Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.135804715T>CCA2661274713LCTc.4464+52A>G (n.4464+52A>G)
c.2760+52A>G (n.2760+52A>G)
 dbSNP gnomAD v4
2g.135804716G>ACA2577107960LCTc.4464+51C>T (n.4464+51C>T)
c.2760+51C>T (n.2760+51C>T)
 gnomAD v4
2g.135804716G>CCA2661274716LCTc.4464+51C>G (n.4464+51C>G)
c.2760+51C>G (n.2760+51C>G)
 gnomAD v4
2g.135804716G>TCA2661274717LCTc.4464+51C>A (n.4464+51C>A)
c.2760+51C>A (n.2760+51C>A)
 gnomAD v4
2g.135804719G=CA1290829286LCTc.4464+48C= (n.4464+48C=)
c.2760+48C= (n.2760+48C=)
2g.135804719G>TCA1036798358LCTc.4464+48C>A (n.4464+48C>A)
c.2760+48C>A (n.2760+48C>A)
 dbSNP gnomAD v3 gnomAD v4
2g.135804720delCA2661274718LCTc.4464+48del (n.4464+48del)
c.2760+48del (n.2760+48del)
 gnomAD v4
2g.135804720G>ACA56609557LCTc.4464+47C>T (n.4464+47C>T)
c.2760+47C>T (n.2760+47C>T)
 dbSNP gnomAD v4
2g.135804720G=CA1290829287LCTc.4464+47C= (n.4464+47C=)
c.2760+47C= (n.2760+47C=)
2g.135804720G>TCA2661274719LCTc.4464+47C>A (n.4464+47C>A)
c.2760+47C>A (n.2760+47C>A)
 gnomAD v4
2g.135804722_135804725dupCA1887841LCTc.4464+43_4464+46dup (n.4464+43_4464+46dup)
c.2760+43_2760+46dup (n.2760+43_2760+46dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.135804722T>ACA757427303LCTc.4464+45A>T (n.4464+45A>T)
c.2760+45A>T (n.2760+45A>T)
 dbSNP
2g.135804722T=CA1290829288LCTc.4464+45A= (n.4464+45A=)
c.2760+45A= (n.2760+45A=)
2g.135804723C=CA1290829289LCTc.4464+44G= (n.4464+44G=)
c.2760+44G= (n.2760+44G=)
2g.135804723C>TCA56609569LCTc.4464+44G>A (n.4464+44G>A)
c.2760+44G>A (n.2760+44G>A)
 dbSNP gnomAD v4
2g.135804724C=CA1290829290LCTc.4464+43G= (n.4464+43G=)
c.2760+43G= (n.2760+43G=)
2g.135804724C>TCA1036798361LCTc.4464+43G>A (n.4464+43G>A)
c.2760+43G>A (n.2760+43G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.135804725delCA2577107961LCTc.4464+42del (n.4464+42del)
c.2760+42del (n.2760+42del)
2g.135804726G>ACA1887842LCTc.4464+41C>T (n.4464+41C>T)
c.2760+41C>T (n.2760+41C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135804726G>CCA1887843LCTc.4464+41C>G (n.4464+41C>G)
c.2760+41C>G (n.2760+41C>G)
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.135804726G=CA1290829291LCTc.4464+41C= (n.4464+41C=)
c.2760+41C= (n.2760+41C=)
2g.135804726G>TCA2661274723LCTc.4464+41C>A (n.4464+41C>A)
c.2760+41C>A (n.2760+41C>A)
 gnomAD v4
2g.135804727C>TCA2661274728LCTc.4464+40G>A (n.4464+40G>A)
c.2760+40G>A (n.2760+40G>A)
 gnomAD v4
2g.135804728A>CCA2661274729LCTc.4464+39T>G (n.4464+39T>G)
c.2760+39T>G (n.2760+39T>G)
 gnomAD v4
2g.135804728_135804736delinsATGTGGACTCA1290829292LCTc.4464+31_4464+39delinsAGTCCACAT (n.4464+31_4464+39delinsAGTCCACAT)
c.2760+31_2760+39delinsAGTCCACAT (n.2760+31_2760+39delinsAGTCCACAT)
2g.135804729T>ACA2661274735LCTc.4464+38A>T (n.4464+38A>T)
c.2760+38A>T (n.2760+38A>T)
 gnomAD v4
2g.135804729T>CCA1887845LCTc.4464+38A>G (n.4464+38A>G)
c.2760+38A>G (n.2760+38A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.135804729T>GCA2661274736LCTc.4464+38A>C (n.4464+38A>C)
