Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.51139421_51139426dupCA8053037SALL1c.2798_2803dup (p.Ser934_Thr935insAsnSer)
c.2507_2512dup (p.Ser837_Thr838insAsnSer)
c.77-1872_77-1867dup (n.77-1872_77-1867dup)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139424T>ACA395883785SALL1c.2798A>T (p.Asn933Ile)
c.2507A>T (p.Asn836Ile)
c.77-1872A>T (n.77-1872A>T)
16g.51139424T>CCA8053041SALL1c.2798A>G (p.Asn933Ser)
c.2507A>G (p.Asn836Ser)
c.77-1872A>G (n.77-1872A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139424T>GCA395883782SALL1c.2798A>C (p.Asn933Thr)
c.2507A>C (p.Asn836Thr)
c.77-1872A>C (n.77-1872A>C)
dbSNP
16g.51139424T=CA2222017999SALL1c.2798A= (p.Asn933=)
c.2507A= (p.Asn836=)
c.77-1872A= (n.77-1872A=)
16g.51139425T>ACA395883788SALL1c.2797A>T (p.Asn933Tyr)
c.2506A>T (p.Asn836Tyr)
c.77-1873A>T (n.77-1873A>T)
16g.51139425T>CCA395883790SALL1c.2797A>G (p.Asn933Asp)
c.2506A>G (p.Asn836Asp)
c.77-1873A>G (n.77-1873A>G)
gnomAD v4
16g.51139425T>GCA395883792SALL1c.2797A>C (p.Asn933His)
c.2506A>C (p.Asn836His)
c.77-1873A>C (n.77-1873A>C)
16g.51139426G>ACA495780161SALL1c.2796C>T (p.Ser932=)
c.2505C>T (p.Ser835=)
c.77-1874C>T (n.77-1874C>T)
gnomAD v4 COSMIC
16g.51139426G>CCA495780162SALL1c.2796C>G (p.Ser932=)
c.2505C>G (p.Ser835=)
c.77-1874C>G (n.77-1874C>G)
16g.51139426G=CA2222018004SALL1c.2796C= (p.Ser932=)
c.2505C= (p.Ser835=)
c.77-1874C= (n.77-1874C=)
16g.51139426G>TCA8053042SALL1c.2796C>A (p.Ser932=)
c.2505C>A (p.Ser835=)
c.77-1874C>A (n.77-1874C>A)
dbSNP ExAC gnomAD v2
16g.51139427G>ACA395883795SALL1c.2795C>T (p.Ser932Phe)
c.2504C>T (p.Ser835Phe)
c.77-1875C>T (n.77-1875C>T)
16g.51139427G>CCA395883797SALL1c.2795C>G (p.Ser932Cys)
c.2504C>G (p.Ser835Cys)
c.77-1875C>G (n.77-1875C>G)
16g.51139427G>TCA395883798SALL1c.2795C>A (p.Ser932Tyr)
c.2504C>A (p.Ser835Tyr)
c.77-1875C>A (n.77-1875C>A)
COSMIC
16g.51139428A>CCA395883804SALL1c.2794T>G (p.Ser932Ala)
c.2503T>G (p.Ser835Ala)
c.77-1876T>G (n.77-1876T>G)
16g.51139428A>GCA395883800SALL1c.2794T>C (p.Ser932Pro)
c.2503T>C (p.Ser835Pro)
c.77-1876T>C (n.77-1876T>C)
16g.51139428A>TCA395883802SALL1c.2794T>A (p.Ser932Thr)
c.2503T>A (p.Ser835Thr)
c.77-1876T>A (n.77-1876T>A)
16g.51139429C>ACA495780163SALL1c.2793G>T (p.Pro931=)
c.2502G>T (p.Pro834=)
c.77-1877G>T (n.77-1877G>T)
16g.51139429C=CA2222018008SALL1c.2793G= (p.Pro931=)
c.2502G= (p.Pro834=)
c.77-1877G= (n.77-1877G=)
16g.51139429C>GCA8053044SALL1c.2793G>C (p.Pro931=)
c.2502G>C (p.Pro834=)
c.77-1877G>C (n.77-1877G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139429C>TCA8053043SALL1c.2793G>A (p.Pro931=)
c.2502G>A (p.Pro834=)
c.77-1877G>A (n.77-1877G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139430G>ACA8053045SALL1c.2792C>T (p.Pro931Leu)
c.2501C>T (p.Pro834Leu)
c.77-1878C>T (n.77-1878C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139430G>CCA395883811SALL1c.2792C>G (p.Pro931Arg)
c.2501C>G (p.Pro834Arg)
c.77-1878C>G (n.77-1878C>G)
16g.51139430G=CA2222018017SALL1c.2792C= (p.Pro931=)
c.2501C= (p.Pro834=)
c.77-1878C= (n.77-1878C=)
16g.51139430G>TCA395883812SALL1c.2792C>A (p.Pro931Gln)
c.2501C>A (p.Pro834Gln)
c.77-1878C>A (n.77-1878C>A)
COSMIC
16g.51139431G>ACA395883815SALL1c.2791C>T (p.Pro931Ser)
c.2500C>T (p.Pro834Ser)
c.77-1879C>T (n.77-1879C>T)
16g.51139431G>CCA395883818SALL1c.2791C>G (p.Pro931Ala)
c.2500C>G (p.Pro834Ala)
c.77-1879C>G (n.77-1879C>G)
gnomAD v4
16g.51139431G>TCA395883816SALL1c.2791C>A (p.Pro931Thr)
c.2500C>A (p.Pro834Thr)
c.77-1879C>A (n.77-1879C>A)
16g.51139432G>ACA495780165SALL1c.2790C>T (p.Ser930=)
c.2499C>T (p.Ser833=)
c.77-1880C>T (n.77-1880C>T)
dbSNP gnomAD v3 gnomAD v4 COSMIC
16g.51139432G>CCA495780166SALL1c.2790C>G (p.Ser930=)
c.2499C>G (p.Ser833=)
c.77-1880C>G (n.77-1880C>G)
16g.51139432G=CA2222018022SALL1c.2790C= (p.Ser930=)
c.2499C= (p.Ser833=)
c.77-1880C= (n.77-1880C=)
16g.51139432G>TCA495780167SALL1c.2790C>A (p.Ser930=)
c.2499C>A (p.Ser833=)
c.77-1880C>A (n.77-1880C>A)
16g.51139433G>ACA395883821SALL1c.2789C>T (p.Ser930Phe)
c.2498C>T (p.Ser833Phe)
c.77-1881C>T (n.77-1881C>T)
16g.51139433G>CCA395883822SALL1c.2789C>G (p.Ser930Cys)
c.2498C>G (p.Ser833Cys)
c.77-1881C>G (n.77-1881C>G)
dbSNP gnomAD v3 gnomAD v4
16g.51139433G=CA2222018025SALL1c.2789C= (p.Ser930=)
c.2498C= (p.Ser833=)
c.77-1881C= (n.77-1881C=)
16g.51139433G>TCA395883824SALL1c.2789C>A (p.Ser930Tyr)
c.2498C>A (p.Ser833Tyr)
c.77-1881C>A (n.77-1881C>A)
16g.51139434A=CA2222018029SALL1c.2788T= (p.Ser930=)
c.2497T= (p.Ser833=)
c.77-1882T= (n.77-1882T=)
16g.51139434A>CCA395883826SALL1c.2788T>G (p.Ser930Ala)
c.2497T>G (p.Ser833Ala)
c.77-1882T>G (n.77-1882T>G)
