575G>T (p.Trp192Leu) c.386G>T (p.Trp129Leu) | |
| 15 | g.90761074G>A | CA393843655 | BLM | c.1701G>A (p.Trp567Ter) c.*625G>A (n.*625G>A) c.576G>A (p.Trp192Ter) c.387G>A (p.Trp129Ter) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90761074G>C | CA393843656 | BLM | c.1701G>C (p.Trp567Cys) c.*625G>C (n.*625G>C) c.576G>C (p.Trp192Cys) c.387G>C (p.Trp129Cys) | |
| 15 | g.90761074G= | CA2195277189 | BLM | c.1701G= (p.Trp567=) c.*625G= (n.*625G=) c.576G= (p.Trp192=) c.387G= (p.Trp129=) | |
| 15 | g.90761074G>T | CA393843657 | BLM | c.1701G>T (p.Trp567Cys) c.*625G>T (n.*625G>T) c.576G>T (p.Trp192Cys) c.387G>T (p.Trp129Cys) | |
| 15 | g.90761075G>A | CA393843659 | BLM | c.1702G>A (p.Glu568Lys) c.*626G>A (n.*626G>A) c.577G>A (p.Glu193Lys) c.388G>A (p.Glu130Lys) | gnomAD v4 |
| 15 | g.90761075G>C | CA393843660 | BLM | c.1702G>C (p.Glu568Gln) c.*626G>C (n.*626G>C) c.577G>C (p.Glu193Gln) c.388G>C (p.Glu130Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90761075G= | CA2195277191 | BLM | c.1702G= (p.Glu568=) c.*626G= (n.*626G=) c.577G= (p.Glu193=) c.388G= (p.Glu130=) | |
| 15 | g.90761075G>T | CA393843658 | BLM | c.1702G>T (p.Glu568Ter) c.*626G>T (n.*626G>T) c.577G>T (p.Glu193Ter) c.388G>T (p.Glu130Ter) | |
| 15 | g.90761076A>C | CA393843661 | BLM | c.1703A>C (p.Glu568Ala) c.*627A>C (n.*627A>C) c.578A>C (p.Glu193Ala) c.389A>C (p.Glu130Ala) | |
| 15 | g.90761076A>G | CA393843662 | BLM | c.1703A>G (p.Glu568Gly) c.*627A>G (n.*627A>G) c.578A>G (p.Glu193Gly) c.389A>G (p.Glu130Gly) | |
| 15 | g.90761076A>T | CA393843663 | BLM | c.1703A>T (p.Glu568Val) c.*627A>T (n.*627A>T) c.578A>T (p.Glu193Val) c.389A>T (p.Glu130Val) | |
| 15 | g.90761077A= | CA2195277193 | BLM | c.1704A= (p.Glu568=) c.*628A= (n.*628A=) c.579A= (p.Glu193=) c.390A= (p.Glu130=) | |
| 15 | g.90761077A>C | CA393843664 | BLM | c.1704A>C (p.Glu568Asp) c.*628A>C (n.*628A>C) c.579A>C (p.Glu193Asp) c.390A>C (p.Glu130Asp) | |
| 15 | g.90761077A>G | CA7738574 | BLM | c.1704A>G (p.Glu568=) c.*628A>G (n.*628A>G) c.579A>G (p.Glu193=) c.390A>G (p.Glu130=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90761077A>T | CA393843665 | BLM | c.1704A>T (p.Glu568Asp) c.*628A>T (n.*628A>T) c.579A>T (p.Glu193Asp) c.390A>T (p.Glu130Asp) | |
| 15 | g.90761078G>A | CA393843666 | BLM | c.1705G>A (p.Asp569Asn) c.*629G>A (n.*629G>A) c.580G>A (p.Asp194Asn) c.391G>A (p.Asp131Asn) | ClinVar |
| 15 | g.90761078G>C | CA393843667 | BLM | c.1705G>C (p.Asp569His) c.*629G>C (n.*629G>C) c.580G>C (p.Asp194His) c.391G>C (p.Asp131His) | |
| 15 | g.90761078G>T | CA393843668 | BLM | c.1705G>T (p.Asp569Tyr) c.*629G>T (n.*629G>T) c.580G>T (p.Asp194Tyr) c.391G>T (p.Asp131Tyr) | ClinVar gnomAD v4 |
| 15 | g.90761079A= | CA2195277194 | BLM | c.1706A= (p.Asp569=) c.*630A= (n.*630A=) c.581A= (p.Asp194=) c.392A= (p.Asp131=) | |
| 15 | g.90761079A>C | CA393843669 | BLM | c.1706A>C (p.Asp569Ala) c.*630A>C (n.*630A>C) c.581A>C (p.Asp194Ala) c.392A>C (p.Asp131Ala) | |
| 15 | g.90761079A>G | CA393843670 | BLM | c.1706A>G (p.Asp569Gly) c.*630A>G (n.*630A>G) c.581A>G (p.Asp194Gly) c.392A>G (p.Asp131Gly) | ClinVar dbSNP |
| 15 | g.90761079A>T | CA393843671 | BLM | c.1706A>T (p.Asp569Val) c.*630A>T (n.*630A>T) c.581A>T (p.Asp194Val) c.392A>T (p.Asp131Val) | |
| 15 | g.90761080C>A | CA393843673 | BLM | c.1707C>A (p.Asp569Glu) c.*631C>A (n.*631C>A) c.582C>A (p.Asp194Glu) c.393C>A (p.Asp131Glu) | |
| 15 | g.90761080C= | CA2195277196 | BLM | c.1707C= (p.Asp569=) c.*631C= (n.*631C=) c.582C= (p.Asp194=) c.393C= (p.Asp131=) | |
| 15 | g.90761080C>G | CA393843672 | BLM | c.1707C>G (p.Asp569Glu) c.*631C>G (n.*631C>G) c.582C>G (p.Asp194Glu) c.393C>G (p.Asp131Glu) | dbSNP |
| 15 | g.90761080C>T | CA492301684 | BLM | c.1707C>T (p.Asp569=) c.*631C>T (n.*631C>T) c.582C>T (p.Asp194=) c.393C>T (p.Asp131=) | ClinVar dbSNP |
| 15 | g.90761081A= | CA2195277199 | BLM | c.1708A= (p.Ile570=) c.*632A= (n.*632A=) c.583A= (p.Ile195=) c.394A= (p.Ile132=) | |
| 15 | g.90761081A>C | CA393843674 | BLM | c.1708A>C (p.Ile570Leu) c.*632A>C (n.*632A>C) c.583A>C (p.Ile195Leu) c.394A>C (p.Ile132Leu) | ClinVar dbSNP |
| 15 | g.90761081A>G | CA393843675 | BLM | c.1708A>G (p.Ile570Val) c.*632A>G (n.*632A>G) c.583A>G (p.Ile195Val) c.394A>G (p.Ile132Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.90761081A>T | CA7738575 | BLM | c.1708A>T (p.Ile570Leu) c.*632A>T (n.*632A>T) c.583A>T (p.Ile195Leu) c.394A>T (p.Ile132Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90761082T>A | CA393843676 | BLM | c.1709T>A (p.Ile570Lys) c.*633T>A (n.*633T>A) c.584T>A (p.Ile195Lys) c.395T>A (p.Ile132Lys) | dbSNP gnomAD v4 |
| 15 | g.90761082T>C | CA393843677 | BLM | c.1709T>C (p.Ile570Thr) c.*633T>C (n.*633T>C) c.584T>C (p.Ile195Thr) c.395T>C (p.Ile132Thr) | ClinVar dbSNP |
| 15 | g.90761082T>G | CA393843678 | BLM | c.1709T>G (p.Ile570Arg) c.*633T>G (n.*633T>G) c.584T>G (p.Ile195Arg) c.395T>G (p.Ile132Arg) | |
| 15 | g.90761082T= | CA2195277201 | BLM | c.1709T= (p.Ile570=) c.*633T= (n.*633T=) c.584T= (p.Ile195=) c.395T= (p.Ile132=) | |
| 15 | g.90761083A>C | CA492301687 | BLM | c.1710A>C (p.Ile570=) c.*634A>C (n.*634A>C) c.585A>C (p.Ile195=) c.396A>C (p.Ile132=) | |