c.2760+38A>C (n.2760+38A>C)
 gnomAD v4
2g.135804729T=CA1290829293LCTc.4464+38A= (n.4464+38A=)
c.2760+38A= (n.2760+38A=)
2g.135804730_135804737delCA1887844LCTc.4464+31_4464+38del (n.4464+31_4464+38del)
c.2760+31_2760+38del (n.2760+31_2760+38del)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.135804730G>ACA757427332LCTc.4464+37C>T (n.4464+37C>T)
c.2760+37C>T (n.2760+37C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.135804730G=CA1290829294LCTc.4464+37C= (n.4464+37C=)
c.2760+37C= (n.2760+37C=)
2g.135804730G>TCA2661274739LCTc.4464+37C>A (n.4464+37C>A)
c.2760+37C>A (n.2760+37C>A)
 gnomAD v4
2g.135804731T>CCA2661274740LCTc.4464+36A>G (n.4464+36A>G)
c.2760+36A>G (n.2760+36A>G)
 gnomAD v4
2g.135804732G>ACA2661274742LCTc.4464+35C>T (n.4464+35C>T)
c.2760+35C>T (n.2760+35C>T)
 gnomAD v4
2g.135804732G>TCA2661274743LCTc.4464+35C>A (n.4464+35C>A)
c.2760+35C>A (n.2760+35C>A)
 gnomAD v4
2g.135804733delCA2661274741LCTc.4464+35del (n.4464+35del)
c.2760+35del (n.2760+35del)
 gnomAD v4
2g.135804733G>TCA2661274744LCTc.4464+34C>A (n.4464+34C>A)
c.2760+34C>A (n.2760+34C>A)
 gnomAD v4
2g.135804735C>ACA2661274745LCTc.4464+32G>T (n.4464+32G>T)
c.2760+32G>T (n.2760+32G>T)
 gnomAD v4
2g.135804736T>CCA1290829295LCTc.4464+31A>G (n.4464+31A>G)
c.2760+31A>G (n.2760+31A>G)
 dbSNP
2g.135804736T=CA1290829296LCTc.4464+31A= (n.4464+31A=)
c.2760+31A= (n.2760+31A=)
2g.135804738T>CCA2661274746LCTc.4464+29A>G (n.4464+29A>G)
c.2760+29A>G (n.2760+29A>G)
 gnomAD v4
2g.135804739C>ACA56609590LCTc.4464+28G>T (n.4464+28G>T)
c.2760+28G>T (n.2760+28G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135804739C=CA1290829297LCTc.4464+28G= (n.4464+28G=)
c.2760+28G= (n.2760+28G=)
2g.135804739C>TCA1887846LCTc.4464+28G>A (n.4464+28G>A)
c.2760+28G>A (n.2760+28G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135804740C=CA1290829298LCTc.4464+27G= (n.4464+27G=)
c.2760+27G= (n.2760+27G=)
2g.135804740C>TCA56609591LCTc.4464+27G>A (n.4464+27G>A)
c.2760+27G>A (n.2760+27G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135804741C=CA1290829299LCTc.4464+26G= (n.4464+26G=)
c.2760+26G= (n.2760+26G=)
2g.135804741C>TCA56609594LCTc.4464+26G>A (n.4464+26G>A)
c.2760+26G>A (n.2760+26G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.135804744G>CCA1887847LCTc.4464+23C>G (n.4464+23C>G)
c.2760+23C>G (n.2760+23C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135804744G=CA1290829300LCTc.4464+23C= (n.4464+23C=)
c.2760+23C= (n.2760+23C=)
2g.135804745G=CA1290829301LCTc.4464+22C= (n.4464+22C=)
c.2760+22C= (n.2760+22C=)
2g.135804745G>TCA536395019LCTc.4464+22C>A (n.4464+22C>A)
c.2760+22C>A (n.2760+22C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135804746C>TCA2661274749LCTc.4464+21G>A (n.4464+21G>A)
c.2760+21G>A (n.2760+21G>A)
 gnomAD v4
2g.135804750G>ACA757427343LCTc.4464+17C>T (n.4464+17C>T)
