Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.235052481_235052516delCA766410861SH3BP4c.2479-81_2479-46del (n.2479-81_2479-46del)
dbSNP gnomAD v4
2g.235052508_235052522delCA2663754339SH3BP4c.2479-54_2479-40del (n.2479-54_2479-40del)
gnomAD v4
2g.235052516C>ACA540444712SH3BP4c.2479-46C>A (n.2479-46C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.235052516C=CA1336501532SH3BP4c.2479-46C= (n.2479-46C=)
2g.235052516C>TCA2663754351SH3BP4c.2479-46C>T (n.2479-46C>T)
gnomAD v4
2g.235052519delCA2663754350SH3BP4c.2479-43del (n.2479-43del)
gnomAD v4
2g.235052517C>ACA2663754352SH3BP4c.2479-45C>A (n.2479-45C>A)
gnomAD v4
2g.235052517C>TCA2577384625SH3BP4c.2479-45C>T (n.2479-45C>T)
gnomAD v4
2g.235052518C>ACA540444714SH3BP4c.2479-44C>A (n.2479-44C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.235052518C=CA1336501533SH3BP4c.2479-44C= (n.2479-44C=)
2g.235052518C>TCA540444713SH3BP4c.2479-44C>T (n.2479-44C>T)
dbSNP gnomAD v2 gnomAD v4
2g.235052519C>ACA2663754353SH3BP4c.2479-43C>A (n.2479-43C>A)
gnomAD v4
2g.235052519C=CA1336501534SH3BP4c.2479-43C= (n.2479-43C=)
2g.235052519C>TCA540444715SH3BP4c.2479-43C>T (n.2479-43C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.235052520A>TCA2663754354SH3BP4c.2479-42A>T (n.2479-42A>T)
gnomAD v4
2g.235052521C>ACA2663754356SH3BP4c.2479-41C>A (n.2479-41C>A)
gnomAD v4
2g.235052521C>TCA2663754355SH3BP4c.2479-41C>T (n.2479-41C>T)
gnomAD v4
2g.235052522T>ACA2577384626SH3BP4c.2479-40T>A (n.2479-40T>A)
2g.235052522T>CCA2663754357SH3BP4c.2479-40T>C (n.2479-40T>C)
gnomAD v4
2g.235052523C>ACA2663754359SH3BP4c.2479-39C>A (n.2479-39C>A)
gnomAD v4
2g.235052523C=CA1336501535SH3BP4c.2479-39C= (n.2479-39C=)
2g.235052523C>GCA540444716SH3BP4c.2479-39C>G (n.2479-39C>G)
dbSNP gnomAD v2 gnomAD v4
2g.235052523C>TCA1336501536SH3BP4c.2479-39C>T (n.2479-39C>T)
dbSNP gnomAD v4
2g.235052525delCA2663754360SH3BP4c.2479-37del (n.2479-37del)
gnomAD v4
2g.235052524_235052525delCA2663754358SH3BP4c.2479-38_2479-37del (n.2479-38_2479-37del)
gnomAD v4
2g.235052525C>ACA2663754361SH3BP4c.2479-37C>A (n.2479-37C>A)
gnomAD v4
2g.235052526delCA2663754362SH3BP4c.2479-36del (n.2479-36del)
gnomAD v4
2g.235052526T>CCA2663754363SH3BP4c.2479-36T>C (n.2479-36T>C)
gnomAD v4
2g.235052527delCA2663754364SH3BP4c.2479-35del (n.2479-35del)
gnomAD v4
2g.235052527A=CA1336501537SH3BP4c.2479-35A= (n.2479-35A=)