| 15 | g.90761083A>G | CA393843679 | BLM | c.1710A>G (p.Ile570Met) c.*634A>G (n.*634A>G) c.585A>G (p.Ile195Met) c.396A>G (p.Ile132Met) | |
| 15 | g.90761083A>T | CA492301688 | BLM | c.1710A>T (p.Ile570=) c.*634A>T (n.*634A>T) c.585A>T (p.Ile195=) c.396A>T (p.Ile132=) | |
| 15 | g.90761084A>C | CA393843680 | BLM | c.1711A>C (p.Met571Leu) c.*635A>C (n.*635A>C) c.586A>C (p.Met196Leu) c.397A>C (p.Met133Leu) | |
| 15 | g.90761084A>G | CA393843681 | BLM | c.1711A>G (p.Met571Val) c.*635A>G (n.*635A>G) c.586A>G (p.Met196Val) c.397A>G (p.Met133Val) | |
| 15 | g.90761084A>T | CA393843682 | BLM | c.1711A>T (p.Met571Leu) c.*635A>T (n.*635A>T) c.586A>T (p.Met196Leu) c.397A>T (p.Met133Leu) | gnomAD v4 |
| 15 | g.90761085T>A | CA393843683 | BLM | c.1712T>A (p.Met571Lys) c.*636T>A (n.*636T>A) c.587T>A (p.Met196Lys) c.398T>A (p.Met133Lys) | |
| 15 | g.90761085T>C | CA157448 | BLM | c.1712T>C (p.Met571Thr) c.*636T>C (n.*636T>C) c.587T>C (p.Met196Thr) c.398T>C (p.Met133Thr) | ClinVar dbSNP |
| 15 | g.90761085T>G | CA393843684 | BLM | c.1712T>G (p.Met571Arg) c.*636T>G (n.*636T>G) c.587T>G (p.Met196Arg) c.398T>G (p.Met133Arg) | |
| 15 | g.90761085T= | CA2195277203 | BLM | c.1712T= (p.Met571=) c.*636T= (n.*636T=) c.587T= (p.Met196=) c.398T= (p.Met133=) | |
| 15 | g.90761086G>A | CA393843687 | BLM | c.1713G>A (p.Met571Ile) c.*637G>A (n.*637G>A) c.588G>A (p.Met196Ile) c.399G>A (p.Met133Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.90761086G>C | CA393843686 | BLM | c.1713G>C (p.Met571Ile) c.*637G>C (n.*637G>C) c.588G>C (p.Met196Ile) c.399G>C (p.Met133Ile) | |
| 15 | g.90761086G= | CA2195277205 | BLM | c.1713G= (p.Met571=) c.*637G= (n.*637G=) c.588G= (p.Met196=) c.399G= (p.Met133=) | |
| 15 | g.90761086G>T | CA393843685 | BLM | c.1713G>T (p.Met571Ile) c.*637G>T (n.*637G>T) c.588G>T (p.Met196Ile) c.399G>T (p.Met133Ile) | |
| 15 | g.90761087C>A | CA393843688 | BLM | c.1714C>A (p.His572Asn) c.*638C>A (n.*638C>A) c.589C>A (p.His197Asn) c.400C>A (p.His134Asn) | gnomAD v4 |
| 15 | g.90761087C= | CA2195277207 | BLM | c.1714C= (p.His572=) c.*638C= (n.*638C=) c.589C= (p.His197=) c.400C= (p.His134=) | |
| 15 | g.90761087C>G | CA393843690 | BLM | c.1714C>G (p.His572Asp) c.*638C>G (n.*638C>G) c.589C>G (p.His197Asp) c.400C>G (p.His134Asp) | |
| 15 | g.90761087C>T | CA393843689 | BLM | c.1714C>T (p.His572Tyr) c.*638C>T (n.*638C>T) c.589C>T (p.His197Tyr) c.400C>T (p.His134Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.90761088A= | CA2195277208 | BLM | c.1715A= (p.His572=) c.*639A= (n.*639A=) c.590A= (p.His197=) c.401A= (p.His134=) | |
| 15 | g.90761088A>C | CA274738385 | BLM | c.1715A>C (p.His572Pro) c.*639A>C (n.*639A>C) c.590A>C (p.His197Pro) c.401A>C (p.His134Pro) | ClinVar dbSNP |
| 15 | g.90761088A>G | CA7738576 | BLM | c.1715A>G (p.His572Arg) c.*639A>G (n.*639A>G) c.590A>G (p.His197Arg) c.401A>G (p.His134Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.90761088A>T | CA393843691 | BLM | c.1715A>T (p.His572Leu) c.*639A>T (n.*639A>T) c.590A>T (p.His197Leu) c.401A>T (p.His134Leu) | |
| 15 | g.90761089T>A | CA393843692 | BLM | c.1716T>A (p.His572Gln) c.*640T>A (n.*640T>A) c.591T>A (p.His197Gln) c.402T>A (p.His134Gln) | |
| 15 | g.90761089T>C | CA274738396 | BLM | c.1716T>C (p.His572=) c.*640T>C (n.*640T>C) c.591T>C (p.His197=) c.402T>C (p.His134=) | dbSNP gnomAD v4 |
| 15 | g.90761089T>G | CA393843693 | BLM | c.1716T>G (p.His572Gln) c.*640T>G (n.*640T>G) c.591T>G (p.His197Gln) c.402T>G (p.His134Gln) | |
| 15 | g.90761089T= | CA2195277211 | BLM | c.1716T= (p.His572=) c.*640T= (n.*640T=) c.591T= (p.His197=) c.402T= (p.His134=) | |
| 15 | g.90761089_90761105delinsTAATTTAGCAGCCAGCA | CA2195277210 | BLM | c.1716_1732delinsTAATTTAGCAGCCAGCA (p.His572=) c.*640_*656delinsTAATTTAGCAGCCAGCA (n.*640_*656delinsTAATTTAGCAGCCAGCA) c.591_607delinsTAATTTAGCAGCCAGCA (p.His197=) c.402_418delinsTAATTTAGCAGCCAGCA (p.His134=) | |
| 15 | g.90761090A>C | CA393843694 | BLM | c.1717A>C (p.Asn573His) c.*641A>C (n.*641A>C) c.592A>C (p.Asn198His) c.403A>C (p.Asn135His) | ClinVar |
| 15 | g.90761090A>G | CA393843695 | BLM | c.1717A>G (p.Asn573Asp) c.*641A>G (n.*641A>G) c.592A>G (p.Asn198Asp) c.403A>G (p.Asn135Asp) | gnomAD v4 |
| 15 | g.90761090A>T | CA393843696 | BLM | c.1717A>T (p.Asn573Tyr) c.*641A>T (n.*641A>T) c.592A>T (p.Asn198Tyr) c.403A>T (p.Asn135Tyr) | |
| 15 | g.90761093_90761108del | CA16041770 | BLM | c.1720_1735del (p.Ala575ProfsTer?) c.*644_*659del (n.*644_*659del) c.595_610del (p.Ala200ProfsTer?) c.406_421del (p.Ala137ProfsTer?) | ClinVar dbSNP |
| 15 | g.90761091A>C | CA393843697 | BLM | c.1718A>C (p.Asn573Thr) c.*642A>C (n.*642A>C) c.593A>C (p.Asn198Thr) c.404A>C (p.Asn135Thr) | |
| 15 | g.90761091A>G | CA393843698 | BLM | c.1718A>G (p.Asn573Ser) c.*642A>G (n.*642A>G) c.593A>G (p.Asn198Ser) c.404A>G (p.Asn135Ser) | |
| 15 | g.90761091A>T | CA393843699 | BLM | c.1718A>T (p.Asn573Ile) c.*642A>T (n.*642A>T) c.593A>T (p.Asn198Ile) c.404A>T (p.Asn135Ile) | ClinVar |
| 15 | g.90761092T>A | CA393843700 | BLM | c.1719T>A (p.Asn573Lys) c.*643T>A (n.*643T>A) c.594T>A (p.Asn198Lys) c.405T>A (p.Asn135Lys) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90761092T>C | CA492301704 | BLM | c.1719T>C (p.Asn573=) c.*643T>C (n.*643T>C) c.594T>C (p.Asn198=) c.405T>C (p.Asn135=) | |