16g.51139434A>GCA395883828SALL1c.2788T>C (p.Ser930Pro)
c.2497T>C (p.Ser833Pro)
c.77-1882T>C (n.77-1882T>C)
16g.51139434A>TCA395883830SALL1c.2788T>A (p.Ser930Thr)
c.2497T>A (p.Ser833Thr)
c.77-1882T>A (n.77-1882T>A)
dbSNP
16g.51139435C>ACA495780169SALL1c.2787G>T (p.Leu929=)
c.2496G>T (p.Leu832=)
c.77-1883G>T (n.77-1883G>T)
gnomAD v4
16g.51139435C=CA2222018034SALL1c.2787G= (p.Leu929=)
c.2496G= (p.Leu832=)
c.77-1883G= (n.77-1883G=)
16g.51139435C>GCA495780170SALL1c.2787G>C (p.Leu929=)
c.2496G>C (p.Leu832=)
c.77-1883G>C (n.77-1883G>C)
16g.51139435C>TCA495780171SALL1c.2787G>A (p.Leu929=)
c.2496G>A (p.Leu832=)
c.77-1883G>A (n.77-1883G>A)
dbSNP gnomAD v2
16g.51139436A>CCA395883833SALL1c.2786T>G (p.Leu929Arg)
c.2495T>G (p.Leu832Arg)
c.77-1884T>G (n.77-1884T>G)
16g.51139436A>GCA395883835SALL1c.2786T>C (p.Leu929Pro)
c.2495T>C (p.Leu832Pro)
c.77-1884T>C (n.77-1884T>C)
16g.51139436A>TCA395883837SALL1c.2786T>A (p.Leu929Gln)
c.2495T>A (p.Leu832Gln)
c.77-1884T>A (n.77-1884T>A)
16g.51139437G>ACA495780172SALL1c.2785C>T (p.Leu929=)
c.2494C>T (p.Leu832=)
c.77-1885C>T (n.77-1885C>T)
16g.51139437G>CCA395883839SALL1c.2785C>G (p.Leu929Val)
c.2494C>G (p.Leu832Val)
c.77-1885C>G (n.77-1885C>G)
gnomAD v4
16g.51139437G>TCA395883841SALL1c.2785C>A (p.Leu929Met)
c.2494C>A (p.Leu832Met)
c.77-1885C>A (n.77-1885C>A)
16g.51139438A>CCA495780173SALL1c.2784T>G (p.Ala928=)
c.2493T>G (p.Ala831=)
c.77-1886T>G (n.77-1886T>G)
16g.51139438A>GCA495780174SALL1c.2784T>C (p.Ala928=)
c.2493T>C (p.Ala831=)
c.77-1886T>C (n.77-1886T>C)
16g.51139438A>TCA495780176SALL1c.2784T>A (p.Ala928=)
c.2493T>A (p.Ala831=)
c.77-1886T>A (n.77-1886T>A)
16g.51139439G>ACA395883843SALL1c.2783C>T (p.Ala928Val)
c.2492C>T (p.Ala831Val)
c.77-1887C>T (n.77-1887C>T)
16g.51139439G>CCA395883845SALL1c.2783C>G (p.Ala928Gly)
c.2492C>G (p.Ala831Gly)
c.77-1887C>G (n.77-1887C>G)
16g.51139439G>TCA395883844SALL1c.2783C>A (p.Ala928Asp)
c.2492C>A (p.Ala831Asp)
c.77-1887C>A (n.77-1887C>A)
16g.51139440C>ACA395883847SALL1c.2782G>T (p.Ala928Ser)
c.2491G>T (p.Ala831Ser)
c.77-1888G>T (n.77-1888G>T)
gnomAD v4
16g.51139440C>GCA395883851SALL1c.2782G>C (p.Ala928Pro)
c.2491G>C (p.Ala831Pro)
c.77-1888G>C (n.77-1888G>C)
gnomAD v4
16g.51139440C>TCA395883849SALL1c.2782G>A (p.Ala928Thr)
c.2491G>A (p.Ala831Thr)
c.77-1888G>A (n.77-1888G>A)
16g.51139441C>ACA395883853SALL1c.2781G>T (p.Gln927His)
c.2490G>T (p.Gln830His)
c.77-1889G>T (n.77-1889G>T)
16g.51139441C>GCA395883855SALL1c.2781G>C (p.Gln927His)
c.2490G>C (p.Gln830His)
c.77-1889G>C (n.77-1889G>C)
16g.51139441C>TCA495780178SALL1c.2781G>A (p.Gln927=)
c.2490G>A (p.Gln830=)
c.77-1889G>A (n.77-1889G>A)
16g.51139442T>ACA395883857SALL1c.2780A>T (p.Gln927Leu)
c.2489A>T (p.Gln830Leu)
c.77-1890A>T (n.77-1890A>T)
16g.51139442T>CCA395883858SALL1c.2780A>G (p.Gln927Arg)
c.2489A>G (p.Gln830Arg)
c.77-1890A>G (n.77-1890A>G)
ClinVar dbSNP gnomAD v4
16g.51139442T>GCA395883860SALL1c.2780A>C (p.Gln927Pro)
c.2489A>C (p.Gln830Pro)
c.77-1890A>C (n.77-1890A>C)
16g.51139442T=CA2222018037SALL1c.2780A= (p.Gln927=)
c.2489A= (p.Gln830=)
c.77-1890A= (n.77-1890A=)
16g.51139443G>ACA395883862SALL1c.2779C>T (p.Gln927Ter)
c.2488C>T (p.Gln830Ter)
c.77-1891C>T (n.77-1891C>T)
16g.51139443G>CCA395883864SALL1c.2779C>G (p.Gln927Glu)
c.2488C>G (p.Gln830Glu)
c.77-1891C>G (n.77-1891C>G)
16g.51139443G>TCA395883867SALL1c.2779C>A (p.Gln927Lys)
c.2488C>A (p.Gln830Lys)
c.77-1891C>A (n.77-1891C>A)
16g.51139444C>ACA395883871SALL1c.2778G>T (p.Met926Ile)
c.2487G>T (p.Met829Ile)
c.77-1892G>T (n.77-1892G>T)
gnomAD v4
16g.51139444C>GCA395883873SALL1c.2778G>C (p.Met926Ile)
c.2487G>C (p.Met829Ile)
c.77-1892G>C (n.77-1892G>C)
16g.51139444C>TCA395883875SALL1c.2778G>A (p.Met926Ile)
c.2487G>A (p.Met829Ile)
c.77-1892G>A (n.77-1892G>A)
16g.51139445A>CCA395883881SALL1c.2777T>G (p.Met926Arg)
c.2486T>G (p.Met829Arg)
c.77-1893T>G (n.77-1893T>G)
16g.51139445A>GCA395883879SALL1c.2777T>C (p.Met926Thr)
c.2486T>C (p.Met829Thr)
c.77-1893T>C (n.77-1893T>C)
16g.51139445A>TCA395883877SALL1c.2777T>A (p.Met926Lys)
c.2486T>A (p.Met829Lys)
c.77-1893T>A (n.77-1893T>A)
16g.51139446T>ACA395883883SALL1c.2776A>T (p.Met926Leu)
c.2485A>T (p.Met829Leu)
c.77-1894A>T (n.77-1894A>T)
dbSNP gnomAD v4
16g.51139446T>CCA395883885SALL1c.2776A>G (p.Met926Val)
c.2485A>G (p.Met829Val)
c.77-1894A>G (n.77-1894A>G)
dbSNP gnomAD v4
16g.51139446T>GCA395883887SALL1c.2776A>C (p.Met926Leu)
c.2485A>C (p.Met829Leu)
c.77-1894A>C (n.77-1894A>C)
16g.51139446T=CA2222018042SALL1c.2776A= (p.Met926=)
c.2485A= (p.Met829=)
c.77-1894A= (n.77-1894A=)
16g.51139447G>ACA495780181SALL1c.2775C>T (p.Ser925=)
c.2484C>T (p.Ser828=)