2g.235052527A>GCA2184010SH3BP4c.2479-35A>G (n.2479-35A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.235052528C>ACA2663754365SH3BP4c.2479-34C>A (n.2479-34C>A)
gnomAD v4
2g.235052528C=CA1336501538SH3BP4c.2479-34C= (n.2479-34C=)
2g.235052528C>TCA540444717SH3BP4c.2479-34C>T (n.2479-34C>T)
dbSNP gnomAD v2 gnomAD v4
2g.235052529A=CA1336501539SH3BP4c.2479-33A= (n.2479-33A=)
2g.235052529A>GCA540444718SH3BP4c.2479-33A>G (n.2479-33A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.235052530C>ACA2663754366SH3BP4c.2479-32C>A (n.2479-32C>A)
gnomAD v4
2g.235052530C=CA1336501540SH3BP4c.2479-32C= (n.2479-32C=)
2g.235052530C>TCA540444719SH3BP4c.2479-32C>T (n.2479-32C>T)
dbSNP gnomAD v2 gnomAD v4
2g.235052531T>CCA2663754368SH3BP4c.2479-31T>C (n.2479-31T>C)
gnomAD v4
2g.235052532G>TCA2663754369SH3BP4c.2479-30G>T (n.2479-30G>T)
gnomAD v4
2g.235052533T>ACA1336501542SH3BP4c.2479-29T>A (n.2479-29T>A)
dbSNP
2g.235052533T>CCA2663754370SH3BP4c.2479-29T>C (n.2479-29T>C)
gnomAD v4
2g.235052533T=CA1336501541SH3BP4c.2479-29T= (n.2479-29T=)
2g.235052534C>ACA2663754371SH3BP4c.2479-28C>A (n.2479-28C>A)
gnomAD v4
2g.235052534C=CA1336501543SH3BP4c.2479-28C= (n.2479-28C=)
2g.235052534C>TCA1043639760SH3BP4c.2479-28C>T (n.2479-28C>T)
dbSNP gnomAD v3 gnomAD v4
2g.235052536C>ACA2663754372SH3BP4c.2479-26C>A (n.2479-26C>A)
gnomAD v4
2g.235052536C>GCA2663754373SH3BP4c.2479-26C>G (n.2479-26C>G)
dbSNP gnomAD v4
2g.235052536C>TCA2663754374SH3BP4c.2479-26C>T (n.2479-26C>T)
gnomAD v4
2g.235052537A>GCA2663754375SH3BP4c.2479-25A>G (n.2479-25A>G)
gnomAD v4
2g.235052538C=CA1336501544SH3BP4c.2479-24C= (n.2479-24C=)
2g.235052538C>GCA540444721SH3BP4c.2479-24C>G (n.2479-24C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.235052538C>TCA540444720SH3BP4c.2479-24C>T (n.2479-24C>T)
dbSNP gnomAD v2 gnomAD v4
2g.235052539G>ACA2184012SH3BP4c.2479-23G>A (n.2479-23G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.235052539G=CA1336501545SH3BP4c.2479-23G= (n.2479-23G=)
2g.235052539G>TCA2184011SH3BP4c.2479-23G>T (n.2479-23G>T)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.235052540C>ACA2663754376SH3BP4c.2479-22C>A (n.2479-22C>A)
gnomAD v4
2g.235052541T>CCA2663754377SH3BP4c.2479-21T>C (n.2479-21T>C)
gnomAD v4
2g.235052541T>GCA766410901SH3BP4c.2479-21T>G (n.2479-21T>G)
dbSNP gnomAD v3 gnomAD v4
2g.235052541T=CA1336501546SH3BP4c.2479-21T= (n.2479-21T=)
2g.235052542G>ACA766410904SH3BP4c.2479-20G>A (n.2479-20G>A)
