Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 |