c.77-1895C>T (n.77-1895C>T)
16g.51139447G>CCA495780182SALL1c.2775C>G (p.Ser925=)
c.2484C>G (p.Ser828=)
c.77-1895C>G (n.77-1895C>G)
16g.51139447G>TCA495780183SALL1c.2775C>A (p.Ser925=)
c.2484C>A (p.Ser828=)
c.77-1895C>A (n.77-1895C>A)
16g.51139448G>ACA395883890SALL1c.2774C>T (p.Ser925Phe)
c.2483C>T (p.Ser828Phe)
c.77-1896C>T (n.77-1896C>T)
16g.51139448G>CCA395883892SALL1c.2774C>G (p.Ser925Cys)
c.2483C>G (p.Ser828Cys)
c.77-1896C>G (n.77-1896C>G)
16g.51139448G>TCA395883894SALL1c.2774C>A (p.Ser925Tyr)
c.2483C>A (p.Ser828Tyr)
c.77-1896C>A (n.77-1896C>A)
16g.51139449A>CCA395883896SALL1c.2773T>G (p.Ser925Ala)
c.2482T>G (p.Ser828Ala)
c.77-1897T>G (n.77-1897T>G)
16g.51139449A>GCA395883898SALL1c.2773T>C (p.Ser925Pro)
c.2482T>C (p.Ser828Pro)
c.77-1897T>C (n.77-1897T>C)
16g.51139449A>TCA395883899SALL1c.2773T>A (p.Ser925Thr)
c.2482T>A (p.Ser828Thr)
c.77-1897T>A (n.77-1897T>A)
16g.51139450A>CCA495780185SALL1c.2772T>G (p.Ser924=)
c.2481T>G (p.Ser827=)
c.77-1898T>G (n.77-1898T>G)
16g.51139450A>GCA495780186SALL1c.2772T>C (p.Ser924=)
c.2481T>C (p.Ser827=)
c.77-1898T>C (n.77-1898T>C)
16g.51139450A>TCA495780187SALL1c.2772T>A (p.Ser924=)
c.2481T>A (p.Ser827=)
c.77-1898T>A (n.77-1898T>A)
16g.51139451G>ACA395883902SALL1c.2771C>T (p.Ser924Phe)
c.2480C>T (p.Ser827Phe)
c.77-1899C>T (n.77-1899C>T)
COSMIC
16g.51139451G>CCA395883904SALL1c.2771C>G (p.Ser924Cys)
c.2480C>G (p.Ser827Cys)
c.77-1899C>G (n.77-1899C>G)
16g.51139451G>TCA395883906SALL1c.2771C>A (p.Ser924Tyr)
c.2480C>A (p.Ser827Tyr)
c.77-1899C>A (n.77-1899C>A)
16g.51139452A>CCA395883913SALL1c.2770T>G (p.Ser924Ala)
c.2479T>G (p.Ser827Ala)
c.77-1900T>G (n.77-1900T>G)
16g.51139452A>GCA395883910SALL1c.2770T>C (p.Ser924Pro)
c.2479T>C (p.Ser827Pro)
c.77-1900T>C (n.77-1900T>C)
16g.51139452A>TCA395883909SALL1c.2770T>A (p.Ser924Thr)
c.2479T>A (p.Ser827Thr)
c.77-1900T>A (n.77-1900T>A)
16g.51139453G>ACA495780188SALL1c.2769C>T (p.Thr923=)
c.2478C>T (p.Thr826=)
c.77-1901C>T (n.77-1901C>T)
16g.51139453G>CCA495780190SALL1c.2769C>G (p.Thr923=)
c.2478C>G (p.Thr826=)
c.77-1901C>G (n.77-1901C>G)
16g.51139453G>TCA495780189SALL1c.2769C>A (p.Thr923=)
c.2478C>A (p.Thr826=)
c.77-1901C>A (n.77-1901C>A)
16g.51139454G>ACA395883914SALL1c.2768C>T (p.Thr923Ile)
c.2477C>T (p.Thr826Ile)
c.77-1902C>T (n.77-1902C>T)
16g.51139454G>CCA395883917SALL1c.2768C>G (p.Thr923Ser)
c.2477C>G (p.Thr826Ser)
c.77-1902C>G (n.77-1902C>G)
dbSNP
16g.51139454G=CA2222018051SALL1c.2768C= (p.Thr923=)
c.2477C= (p.Thr826=)
c.77-1902C= (n.77-1902C=)
16g.51139454G>TCA395883919SALL1c.2768C>A (p.Thr923Asn)
c.2477C>A (p.Thr826Asn)
c.77-1902C>A (n.77-1902C>A)
16g.51139455T>ACA8053046SALL1c.2767A>T (p.Thr923Ser)
c.2476A>T (p.Thr826Ser)
c.77-1903A>T (n.77-1903A>T)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.51139455T>CCA395883922SALL1c.2767A>G (p.Thr923Ala)
c.2476A>G (p.Thr826Ala)
c.77-1903A>G (n.77-1903A>G)
ClinVar dbSNP gnomAD v4
16g.51139455T>GCA395883924SALL1c.2767A>C (p.Thr923Pro)
c.2476A>C (p.Thr826Pro)
c.77-1903A>C (n.77-1903A>C)
dbSNP
16g.51139455T=CA2222018060SALL1c.2767A= (p.Thr923=)
c.2476A= (p.Thr826=)
c.77-1903A= (n.77-1903A=)
16g.51139456A>CCA495780194SALL1c.2766T>G (p.Ser922=)
c.2475T>G (p.Ser825=)
c.77-1904T>G (n.77-1904T>G)
16g.51139456A>GCA495780193SALL1c.2766T>C (p.Ser922=)
c.2475T>C (p.Ser825=)
c.77-1904T>C (n.77-1904T>C)
16g.51139456A>TCA495780192SALL1c.2766T>A (p.Ser922=)
c.2475T>A (p.Ser825=)
c.77-1904T>A (n.77-1904T>A)
16g.51139457G>ACA395883930SALL1c.2765C>T (p.Ser922Phe)
c.2474C>T (p.Ser825Phe)
c.77-1905C>T (n.77-1905C>T)
16g.51139457G>CCA395883927SALL1c.2765C>G (p.Ser922Cys)
c.2474C>G (p.Ser825Cys)
c.77-1905C>G (n.77-1905C>G)
dbSNP gnomAD v3 gnomAD v4
16g.51139457G=CA2222018071SALL1c.2765C= (p.Ser922=)
c.2474C= (p.Ser825=)
c.77-1905C= (n.77-1905C=)
16g.51139457G>TCA395883929SALL1c.2765C>A (p.Ser922Tyr)
c.2474C>A (p.Ser825Tyr)
c.77-1905C>A (n.77-1905C>A)
16g.51139458A=CA2222018076SALL1c.2764T= (p.Ser922=)
c.2473T= (p.Ser825=)
c.77-1906T= (n.77-1906T=)
16g.51139458A>CCA395883933SALL1c.2764T>G (p.Ser922Ala)
c.2473T>G (p.Ser825Ala)
c.77-1906T>G (n.77-1906T>G)
16g.51139458A>GCA395883934SALL1c.2764T>C (p.Ser922Pro)
c.2473T>C (p.Ser825Pro)
c.77-1906T>C (n.77-1906T>C)
dbSNP
16g.51139458A>TCA395883936SALL1c.2764T>A (p.Ser922Thr)
c.2473T>A (p.Ser825Thr)
c.77-1906T>A (n.77-1906T>A)
16g.51139459C>ACA395883938SALL1c.2763G>T (p.Glu921Asp)
c.2472G>T (p.Glu824Asp)
c.77-1907G>T (n.77-1907G>T)
16g.51139459C>GCA395883940SALL1c.2763G>C (p.Glu921Asp)
c.2472G>C (p.Glu824Asp)
c.77-1907G>C (n.77-1907G>C)
16g.51139459C>TCA495780198SALL1c.2763G>A (p.Glu921=)
c.2472G>A (p.Glu824=)