dbSNP
2g.235052542G=CA1336501547SH3BP4c.2479-20G= (n.2479-20G=)
2g.235052542G>TCA2663754378SH3BP4c.2479-20G>T (n.2479-20G>T)
gnomAD v4
2g.235052544G>ACA540444722SH3BP4c.2479-18G>A (n.2479-18G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.235052544G=CA1336501548SH3BP4c.2479-18G= (n.2479-18G=)
2g.235052546G>ACA2577384627SH3BP4c.2479-16G>A (n.2479-16G>A)
gnomAD v4
2g.235052546G>TCA2663754379SH3BP4c.2479-16G>T (n.2479-16G>T)
gnomAD v4
2g.235052547C>ACA2663754380SH3BP4c.2479-15C>A (n.2479-15C>A)
gnomAD v4
2g.235052547C>TCA2663754381SH3BP4c.2479-15C>T (n.2479-15C>T)
gnomAD v4
2g.235052548C=CA1336501549SH3BP4c.2479-14C= (n.2479-14C=)
2g.235052548C>GCA540444723SH3BP4c.2479-14C>G (n.2479-14C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.235052548C>TCA2663754382SH3BP4c.2479-14C>T (n.2479-14C>T)
gnomAD v4
2g.235052551T>ACA2754728198SH3BP4c.2479-11T>A (n.2479-11T>A)
2g.235052554_235052556delCA2663754383SH3BP4c.2479-8_2479-6del (n.2479-8_2479-6del)
gnomAD v4
2g.235052553C=CA1336501550SH3BP4c.2479-9C= (n.2479-9C=)
2g.235052553C>TCA1336501551SH3BP4c.2479-9C>T (n.2479-9C>T)
dbSNP
2g.235052554C>ACA2663754384SH3BP4c.2479-8C>A (n.2479-8C>A)
gnomAD v4
2g.235052554C>TCA2663754385SH3BP4c.2479-8C>T (n.2479-8C>T)
gnomAD v4
2g.235052555T>CCA2663754386SH3BP4c.2479-7T>C (n.2479-7T>C)
gnomAD v4
2g.235052556C>ACA2663754387SH3BP4c.2479-6C>A (n.2479-6C>A)
gnomAD v4
2g.235052556C=CA1336501552SH3BP4c.2479-6C= (n.2479-6C=)
2g.235052556C>TCA1336501553SH3BP4c.2479-6C>T (n.2479-6C>T)
dbSNP gnomAD v4
2g.235052558G>ACA2184013SH3BP4c.2479-4G>A (n.2479-4G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.235052558G=CA1336501554SH3BP4c.2479-4G= (n.2479-4G=)
2g.235052558G>TCA2663754388SH3BP4c.2479-4G>T (n.2479-4G>T)
gnomAD v4
2g.235052559C>ACA540444724SH3BP4c.2479-3C>A (n.2479-3C>A)
dbSNP gnomAD v2 gnomAD v4
2g.235052559C=CA1336501555SH3BP4c.2479-3C= (n.2479-3C=)
2g.235052559C>TCA2663754390SH3BP4c.2479-3C>T (n.2479-3C>T)
gnomAD v4
2g.235052560A>CCA351164762SH3BP4c.2479-2A>C (n.2479-2A>C)
2g.235052560A>GCA351164763SH3BP4c.2479-2A>G (n.2479-2A>G)
2g.235052560A>TCA351164764SH3BP4c.2479-2A>T (n.2479-2A>T)
gnomAD v4
2g.235052561G>ACA351164765SH3BP4c.2479-1G>A (n.2479-1G>A)
2g.235052561G>CCA351164766SH3BP4c.2479-1G>C (n.2479-1G>C)
2g.235052561G=CA1336501556SH3BP4c.2479-1G= (n.2479-1G=)
2g.235052561G>TCA351164767SH3BP4c.2479-1G>T (n.2479-1G>T)
dbSNP gnomAD v2