c.2760+17C>T (n.2760+17C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.135804750G=CA1290829302LCTc.4464+17C= (n.4464+17C=)
c.2760+17C= (n.2760+17C=)
2g.135804750G>TCA1887848LCTc.4464+17C>A (n.4464+17C>A)
c.2760+17C>A (n.2760+17C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135804751C>ACA2661274759LCTc.4464+16G>T (n.4464+16G>T)
c.2760+16G>T (n.2760+16G>T)
 gnomAD v4
2g.135804751C>TCA2577107962LCTc.4464+16G>A (n.4464+16G>A)
c.2760+16G>A (n.2760+16G>A)
2g.135804752C>TCA2661274761LCTc.4464+15G>A (n.4464+15G>A)
c.2760+15G>A (n.2760+15G>A)
 gnomAD v4
2g.135804753A=CA1290829303LCTc.4464+14T= (n.4464+14T=)
c.2760+14T= (n.2760+14T=)
2g.135804753A>GCA536395021LCTc.4464+14T>C (n.4464+14T>C)
c.2760+14T>C (n.2760+14T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.135804755G>CCA536395022LCTc.4464+12C>G (n.4464+12C>G)
c.2760+12C>G (n.2760+12C>G)
 dbSNP gnomAD v2
2g.135804755G=CA1290829304LCTc.4464+12C= (n.4464+12C=)
c.2760+12C= (n.2760+12C=)
2g.135804755G>TCA1887849LCTc.4464+12C>A (n.4464+12C>A)
c.2760+12C>A (n.2760+12C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135804756A=CA1290829305LCTc.4464+11T= (n.4464+11T=)
c.2760+11T= (n.2760+11T=)
2g.135804756A>CCA1290829306LCTc.4464+11T>G (n.4464+11T>G)
c.2760+11T>G (n.2760+11T>G)
 dbSNP
2g.135804757C>ACA1290829308LCTc.4464+10G>T (n.4464+10G>T)
c.2760+10G>T (n.2760+10G>T)
 dbSNP
2g.135804757C=CA1290829307LCTc.4464+10G= (n.4464+10G=)
c.2760+10G= (n.2760+10G=)
2g.135804757C>TCA536395023LCTc.4464+10G>A (n.4464+10G>A)
c.2760+10G>A (n.2760+10G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135804758C=CA1290829309LCTc.4464+9G= (n.4464+9G=)
c.2760+9G= (n.2760+9G=)
2g.135804758C>TCA1887850LCTc.4464+9G>A (n.4464+9G>A)
c.2760+9G>A (n.2760+9G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.135804759C>ACA536395024LCTc.4464+8G>T (n.4464+8G>T)
c.2760+8G>T (n.2760+8G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.135804759C=CA1290829310LCTc.4464+8G= (n.4464+8G=)
c.2760+8G= (n.2760+8G=)
2g.135804760A=CA1290829311LCTc.4464+7T= (n.4464+7T=)
c.2760+7T= (n.2760+7T=)
2g.135804760A>CCA1887851LCTc.4464+7T>G (n.4464+7T>G)
c.2760+7T>G (n.2760+7T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135804762C=CA1290829312LCTc.4464+5G= (n.4464+5G=)
c.2760+5G= (n.2760+5G=)
2g.135804762C>TCA1036798374LCTc.4464+5G>A (n.4464+5G>A)
c.2760+5G>A (n.2760+5G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.135804763A>GCA2661274777LCTc.4464+4T>C (n.4464+4T>C)
c.2760+4T>C (n.2760+4T>C)
 gnomAD v4
2g.135804765A>CCA348595488LCTc.4464+2T>G (n.4464+2T>G)
c.2760+2T>G (n.2760+2T>G)
2g.135804765A>GCA348595492LCTc.4464+2T>C (n.4464+2T>C)
c.2760+2T>C (n.2760+2T>C)
2g.135804765A>TCA348595491LCTc.4464+2T>A (n.4464+2T>A)
c.2760+2T>A (n.2760+2T>A)
2g.135804766C>ACA348595494LCTc.4464+1G>T (n.4464+1G>T)
c.2760+1G>T (n.2760+1G>T)
2g.135804766C>GCA348595496LCTc.4464+1G>C (n.4464+1G>C)
c.2760+1G>C (n.2760+1G>C)
2g.135804766C>TCA348595497LCTc.4464+1G>A (n.4464+1G>A)