c.77-1907G>A (n.77-1907G>A)
16g.51139460T>ACA395883942SALL1c.2762A>T (p.Glu921Val)
c.2471A>T (p.Glu824Val)
c.77-1908A>T (n.77-1908A>T)
16g.51139460T>CCA395883944SALL1c.2762A>G (p.Glu921Gly)
c.2471A>G (p.Glu824Gly)
c.77-1908A>G (n.77-1908A>G)
16g.51139460T>GCA395883943SALL1c.2762A>C (p.Glu921Ala)
c.2471A>C (p.Glu824Ala)
c.77-1908A>C (n.77-1908A>C)
16g.51139461C>ACA395883945SALL1c.2761G>T (p.Glu921Ter)
c.2470G>T (p.Glu824Ter)
c.77-1909G>T (n.77-1909G>T)
16g.51139461C>GCA395883946SALL1c.2761G>C (p.Glu921Gln)
c.2470G>C (p.Glu824Gln)
c.77-1909G>C (n.77-1909G>C)
16g.51139461C>TCA395883947SALL1c.2761G>A (p.Glu921Lys)
c.2470G>A (p.Glu824Lys)
c.77-1909G>A (n.77-1909G>A)
16g.51139462T>ACA495780199SALL1c.2760A>T (p.Ser920=)
c.2469A>T (p.Ser823=)
c.77-1910A>T (n.77-1910A>T)
16g.51139462T>CCA495780200SALL1c.2760A>G (p.Ser920=)
c.2469A>G (p.Ser823=)
c.77-1910A>G (n.77-1910A>G)
16g.51139462T>GCA495780201SALL1c.2760A>C (p.Ser920=)
c.2469A>C (p.Ser823=)
c.77-1910A>C (n.77-1910A>C)
16g.51139463G>ACA395883948SALL1c.2759C>T (p.Ser920Leu)
c.2468C>T (p.Ser823Leu)
c.77-1911C>T (n.77-1911C>T)
16g.51139463G>CCA395883949SALL1c.2759C>G (p.Ser920Ter)
c.2468C>G (p.Ser823Ter)
c.77-1911C>G (n.77-1911C>G)
16g.51139463G>TCA395883950SALL1c.2759C>A (p.Ser920Ter)
c.2468C>A (p.Ser823Ter)
c.77-1911C>A (n.77-1911C>A)
16g.51139464A>CCA395883951SALL1c.2758T>G (p.Ser920Ala)
c.2467T>G (p.Ser823Ala)
c.77-1912T>G (n.77-1912T>G)
16g.51139464A>GCA395883952SALL1c.2758T>C (p.Ser920Pro)
c.2467T>C (p.Ser823Pro)
c.77-1912T>C (n.77-1912T>C)
16g.51139464A>TCA395883953SALL1c.2758T>A (p.Ser920Thr)
c.2467T>A (p.Ser823Thr)
c.77-1912T>A (n.77-1912T>A)
16g.51139465G>ACA495780202SALL1c.2757C>T (p.Ile919=)
c.2466C>T (p.Ile822=)
c.77-1913C>T (n.77-1913C>T)
gnomAD v4
16g.51139465G>CCA395883954SALL1c.2757C>G (p.Ile919Met)
c.2466C>G (p.Ile822Met)
c.77-1913C>G (n.77-1913C>G)
16g.51139465G>TCA495780203SALL1c.2757C>A (p.Ile919=)
c.2466C>A (p.Ile822=)
c.77-1913C>A (n.77-1913C>A)
16g.51139466A>CCA395883957SALL1c.2756T>G (p.Ile919Ser)
c.2465T>G (p.Ile822Ser)
c.77-1914T>G (n.77-1914T>G)
16g.51139466A>GCA395883956SALL1c.2756T>C (p.Ile919Thr)
c.2465T>C (p.Ile822Thr)
c.77-1914T>C (n.77-1914T>C)
16g.51139466A>TCA395883955SALL1c.2756T>A (p.Ile919Asn)
c.2465T>A (p.Ile822Asn)
c.77-1914T>A (n.77-1914T>A)
16g.51139467T>ACA395883958SALL1c.2755A>T (p.Ile919Phe)
c.2464A>T (p.Ile822Phe)
c.77-1915A>T (n.77-1915A>T)
16g.51139467T>CCA395883960SALL1c.2755A>G (p.Ile919Val)
c.2464A>G (p.Ile822Val)
c.77-1915A>G (n.77-1915A>G)
dbSNP gnomAD v3 gnomAD v4
16g.51139467T>GCA395883959SALL1c.2755A>C (p.Ile919Leu)
c.2464A>C (p.Ile822Leu)
c.77-1915A>C (n.77-1915A>C)
16g.51139467T=CA2222018080SALL1c.2755A= (p.Ile919=)
c.2464A= (p.Ile822=)
c.77-1915A= (n.77-1915A=)
16g.51139468G>ACA8053047SALL1c.2754C>T (p.Ala918=)
c.2463C>T (p.Ala821=)
c.77-1916C>T (n.77-1916C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.51139468G>CCA495780205SALL1c.2754C>G (p.Ala918=)
c.2463C>G (p.Ala821=)
c.77-1916C>G (n.77-1916C>G)
16g.51139468G=CA2222018084SALL1c.2754C= (p.Ala918=)
c.2463C= (p.Ala821=)
c.77-1916C= (n.77-1916C=)
16g.51139468G>TCA495780206SALL1c.2754C>A (p.Ala918=)
c.2463C>A (p.Ala821=)
c.77-1916C>A (n.77-1916C>A)
16g.51139469G>ACA8053048SALL1c.2753C>T (p.Ala918Val)
c.2462C>T (p.Ala821Val)
c.77-1917C>T (n.77-1917C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.51139469G>CCA395883961SALL1c.2753C>G (p.Ala918Gly)
c.2462C>G (p.Ala821Gly)
c.77-1917C>G (n.77-1917C>G)
16g.51139469G=CA2222018089SALL1c.2753C= (p.Ala918=)
c.2462C= (p.Ala821=)
c.77-1917C= (n.77-1917C=)
16g.51139469G>TCA395883962SALL1c.2753C>A (p.Ala918Asp)
c.2462C>A (p.Ala821Asp)
c.77-1917C>A (n.77-1917C>A)
16g.51139470C>ACA395883963SALL1c.2752G>T (p.Ala918Ser)
c.2461G>T (p.Ala821Ser)
c.77-1918G>T (n.77-1918G>T)
16g.51139470C=CA2222018097SALL1c.2752G= (p.Ala918=)
c.2461G= (p.Ala821=)
c.77-1918G= (n.77-1918G=)
16g.51139470C>GCA395883964SALL1c.2752G>C (p.Ala918Pro)
c.2461G>C (p.Ala821Pro)
c.77-1918G>C (n.77-1918G>C)
16g.51139470C>TCA8053049SALL1c.2752G>A (p.Ala918Thr)
c.2461G>A (p.Ala821Thr)
c.77-1918G>A (n.77-1918G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139471T>ACA495780207SALL1c.2751A>T (p.Pro917=)
c.2460A>T (p.Pro820=)
c.77-1919A>T (n.77-1919A>T)
16g.51139471T>CCA495780208SALL1c.2751A>G (p.Pro917=)
c.2460A>G (p.Pro820=)
c.77-1919A>G (n.77-1919A>G)
gnomAD v4
16g.51139471T>GCA495780209SALL1c.2751A>C (p.Pro917=)
c.2460A>C (p.Pro820=)
c.77-1919A>C (n.77-1919A>C)
16g.51139472G>ACA395883965SALL1c.2750C>T (p.Pro917Leu)
c.2459C>T (p.Pro820Leu)
c.77-1920C>T (n.77-1920C>T)
dbSNP COSMIC