2g.235052562G>ACA351164768SH3BP4c.2479G>A (p.Ala827Thr)
gnomAD v4
2g.235052562G>CCA351164769SH3BP4c.2479G>C (p.Ala827Pro)
2g.235052562G>TCA351164770SH3BP4c.2479G>T (p.Ala827Ser)
2g.235052563C>ACA351164771SH3BP4c.2480C>A (p.Ala827Asp)
gnomAD v4
2g.235052563C>GCA351164773SH3BP4c.2480C>G (p.Ala827Gly)
2g.235052563C>TCA351164772SH3BP4c.2480C>T (p.Ala827Val)
gnomAD v4
2g.235052565delCA2754728199SH3BP4c.2482del (p.Leu828TyrfsTer2)
2g.235052564C>ACA431875737SH3BP4c.2481C>A (p.Ala827=)
gnomAD v4
2g.235052564C=CA1336501557SH3BP4c.2481C= (p.Ala827=)
2g.235052564C>GCA431875738SH3BP4c.2481C>G (p.Ala827=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.235052564C>TCA431875739SH3BP4c.2481C>T (p.Ala827=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.235052565C>ACA351164774SH3BP4c.2482C>A (p.Leu828Ile)
gnomAD v4
2g.235052565C=CA1336501558SH3BP4c.2482C= (p.Leu828=)
2g.235052565C>GCA351164775SH3BP4c.2482C>G (p.Leu828Val)
2g.235052565C>TCA2184014SH3BP4c.2482C>T (p.Leu828=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.235052566T>ACA351164776SH3BP4c.2483T>A (p.Leu828Gln)
2g.235052566T>CCA351164778SH3BP4c.2483T>C (p.Leu828Pro)
dbSNP gnomAD v2 gnomAD v4
2g.235052566T>GCA351164777SH3BP4c.2483T>G (p.Leu828Arg)
2g.235052566T=CA1336501559SH3BP4c.2483T= (p.Leu828=)
2g.235052567A=CA1336501560SH3BP4c.2484A= (p.Leu828=)
2g.235052567A>CCA431875741SH3BP4c.2484A>C (p.Leu828=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.235052567A>GCA431875742SH3BP4c.2484A>G (p.Leu828=)
dbSNP gnomAD v3 gnomAD v4
2g.235052567A>TCA431875740SH3BP4c.2484A>T (p.Leu828=)
2g.235052568C>ACA351164779SH3BP4c.2485C>A (p.Leu829Met)
2g.235052568C>GCA351164780SH3BP4c.2485C>G (p.Leu829Val)
2g.235052568C>TCA431875743SH3BP4c.2485C>T (p.Leu829=)
2g.235052569T>ACA351164781SH3BP4c.2486T>A (p.Leu829Gln)
2g.235052569T>CCA351164782SH3BP4c.2486T>C (p.Leu829Pro)
2g.235052569T>GCA351164783SH3BP4c.2486T>G (p.Leu829Arg)
2g.235052570G>ACA431875745SH3BP4c.2487G>A (p.Leu829=)
dbSNP gnomAD v2 gnomAD v4
2g.235052570G>CCA431875744SH3BP4c.2487G>C (p.Leu829=)
2g.235052570G=CA1336501561SH3BP4c.2487G= (p.Leu829=)
2g.235052570G>TCA431875746SH3BP4c.2487G>T (p.Leu829=)
gnomAD v4
2g.235052571A=CA1336501562SH3BP4c.2488A= (p.Lys830=)
2g.235052571A>CCA351164784SH3BP4c.2488A>C (p.Lys830Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.235052571A>GCA351164785SH3BP4c.2488A>G (p.Lys830Glu)