c.2760+1G>A (n.2760+1G>A)
2g.135804766_135804768dupCA2661274778LCTc.4463_4464+1dup
c.2759_2760+1dup
 gnomAD v4
2g.135804767C>ACA348595499LCTc.4464G>T (p.Gln1488His)
c.2760G>T (p.Gln920His)
2g.135804767C>GCA348595500LCTc.4464G>C (p.Gln1488His)
c.2760G>C (p.Gln920His)
2g.135804767C>TCA429086842LCTc.4464G>A (p.Gln1488=)
c.2760G>A (p.Gln920=)
 COSMIC
2g.135804768T>ACA348595502LCTc.4463A>T (p.Gln1488Leu)
c.2759A>T (p.Gln920Leu)
2g.135804768T>CCA348595503LCTc.4463A>G (p.Gln1488Arg)
c.2759A>G (p.Gln920Arg)
2g.135804768T>GCA348595506LCTc.4463A>C (p.Gln1488Pro)
c.2759A>C (p.Gln920Pro)
 ClinVar dbSNP
2g.135804769G>ACA348595509LCTc.4462C>T (p.Gln1488Ter)
c.2758C>T (p.Gln920Ter)
 COSMIC
2g.135804769G>CCA348595510LCTc.4462C>G (p.Gln1488Glu)
c.2758C>G (p.Gln920Glu)
2g.135804769G>TCA348595513LCTc.4462C>A (p.Gln1488Lys)
c.2758C>A (p.Gln920Lys)
2g.135804770G>ACA429086843LCTc.4461C>T (p.Pro1487=)
c.2757C>T (p.Pro919=)
2g.135804770G>CCA429086844LCTc.4461C>G (p.Pro1487=)
c.2757C>G (p.Pro919=)
2g.135804770G>TCA429086845LCTc.4461C>A (p.Pro1487=)
c.2757C>A (p.Pro919=)
2g.135804771G>ACA1887852LCTc.4460C>T (p.Pro1487Leu)
c.2756C>T (p.Pro919Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.135804771G>CCA348595520LCTc.4460C>G (p.Pro1487Arg)
c.2756C>G (p.Pro919Arg)
2g.135804771G=CA1290829313LCTc.4460C= (p.Pro1487=)
c.2756C= (p.Pro919=)
2g.135804771G>TCA348595518LCTc.4460C>A (p.Pro1487His)
c.2756C>A (p.Pro919His)
2g.135804772G>ACA348595522LCTc.4459C>T (p.Pro1487Ser)
c.2755C>T (p.Pro919Ser)
2g.135804772G>CCA348595523LCTc.4459C>G (p.Pro1487Ala)
c.2755C>G (p.Pro919Ala)
2g.135804772G>TCA348595529LCTc.4459C>A (p.Pro1487Thr)
c.2755C>A (p.Pro919Thr)
2g.135804773C>ACA348595537LCTc.4458G>T (p.Gln1486His)
c.2754G>T (p.Gln918His)
2g.135804773C=CA1290829314LCTc.4458G= (p.Gln1486=)
c.2754G= (p.Gln918=)
2g.135804773C>GCA1887853LCTc.4458G>C (p.Gln1486His)
c.2754G>C (p.Gln918His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135804773C>TCA429086846LCTc.4458G>A (p.Gln1486=)
c.2754G>A (p.Gln918=)
2g.135804774T>ACA348595543LCTc.4457A>T (p.Gln1486Leu)
c.2753A>T (p.Gln918Leu)
2g.135804774T>CCA348595545LCTc.4457A>G (p.Gln1486Arg)
c.2753A>G (p.Gln918Arg)
2g.135804774T>GCA348595547LCTc.4457A>C (p.Gln1486Pro)
c.2753A>C (p.Gln918Pro)
2g.135804775G>ACA348595551LCTc.4456C>T (p.Gln1486Ter)
c.2752C>T (p.Gln918Ter)
 dbSNP gnomAD v4
2g.135804775G>CCA348595554LCTc.4456C>G (p.Gln1486Glu)
c.2752C>G (p.Gln918Glu)
2g.135804775G=CA1290829315LCTc.4456C= (p.Gln1486=)
c.2752C= (p.Gln918=)
2g.135804775G>TCA348595557LCTc.4456C>A (p.Gln1486Lys)
c.2752C>A (p.Gln918Lys)
2g.135804776G>ACA429086848LCTc.4455C>T (p.Ile1485=)
c.2751C>T (p.Ile917=)
 dbSNP gnomAD v2 gnomAD v4
2g.135804776G>CCA348595560LCTc.4455C>G (p.Ile1485Met)
c.2751C>G (p.Ile917Met)
2g.135804776G=CA1290829316LCTc.4455C= (p.Ile1485=)
c.2751C= (p.Ile917=)
2g.135804776G>TCA429086847LCTc.4455C>A (p.Ile1485=)