16g.51139472G>CCA395883966SALL1c.2750C>G (p.Pro917Arg)
c.2459C>G (p.Pro820Arg)
c.77-1920C>G (n.77-1920C>G)
dbSNP
16g.51139472G=CA2222018106SALL1c.2750C= (p.Pro917=)
c.2459C= (p.Pro820=)
c.77-1920C= (n.77-1920C=)
16g.51139472G>TCA395883967SALL1c.2750C>A (p.Pro917Gln)
c.2459C>A (p.Pro820Gln)
c.77-1920C>A (n.77-1920C>A)
16g.51139473G>ACA395883968SALL1c.2749C>T (p.Pro917Ser)
c.2458C>T (p.Pro820Ser)
c.77-1921C>T (n.77-1921C>T)
16g.51139473G>CCA395883969SALL1c.2749C>G (p.Pro917Ala)
c.2458C>G (p.Pro820Ala)
c.77-1921C>G (n.77-1921C>G)
16g.51139473G>TCA395883970SALL1c.2749C>A (p.Pro917Thr)
c.2458C>A (p.Pro820Thr)
c.77-1921C>A (n.77-1921C>A)
16g.51139474G>ACA495780213SALL1c.2748C>T (p.Ser916=)
c.2457C>T (p.Ser819=)
c.77-1922C>T (n.77-1922C>T)
dbSNP gnomAD v4
16g.51139474G>CCA395883971SALL1c.2748C>G (p.Ser916Arg)
c.2457C>G (p.Ser819Arg)
c.77-1922C>G (n.77-1922C>G)
16g.51139474G=CA2222018108SALL1c.2748C= (p.Ser916=)
c.2457C= (p.Ser819=)
c.77-1922C= (n.77-1922C=)
16g.51139474G>TCA395883972SALL1c.2748C>A (p.Ser916Arg)
c.2457C>A (p.Ser819Arg)
c.77-1922C>A (n.77-1922C>A)
16g.51139475C>ACA395883973SALL1c.2747G>T (p.Ser916Ile)
c.2456G>T (p.Ser819Ile)
c.77-1923G>T (n.77-1923G>T)
16g.51139475C>GCA395883974SALL1c.2747G>C (p.Ser916Thr)
c.2456G>C (p.Ser819Thr)
c.77-1923G>C (n.77-1923G>C)
16g.51139475C>TCA395883975SALL1c.2747G>A (p.Ser916Asn)
c.2456G>A (p.Ser819Asn)
c.77-1923G>A (n.77-1923G>A)
16g.51139476T>ACA395883976SALL1c.2746A>T (p.Ser916Cys)
c.2455A>T (p.Ser819Cys)
c.77-1924A>T (n.77-1924A>T)
16g.51139476T>CCA395883977SALL1c.2746A>G (p.Ser916Gly)
c.2455A>G (p.Ser819Gly)
c.77-1924A>G (n.77-1924A>G)
16g.51139476T>GCA395883978SALL1c.2746A>C (p.Ser916Arg)
c.2455A>C (p.Ser819Arg)
c.77-1924A>C (n.77-1924A>C)
16g.51139477G>ACA495780214SALL1c.2745C>T (p.Gly915=)
c.2454C>T (p.Gly818=)
c.77-1925C>T (n.77-1925C>T)
16g.51139477G>CCA495780215SALL1c.2745C>G (p.Gly915=)
c.2454C>G (p.Gly818=)
c.77-1925C>G (n.77-1925C>G)
16g.51139477G>TCA495780217SALL1c.2745C>A (p.Gly915=)
c.2454C>A (p.Gly818=)
c.77-1925C>A (n.77-1925C>A)
16g.51139478C>ACA395883979SALL1c.2744G>T (p.Gly915Val)
c.2453G>T (p.Gly818Val)
c.77-1926G>T (n.77-1926G>T)
16g.51139478C>GCA395883980SALL1c.2744G>C (p.Gly915Ala)
c.2453G>C (p.Gly818Ala)
c.77-1926G>C (n.77-1926G>C)
16g.51139478C>TCA395883981SALL1c.2744G>A (p.Gly915Asp)
c.2453G>A (p.Gly818Asp)
c.77-1926G>A (n.77-1926G>A)
16g.51139479C>ACA395883982SALL1c.2743G>T (p.Gly915Cys)
c.2452G>T (p.Gly818Cys)
c.77-1927G>T (n.77-1927G>T)
16g.51139479C>GCA395883983SALL1c.2743G>C (p.Gly915Arg)
c.2452G>C (p.Gly818Arg)
c.77-1927G>C (n.77-1927G>C)
16g.51139479C>TCA395883984SALL1c.2743G>A (p.Gly915Ser)
c.2452G>A (p.Gly818Ser)
c.77-1927G>A (n.77-1927G>A)
COSMIC
16g.51139480A=CA2222018111SALL1c.2742T= (p.Ala914=)
c.2451T= (p.Ala817=)
c.77-1928T= (n.77-1928T=)
16g.51139480A>CCA495780220SALL1c.2742T>G (p.Ala914=)
c.2451T>G (p.Ala817=)
c.77-1928T>G (n.77-1928T>G)
16g.51139480A>GCA495780222SALL1c.2742T>C (p.Ala914=)
c.2451T>C (p.Ala817=)
c.77-1928T>C (n.77-1928T>C)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51139480A>TCA495780221SALL1c.2742T>A (p.Ala914=)
c.2451T>A (p.Ala817=)
c.77-1928T>A (n.77-1928T>A)
16g.51139481G>ACA395883987SALL1c.2741C>T (p.Ala914Val)
c.2450C>T (p.Ala817Val)
c.77-1929C>T (n.77-1929C>T)
16g.51139481G>CCA395883986SALL1c.2741C>G (p.Ala914Gly)
c.2450C>G (p.Ala817Gly)
c.77-1929C>G (n.77-1929C>G)
16g.51139481G>TCA395883985SALL1c.2741C>A (p.Ala914Asp)
c.2450C>A (p.Ala817Asp)
c.77-1929C>A (n.77-1929C>A)
16g.51139482C>ACA395883990SALL1c.2740G>T (p.Ala914Ser)
c.2449G>T (p.Ala817Ser)
c.77-1930G>T (n.77-1930G>T)
gnomAD v4
16g.51139482C>GCA395883988SALL1c.2740G>C (p.Ala914Pro)
c.2449G>C (p.Ala817Pro)
c.77-1930G>C (n.77-1930G>C)
16g.51139482C>TCA395883989SALL1c.2740G>A (p.Ala914Thr)
c.2449G>A (p.Ala817Thr)
c.77-1930G>A (n.77-1930G>A)
gnomAD v4
16g.51139483A=CA2222018115SALL1c.2739T= (p.Ser913=)
c.2448T= (p.Ser816=)
c.77-1931T= (n.77-1931T=)
16g.51139483A>CCA8053050SALL1c.2739T>G (p.Ser913Arg)
c.2448T>G (p.Ser816Arg)
c.77-1931T>G (n.77-1931T>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139483A>GCA281301138SALL1c.2739T>C (p.Ser913=)
c.2448T>C (p.Ser816=)
c.77-1931T>C (n.77-1931T>C)
dbSNP gnomAD v3 gnomAD v4
16g.51139483A>TCA395883991SALL1c.2739T>A (p.Ser913Arg)
c.2448T>A (p.Ser816Arg)
c.77-1931T>A (n.77-1931T>A)
16g.51139484C>ACA395883992SALL1c.2738G>T (p.Ser913Ile)
c.2447G>T (p.Ser816Ile)
c.77-1932G>T (n.77-1932G>T)
dbSNP
16g.51139484C=CA2222018119SALL1c.2738G= (p.Ser913=)
c.2447G= (p.Ser816=)
c.77-1932G= (n.77-1932G=)
16g.51139484C>GCA395883993SALL1c.2738G>C (p.Ser913Thr)