2g.235052571A>TCA351164786SH3BP4c.2488A>T (p.Lys830Ter)
2g.235052572delCA2663754392SH3BP4c.2489del (p.Lys830ArgfsTer18)
gnomAD v4
2g.235052572A>CCA351164787SH3BP4c.2489A>C (p.Lys830Thr)
2g.235052572A>GCA351164788SH3BP4c.2489A>G (p.Lys830Arg)
gnomAD v4
2g.235052572A>TCA351164789SH3BP4c.2489A>T (p.Lys830Met)
2g.235052573G>ACA431875747SH3BP4c.2490G>A (p.Lys830=)
2g.235052573G>CCA351164790SH3BP4c.2490G>C (p.Lys830Asn)
2g.235052573G>TCA351164791SH3BP4c.2490G>T (p.Lys830Asn)
gnomAD v4
2g.235052574A>CCA351164794SH3BP4c.2491A>C (p.Met831Leu)
2g.235052574A>GCA351164792SH3BP4c.2491A>G (p.Met831Val)
gnomAD v4
2g.235052574A>TCA351164793SH3BP4c.2491A>T (p.Met831Leu)
gnomAD v4
2g.235052575T>ACA351164795SH3BP4c.2492T>A (p.Met831Lys)
2g.235052575T>CCA351164796SH3BP4c.2492T>C (p.Met831Thr)
dbSNP gnomAD v3 gnomAD v4
2g.235052575T>GCA351164797SH3BP4c.2492T>G (p.Met831Arg)
2g.235052575T=CA1336501563SH3BP4c.2492T= (p.Met831=)
2g.235052576G>ACA351164798SH3BP4c.2493G>A (p.Met831Ile)
dbSNP gnomAD v4
2g.235052576G>CCA351164799SH3BP4c.2493G>C (p.Met831Ile)
2g.235052576G=CA1336501564SH3BP4c.2493G= (p.Met831=)
2g.235052576G>TCA351164800SH3BP4c.2493G>T (p.Met831Ile)
gnomAD v4
2g.235052577G>ACA351164801SH3BP4c.2494G>A (p.Asp832Asn)
dbSNP gnomAD v4
2g.235052577G>CCA351164802SH3BP4c.2494G>C (p.Asp832His)
2g.235052577G=CA1336501565SH3BP4c.2494G= (p.Asp832=)
2g.235052577G>TCA351164803SH3BP4c.2494G>T (p.Asp832Tyr)
2g.235052578A>CCA351164804SH3BP4c.2495A>C (p.Asp832Ala)
2g.235052578A>GCA351164805SH3BP4c.2495A>G (p.Asp832Gly)
2g.235052578A>TCA351164806SH3BP4c.2495A>T (p.Asp832Val)
2g.235052579C>ACA351164807SH3BP4c.2496C>A (p.Asp832Glu)
2g.235052579C=CA1336501566SH3BP4c.2496C= (p.Asp832=)
2g.235052579C>GCA351164808SH3BP4c.2496C>G (p.Asp832Glu)
2g.235052579C>TCA431875748SH3BP4c.2496C>T (p.Asp832=)
dbSNP gnomAD v2 gnomAD v4
2g.235052580T>ACA351164809SH3BP4c.2497T>A (p.Cys833Ser)
2g.235052580T>CCA351164810SH3BP4c.2497T>C (p.Cys833Arg)
2g.235052580T>GCA351164811SH3BP4c.2497T>G (p.Cys833Gly)
2g.235052581G>ACA351164812SH3BP4c.2498G>A (p.Cys833Tyr)
gnomAD v4 COSMIC
2g.235052581G>CCA351164813SH3BP4c.2498G>C (p.Cys833Ser)
2g.235052581G>TCA351164814SH3BP4c.2498G>T (p.Cys833Phe)
gnomAD v4
2g.235052582C>ACA351164815SH3BP4c.2499C>A (p.Cys833Ter)
2g.235052582C>GCA351164816SH3BP4c.2499C>G (p.Cys833Trp)
2g.235052582C>TCA431875749SH3BP4c.2499C>T (p.Cys833=)
gnomAD v4
2g.235052583C>ACA351164817SH3BP4c.2500C>A (p.Gln834Lys)