c.2751C>A (p.Ile917=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.135804777A>CCA348595569LCTc.4454T>G (p.Ile1485Ser)
c.2750T>G (p.Ile917Ser)
2g.135804777A>GCA348595564LCTc.4454T>C (p.Ile1485Thr)
c.2750T>C (p.Ile917Thr)
2g.135804777A>TCA348595567LCTc.4454T>A (p.Ile1485Asn)
c.2750T>A (p.Ile917Asn)
2g.135804778T>ACA348595573LCTc.4453A>T (p.Ile1485Phe)
c.2749A>T (p.Ile917Phe)
2g.135804778T>CCA348595575LCTc.4453A>G (p.Ile1485Val)
c.2749A>G (p.Ile917Val)
2g.135804778T>GCA348595576LCTc.4453A>C (p.Ile1485Leu)
c.2749A>C (p.Ile917Leu)
2g.135804779G>ACA429086849LCTc.4452C>T (p.Ser1484=)
c.2748C>T (p.Ser916=)
2g.135804779G>CCA348595580LCTc.4452C>G (p.Ser1484Arg)
c.2748C>G (p.Ser916Arg)
2g.135804779G>TCA348595582LCTc.4452C>A (p.Ser1484Arg)
c.2748C>A (p.Ser916Arg)
2g.135804780C>ACA348595585LCTc.4451G>T (p.Ser1484Ile)
c.2747G>T (p.Ser916Ile)
2g.135804780C>GCA348595588LCTc.4451G>C (p.Ser1484Thr)
c.2747G>C (p.Ser916Thr)
2g.135804780C>TCA348595590LCTc.4451G>A (p.Ser1484Asn)
c.2747G>A (p.Ser916Asn)
2g.135804781T>ACA348595593LCTc.4450A>T (p.Ser1484Cys)
c.2746A>T (p.Ser916Cys)
2g.135804781T>CCA1887854LCTc.4450A>G (p.Ser1484Gly)
c.2746A>G (p.Ser916Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.135804781T>GCA348595597LCTc.4450A>C (p.Ser1484Arg)
c.2746A>C (p.Ser916Arg)
2g.135804781T=CA1290829317LCTc.4450A= (p.Ser1484=)
c.2746A= (p.Ser916=)
2g.135804782G>ACA429086852LCTc.4449C>T (p.Ala1483=)
c.2745C>T (p.Ala915=)
 ClinVar dbSNP gnomAD v2 COSMIC
2g.135804782G>CCA429086850LCTc.4449C>G (p.Ala1483=)
c.2745C>G (p.Ala915=)
2g.135804782G=CA1290829318LCTc.4449C= (p.Ala1483=)
c.2745C= (p.Ala915=)
2g.135804782G>TCA429086851LCTc.4449C>A (p.Ala1483=)
c.2745C>A (p.Ala915=)
2g.135804783G>ACA348595603LCTc.4448C>T (p.Ala1483Val)
c.2744C>T (p.Ala915Val)
 gnomAD v4
2g.135804783G>CCA348595604LCTc.4448C>G (p.Ala1483Gly)
c.2744C>G (p.Ala915Gly)
 gnomAD v4
2g.135804783G>TCA348595601LCTc.4448C>A (p.Ala1483Asp)
c.2744C>A (p.Ala915Asp)
2g.135804784C>ACA1887855LCTc.4447G>T (p.Ala1483Ser)
c.2743G>T (p.Ala915Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135804784C=CA1290829319LCTc.4447G= (p.Ala1483=)
c.2743G= (p.Ala915=)
2g.135804784C>GCA348595606LCTc.4447G>C (p.Ala1483Pro)
c.2743G>C (p.Ala915Pro)
2g.135804784C>TCA1887856LCTc.4447G>A (p.Ala1483Thr)
c.2743G>A (p.Ala915Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.135804785G>ACA1887857LCTc.4446C>T (p.Ala1482=)
c.2742C>T (p.Ala914=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135804785G>CCA429086853LCTc.4446C>G (p.Ala1482=)
c.2742C>G (p.Ala914=)
2g.135804785G=CA1290829320LCTc.4446C= (p.Ala1482=)
c.2742C= (p.Ala914=)
2g.135804785G>TCA1887858LCTc.4446C>A (p.Ala1482=)
c.2742C>A (p.Ala914=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.135804786G>ACA348595615LCTc.4445C>T (p.Ala1482Val)
c.2741C>T (p.Ala914Val)
2g.135804786G>CCA348595617LCTc.4445C>G (p.Ala1482Gly)
c.2741C>G (p.Ala914Gly)