c.2447G>C (p.Ser816Thr)
c.77-1932G>C (n.77-1932G>C)
gnomAD v4
16g.51139484C>TCA395883994SALL1c.2738G>A (p.Ser913Asn)
c.2447G>A (p.Ser816Asn)
c.77-1932G>A (n.77-1932G>A)
16g.51139485T>ACA395883995SALL1c.2737A>T (p.Ser913Cys)
c.2446A>T (p.Ser816Cys)
c.77-1933A>T (n.77-1933A>T)
16g.51139485T>CCA395883996SALL1c.2737A>G (p.Ser913Gly)
c.2446A>G (p.Ser816Gly)
c.77-1933A>G (n.77-1933A>G)
16g.51139485T>GCA395883997SALL1c.2737A>C (p.Ser913Arg)
c.2446A>C (p.Ser816Arg)
c.77-1933A>C (n.77-1933A>C)
16g.51139486T>ACA395883998SALL1c.2736A>T (p.Gln912His)
c.2445A>T (p.Gln815His)
c.77-1934A>T (n.77-1934A>T)
16g.51139486T>CCA495780225SALL1c.2736A>G (p.Gln912=)
c.2445A>G (p.Gln815=)
c.77-1934A>G (n.77-1934A>G)
gnomAD v4
16g.51139486T>GCA395883999SALL1c.2736A>C (p.Gln912His)
c.2445A>C (p.Gln815His)
c.77-1934A>C (n.77-1934A>C)
16g.51139487T>ACA395884002SALL1c.2735A>T (p.Gln912Leu)
c.2444A>T (p.Gln815Leu)
c.77-1935A>T (n.77-1935A>T)
16g.51139487T>CCA395884000SALL1c.2735A>G (p.Gln912Arg)
c.2444A>G (p.Gln815Arg)
c.77-1935A>G (n.77-1935A>G)
dbSNP gnomAD v2 gnomAD v4
16g.51139487T>GCA395884001SALL1c.2735A>C (p.Gln912Pro)
c.2444A>C (p.Gln815Pro)
c.77-1935A>C (n.77-1935A>C)
16g.51139487T=CA2222018122SALL1c.2735A= (p.Gln912=)
c.2444A= (p.Gln815=)
c.77-1935A= (n.77-1935A=)
16g.51139488G>ACA395884003SALL1c.2734C>T (p.Gln912Ter)
c.2443C>T (p.Gln815Ter)
c.77-1936C>T (n.77-1936C>T)
16g.51139488G>CCA395884004SALL1c.2734C>G (p.Gln912Glu)
c.2443C>G (p.Gln815Glu)
c.77-1936C>G (n.77-1936C>G)
16g.51139488G>TCA395884005SALL1c.2734C>A (p.Gln912Lys)
c.2443C>A (p.Gln815Lys)
c.77-1936C>A (n.77-1936C>A)
16g.51139489G>ACA495780227SALL1c.2733C>T (p.Ser911=)
c.2442C>T (p.Ser814=)
c.77-1937C>T (n.77-1937C>T)
16g.51139489G>CCA395884006SALL1c.2733C>G (p.Ser911Arg)
c.2442C>G (p.Ser814Arg)
c.77-1937C>G (n.77-1937C>G)
16g.51139489G>TCA395884007SALL1c.2733C>A (p.Ser911Arg)
c.2442C>A (p.Ser814Arg)
c.77-1937C>A (n.77-1937C>A)
16g.51139490C>ACA395884008SALL1c.2732G>T (p.Ser911Ile)
c.2441G>T (p.Ser814Ile)
c.77-1938G>T (n.77-1938G>T)
16g.51139490C>GCA395884009SALL1c.2732G>C (p.Ser911Thr)
c.2441G>C (p.Ser814Thr)
c.77-1938G>C (n.77-1938G>C)
16g.51139490C>TCA395884010SALL1c.2732G>A (p.Ser911Asn)
c.2441G>A (p.Ser814Asn)
c.77-1938G>A (n.77-1938G>A)
16g.51139491T>ACA395884011SALL1c.2731A>T (p.Ser911Cys)
c.2440A>T (p.Ser814Cys)
c.77-1939A>T (n.77-1939A>T)
16g.51139491T>CCA395884012SALL1c.2731A>G (p.Ser911Gly)
c.2440A>G (p.Ser814Gly)
c.77-1939A>G (n.77-1939A>G)
16g.51139491T>GCA395884013SALL1c.2731A>C (p.Ser911Arg)
c.2440A>C (p.Ser814Arg)
c.77-1939A>C (n.77-1939A>C)
16g.51139492T>ACA395884014SALL1c.2730A>T (p.Glu910Asp)
c.2439A>T (p.Glu813Asp)
c.77-1940A>T (n.77-1940A>T)
16g.51139492T>CCA495780229SALL1c.2730A>G (p.Glu910=)
c.2439A>G (p.Glu813=)
c.77-1940A>G (n.77-1940A>G)
16g.51139492T>GCA395884015SALL1c.2730A>C (p.Glu910Asp)
c.2439A>C (p.Glu813Asp)
c.77-1940A>C (n.77-1940A>C)
16g.51139493T>ACA395884017SALL1c.2729A>T (p.Glu910Val)
c.2438A>T (p.Glu813Val)
c.77-1941A>T (n.77-1941A>T)
16g.51139493T>CCA281301144SALL1c.2729A>G (p.Glu910Gly)
c.2438A>G (p.Glu813Gly)
c.77-1941A>G (n.77-1941A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51139493T>GCA395884016SALL1c.2729A>C (p.Glu910Ala)
c.2438A>C (p.Glu813Ala)
c.77-1941A>C (n.77-1941A>C)
16g.51139493T=CA2222018125SALL1c.2729A= (p.Glu910=)
c.2438A= (p.Glu813=)
c.77-1941A= (n.77-1941A=)
16g.51139494C>ACA395884018SALL1c.2728G>T (p.Glu910Ter)
c.2437G>T (p.Glu813Ter)
c.77-1942G>T (n.77-1942G>T)
16g.51139494C=CA2222018134SALL1c.2728G= (p.Glu910=)
c.2437G= (p.Glu813=)
c.77-1942G= (n.77-1942G=)
16g.51139494C>GCA395884019SALL1c.2728G>C (p.Glu910Gln)
c.2437G>C (p.Glu813Gln)
c.77-1942G>C (n.77-1942G>C)
16g.51139494C>TCA281301151SALL1c.2728G>A (p.Glu910Lys)
c.2437G>A (p.Glu813Lys)
c.77-1942G>A (n.77-1942G>A)
dbSNP COSMIC
16g.51139495C>ACA395884020SALL1c.2727G>T (p.Met909Ile)
c.2436G>T (p.Met812Ile)
c.77-1943G>T (n.77-1943G>T)
16g.51139495C=CA2222018139SALL1c.2727G= (p.Met909=)
c.2436G= (p.Met812=)
c.77-1943G= (n.77-1943G=)
16g.51139495C>GCA395884021SALL1c.2727G>C (p.Met909Ile)
c.2436G>C (p.Met812Ile)
c.77-1943G>C (n.77-1943G>C)
16g.51139495C>TCA281301155SALL1c.2727G>A (p.Met909Ile)
c.2436G>A (p.Met812Ile)
c.77-1943G>A (n.77-1943G>A)
dbSNP COSMIC
16g.51139496A>CCA395884022SALL1c.2726T>G (p.Met909Arg)
c.2435T>G (p.Met812Arg)
c.77-1944T>G (n.77-1944T>G)
16g.51139496A>GCA395884023SALL1c.2726T>C (p.Met909Thr)
c.2435T>C (p.Met812Thr)
c.77-1944T>C (n.77-1944T>C)
gnomAD v4
16g.51139496A>TCA395884024SALL1c.2726T>A (p.Met909Lys)
c.2435T>A (p.Met812Lys)
c.77-1944T>A (n.77-1944T>A)