| 15 | g.90761092T>G | CA393843701 | BLM | c.1719T>G (p.Asn573Lys) c.*643T>G (n.*643T>G) c.594T>G (p.Asn198Lys) c.405T>G (p.Asn135Lys) | |
| 15 | g.90761092T= | CA2195277214 | BLM | c.1719T= (p.Asn573=) c.*643T= (n.*643T=) c.594T= (p.Asn198=) c.405T= (p.Asn135=) | |
| 15 | g.90761094del | CA2630381048 | BLM | c.1721del (p.Leu574Ter) c.*645del (n.*645del) c.596del (p.Leu199Ter) c.407del (p.Leu136Ter) | gnomAD v4 |
| 15 | g.90761093T>A | CA393843702 | BLM | c.1720T>A (p.Leu574Ile) c.*644T>A (n.*644T>A) c.595T>A (p.Leu199Ile) c.406T>A (p.Leu136Ile) | |
| 15 | g.90761093T>C | CA492301706 | BLM | c.1720T>C (p.Leu574=) c.*644T>C (n.*644T>C) c.595T>C (p.Leu199=) c.406T>C (p.Leu136=) | |
| 15 | g.90761093T>G | CA393843703 | BLM | c.1720T>G (p.Leu574Val) c.*644T>G (n.*644T>G) c.595T>G (p.Leu199Val) c.406T>G (p.Leu136Val) | |
| 15 | g.90761094T>A | CA393843704 | BLM | c.1721T>A (p.Leu574Ter) c.*645T>A (n.*645T>A) c.596T>A (p.Leu199Ter) c.407T>A (p.Leu136Ter) | |
| 15 | g.90761094T>C | CA274738402 | BLM | c.1721T>C (p.Leu574Ser) c.*645T>C (n.*645T>C) c.596T>C (p.Leu199Ser) c.407T>C (p.Leu136Ser) | dbSNP |
| 15 | g.90761094T>G | CA393843705 | BLM | c.1721T>G (p.Leu574Ter) c.*645T>G (n.*645T>G) c.596T>G (p.Leu199Ter) c.407T>G (p.Leu136Ter) | |
| 15 | g.90761094T= | CA2195277217 | BLM | c.1721T= (p.Leu574=) c.*645T= (n.*645T=) c.596T= (p.Leu199=) c.407T= (p.Leu136=) | |
| 15 | g.90761094_90761098delinsTAGCA | CA2195277216 | BLM | c.1721_1725delinsTAGCA (p.Leu574=) c.*645_*649delinsTAGCA (n.*645_*649delinsTAGCA) c.596_600delinsTAGCA (p.Leu199=) c.407_411delinsTAGCA (p.Leu136=) | |
| 15 | g.90761095A= | CA2195277222 | BLM | c.1722A= (p.Leu574=) c.*646A= (n.*646A=) c.597A= (p.Leu199=) c.408A= (p.Leu136=) | |
| 15 | g.90761095A>C | CA393843706 | BLM | c.1722A>C (p.Leu574Phe) c.*646A>C (n.*646A>C) c.597A>C (p.Leu199Phe) c.408A>C (p.Leu136Phe) | |
| 15 | g.90761095A>G | CA203389 | BLM | c.1722A>G (p.Leu574=) c.*646A>G (n.*646A>G) c.597A>G (p.Leu199=) c.408A>G (p.Leu136=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90761095A>T | CA393843707 | BLM | c.1722A>T (p.Leu574Phe) c.*646A>T (n.*646A>T) c.597A>T (p.Leu199Phe) c.408A>T (p.Leu136Phe) | |
| 15 | g.90761095_90761097delinsAGC | CA2195277223 | BLM | c.1722_1724delinsAGC (p.Leu574=) c.*646_*648delinsAGC (n.*646_*648delinsAGC) c.597_599delinsAGC (p.Leu199=) c.408_410delinsAGC (p.Leu136=) | |
| 15 | g.90761095_90761097delinsTAA | CA157439 | BLM | c.1722_1724delinsTAA (p.Leu574_Ala575delinsPheLys) c.*646_*648delinsTAA (n.*646_*648delinsTAA) c.597_599delinsTAA (p.Leu199_Ala200delinsPheLys) c.408_410delinsTAA (p.Leu136_Ala137delinsPheLys) | ClinVar dbSNP |
| 15 | g.90761095_90761098delinsGGC | CA16041771 | BLM | c.1722_1725delinsGGC (p.Ala576ProfsTer?) c.*646_*649delinsGGC (n.*646_*649delinsGGC) c.597_600delinsGGC (p.Ala201ProfsTer?) c.408_411delinsGGC (p.Ala138ProfsTer?) | ClinVar dbSNP |
| 15 | g.90761096G>A | CA393843708 | BLM | c.1723G>A (p.Ala575Thr) c.*647G>A (n.*647G>A) c.598G>A (p.Ala200Thr) c.409G>A (p.Ala137Thr) | dbSNP |
| 15 | g.90761096G>C | CA393843709 | BLM | c.1723G>C (p.Ala575Pro) c.*647G>C (n.*647G>C) c.598G>C (p.Ala200Pro) c.409G>C (p.Ala137Pro) | dbSNP |
| 15 | g.90761096G>T | CA393843710 | BLM | c.1723G>T (p.Ala575Ser) c.*647G>T (n.*647G>T) c.598G>T (p.Ala200Ser) c.409G>T (p.Ala137Ser) | |
| 15 | g.90761097C>A | CA393843711 | BLM | c.1724C>A (p.Ala575Glu) c.*648C>A (n.*648C>A) c.599C>A (p.Ala200Glu) c.410C>A (p.Ala137Glu) | |
| 15 | g.90761097C= | CA2195277226 | BLM | c.1724C= (p.Ala575=) c.*648C= (n.*648C=) c.599C= (p.Ala200=) c.410C= (p.Ala137=) | |
| 15 | g.90761097C>G | CA393843712 | BLM | c.1724C>G (p.Ala575Gly) c.*648C>G (n.*648C>G) c.599C>G (p.Ala200Gly) c.410C>G (p.Ala137Gly) | |
| 15 | g.90761097C>T | CA7738577 | BLM | c.1724C>T (p.Ala575Val) c.*648C>T (n.*648C>T) c.599C>T (p.Ala200Val) c.410C>T (p.Ala137Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90761098A>C | CA492301757 | BLM | c.1725A>C (p.Ala575=) c.*649A>C (n.*649A>C) c.600A>C (p.Ala200=) c.411A>C (p.Ala137=) | ClinVar |
| 15 | g.90761098A>G | CA492301758 | BLM | c.1725A>G (p.Ala575=) c.*649A>G (n.*649A>G) c.600A>G (p.Ala200=) c.411A>G (p.Ala137=) | ClinVar dbSNP |
| 15 | g.90761098A>T | CA492301759 | BLM | c.1725A>T (p.Ala575=) c.*649A>T (n.*649A>T) c.600A>T (p.Ala200=) c.411A>T (p.Ala137=) | |
| 15 | g.90761099G>A | CA393843713 | BLM | c.1726G>A (p.Ala576Thr) c.*650G>A (n.*650G>A) c.601G>A (p.Ala201Thr) c.412G>A (p.Ala138Thr) | ClinVar gnomAD v4 |
| 15 | g.90761099G>C | CA393843714 | BLM | c.1726G>C (p.Ala576Pro) c.*650G>C (n.*650G>C) c.601G>C (p.Ala201Pro) c.412G>C (p.Ala138Pro) | |
| 15 | g.90761099G>T | CA393843715 | BLM | c.1726G>T (p.Ala576Ser) c.*650G>T (n.*650G>T) c.601G>T (p.Ala201Ser) c.412G>T (p.Ala138Ser) | |
| 15 | g.90761100C>A | CA393843716 | BLM | c.1727C>A (p.Ala576Asp) c.*651C>A (n.*651C>A) c.602C>A (p.Ala201Asp) c.413C>A (p.Ala138Asp) | dbSNP gnomAD v4 |
| 15 | g.90761100C>G | CA393843717 | BLM | c.1727C>G (p.Ala576Gly) c.*651C>G (n.*651C>G) c.602C>G (p.Ala201Gly) c.413C>G (p.Ala138Gly) | |