2g.235052583C=CA1336501567SH3BP4c.2500C= (p.Gln834=)
2g.235052583C>GCA351164818SH3BP4c.2500C>G (p.Gln834Glu)
2g.235052583C>TCA351164819SH3BP4c.2500C>T (p.Gln834Ter)
dbSNP gnomAD v2 gnomAD v4
2g.235052584A>CCA351164820SH3BP4c.2501A>C (p.Gln834Pro)
2g.235052584A>GCA351164821SH3BP4c.2501A>G (p.Gln834Arg)
gnomAD v4
2g.235052584A>TCA351164822SH3BP4c.2501A>T (p.Gln834Leu)
gnomAD v4
2g.235052585G>ACA431875750SH3BP4c.2502G>A (p.Gln834=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.235052585G>CCA351164823SH3BP4c.2502G>C (p.Gln834His)
2g.235052585G=CA1336501568SH3BP4c.2502G= (p.Gln834=)
2g.235052585G>TCA351164824SH3BP4c.2502G>T (p.Gln834His)
2g.235052587delCA2663754393SH3BP4c.2504del (p.Gly835AlafsTer13)
gnomAD v4
2g.235052586G>ACA351164825SH3BP4c.2503G>A (p.Gly835Ser)
dbSNP gnomAD v2
2g.235052586G>CCA351164826SH3BP4c.2503G>C (p.Gly835Arg)
2g.235052586G=CA1336501569SH3BP4c.2503G= (p.Gly835=)
2g.235052586G>TCA351164827SH3BP4c.2503G>T (p.Gly835Cys)
gnomAD v4
2g.235052587G>ACA351164828SH3BP4c.2504G>A (p.Gly835Asp)
2g.235052587G>CCA351164829SH3BP4c.2504G>C (p.Gly835Ala)
2g.235052587G>TCA351164830SH3BP4c.2504G>T (p.Gly835Val)
gnomAD v4
2g.235052588C>ACA431875751SH3BP4c.2505C>A (p.Gly835=)
2g.235052588C>GCA431875752SH3BP4c.2505C>G (p.Gly835=)
2g.235052588C>TCA431875753SH3BP4c.2505C>T (p.Gly835=)
gnomAD v4
2g.235052589C>ACA351164831SH3BP4c.2506C>A (p.Leu836Met)
2g.235052589C>GCA351164832SH3BP4c.2506C>G (p.Leu836Val)
2g.235052589C>TCA431875754SH3BP4c.2506C>T (p.Leu836=)
2g.235052590T>ACA351164833SH3BP4c.2507T>A (p.Leu836Gln)
2g.235052590T>CCA351164834SH3BP4c.2507T>C (p.Leu836Pro)
gnomAD v4
2g.235052590T>GCA351164835SH3BP4c.2507T>G (p.Leu836Arg)
2g.235052591G>ACA2184015SH3BP4c.2508G>A (p.Leu836=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.235052591G>CCA431875756SH3BP4c.2508G>C (p.Leu836=)
gnomAD v4
2g.235052591G=CA1336501570SH3BP4c.2508G= (p.Leu836=)
2g.235052591G>TCA431875755SH3BP4c.2508G>T (p.Leu836=)
gnomAD v4
2g.235052592G>ACA351164838SH3BP4c.2509G>A (p.Val837Met)
gnomAD v4
2g.235052592G>CCA351164836SH3BP4c.2509G>C (p.Val837Leu)
2g.235052592G>TCA351164837SH3BP4c.2509G>T (p.Val837Leu)
gnomAD v4
2g.235052593T>ACA351164839SH3BP4c.2510T>A (p.Val837Glu)
2g.235052593T>CCA351164840SH3BP4c.2510T>C (p.Val837Ala)
2g.235052593T>GCA351164841SH3BP4c.2510T>G (p.Val837Gly)
2g.235052594G>ACA431875758SH3BP4c.2511G>A (p.Val837=)