16g.51139497T>ACA395884025SALL1c.2725A>T (p.Met909Leu)
c.2434A>T (p.Met812Leu)
c.77-1945A>T (n.77-1945A>T)
gnomAD v4
16g.51139497T>CCA8053051SALL1c.2725A>G (p.Met909Val)
c.2434A>G (p.Met812Val)
c.77-1945A>G (n.77-1945A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139497T>GCA395884026SALL1c.2725A>C (p.Met909Leu)
c.2434A>C (p.Met812Leu)
c.77-1945A>C (n.77-1945A>C)
16g.51139497T=CA2222018146SALL1c.2725A= (p.Met909=)
c.2434A= (p.Met812=)
c.77-1945A= (n.77-1945A=)
16g.51139498G>ACA495780233SALL1c.2724C>T (p.Asp908=)
c.2433C>T (p.Asp811=)
c.77-1946C>T (n.77-1946C>T)
16g.51139498G>CCA395884027SALL1c.2724C>G (p.Asp908Glu)
c.2433C>G (p.Asp811Glu)
c.77-1946C>G (n.77-1946C>G)
16g.51139498G>TCA395884028SALL1c.2724C>A (p.Asp908Glu)
c.2433C>A (p.Asp811Glu)
c.77-1946C>A (n.77-1946C>A)
16g.51139499T>ACA395884031SALL1c.2723A>T (p.Asp908Val)
c.2432A>T (p.Asp811Val)
c.77-1947A>T (n.77-1947A>T)
16g.51139499T>CCA395884030SALL1c.2723A>G (p.Asp908Gly)
c.2432A>G (p.Asp811Gly)
c.77-1947A>G (n.77-1947A>G)
16g.51139499T>GCA395884029SALL1c.2723A>C (p.Asp908Ala)
c.2432A>C (p.Asp811Ala)
c.77-1947A>C (n.77-1947A>C)
16g.51139500C>ACA395884032SALL1c.2722G>T (p.Asp908Tyr)
c.2431G>T (p.Asp811Tyr)
c.77-1948G>T (n.77-1948G>T)
16g.51139500C>GCA395884033SALL1c.2722G>C (p.Asp908His)
c.2431G>C (p.Asp811His)
c.77-1948G>C (n.77-1948G>C)
16g.51139500C>TCA395884034SALL1c.2722G>A (p.Asp908Asn)
c.2431G>A (p.Asp811Asn)
c.77-1948G>A (n.77-1948G>A)
16g.51139501A=CA2222018151SALL1c.2721T= (p.Gly907=)
c.2430T= (p.Gly810=)
c.77-1949T= (n.77-1949T=)
16g.51139501A>CCA495780236SALL1c.2721T>G (p.Gly907=)
c.2430T>G (p.Gly810=)
c.77-1949T>G (n.77-1949T>G)
16g.51139501A>GCA495780237SALL1c.2721T>C (p.Gly907=)
c.2430T>C (p.Gly810=)
c.77-1949T>C (n.77-1949T>C)
dbSNP gnomAD v2 gnomAD v4
16g.51139501A>TCA495780238SALL1c.2721T>A (p.Gly907=)
c.2430T>A (p.Gly810=)
c.77-1949T>A (n.77-1949T>A)
16g.51139502C>ACA395884035SALL1c.2720G>T (p.Gly907Val)
c.2429G>T (p.Gly810Val)
c.77-1950G>T (n.77-1950G>T)
dbSNP gnomAD v3 gnomAD v4
16g.51139502C=CA2222018154SALL1c.2720G= (p.Gly907=)
c.2429G= (p.Gly810=)
c.77-1950G= (n.77-1950G=)
16g.51139502C>GCA395884036SALL1c.2720G>C (p.Gly907Ala)
c.2429G>C (p.Gly810Ala)
c.77-1950G>C (n.77-1950G>C)
16g.51139502C>TCA395884037SALL1c.2720G>A (p.Gly907Asp)
c.2429G>A (p.Gly810Asp)
c.77-1950G>A (n.77-1950G>A)
dbSNP gnomAD v3 gnomAD v4
16g.51139503C>ACA395884038SALL1c.2719G>T (p.Gly907Cys)
c.2428G>T (p.Gly810Cys)
c.77-1951G>T (n.77-1951G>T)
16g.51139503C>GCA395884039SALL1c.2719G>C (p.Gly907Arg)
c.2428G>C (p.Gly810Arg)
c.77-1951G>C (n.77-1951G>C)
16g.51139503C>TCA395884040SALL1c.2719G>A (p.Gly907Ser)
c.2428G>A (p.Gly810Ser)
c.77-1951G>A (n.77-1951G>A)
gnomAD v4
16g.51139504A>CCA495780239SALL1c.2718T>G (p.Gly906=)
c.2427T>G (p.Gly809=)
c.77-1952T>G (n.77-1952T>G)
16g.51139504A>GCA495780240SALL1c.2718T>C (p.Gly906=)
c.2427T>C (p.Gly809=)
c.77-1952T>C (n.77-1952T>C)
16g.51139504A>TCA495780241SALL1c.2718T>A (p.Gly906=)
c.2427T>A (p.Gly809=)
c.77-1952T>A (n.77-1952T>A)
16g.51139505C>ACA395884041SALL1c.2717G>T (p.Gly906Val)
c.2426G>T (p.Gly809Val)
c.77-1953G>T (n.77-1953G>T)
16g.51139505C=CA2222018159SALL1c.2717G= (p.Gly906=)
c.2426G= (p.Gly809=)
c.77-1953G= (n.77-1953G=)
16g.51139505C>GCA395884042SALL1c.2717G>C (p.Gly906Ala)
c.2426G>C (p.Gly809Ala)
c.77-1953G>C (n.77-1953G>C)
16g.51139505C>TCA395884043SALL1c.2717G>A (p.Gly906Asp)
c.2426G>A (p.Gly809Asp)
c.77-1953G>A (n.77-1953G>A)
dbSNP
16g.51139506C>ACA395884046SALL1c.2716G>T (p.Gly906Cys)
c.2425G>T (p.Gly809Cys)
c.77-1954G>T (n.77-1954G>T)
16g.51139506C=CA2222018163SALL1c.2716G= (p.Gly906=)
c.2425G= (p.Gly809=)
c.77-1954G= (n.77-1954G=)
16g.51139506C>GCA395884045SALL1c.2716G>C (p.Gly906Arg)
c.2425G>C (p.Gly809Arg)
c.77-1954G>C (n.77-1954G>C)
16g.51139506C>TCA395884044SALL1c.2716G>A (p.Gly906Ser)
c.2425G>A (p.Gly809Ser)
c.77-1954G>A (n.77-1954G>A)
dbSNP
16g.51139506_51139510delinsCCACTCA2222018162SALL1c.2712_2716delinsAGTGG (p.Ser904=)
c.2421_2425delinsAGTGG (p.Ser807=)
c.77-1958_77-1954delinsAGTGG (n.77-1958_77-1954delinsAGTGG)
16g.51139507C>ACA495780245SALL1c.2715G>T (p.Val905=)
c.2424G>T (p.Val808=)
c.77-1955G>T (n.77-1955G>T)
dbSNP gnomAD v4
16g.51139507C=CA2222018167SALL1c.2715G= (p.Val905=)
c.2424G= (p.Val808=)
c.77-1955G= (n.77-1955G=)
16g.51139507C>GCA495780246SALL1c.2715G>C (p.Val905=)
c.2424G>C (p.Val808=)
c.77-1955G>C (n.77-1955G>C)
dbSNP gnomAD v4
16g.51139507C>TCA495780247SALL1c.2715G>A (p.Val905=)
c.2424G>A (p.Val808=)
c.77-1955G>A (n.77-1955G>A)
16g.51139507_51139510delCA915949260SALL1c.2712_2715del (p.Gly906ValfsTer?)
c.2421_2424del (p.Gly809ValfsTer?)