2g.135804786G>TCA348595619LCTc.4445C>A (p.Ala1482Asp)
c.2741C>A (p.Ala914Asp)
2g.135804787C>ACA348595623LCTc.4444G>T (p.Ala1482Ser)
c.2740G>T (p.Ala914Ser)
2g.135804787C=CA1290829321LCTc.4444G= (p.Ala1482=)
c.2740G= (p.Ala914=)
2g.135804787C>GCA348595625LCTc.4444G>C (p.Ala1482Pro)
c.2740G>C (p.Ala914Pro)
 dbSNP
2g.135804787C>TCA348595628LCTc.4444G>A (p.Ala1482Thr)
c.2740G>A (p.Ala914Thr)
2g.135804788C>ACA1887859LCTc.4443G>T (p.Leu1481=)
c.2739G>T (p.Leu913=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.135804788C=CA1290829322LCTc.4443G= (p.Leu1481=)
c.2739G= (p.Leu913=)
2g.135804788C>GCA429086854LCTc.4443G>C (p.Leu1481=)
c.2739G>C (p.Leu913=)
2g.135804788C>TCA429086855LCTc.4443G>A (p.Leu1481=)
c.2739G>A (p.Leu913=)
2g.135804789A>CCA348595640LCTc.4442T>G (p.Leu1481Arg)
c.2738T>G (p.Leu913Arg)
2g.135804789A>GCA348595638LCTc.4442T>C (p.Leu1481Pro)
c.2738T>C (p.Leu913Pro)
2g.135804789A>TCA348595635LCTc.4442T>A (p.Leu1481Gln)
c.2738T>A (p.Leu913Gln)
2g.135804790G>ACA429086856LCTc.4441C>T (p.Leu1481=)
c.2737C>T (p.Leu913=)
2g.135804790G>CCA348595642LCTc.4441C>G (p.Leu1481Val)
c.2737C>G (p.Leu913Val)
 gnomAD v4
2g.135804790G>TCA348595643LCTc.4441C>A (p.Leu1481Met)
c.2737C>A (p.Leu913Met)
2g.135804791C>ACA429086859LCTc.4440G>T (p.Leu1480=)
c.2736G>T (p.Leu912=)
2g.135804791C>GCA429086858LCTc.4440G>C (p.Leu1480=)
c.2736G>C (p.Leu912=)
2g.135804791C>TCA429086857LCTc.4440G>A (p.Leu1480=)
c.2736G>A (p.Leu912=)
2g.135804792A=CA1290829323LCTc.4439T= (p.Leu1480=)
c.2735T= (p.Leu912=)
2g.135804792A>CCA348595645LCTc.4439T>G (p.Leu1480Arg)
c.2735T>G (p.Leu912Arg)
 dbSNP
2g.135804792A>GCA348595647LCTc.4439T>C (p.Leu1480Pro)
c.2735T>C (p.Leu912Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.135804792A>TCA348595649LCTc.4439T>A (p.Leu1480Gln)
c.2735T>A (p.Leu912Gln)
2g.135804793G>ACA429086860LCTc.4438C>T (p.Leu1480=)
c.2734C>T (p.Leu912=)
2g.135804793G>CCA348595652LCTc.4438C>G (p.Leu1480Val)
c.2734C>G (p.Leu912Val)
2g.135804793G=CA1290829324LCTc.4438C= (p.Leu1480=)
c.2734C= (p.Leu912=)
2g.135804793G>TCA348595656LCTc.4438C>A (p.Leu1480Met)
c.2734C>A (p.Leu912Met)
 dbSNP gnomAD v2
2g.135804794T>ACA429086861LCTc.4437A>T (p.Thr1479=)
c.2733A>T (p.Thr911=)
2g.135804794T>CCA429086862LCTc.4437A>G (p.Thr1479=)
c.2733A>G (p.Thr911=)
2g.135804794T>GCA429086863LCTc.4437A>C (p.Thr1479=)
c.2733A>C (p.Thr911=)
2g.135804795G>ACA348595660LCTc.4436C>T (p.Thr1479Ile)
c.2732C>T (p.Thr911Ile)
2g.135804795G>CCA348595663LCTc.4436C>G (p.Thr1479Arg)
c.2732C>G (p.Thr911Arg)
2g.135804795G>TCA348595666LCTc.4436C>A (p.Thr1479Lys)
c.2732C>A (p.Thr911Lys)
2g.135804796T>ACA348595669LCTc.4435A>T (p.Thr1479Ser)
c.2731A>T (p.Thr911Ser)
2g.135804796T>CCA348595671LCTc.4435A>G (p.Thr1479Ala)
c.2731A>G (p.Thr911Ala)
2g.135804796T>GCA348595673LCTc.4435A>C (p.Thr1479Pro)
c.2731A>C (p.Thr911Pro)
2g.135804797A=CA1290829325LCTc.4434T= (p.Asp1478=)
c.2730T= (p.Asp910=)
2g.135804797A>CCA348595678LCTc.4434T>G (p.Asp1478Glu)