2g.235052594G>CCA431875757SH3BP4c.2511G>C (p.Val837=)
2g.235052594G>TCA431875759SH3BP4c.2511G>T (p.Val837=)
2g.235052595delCA2663754394SH3BP4c.2512del (p.Val838SerfsTer10)
gnomAD v4
2g.235052595G>ACA351164842SH3BP4c.2512G>A (p.Val838Ile)
gnomAD v4
2g.235052595G>CCA351164843SH3BP4c.2512G>C (p.Val838Leu)
2g.235052595G>TCA351164844SH3BP4c.2512G>T (p.Val838Phe)
2g.235052596T>ACA351164845SH3BP4c.2513T>A (p.Val838Asp)
2g.235052596T>CCA351164846SH3BP4c.2513T>C (p.Val838Ala)
2g.235052596T>GCA351164847SH3BP4c.2513T>G (p.Val838Gly)
2g.235052597C>ACA431875760SH3BP4c.2514C>A (p.Val838=)
gnomAD v4
2g.235052597C=CA1336501571SH3BP4c.2514C= (p.Val838=)
2g.235052597C>GCA431875762SH3BP4c.2514C>G (p.Val838=)
dbSNP gnomAD v2 gnomAD v4
2g.235052597C>TCA431875761SH3BP4c.2514C>T (p.Val838=)
2g.235052598A>CCA431875763SH3BP4c.2515A>C (p.Arg839=)
2g.235052598A>GCA351164848SH3BP4c.2515A>G (p.Arg839Gly)
2g.235052598A>TCA351164849SH3BP4c.2515A>T (p.Arg839Ter)
2g.235052599G>ACA351164850SH3BP4c.2516G>A (p.Arg839Lys)
2g.235052599G>CCA351164851SH3BP4c.2516G>C (p.Arg839Thr)
dbSNP
2g.235052599G=CA1336501572SH3BP4c.2516G= (p.Arg839=)
2g.235052599G>TCA351164852SH3BP4c.2516G>T (p.Arg839Ile)
gnomAD v4
2g.235052600A>CCA351164854SH3BP4c.2517A>C (p.Arg839Ser)
2g.235052600A>GCA431875764SH3BP4c.2517A>G (p.Arg839=)
2g.235052600A>TCA351164853SH3BP4c.2517A>T (p.Arg839Ser)
2g.235052600_235052601delCA2754728200SH3BP4c.2517_2518del (p.Arg839SerfsTer23)
2g.235052601C>ACA351164855SH3BP4c.2518C>A (p.Leu840Ile)
COSMIC
2g.235052601C>GCA351164856SH3BP4c.2518C>G (p.Leu840Val)
2g.235052601C>TCA351164857SH3BP4c.2518C>T (p.Leu840Phe)
2g.235052602T>ACA351164858SH3BP4c.2519T>A (p.Leu840His)
2g.235052602T>CCA351164859SH3BP4c.2519T>C (p.Leu840Pro)
2g.235052602T>GCA351164860SH3BP4c.2519T>G (p.Leu840Arg)
2g.235052603C>ACA431875765SH3BP4c.2520C>A (p.Leu840=)
gnomAD v4
2g.235052603C>GCA431875766SH3BP4c.2520C>G (p.Leu840=)
2g.235052603C>TCA431875767SH3BP4c.2520C>T (p.Leu840=)
gnomAD v4
2g.235052604A=CA1336501573SH3BP4c.2521A= (p.Ile841=)
2g.235052604A>CCA351164862SH3BP4c.2521A>C (p.Ile841Leu)
2g.235052604A>GCA2184016SH3BP4c.2521A>G (p.Ile841Val)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.235052604A>TCA351164861SH3BP4c.2521A>T (p.Ile841Phe)
2g.235052605T>ACA351164863SH3BP4c.2522T>A (p.Ile841Asn)
2g.235052605T>CCA351164864SH3BP4c.2522T>C (p.Ile841Thr)
2g.235052605T>GCA351164865SH3BP4c.2522T>G (p.Ile841Ser)