| 15 | g.90761100C>T | CA393843718 | BLM | c.1727C>T (p.Ala576Val) c.*651C>T (n.*651C>T) c.602C>T (p.Ala201Val) c.413C>T (p.Ala138Val) | ClinVar gnomAD v4 |
| 15 | g.90761101C>A | CA492301760 | BLM | c.1728C>A (p.Ala576=) c.*652C>A (n.*652C>A) c.603C>A (p.Ala201=) c.414C>A (p.Ala138=) | |
| 15 | g.90761101C>G | CA492301761 | BLM | c.1728C>G (p.Ala576=) c.*652C>G (n.*652C>G) c.603C>G (p.Ala201=) c.414C>G (p.Ala138=) | |
| 15 | g.90761101C>T | CA492301762 | BLM | c.1728C>T (p.Ala576=) c.*652C>T (n.*652C>T) c.603C>T (p.Ala201=) c.414C>T (p.Ala138=) | |
| 15 | g.90761102A= | CA2195277227 | BLM | c.1729A= (p.Ser577=) c.*653A= (n.*653A=) c.604A= (p.Ser202=) c.415A= (p.Ser139=) | |
| 15 | g.90761102A>C | CA7738578 | BLM | c.1729A>C (p.Ser577Arg) c.*653A>C (n.*653A>C) c.604A>C (p.Ser202Arg) c.415A>C (p.Ser139Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.90761102A>G | CA7738579 | BLM | c.1729A>G (p.Ser577Gly) c.*653A>G (n.*653A>G) c.604A>G (p.Ser202Gly) c.415A>G (p.Ser139Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90761102A>T | CA393843719 | BLM | c.1729A>T (p.Ser577Cys) c.*653A>T (n.*653A>T) c.604A>T (p.Ser202Cys) c.415A>T (p.Ser139Cys) | |
| 15 | g.90761103G>A | CA393843720 | BLM | c.1730G>A (p.Ser577Asn) c.*654G>A (n.*654G>A) c.605G>A (p.Ser202Asn) c.416G>A (p.Ser139Asn) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90761103G>C | CA393843721 | BLM | c.1730G>C (p.Ser577Thr) c.*654G>C (n.*654G>C) c.605G>C (p.Ser202Thr) c.416G>C (p.Ser139Thr) | |
| 15 | g.90761103G= | CA2195277229 | BLM | c.1730G= (p.Ser577=) c.*654G= (n.*654G=) c.605G= (p.Ser202=) c.416G= (p.Ser139=) | |
| 15 | g.90761103G>T | CA393843722 | BLM | c.1730G>T (p.Ser577Ile) c.*654G>T (n.*654G>T) c.605G>T (p.Ser202Ile) c.416G>T (p.Ser139Ile) | dbSNP |
| 15 | g.90761104C>A | CA393843723 | BLM | c.1731C>A (p.Ser577Arg) c.*655C>A (n.*655C>A) c.606C>A (p.Ser202Arg) c.417C>A (p.Ser139Arg) | gnomAD v4 |
| 15 | g.90761104C>G | CA393843724 | BLM | c.1731C>G (p.Ser577Arg) c.*655C>G (n.*655C>G) c.606C>G (p.Ser202Arg) c.417C>G (p.Ser139Arg) | |
| 15 | g.90761104C>T | CA492301763 | BLM | c.1731C>T (p.Ser577=) c.*655C>T (n.*655C>T) c.606C>T (p.Ser202=) c.417C>T (p.Ser139=) | ClinVar |
| 15 | g.90761105A>C | CA393843725 | BLM | c.1732A>C (p.Lys578Gln) c.*656A>C (n.*656A>C) c.607A>C (p.Lys203Gln) c.418A>C (p.Lys140Gln) | |
| 15 | g.90761105A>G | CA393843726 | BLM | c.1732A>G (p.Lys578Glu) c.*656A>G (n.*656A>G) c.607A>G (p.Lys203Glu) c.418A>G (p.Lys140Glu) | gnomAD v4 |
| 15 | g.90761105A>T | CA393843727 | BLM | c.1732A>T (p.Lys578Ter) c.*656A>T (n.*656A>T) c.607A>T (p.Lys203Ter) c.418A>T (p.Lys140Ter) | ClinVar dbSNP |
| 15 | g.90761106A>C | CA393843728 | BLM | c.1733A>C (p.Lys578Thr) c.*657A>C (n.*657A>C) c.608A>C (p.Lys203Thr) c.419A>C (p.Lys140Thr) | ClinVar dbSNP |
| 15 | g.90761106A>G | CA393843729 | BLM | c.1733A>G (p.Lys578Arg) c.*657A>G (n.*657A>G) c.608A>G (p.Lys203Arg) c.419A>G (p.Lys140Arg) | ClinVar |
| 15 | g.90761106A>T | CA393843730 | BLM | c.1733A>T (p.Lys578Ile) c.*657A>T (n.*657A>T) c.608A>T (p.Lys203Ile) c.419A>T (p.Lys140Ile) | |
| 15 | g.90761107A= | CA2195277231 | BLM | c.1734A= (p.Lys578=) c.*658A= (n.*658A=) c.609A= (p.Lys203=) c.420A= (p.Lys140=) | |
| 15 | g.90761107A>C | CA393843731 | BLM | c.1734A>C (p.Lys578Asn) c.*658A>C (n.*658A>C) c.609A>C (p.Lys203Asn) c.420A>C (p.Lys140Asn) | ClinVar dbSNP |
| 15 | g.90761107A>G | CA492301764 | BLM | c.1734A>G (p.Lys578=) c.*658A>G (n.*658A>G) c.609A>G (p.Lys203=) c.420A>G (p.Lys140=) | ClinVar gnomAD v4 |
| 15 | g.90761107A>T | CA393843732 | BLM | c.1734A>T (p.Lys578Asn) c.*658A>T (n.*658A>T) c.609A>T (p.Lys203Asn) c.420A>T (p.Lys140Asn) | ClinVar |
| 15 | g.90761108T>A | CA393843733 | BLM | c.1735T>A (p.Ser579Thr) c.*659T>A (n.*659T>A) c.610T>A (p.Ser204Thr) c.421T>A (p.Ser141Thr) | ClinVar |
| 15 | g.90761108T>C | CA393843734 | BLM | c.1735T>C (p.Ser579Pro) c.*659T>C (n.*659T>C) c.610T>C (p.Ser204Pro) c.421T>C (p.Ser141Pro) | |
| 15 | g.90761108T>G | CA393843735 | BLM | c.1735T>G (p.Ser579Ala) c.*659T>G (n.*659T>G) c.610T>G (p.Ser204Ala) c.421T>G (p.Ser141Ala) | |
| 15 | g.90761109C>A | CA393843738 | BLM | c.1736C>A (p.Ser579Tyr) c.*660C>A (n.*660C>A) c.611C>A (p.Ser204Tyr) c.422C>A (p.Ser141Tyr) | gnomAD v4 |
| 15 | g.90761109C>G | CA393843737 | BLM | c.1736C>G (p.Ser579Cys) c.*660C>G (n.*660C>G) c.611C>G (p.Ser204Cys) c.422C>G (p.Ser141Cys) | |
| 15 | g.90761109C>T | CA393843736 | BLM | c.1736C>T (p.Ser579Phe) c.*660C>T (n.*660C>T) c.611C>T (p.Ser204Phe) c.422C>T (p.Ser141Phe) | |
| 15 | g.90761110T>A | CA492301765 | BLM | c.1737T>A (p.Ser579=) c.*661T>A (n.*661T>A) c.612T>A (p.Ser204=) c.423T>A (p.Ser141=) | |
| 15 | g.90761110T>C | CA492301768 | BLM | c.1737T>C (p.Ser579=) c.*661T>C (n.*661T>C) c.612T>C (p.Ser204=) c.423T>C (p.Ser141=) | |
| 15 | g.90761110T>G | CA492301767 | BLM | c.1737T>G (p.Ser579=) c.*661T>G (n.*661T>G) c.612T>G (p.Ser204=) c.423T>G (p.Ser141=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90761111T>A | CA393843739 | BLM | c.1738T>A (p.Ser580Thr) c.*662T>A (n.*662T>A) c.613T>A (p.Ser205Thr) c.424T>A (p.Ser142Thr) | |
| 15 | g.90761111T>C | CA393843740 | BLM | c.1738T>C (p.Ser580Pro) c.*662T>C (n.*662T>C) c.613T>C (p.Ser205Pro) c.424T>C (p.Ser142Pro) | COSMIC |