c.2730T>G (p.Asp910Glu)
2g.135804797A>GCA1887860LCTc.4434T>C (p.Asp1478=)
c.2730T>C (p.Asp910=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135804797A>TCA348595675LCTc.4434T>A (p.Asp1478Glu)
c.2730T>A (p.Asp910Glu)
2g.135804798T>ACA348595681LCTc.4433A>T (p.Asp1478Val)
c.2729A>T (p.Asp910Val)
2g.135804798T>CCA348595683LCTc.4433A>G (p.Asp1478Gly)
c.2729A>G (p.Asp910Gly)
2g.135804798T>GCA348595686LCTc.4433A>C (p.Asp1478Ala)
c.2729A>C (p.Asp910Ala)
2g.135804799C>ACA348595689LCTc.4432G>T (p.Asp1478Tyr)
c.2728G>T (p.Asp910Tyr)
 dbSNP gnomAD v4
2g.135804799C=CA1290829326LCTc.4432G= (p.Asp1478=)
c.2728G= (p.Asp910=)
2g.135804799C>GCA348595691LCTc.4432G>C (p.Asp1478His)
c.2728G>C (p.Asp910His)
2g.135804799C>TCA348595692LCTc.4432G>A (p.Asp1478Asn)
c.2728G>A (p.Asp910Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.135804800G>ACA1887861LCTc.4431C>T (p.Ile1477=)
c.2727C>T (p.Ile909=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135804800G>CCA348595694LCTc.4431C>G (p.Ile1477Met)
c.2727C>G (p.Ile909Met)
 gnomAD v4
2g.135804800G=CA1290829327LCTc.4431C= (p.Ile1477=)
c.2727C= (p.Ile909=)
2g.135804800G>TCA429086864LCTc.4431C>A (p.Ile1477=)
c.2727C>A (p.Ile909=)
2g.135804801A>CCA348595699LCTc.4430T>G (p.Ile1477Ser)
c.2726T>G (p.Ile909Ser)
2g.135804801A>GCA348595700LCTc.4430T>C (p.Ile1477Thr)
c.2726T>C (p.Ile909Thr)
2g.135804801A>TCA348595703LCTc.4430T>A (p.Ile1477Asn)
c.2726T>A (p.Ile909Asn)
2g.135804802T>ACA348595706LCTc.4429A>T (p.Ile1477Phe)
c.2725A>T (p.Ile909Phe)
2g.135804802T>CCA348595709LCTc.4429A>G (p.Ile1477Val)
c.2725A>G (p.Ile909Val)
 gnomAD v4
2g.135804802T>GCA348595711LCTc.4429A>C (p.Ile1477Leu)
c.2725A>C (p.Ile909Leu)
 gnomAD v4
2g.135804803G>ACA429202968LCTc.4428C>T (p.Leu1476=)
c.2724C>T (p.Leu908=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.135804803G>CCA429202969LCTc.4428C>G (p.Leu1476=)
c.2724C>G (p.Leu908=)
2g.135804803G=CA1290829328LCTc.4428C= (p.Leu1476=)
c.2724C= (p.Leu908=)
2g.135804803G>TCA429202971LCTc.4428C>A (p.Leu1476=)
c.2724C>A (p.Leu908=)
2g.135804804A=CA1290829329LCTc.4427T= (p.Leu1476=)
c.2723T= (p.Leu908=)
2g.135804804A>CCA348595713LCTc.4427T>G (p.Leu1476Arg)
c.2723T>G (p.Leu908Arg)
2g.135804804A>GCA1887862LCTc.4427T>C (p.Leu1476Pro)
c.2723T>C (p.Leu908Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.135804804A>TCA348595715LCTc.4427T>A (p.Leu1476His)
c.2723T>A (p.Leu908His)
2g.135804805G>ACA348595720LCTc.4426C>T (p.Leu1476Phe)
c.2722C>T (p.Leu908Phe)
 dbSNP gnomAD v2 gnomAD v4
2g.135804805G>CCA56609684LCTc.4426C>G (p.Leu1476Val)
c.2722C>G (p.Leu908Val)
 dbSNP
2g.135804805G=CA1290829330LCTc.4426C= (p.Leu1476=)
c.2722C= (p.Leu908=)
2g.135804805G>TCA348595724LCTc.4426C>A (p.Leu1476Ile)
c.2722C>A (p.Leu908Ile)
2g.135804806C>ACA348595725LCTc.4425G>T (p.Arg1475Ser)
c.2721G>T (p.Arg907Ser)
 ClinVar
2g.135804806C>GCA348595726LCTc.4425G>C (p.Arg1475Ser)
c.2721G>C (p.Arg907Ser)