2g.235052606C>ACA431875768SH3BP4c.2523C>A (p.Ile841=)
gnomAD v4
2g.235052606C=CA1336501574SH3BP4c.2523C= (p.Ile841=)
2g.235052606C>GCA351164866SH3BP4c.2523C>G (p.Ile841Met)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.235052606C>TCA2184017SH3BP4c.2523C>T (p.Ile841=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.235052607delCA2663754395SH3BP4c.2524del (p.Gln842ArgfsTer6)
gnomAD v4
2g.235052607C>ACA351164867SH3BP4c.2524C>A (p.Gln842Lys)
gnomAD v4
2g.235052607C=CA1336501575SH3BP4c.2524C= (p.Gln842=)
2g.235052607C>GCA351164869SH3BP4c.2524C>G (p.Gln842Glu)
gnomAD v4
2g.235052607C>TCA351164868SH3BP4c.2524C>T (p.Gln842Ter)
dbSNP gnomAD v2 gnomAD v4
2g.235052608A>CCA351164870SH3BP4c.2525A>C (p.Gln842Pro)
2g.235052608A>GCA351164871SH3BP4c.2525A>G (p.Gln842Arg)
2g.235052608A>TCA351164872SH3BP4c.2525A>T (p.Gln842Leu)
2g.235052609G>ACA431875769SH3BP4c.2526G>A (p.Gln842=)
2g.235052609G>CCA351164873SH3BP4c.2526G>C (p.Gln842His)
2g.235052609G>TCA351164874SH3BP4c.2526G>T (p.Gln842His)
2g.235052610G>ACA351164875SH3BP4c.2527G>A (p.Asp843Asn)
2g.235052610G>CCA351164876SH3BP4c.2527G>C (p.Asp843His)
2g.235052610G>TCA351164877SH3BP4c.2527G>T (p.Asp843Tyr)
2g.235052611A>CCA351164878SH3BP4c.2528A>C (p.Asp843Ala)
2g.235052611A>GCA351164879SH3BP4c.2528A>G (p.Asp843Gly)
2g.235052611A>TCA351164880SH3BP4c.2528A>T (p.Asp843Val)
2g.235052612C>ACA351164881SH3BP4c.2529C>A (p.Asp843Glu)
2g.235052612C>GCA351164882SH3BP4c.2529C>G (p.Asp843Glu)
2g.235052612C>TCA431875770SH3BP4c.2529C>T (p.Asp843=)
2g.235052613T>ACA351164885SH3BP4c.2530T>A (p.Phe844Ile)
2g.235052613T>CCA351164883SH3BP4c.2530T>C (p.Phe844Leu)
2g.235052613T>GCA351164884SH3BP4c.2530T>G (p.Phe844Val)
2g.235052614T>ACA351164886SH3BP4c.2531T>A (p.Phe844Tyr)
2g.235052614T>CCA351164887SH3BP4c.2531T>C (p.Phe844Ser)
2g.235052614T>GCA351164888SH3BP4c.2531T>G (p.Phe844Cys)
2g.235052615T>ACA351164889SH3BP4c.2532T>A (p.Phe844Leu)
2g.235052615T>CCA431875771SH3BP4c.2532T>C (p.Phe844=)
dbSNP gnomAD v4
2g.235052615T>GCA351164890SH3BP4c.2532T>G (p.Phe844Leu)
gnomAD v4
2g.235052615T=CA1336501576SH3BP4c.2532T= (p.Phe844=)
2g.235052616G>ACA351164891SH3BP4c.2533G>A (p.Val845Met)
dbSNP gnomAD v2 gnomAD v4
2g.235052616G>CCA351164892SH3BP4c.2533G>C (p.Val845Leu)
2g.235052616G=CA1336501577SH3BP4c.2533G= (p.Val845=)
2g.235052616G>TCA351164893SH3BP4c.2533G>T (p.Val845Leu)

Number of alleles fetched