| 15 | g.90761111T>G | CA393843741 | BLM | c.1738T>G (p.Ser580Ala) c.*662T>G (n.*662T>G) c.613T>G (p.Ser205Ala) c.424T>G (p.Ser142Ala) | |
| 15 | g.90761111_90761112delinsTC | CA2195277232 | BLM | c.1738_1739delinsTC (p.Ser580=) c.*662_*663delinsTC (n.*662_*663delinsTC) c.613_614delinsTC (p.Ser205=) c.424_425delinsTC (p.Ser142=) | |
| 15 | g.90761112C>A | CA393843742 | BLM | c.1739C>A (p.Ser580Tyr) c.*663C>A (n.*663C>A) c.614C>A (p.Ser205Tyr) c.425C>A (p.Ser142Tyr) | |
| 15 | g.90761112C= | CA2195277235 | BLM | c.1739C= (p.Ser580=) c.*663C= (n.*663C=) c.614C= (p.Ser205=) c.425C= (p.Ser142=) | |
| 15 | g.90761112C>G | CA393843743 | BLM | c.1739C>G (p.Ser580Cys) c.*663C>G (n.*663C>G) c.614C>G (p.Ser205Cys) c.425C>G (p.Ser142Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.90761112C>T | CA393843744 | BLM | c.1739C>T (p.Ser580Phe) c.*663C>T (n.*663C>T) c.614C>T (p.Ser205Phe) c.425C>T (p.Ser142Phe) | ClinVar COSMIC |
| 15 | g.90761113del | CA16041772 | BLM | c.1740del (p.Thr581GlnfsTer?) c.*664del (n.*664del) c.615del (p.Thr206GlnfsTer?) c.426del (p.Thr143GlnfsTer?) | ClinVar dbSNP |
| 15 | g.90761113C>A | CA492301771 | BLM | c.1740C>A (p.Ser580=) c.*664C>A (n.*664C>A) c.615C>A (p.Ser205=) c.426C>A (p.Ser142=) | |
| 15 | g.90761113C>G | CA492301772 | BLM | c.1740C>G (p.Ser580=) c.*664C>G (n.*664C>G) c.615C>G (p.Ser205=) c.426C>G (p.Ser142=) | |
| 15 | g.90761113C>T | CA492301773 | BLM | c.1740C>T (p.Ser580=) c.*664C>T (n.*664C>T) c.615C>T (p.Ser205=) c.426C>T (p.Ser142=) | |
| 15 | g.90761114A= | CA2195277237 | BLM | c.1741A= (p.Thr581=) c.*665A= (n.*665A=) c.616A= (p.Thr206=) c.427A= (p.Thr143=) | |
| 15 | g.90761114A>C | CA393843745 | BLM | c.1741A>C (p.Thr581Pro) c.*665A>C (n.*665A>C) c.616A>C (p.Thr206Pro) c.427A>C (p.Thr143Pro) | |
| 15 | g.90761114A>G | CA157442 | BLM | c.1741A>G (p.Thr581Ala) c.*665A>G (n.*665A>G) c.616A>G (p.Thr206Ala) c.427A>G (p.Thr143Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90761114A>T | CA393843746 | BLM | c.1741A>T (p.Thr581Ser) c.*665A>T (n.*665A>T) c.616A>T (p.Thr206Ser) c.427A>T (p.Thr143Ser) | |
| 15 | g.90761115C>A | CA393843747 | BLM | c.1742C>A (p.Thr581Lys) c.*666C>A (n.*666C>A) c.617C>A (p.Thr206Lys) c.428C>A (p.Thr143Lys) | |
| 15 | g.90761115C>G | CA393843748 | BLM | c.1742C>G (p.Thr581Arg) c.*666C>G (n.*666C>G) c.617C>G (p.Thr206Arg) c.428C>G (p.Thr143Arg) | gnomAD v4 |
| 15 | g.90761115C>T | CA393843749 | BLM | c.1742C>T (p.Thr581Ile) c.*666C>T (n.*666C>T) c.617C>T (p.Thr206Ile) c.428C>T (p.Thr143Ile) | ClinVar dbSNP |
| 15 | g.90761116A>C | CA492301775 | BLM | c.1743A>C (p.Thr581=) c.*667A>C (n.*667A>C) c.618A>C (p.Thr206=) c.429A>C (p.Thr143=) | |
| 15 | g.90761116A>G | CA492301776 | BLM | c.1743A>G (p.Thr581=) c.*667A>G (n.*667A>G) c.618A>G (p.Thr206=) c.429A>G (p.Thr143=) | gnomAD v4 |
| 15 | g.90761116A>T | CA492301777 | BLM | c.1743A>T (p.Thr581=) c.*667A>T (n.*667A>T) c.618A>T (p.Thr206=) c.429A>T (p.Thr143=) | |
| 15 | g.90761117G>A | CA393843752 | BLM | c.1744G>A (p.Ala582Thr) c.*668G>A (n.*668G>A) c.619G>A (p.Ala207Thr) c.430G>A (p.Ala144Thr) | dbSNP |
| 15 | g.90761117G>C | CA393843750 | BLM | c.1744G>C (p.Ala582Pro) c.*668G>C (n.*668G>C) c.619G>C (p.Ala207Pro) c.430G>C (p.Ala144Pro) | ClinVar dbSNP |
| 15 | g.90761117G= | CA2195277238 | BLM | c.1744G= (p.Ala582=) c.*668G= (n.*668G=) c.619G= (p.Ala207=) c.430G= (p.Ala144=) | |
| 15 | g.90761117G>T | CA393843751 | BLM | c.1744G>T (p.Ala582Ser) c.*668G>T (n.*668G>T) c.619G>T (p.Ala207Ser) c.430G>T (p.Ala144Ser) | dbSNP |
| 15 | g.90761118C>A | CA393843753 | BLM | c.1745C>A (p.Ala582Asp) c.*669C>A (n.*669C>A) c.620C>A (p.Ala207Asp) c.431C>A (p.Ala144Asp) | |
| 15 | g.90761118C>G | CA393843754 | BLM | c.1745C>G (p.Ala582Gly) c.*669C>G (n.*669C>G) c.620C>G (p.Ala207Gly) c.431C>G (p.Ala144Gly) | |
| 15 | g.90761118C>T | CA393843755 | BLM | c.1745C>T (p.Ala582Val) c.*669C>T (n.*669C>T) c.620C>T (p.Ala207Val) c.431C>T (p.Ala144Val) | |
| 15 | g.90761119T>A | CA492301778 | BLM | c.1746T>A (p.Ala582=) c.*670T>A (n.*670T>A) c.621T>A (p.Ala207=) c.432T>A (p.Ala144=) | |
| 15 | g.90761119T>C | CA492301779 | BLM | c.1746T>C (p.Ala582=) c.*670T>C (n.*670T>C) c.621T>C (p.Ala207=) c.432T>C (p.Ala144=) | |
| 15 | g.90761119T>G | CA492301780 | BLM | c.1746T>G (p.Ala582=) c.*670T>G (n.*670T>G) c.621T>G (p.Ala207=) c.432T>G (p.Ala144=) | |
| 15 | g.90761120G>A | CA393843756 | BLM | c.1747G>A (p.Ala583Thr) c.*671G>A (n.*671G>A) c.622G>A (p.Ala208Thr) c.433G>A (p.Ala145Thr) | dbSNP |
| 15 | g.90761120G>C | CA393843757 | BLM | c.1747G>C (p.Ala583Pro) c.*671G>C (n.*671G>C) c.622G>C (p.Ala208Pro) c.433G>C (p.Ala145Pro) | |
| 15 | g.90761120G= | CA2195277240 | BLM | c.1747G= (p.Ala583=) c.*671G= (n.*671G=) c.622G= (p.Ala208=) c.433G= (p.Ala145=) | |
| 15 | g.90761120G>T | CA274738422 | BLM | c.1747G>T (p.Ala583Ser) c.*671G>T (n.*671G>T) c.622G>T (p.Ala208Ser) c.433G>T (p.Ala145Ser) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90761121C>A | CA393843758 | BLM | c.1748C>A (p.Ala583Asp) c.*672C>A (n.*672C>A) c.623C>A (p.Ala208Asp) c.434C>A (p.Ala145Asp) | |