c.77-1958_77-1955del (n.77-1958_77-1955del)
ClinVar dbSNP
16g.51139508A>CCA395884047SALL1c.2714T>G (p.Val905Gly)
c.2423T>G (p.Val808Gly)
c.77-1956T>G (n.77-1956T>G)
16g.51139508A>GCA395884048SALL1c.2714T>C (p.Val905Ala)
c.2423T>C (p.Val808Ala)
c.77-1956T>C (n.77-1956T>C)
16g.51139508A>TCA395884049SALL1c.2714T>A (p.Val905Glu)
c.2423T>A (p.Val808Glu)
c.77-1956T>A (n.77-1956T>A)
16g.51139509C>ACA395884050SALL1c.2713G>T (p.Val905Leu)
c.2422G>T (p.Val808Leu)
c.77-1957G>T (n.77-1957G>T)
dbSNP gnomAD v2 gnomAD v4
16g.51139509C=CA2222018171SALL1c.2713G= (p.Val905=)
c.2422G= (p.Val808=)
c.77-1957G= (n.77-1957G=)
16g.51139509C>GCA395884051SALL1c.2713G>C (p.Val905Leu)
c.2422G>C (p.Val808Leu)
c.77-1957G>C (n.77-1957G>C)
16g.51139509C>TCA395884052SALL1c.2713G>A (p.Val905Met)
c.2422G>A (p.Val808Met)
c.77-1957G>A (n.77-1957G>A)
16g.51139510T>ACA495780249SALL1c.2712A>T (p.Ser904=)
c.2421A>T (p.Ser807=)
c.77-1958A>T (n.77-1958A>T)
16g.51139510T>CCA495780248SALL1c.2712A>G (p.Ser904=)
c.2421A>G (p.Ser807=)
c.77-1958A>G (n.77-1958A>G)
16g.51139510T>GCA8053052SALL1c.2712A>C (p.Ser904=)
c.2421A>C (p.Ser807=)
c.77-1958A>C (n.77-1958A>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139510T=CA2222018174SALL1c.2712A= (p.Ser904=)
c.2421A= (p.Ser807=)
c.77-1958A= (n.77-1958A=)
16g.51139511G>ACA395884053SALL1c.2711C>T (p.Ser904Leu)
c.2420C>T (p.Ser807Leu)
c.77-1959C>T (n.77-1959C>T)
16g.51139511G>CCA395884055SALL1c.2711C>G (p.Ser904Ter)
c.2420C>G (p.Ser807Ter)
c.77-1959C>G (n.77-1959C>G)
16g.51139511G>TCA395884054SALL1c.2711C>A (p.Ser904Ter)
c.2420C>A (p.Ser807Ter)
c.77-1959C>A (n.77-1959C>A)
16g.51139512A>CCA395884056SALL1c.2710T>G (p.Ser904Ala)
c.2419T>G (p.Ser807Ala)
c.77-1960T>G (n.77-1960T>G)
16g.51139512A>GCA395884057SALL1c.2710T>C (p.Ser904Pro)
c.2419T>C (p.Ser807Pro)
c.77-1960T>C (n.77-1960T>C)
16g.51139512A>TCA395884058SALL1c.2710T>A (p.Ser904Thr)
c.2419T>A (p.Ser807Thr)
c.77-1960T>A (n.77-1960T>A)
16g.51139513G>ACA495780250SALL1c.2709C>T (p.Ser903=)
c.2418C>T (p.Ser806=)
c.77-1961C>T (n.77-1961C>T)
gnomAD v4
16g.51139513G>CCA8053053SALL1c.2709C>G (p.Ser903=)
c.2418C>G (p.Ser806=)
c.77-1961C>G (n.77-1961C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.51139513G=CA2222018176SALL1c.2709C= (p.Ser903=)
c.2418C= (p.Ser806=)
c.77-1961C= (n.77-1961C=)
16g.51139513G>TCA495780251SALL1c.2709C>A (p.Ser903=)
c.2418C>A (p.Ser806=)
c.77-1961C>A (n.77-1961C>A)
16g.51139514G>ACA395884059SALL1c.2708C>T (p.Ser903Phe)
c.2417C>T (p.Ser806Phe)
c.77-1962C>T (n.77-1962C>T)
gnomAD v4 COSMIC
16g.51139514G>CCA395884061SALL1c.2708C>G (p.Ser903Cys)
c.2417C>G (p.Ser806Cys)
c.77-1962C>G (n.77-1962C>G)
16g.51139514G>TCA395884060SALL1c.2708C>A (p.Ser903Tyr)
c.2417C>A (p.Ser806Tyr)
c.77-1962C>A (n.77-1962C>A)
16g.51139515A>CCA395884062SALL1c.2707T>G (p.Ser903Ala)
c.2416T>G (p.Ser806Ala)
c.77-1963T>G (n.77-1963T>G)
16g.51139515A>GCA395884063SALL1c.2707T>C (p.Ser903Pro)
c.2416T>C (p.Ser806Pro)
c.77-1963T>C (n.77-1963T>C)
gnomAD v4 COSMIC
16g.51139515A>TCA395884064SALL1c.2707T>A (p.Ser903Thr)
c.2416T>A (p.Ser806Thr)
c.77-1963T>A (n.77-1963T>A)
gnomAD v4
16g.51139516T>ACA495780252SALL1c.2706A>T (p.Ser902=)
c.2415A>T (p.Ser805=)
c.77-1964A>T (n.77-1964A>T)
16g.51139516T>CCA495780253SALL1c.2706A>G (p.Ser902=)
c.2415A>G (p.Ser805=)
c.77-1964A>G (n.77-1964A>G)
16g.51139516T>GCA495780254SALL1c.2706A>C (p.Ser902=)
c.2415A>C (p.Ser805=)
c.77-1964A>C (n.77-1964A>C)
16g.51139517G>ACA395884065SALL1c.2705C>T (p.Ser902Leu)
c.2414C>T (p.Ser805Leu)
c.77-1965C>T (n.77-1965C>T)
gnomAD v4
16g.51139517G>CCA395884066SALL1c.2705C>G (p.Ser902Ter)
c.2414C>G (p.Ser805Ter)
c.77-1965C>G (n.77-1965C>G)
16g.51139517G>TCA395884067SALL1c.2705C>A (p.Ser902Ter)
c.2414C>A (p.Ser805Ter)
c.77-1965C>A (n.77-1965C>A)
16g.51139518A>CCA395884068SALL1c.2704T>G (p.Ser902Ala)
c.2413T>G (p.Ser805Ala)
c.77-1966T>G (n.77-1966T>G)
16g.51139518A>GCA395884069SALL1c.2704T>C (p.Ser902Pro)
c.2413T>C (p.Ser805Pro)
c.77-1966T>C (n.77-1966T>C)
16g.51139518A>TCA395884070SALL1c.2704T>A (p.Ser902Thr)
c.2413T>A (p.Ser805Thr)
c.77-1966T>A (n.77-1966T>A)
16g.51139519A>CCA395884071SALL1c.2703T>G (p.Asp901Glu)
c.2412T>G (p.Asp804Glu)
c.77-1967T>G (n.77-1967T>G)
16g.51139519A>GCA495780255SALL1c.2703T>C (p.Asp901=)
c.2412T>C (p.Asp804=)
c.77-1967T>C (n.77-1967T>C)
16g.51139519A>TCA395884072SALL1c.2703T>A (p.Asp901Glu)
c.2412T>A (p.Asp804Glu)
c.77-1967T>A (n.77-1967T>A)
16g.51139520T>ACA395884073SALL1c.2702A>T (p.Asp901Val)
c.2411A>T (p.Asp804Val)
c.77-1968A>T (n.77-1968A>T)
16g.51139520T>CCA395884075SALL1c.2702A>G (p.Asp901Gly)
c.2411A>G (p.Asp804Gly)
c.77-1968A>G (n.77-1968A>G)
16g.51139520T>GCA395884074SALL1c.2702A>C (p.Asp901Ala)
c.2411A>C (p.Asp804Ala)
c.77-1968A>C (n.77-1968A>C)
16g.51139521C>ACA395884076SALL1c.2701G>T (p.Asp901Tyr)
c.2410G>T (p.Asp804Tyr)
c.77-1969G>T (n.77-1969G>T)
16g.51139521C>GCA395884078SALL1c.2701G>C (p.Asp901His)
c.2410G>C (p.Asp804His)
c.77-1969G>C (n.77-1969G>C)
16g.51139521C>TCA395884077SALL1c.2701G>A (p.Asp901Asn)
c.2410G>A (p.Asp804Asn)
c.77-1969G>A (n.77-1969G>A)
16g.51139522A>CCA395884079SALL1c.2700T>G (p.Asn900Lys)
c.2409T>G (p.Asn803Lys)
c.77-1970T>G (n.77-1970T>G)
16g.51139522A>GCA495780256SALL1c.2700T>C (p.Asn900=)
c.2409T>C (p.Asn803=)
c.77-1970T>C (n.77-1970T>C)
16g.51139522A>TCA395884080SALL1c.2700T>A (p.Asn900Lys)
c.2409T>A (p.Asn803Lys)
c.77-1970T>A (n.77-1970T>A)
16g.51139523T>ACA395884081SALL1c.2699A>T (p.Asn900Ile)
c.2408A>T (p.Asn803Ile)
c.77-1971A>T (n.77-1971A>T)
16g.51139523T>CCA395884082SALL1c.2699A>G (p.Asn900Ser)
c.2408A>G (p.Asn803Ser)
c.77-1971A>G (n.77-1971A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51139523T>GCA395884083SALL1c.2699A>C (p.Asn900Thr)
c.2408A>C (p.Asn803Thr)
c.77-1971A>C (n.77-1971A>C)
16g.51139523T=CA2222018179SALL1c.2699A= (p.Asn900=)
c.2408A= (p.Asn803=)
c.77-1971A= (n.77-1971A=)
16g.51139524T>ACA395884084SALL1c.2698A>T (p.Asn900Tyr)
c.2407A>T (p.Asn803Tyr)
c.77-1972A>T (n.77-1972A>T)
16g.51139524T>CCA395884085SALL1c.2698A>G (p.Asn900Asp)
c.2407A>G (p.Asn803Asp)
c.77-1972A>G (n.77-1972A>G)
COSMIC
16g.51139524T>GCA395884086SALL1c.2698A>C (p.Asn900His)
c.2407A>C (p.Asn803His)
c.77-1972A>C (n.77-1972A>C)

Number of alleles fetched