2g.135804806C>TCA429202976LCTc.4425G>A (p.Arg1475=)
c.2721G>A (p.Arg907=)
2g.135804807C>ACA348595729LCTc.4424G>T (p.Arg1475Met)
c.2720G>T (p.Arg907Met)
2g.135804807C=CA1290829331LCTc.4424G= (p.Arg1475=)
c.2720G= (p.Arg907=)
2g.135804807C>GCA348595731LCTc.4424G>C (p.Arg1475Thr)
c.2720G>C (p.Arg907Thr)
2g.135804807C>TCA348595734LCTc.4424G>A (p.Arg1475Lys)
c.2720G>A (p.Arg907Lys)
 dbSNP gnomAD v2 gnomAD v4
2g.135804808T>ACA348595736LCTc.4423A>T (p.Arg1475Trp)
c.2719A>T (p.Arg907Trp)
2g.135804808T>CCA348595739LCTc.4423A>G (p.Arg1475Gly)
c.2719A>G (p.Arg907Gly)
2g.135804808T>GCA429202980LCTc.4423A>C (p.Arg1475=)
c.2719A>C (p.Arg907=)
2g.135804809C>ACA429202981LCTc.4422G>T (p.Val1474=)
c.2718G>T (p.Val906=)
2g.135804809C=CA1290829332LCTc.4422G= (p.Val1474=)
c.2718G= (p.Val906=)
2g.135804809C>GCA429202982LCTc.4422G>C (p.Val1474=)
c.2718G>C (p.Val906=)
2g.135804809C>TCA429202983LCTc.4422G>A (p.Val1474=)
c.2718G>A (p.Val906=)
 dbSNP gnomAD v4
2g.135804810A=CA1290829333LCTc.4421T= (p.Val1474=)
c.2717T= (p.Val906=)
2g.135804810A>CCA348595742LCTc.4421T>G (p.Val1474Gly)
c.2717T>G (p.Val906Gly)
2g.135804810A>GCA348595745LCTc.4421T>C (p.Val1474Ala)
c.2717T>C (p.Val906Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.135804810A>TCA348595747LCTc.4421T>A (p.Val1474Glu)
c.2717T>A (p.Val906Glu)
 gnomAD v4
2g.135804811C>ACA348595751LCTc.4420G>T (p.Val1474Leu)
c.2716G>T (p.Val906Leu)
2g.135804811C=CA1290829334LCTc.4420G= (p.Val1474=)
c.2716G= (p.Val906=)
2g.135804811C>GCA348595754LCTc.4420G>C (p.Val1474Leu)
c.2716G>C (p.Val906Leu)
2g.135804811C>TCA1887863LCTc.4420G>A (p.Val1474Met)
c.2716G>A (p.Val906Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135804812G>ACA1887864LCTc.4419C>T (p.Tyr1473=)
c.2715C>T (p.Tyr905=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.135804812G>CCA144315LCTc.4419C>G (p.Tyr1473Ter)
c.2715C>G (p.Tyr905Ter)
 ClinVar dbSNP
2g.135804812G=CA1290829335LCTc.4419C= (p.Tyr1473=)
c.2715C= (p.Tyr905=)
2g.135804812G>TCA348595759LCTc.4419C>A (p.Tyr1473Ter)
c.2715C>A (p.Tyr905Ter)
2g.135804813T>ACA348595764LCTc.4418A>T (p.Tyr1473Phe)
c.2714A>T (p.Tyr905Phe)
2g.135804813T>CCA348595768LCTc.4418A>G (p.Tyr1473Cys)
c.2714A>G (p.Tyr905Cys)
2g.135804813T>GCA348595765LCTc.4418A>C (p.Tyr1473Ser)
c.2714A>C (p.Tyr905Ser)
 gnomAD v4
2g.135804814A>CCA348595770LCTc.4417T>G (p.Tyr1473Asp)
c.2713T>G (p.Tyr905Asp)
2g.135804814A>GCA348595773LCTc.4417T>C (p.Tyr1473His)
c.2713T>C (p.Tyr905His)
 gnomAD v4
2g.135804814A>TCA348595772LCTc.4417T>A (p.Tyr1473Asn)
c.2713T>A (p.Tyr905Asn)
2g.135804815G>ACA429202990LCTc.4416C>T (p.Tyr1472=)
c.2712C>T (p.Tyr904=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135804815G>CCA348595777LCTc.4416C>G (p.Tyr1472Ter)
c.2712C>G (p.Tyr904Ter)
2g.135804815G=CA1290829336LCTc.4416C= (p.Tyr1472=)
c.2712C= (p.Tyr904=)
2g.135804815G>TCA348595779LCTc.4416C>A (p.Tyr1472Ter)
c.2712C>A (p.Tyr904Ter)
 gnomAD v4

Number of alleles fetched