| 15 | g.90761121C= | CA2195277243 | BLM | c.1748C= (p.Ala583=) c.*672C= (n.*672C=) c.623C= (p.Ala208=) c.434C= (p.Ala145=) | |
| 15 | g.90761121C>G | CA393843759 | BLM | c.1748C>G (p.Ala583Gly) c.*672C>G (n.*672C>G) c.623C>G (p.Ala208Gly) c.434C>G (p.Ala145Gly) | |
| 15 | g.90761121C>T | CA393843760 | BLM | c.1748C>T (p.Ala583Val) c.*672C>T (n.*672C>T) c.623C>T (p.Ala208Val) c.434C>T (p.Ala145Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.90761122C>A | CA492301782 | BLM | c.1749C>A (p.Ala583=) c.*673C>A (n.*673C>A) c.624C>A (p.Ala208=) c.435C>A (p.Ala145=) | gnomAD v4 |
| 15 | g.90761122C= | CA2195277245 | BLM | c.1749C= (p.Ala583=) c.*673C= (n.*673C=) c.624C= (p.Ala208=) c.435C= (p.Ala145=) | |
| 15 | g.90761122C>G | CA274738425 | BLM | c.1749C>G (p.Ala583=) c.*673C>G (n.*673C>G) c.624C>G (p.Ala208=) c.435C>G (p.Ala145=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90761122C>T | CA7738580 | BLM | c.1749C>T (p.Ala583=) c.*673C>T (n.*673C>T) c.624C>T (p.Ala208=) c.435C>T (p.Ala145=) | ClinVar dbSNP ExAC |
| 15 | g.90761123T>A | CA393843761 | BLM | c.1750T>A (p.Tyr584Asn) c.*674T>A (n.*674T>A) c.625T>A (p.Tyr209Asn) c.436T>A (p.Tyr146Asn) | |
| 15 | g.90761123T>C | CA393843763 | BLM | c.1750T>C (p.Tyr584His) c.*674T>C (n.*674T>C) c.625T>C (p.Tyr209His) c.436T>C (p.Tyr146His) | |
| 15 | g.90761123T>G | CA393843762 | BLM | c.1750T>G (p.Tyr584Asp) c.*674T>G (n.*674T>G) c.625T>G (p.Tyr209Asp) c.436T>G (p.Tyr146Asp) | |
| 15 | g.90761124_90761125del | CA912994834 | BLM | c.1751_1752del (p.Tyr584SerfsTer10) c.*675_*676del (n.*675_*676del) c.626_627del (p.Tyr209SerfsTer10) c.437_438del (p.Tyr146SerfsTer10) | |
| 15 | g.90761124A= | CA2195277249 | BLM | c.1751A= (p.Tyr584=) c.*675A= (n.*675A=) c.626A= (p.Tyr209=) c.437A= (p.Tyr146=) | |
| 15 | g.90761124A>C | CA393843764 | BLM | c.1751A>C (p.Tyr584Ser) c.*675A>C (n.*675A>C) c.626A>C (p.Tyr209Ser) c.437A>C (p.Tyr146Ser) | |
| 15 | g.90761124A>G | CA7738581 | BLM | c.1751A>G (p.Tyr584Cys) c.*675A>G (n.*675A>G) c.626A>G (p.Tyr209Cys) c.437A>G (p.Tyr146Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.90761124A>T | CA393843765 | BLM | c.1751A>T (p.Tyr584Phe) c.*675A>T (n.*675A>T) c.626A>T (p.Tyr209Phe) c.437A>T (p.Tyr146Phe) | |
| 15 | g.90761124_90761125delinsAT | CA2195277251 | BLM | c.1751_1752delinsAT (p.Tyr584=) c.*675_*676delinsAT (n.*675_*676delinsAT) c.626_627delinsAT (p.Tyr209=) c.437_438delinsAT (p.Tyr146=) | |
| 15 | g.90761125del | CA658824616 | BLM | c.1752del (p.Gln585AsnfsTer?) c.*676del (n.*676del) c.627del (p.Gln210AsnfsTer?) c.438del (p.Gln147AsnfsTer?) | ClinVar dbSNP |
| 15 | g.90761125T>A | CA393843766 | BLM | c.1752T>A (p.Tyr584Ter) c.*676T>A (n.*676T>A) c.627T>A (p.Tyr209Ter) c.438T>A (p.Tyr146Ter) | |
| 15 | g.90761125T>C | CA492301784 | BLM | c.1752T>C (p.Tyr584=) c.*676T>C (n.*676T>C) c.627T>C (p.Tyr209=) c.438T>C (p.Tyr146=) | |
| 15 | g.90761125T>G | CA393843767 | BLM | c.1752T>G (p.Tyr584Ter) c.*676T>G (n.*676T>G) c.627T>G (p.Tyr209Ter) c.438T>G (p.Tyr146Ter) | |
| 15 | g.90761126C>A | CA393843768 | BLM | c.1753C>A (p.Gln585Lys) c.*677C>A (n.*677C>A) c.628C>A (p.Gln210Lys) c.439C>A (p.Gln147Lys) | ClinVar gnomAD v4 |
| 15 | g.90761126C>G | CA393843769 | BLM | c.1753C>G (p.Gln585Glu) c.*677C>G (n.*677C>G) c.628C>G (p.Gln210Glu) c.439C>G (p.Gln147Glu) | |
| 15 | g.90761126C>T | CA393843770 | BLM | c.1753C>T (p.Gln585Ter) c.*677C>T (n.*677C>T) c.628C>T (p.Gln210Ter) c.439C>T (p.Gln147Ter) | |
| 15 | g.90761127A= | CA2195277253 | BLM | c.1754A= (p.Gln585=) c.*678A= (n.*678A=) c.629A= (p.Gln210=) c.440A= (p.Gln147=) | |
| 15 | g.90761127A>C | CA393843771 | BLM | c.1754A>C (p.Gln585Pro) c.*678A>C (n.*678A>C) c.629A>C (p.Gln210Pro) c.440A>C (p.Gln147Pro) | gnomAD v4 |
| 15 | g.90761127A>G | CA7738582 | BLM | c.1754A>G (p.Gln585Arg) c.*678A>G (n.*678A>G) c.629A>G (p.Gln210Arg) c.440A>G (p.Gln147Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.90761127A>T | CA393843772 | BLM | c.1754A>T (p.Gln585Leu) c.*678A>T (n.*678A>T) c.629A>T (p.Gln210Leu) c.440A>T (p.Gln147Leu) | |
| 15 | g.90761128A>C | CA393843774 | BLM | c.1755A>C (p.Gln585His) c.*679A>C (n.*679A>C) c.630A>C (p.Gln210His) c.441A>C (p.Gln147His) | |
| 15 | g.90761128A>G | CA492301787 | BLM | c.1755A>G (p.Gln585=) c.*679A>G (n.*679A>G) c.630A>G (p.Gln210=) c.441A>G (p.Gln147=) | |
| 15 | g.90761128A>T | CA393843773 | BLM | c.1755A>T (p.Gln585His) c.*679A>T (n.*679A>T) c.630A>T (p.Gln210His) c.441A>T (p.Gln147His) | |
| 15 | g.90761129C>A | CA393843775 | BLM | c.1756C>A (p.Pro586Thr) c.*680C>A (n.*680C>A) c.631C>A (p.Pro211Thr) c.442C>A (p.Pro148Thr) | ClinVar |
| 15 | g.90761129C= | CA2195277255 | BLM | c.1756C= (p.Pro586=) c.*680C= (n.*680C=) c.631C= (p.Pro211=) c.442C= (p.Pro148=) | |
| 15 | g.90761129C>G | CA393843776 | BLM | c.1756C>G (p.Pro586Ala) c.*680C>G (n.*680C>G) c.631C>G (p.Pro211Ala) c.442C>G (p.Pro148Ala) | |
| 15 | g.90761129C>T | CA393843777 | BLM | c.1756C>T (p.Pro586Ser) c.*680C>T (n.*680C>T) c.631C>T (p.Pro211Ser) c.442C>T (p.Pro148Ser) | ClinVar dbSNP |
| 15 | g.90761130C>A | CA393843778 | BLM | c.1757C>A (p.Pro586His) c.*681C>A (n.*681C>A) c.632C>A (p.Pro211His) c.443C>A (p.Pro148His) | dbSNP |
| 15 | g.90761130C>G | CA393843779 | BLM | c.1757C>G (p.Pro586Arg) c.*681C>G (n.*681C>G) c.632C>G (p.Pro211Arg) c.443C>G (p.Pro148Arg) | |
| 15 | g.90761130C>T | CA393843780 | BLM | c.1757C>T (p.Pro586Leu) c.*681C>T (n.*681C>T) c.632C>T (p.Pro211Leu) c.443C>T (p.Pro148Leu) | dbSNP |
| 15 | g.90761131C>A | CA492301789 | BLM | c.1758C>A (p.Pro586=) c.*682C>A (n.*682C>A) c.633C>A (p.Pro211=) c.444C>A (p.Pro148=) | |
| 15 | g.90761131C>G | CA492301791 | BLM | c.1758C>G (p.Pro586=) c.*682C>G (n.*682C>G) c.633C>G (p.Pro211=) c.444C>G (p.Pro148=) | |
| 15 | g.90761131C>T | CA492301792 | BLM | c.1758C>T (p.Pro586=) c.*682C>T (n.*682C>T) c.633C>T (p.Pro211=) c.444C>T (p.Pro148=) | |
| 15 | g.90761132A>C | CA393843781 | BLM | c.1759A>C (p.Ile587Leu) c.*683A>C (n.*683A>C) c.634A>C (p.Ile212Leu) c.445A>C (p.Ile149Leu) | |
| 15 | g.90761132A>G | CA393843782 | BLM | c.1759A>G (p.Ile587Val) c.*683A>G (n.*683A>G) c.634A>G (p.Ile212Val) c.445A>G (p.Ile149Val) | dbSNP |
| 15 | g.90761132A>T | CA393843783 | BLM | c.1759A>T (p.Ile587Phe) c.*683A>T (n.*683A>T) c.634A>T (p.Ile212Phe) c.445A>T (p.Ile149Phe) | |
| 15 | g.90761133T>A | CA393843784 | BLM | c.1760T>A (p.Ile587Asn) c.*684T>A (n.*684T>A) c.635T>A (p.Ile212Asn) c.446T>A (p.Ile149Asn) | |
| 15 | g.90761133T>C | CA393843785 | BLM | c.1760T>C (p.Ile587Thr) c.*684T>C (n.*684T>C) c.635T>C (p.Ile212Thr) c.446T>C (p.Ile149Thr) | |
| 15 | g.90761133T>G | CA393843786 | BLM | c.1760T>G (p.Ile587Ser) c.*684T>G (n.*684T>G) c.635T>G (p.Ile212Ser) c.446T>G (p.Ile149Ser) | |
| 15 | g.90761133_90761147delinsTCAAGGAAGGTCGGC | CA2195277258 | BLM | c.1760_1774delinsTCAAGGAAGGTCGGC (p.Ile587=) c.*684_*698delinsTCAAGGAAGGTCGGC (n.*684_*698delinsTCAAGGAAGGTCGGC) c.635_649delinsTCAAGGAAGGTCGGC (p.Ile212=) c.446_460delinsTCAAGGAAGGTCGGC (p.Ile149=) | |
| 15 | g.90761134C>A | CA492301793 | BLM | c.1761C>A (p.Ile587=) c.*685C>A (n.*685C>A) c.636C>A (p.Ile212=) c.447C>A (p.Ile149=) | |
| 15 | g.90761134C>G | CA393843787 | BLM | c.1761C>G (p.Ile587Met) c.*685C>G (n.*685C>G) c.636C>G (p.Ile212Met) c.447C>G (p.Ile149Met) | ClinVar dbSNP |
| 15 | g.90761134C>T | CA492301794 | BLM | c.1761C>T (p.Ile587=) c.*685C>T (n.*685C>T) c.636C>T (p.Ile212=) c.447C>T (p.Ile149=) | ClinVar |
| 15 | g.90761137_90761150del | CA16041773 | BLM | c.1764_1777del (p.Lys588AsnfsTer2) c.*688_*701del (n.*688_*701del) c.639_652del (p.Lys213AsnfsTer2) c.450_463del (p.Lys150AsnfsTer2) | ClinVar dbSNP |
| 15 | g.90761135A>C | CA393843790 | BLM | c.1762A>C (p.Lys588Gln) c.*686A>C (n.*686A>C) c.637A>C (p.Lys213Gln) c.448A>C (p.Lys150Gln) | |
| 15 | g.90761135A>G | CA393843788 | BLM | c.1762A>G (p.Lys588Glu) c.*686A>G (n.*686A>G) c.637A>G (p.Lys213Glu) c.448A>G (p.Lys150Glu) | dbSNP |
| 15 | g.90761135A>T | CA393843789 | BLM | c.1762A>T (p.Lys588Ter) c.*686A>T (n.*686A>T) c.637A>T (p.Lys213Ter) c.448A>T (p.Lys150Ter) | |
| 15 | g.90761136del | CA2580090391 | BLM | c.1763del (p.Lys588ArgfsTer30) c.*687del (n.*687del) c.638del (p.Lys213ArgfsTer30) c.449del (p.Lys150ArgfsTer30) | ClinVar |
| 15 | g.90761136A>C | CA393843791 | BLM | c.1763A>C (p.Lys588Thr) c.*687A>C (n.*687A>C) c.638A>C (p.Lys213Thr) c.449A>C (p.Lys150Thr) | ClinVar |
| 15 | g.90761136A>G | CA393843792 | BLM | c.1763A>G (p.Lys588Arg) c.*687A>G (n.*687A>G) c.638A>G (p.Lys213Arg) c.449A>G (p.Lys150Arg) | |
| 15 | g.90761136A>T | CA393843793 | BLM | c.1763A>T (p.Lys588Met) c.*687A>T (n.*687A>T) c.638A>T (p.Lys213Met) c.449A>T (p.Lys150Met) | |
| 15 | g.90761137G>A | CA492301796 | BLM | c.1764G>A (p.Lys588=) c.*688G>A (n.*688G>A) c.639G>A (p.Lys213=) c.450G>A (p.Lys150=) | ClinVar dbSNP |
| 15 | g.90761137G>C | CA393843794 | BLM | c.1764G>C (p.Lys588Asn) c.*688G>C (n.*688G>C) c.639G>C (p.Lys213Asn) c.450G>C (p.Lys150Asn) | dbSNP |
| 15 | g.90761137G= | CA2195277261 | BLM | c.1764G= (p.Lys588=) c.*688G= (n.*688G=) c.639G= (p.Lys213=) c.450G= (p.Lys150=) | |
| 15 | g.90761137G>T | CA393843795 | BLM | c.1764G>T (p.Lys588Asn) c.*688G>T (n.*688G>T) c.639G>T (p.Lys213Asn) c.450G>T (p.Lys150Asn) | |
| 15 | g.90761138del | CA2697549376 | BLM | c.1765del (p.Glu589LysfsTer29) c.*689del (n.*689del) c.640del (p.Glu214LysfsTer29) c.451del (p.Glu151LysfsTer29) | ClinVar |
| 15 | g.90761138G>A | CA393843796 | BLM | c.1765G>A (p.Glu589Lys) c.*689G>A (n.*689G>A) c.640G>A (p.Glu214Lys) c.451G>A (p.Glu151Lys) | ClinVar |
| 15 | g.90761138G>C | CA393843798 | BLM | c.1765G>C (p.Glu589Gln) c.*689G>C (n.*689G>C) c.640G>C (p.Glu214Gln) c.451G>C (p.Glu151Gln) | |
| 15 | g.90761138G>T | CA393843797 | BLM | c.1765G>T (p.Glu589Ter) c.*689G>T (n.*689G>T) c.640G>T (p.Glu214Ter) c.451G>T (p.Glu151Ter) | COSMIC |
| 15 | g.90761139A>C | CA393843799 | BLM | c.1766A>C (p.Glu589Ala) c.*690A>C (n.*690A>C) c.641A>C (p.Glu214Ala) c.452A>C (p.Glu151Ala) | |
| 15 | g.90761139A>G | CA393843800 | BLM | c.1766A>G (p.Glu589Gly) c.*690A>G (n.*690A>G) c.641A>G (p.Glu214Gly) c.452A>G (p.Glu151Gly) | |
| 15 | g.90761139A>T | CA393843801 | BLM | c.1766A>T (p.Glu589Val) c.*690A>T (n.*690A>T) c.641A>T (p.Glu214Val) c.452A>T (p.Glu151Val) | |
| 15 | g.90761140A>C | CA393843802 | BLM | c.1767A>C (p.Glu589Asp) c.*691A>C (n.*691A>C) c.642A>C (p.Glu214Asp) c.453A>C (p.Glu151Asp) | |
| 15 | g.90761140A>G | CA492301798 | BLM | c.1767A>G (p.Glu589=) c.*691A>G (n.*691A>G) c.642A>G (p.Glu214=) c.453A>G (p.Glu151=) | ClinVar dbSNP |
| 15 | g.90761140A>T | CA393843803 | BLM | c.1767A>T (p.Glu589Asp) c.*691A>T (n.*691A>T) c.642A>T (p.Glu214Asp) c.453A>T (p.Glu151Asp) | |
| 15 | g.90761141G>A | CA393843806 | BLM | c.1768G>A (p.Gly590Ser) c.*692G>A (n.*692G>A) c.643G>A (p.Gly215Ser) c.454G>A (p.Gly152Ser) | dbSNP |
| 15 | g.90761141G>C | CA393843804 | BLM | c.1768G>C (p.Gly590Arg) c.*692G>C (n.*692G>C) c.643G>C (p.Gly215Arg) c.454G>C (p.Gly152Arg) | |
| 15 | g.90761141G= | CA2195277262 | BLM | c.1768G= (p.Gly590=) c.*692G= (n.*692G=) c.643G= (p.Gly215=) c.454G= (p.Gly152=) | |
| 15 | g.90761141G>T | CA393843805 | BLM | c.1768G>T (p.Gly590Cys) c.*692G>T (n.*692G>T) c.643G>T (p.Gly215Cys) c.454G>T (p.Gly152Cys) | |
| 15 | g.90761142G>A | CA393843807 | BLM | c.1769G>A (p.Gly590Asp) c.*693G>A (n.*693G>A) c.644G>A (p.Gly215Asp) c.455G>A (p.Gly152Asp) | |
| 15 | g.90761142G>C | CA7738583 | BLM | c.1769G>C (p.Gly590Ala) c.*693G>C (n.*693G>C) c.644G>C (p.Gly215Ala) c.455G>C (p.Gly152Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.90761142G= | CA2195277263 | BLM | c.1769G= (p.Gly590=) c.*693G= (n.*693G=) c.644G= (p.Gly215=) c.455G= (p.Gly152=) | |
| 15 | g.90761142G>T | CA393843808 | BLM | c.1769G>T (p.Gly590Val) c.*693G>T (n.*693G>T) c.644G>T (p.Gly215Val) c.455G>T (p.Gly152Val) | |
| 15 | g.90761143_90761145dup | CA2580090392 | BLM | c.1770_1772dup (p.Arg591_Pro592insArg) c.*694_*696dup (n.*694_*696dup) c.645_647dup (p.Arg216_Pro217insArg) c.456_458dup (p.Arg153_Pro154insArg) | ClinVar |
| 15 | g.90761143T>A | CA492301801 | BLM | c.1770T>A (p.Gly590=) c.*694T>A (n.*694T>A) c.645T>A (p.Gly215=) c.456T>A (p.Gly152=) | |
| 15 | g.90761143T>C | CA492301802 | BLM | c.1770T>C (p.Gly590=) c.*694T>C (n.*694T>C) c.645T>C (p.Gly215=) c.456T>C (p.Gly152=) | ClinVar |
| 15 | g.90761143T>G | CA492301803 | BLM | c.1770T>G (p.Gly590=) c.*694T>G (n.*694T>G) c.645T>G (p.Gly215=) c.456T>G (p.Gly152=) | |
| 15 | g.90761144C>A | CA492301804 | BLM | c.1771C>A (p.Arg591=) c.*695C>A (n.*695C>A) c.646C>A (p.Arg216=) c.457C>A (p.Arg153=) | |
| 15 | g.90761144C= | CA2195277266 | BLM | c.1771C= (p.Arg591=) c.*695C= (n.*695C=) c.646C= (p.Arg216=) c.457C= (p.Arg153=) | |
| 15 | g.90761144C>G | CA393843809 | BLM | c.1771C>G (p.Arg591Gly) c.*695C>G (n.*695C>G) c.646C>G (p.Arg216Gly) c.457C>G (p.Arg153Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.90761144C>T | CA7738584 | BLM | c.1771C>T (p.Arg591Trp) c.*695C>T (n.*695C>T) c.646C>T (p.Arg216Trp) c.457C>T (p.Arg153Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.90761145G>A | CA7738585 | BLM | c.1772G>A (p.Arg591Gln) c.*696G>A (n.*696G>A) c.647G>A (p.Arg216Gln) c.458G>A (p.Arg153Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90761145G>C | CA393843811 | BLM | c.1772G>C (p.Arg591Pro) c.*696G>C (n.*696G>C) c.647G>C (p.Arg216Pro) c.458G>C (p.Arg153Pro) | |
| 15 | g.90761145G= | CA2195277268 | BLM | c.1772G= (p.Arg591=) c.*696G= (n.*696G=) c.647G= (p.Arg216=) c.458G= (p.Arg153=) | |
| 15 | g.90761145G>T | CA393843810 | BLM | c.1772G>T (p.Arg591Leu) c.*696G>T (n.*696G>T) c.647G>T (p.Arg216Leu) c.458G>T (p.Arg153Leu) | |
| 15 | g.90761146G>A | CA492301805 | BLM | c.1773G>A (p.Arg591=) c.*697G>A (n.*697G>A) c.648G>A (p.Arg216=) c.459G>A (p.Arg153=) | ClinVar dbSNP |
| 15 | g.90761146G>C | CA492301806 | BLM | c.1773G>C (p.Arg591=) c.*697G>C (n.*697G>C) c.648G>C (p.Arg216=) c.459G>C (p.Arg153=) | |
| 15 | g.90761146G= | CA2195277271 | BLM | c.1773G= (p.Arg591=) c.*697G= (n.*697G=) c.648G= (p.Arg216=) c.459G= (p.Arg153=) | |
| 15 | g.90761146G>T | CA492301807 | BLM | c.1773G>T (p.Arg591=) c.*697G>T (n.*697G>T) c.648G>T (p.Arg216=) c.459G>T (p.Arg153=) | |
| 15 | g.90761147C>A | CA393843812 | BLM | c.1774C>A (p.Pro592Thr) c.*698C>A (n.*698C>A) c.649C>A (p.Pro217Thr) c.460C>A (p.Pro154Thr) | dbSNP gnomAD v4 |
| 15 | g.90761147C= | CA2195277273 | BLM | c.1774C= (p.Pro592=) c.*698C= (n.*698C=) c.649C= (p.Pro217=) c.460C= (p.Pro154=) | |
| 15 | g.90761147C>G | CA393843813 | BLM | c.1774C>G (p.Pro592Ala) c.*698C>G (n.*698C>G) c.649C>G (p.Pro217Ala) c.460C>G (p.Pro154Ala) | |
| 15 | g.90761147C>T | CA393843814 | BLM | c.1774C>T (p.Pro592Ser) c.*698C>T (n.*698C>T) c.649C>T (p.Pro217Ser) c.460C>T (p.Pro154Ser) | ClinVar dbSNP gnomAD v2 |
| 15 | g.90761148C>A | CA393843815 | BLM | c.1775C>A (p.Pro592Gln) c.*699C>A (n.*699C>A) c.650C>A (p.Pro217Gln) c.461C>A (p.Pro154Gln) | |
| 15 | g.90761148C>G | CA393843816 | BLM | c.1775C>G (p.Pro592Arg) c.*699C>G (n.*699C>G) c.650C>G (p.Pro217Arg) c.461C>G (p.Pro154Arg) | |
| 15 | g.90761148C>T | CA393843817 | BLM | c.1775C>T (p.Pro592Leu) c.*699C>T (n.*699C>T) c.650C>T (p.Pro217Leu) c.461C>T (p.Pro154Leu) | ClinVar dbSNP |
| 15 | g.90761149A>C | CA492301809 | BLM | c.1776A>C (p.Pro592=) c.*700A>C (n.*700A>C) c.651A>C (p.Pro217=) c.462A>C (p.Pro154=) | |
| 15 | g.90761149A>G | CA492301810 | BLM | c.1776A>G (p.Pro592=) c.*700A>G (n.*700A>G) c.651A>G (p.Pro217=) c.462A>G (p.Pro154=) | |
| 15 | g.90761149A>T | CA492301811 | BLM | c.1776A>T (p.Pro592=) c.*700A>T (n.*700A>T) c.651A>T (p.Pro217=) c.462A>T (p.Pro154=) |