Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38925356A>CCA2665132272SCN11Ac.712+59T>G (n.712+59T>G)
c.756+59T>G (n.756+59T>G)
c.131+59T>G (n.131+59T>G)
c.1087+59T>G (n.1087+59T>G)
c.439+59T>G (n.439+59T>G)
 gnomAD v4
3g.38925356A>TCA2577555149SCN11Ac.712+59T>A (n.712+59T>A)
c.756+59T>A (n.756+59T>A)
c.131+59T>A (n.131+59T>A)
c.1087+59T>A (n.1087+59T>A)
c.439+59T>A (n.439+59T>A)
 gnomAD v4
3g.38925357A>TCA2577555150SCN11Ac.712+58T>A (n.712+58T>A)
c.756+58T>A (n.756+58T>A)
c.131+58T>A (n.131+58T>A)
c.1087+58T>A (n.1087+58T>A)
c.439+58T>A (n.439+58T>A)
 gnomAD v4
3g.38925359T>CCA2665132273SCN11Ac.712+56A>G (n.712+56A>G)
c.756+56A>G (n.756+56A>G)
c.131+56A>G (n.131+56A>G)
c.1087+56A>G (n.1087+56A>G)
c.439+56A>G (n.439+56A>G)
 gnomAD v4
3g.38925360A=CA1358731551SCN11Ac.712+55T= (n.712+55T=)
c.756+55T= (n.756+55T=)
c.131+55T= (n.131+55T=)
c.1087+55T= (n.1087+55T=)
c.439+55T= (n.439+55T=)
3g.38925360A>TCA72974177SCN11Ac.712+55T>A (n.712+55T>A)
c.756+55T>A (n.756+55T>A)
c.131+55T>A (n.131+55T>A)
c.1087+55T>A (n.1087+55T>A)
c.439+55T>A (n.439+55T>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38925365T>CCA2665132274SCN11Ac.712+50A>G (n.712+50A>G)
c.756+50A>G (n.756+50A>G)
c.131+50A>G (n.131+50A>G)
c.1087+50A>G (n.1087+50A>G)
c.439+50A>G (n.439+50A>G)
 gnomAD v4
3g.38925367A>TCA2577555151SCN11Ac.712+48T>A (n.712+48T>A)
c.756+48T>A (n.756+48T>A)
c.131+48T>A (n.131+48T>A)
c.1087+48T>A (n.1087+48T>A)
c.439+48T>A (n.439+48T>A)
 gnomAD v4
3g.38925369C>ACA2665132275SCN11Ac.712+46G>T (n.712+46G>T)
c.756+46G>T (n.756+46G>T)
c.131+46G>T (n.131+46G>T)
c.1087+46G>T (n.1087+46G>T)
c.439+46G>T (n.439+46G>T)
 gnomAD v4
3g.38925369C=CA1358731552SCN11Ac.712+46G= (n.712+46G=)
c.756+46G= (n.756+46G=)
c.131+46G= (n.131+46G=)
c.1087+46G= (n.1087+46G=)
c.439+46G= (n.439+46G=)
3g.38925369C>TCA542282181SCN11Ac.712+46G>A (n.712+46G>A)
c.756+46G>A (n.756+46G>A)
c.131+46G>A (n.131+46G>A)
c.1087+46G>A (n.1087+46G>A)
c.439+46G>A (n.439+46G>A)
 dbSNP gnomAD v2 gnomAD v4
3g.38925370A=CA1358731553SCN11Ac.712+45T= (n.712+45T=)
c.756+45T= (n.756+45T=)
c.131+45T= (n.131+45T=)
c.1087+45T= (n.1087+45T=)
c.439+45T= (n.439+45T=)
3g.38925370A>CCA2581866660SCN11Ac.712+45T>G (n.712+45T>G)
c.756+45T>G (n.756+45T>G)
c.131+45T>G (n.131+45T>G)
c.1087+45T>G (n.1087+45T>G)
c.439+45T>G (n.439+45T>G)
3g.38925370A>GCA2322540SCN11Ac.712+45T>C (n.712+45T>C)
c.756+45T>C (n.756+45T>C)
c.131+45T>C (n.131+45T>C)
c.1087+45T>C (n.1087+45T>C)
c.439+45T>C (n.439+45T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38925370A>TCA2581866661SCN11Ac.712+45T>A (n.712+45T>A)
c.756+45T>A (n.756+45T>A)
c.131+45T>A (n.131+45T>A)
c.1087+45T>A (n.1087+45T>A)
c.439+45T>A (n.439+45T>A)
 gnomAD v4
3g.38925371T>GCA2665132276SCN11Ac.712+44A>C (n.712+44A>C)
c.756+44A>C (n.756+44A>C)
c.131+44A>C (n.131+44A>C)
c.1087+44A>C (n.1087+44A>C)
c.439+44A>C (n.439+44A>C)
 gnomAD v4
3g.38925375_38925378delCA2755914422SCN11Ac.712+41_712+44del (n.712+41_712+44del)
c.756+41_756+44del (n.756+41_756+44del)
c.131+41_131+44del (n.131+41_131+44del)
c.1087+41_1087+44del (n.1087+41_1087+44del)
c.439+41_439+44del (n.439+41_439+44del)
3g.38925373C>ACA1358731555SCN11Ac.712+42G>T (n.712+42G>T)
c.756+42G>T (n.756+42G>T)
c.131+42G>T (n.131+42G>T)
c.1087+42G>T (n.1087+42G>T)
c.439+42G>T (n.439+42G>T)
 dbSNP
3g.38925373C=CA1358731554SCN11Ac.712+42G= (n.712+42G=)
c.756+42G= (n.756+42G=)
c.131+42G= (n.131+42G=)
c.1087+42G= (n.1087+42G=)
c.439+42G= (n.439+42G=)
3g.38925375_38925376delCA2665132277SCN11Ac.712+40_712+41del (n.712+40_712+41del)
c.756+40_756+41del (n.756+40_756+41del)
c.131+40_131+41del (n.131+40_131+41del)
c.1087+40_1087+41del (n.1087+40_1087+41del)
c.439+40_439+41del (n.439+40_439+41del)
 gnomAD v4
3g.38925379A>GCA2665132278SCN11Ac.712+36T>C (n.712+36T>C)
c.756+36T>C (n.756+36T>C)
c.131+36T>C (n.131+36T>C)
c.1087+36T>C (n.1087+36T>C)
c.439+36T>C (n.439+36T>C)
 gnomAD v4
3g.38925380G>ACA2665132279SCN11Ac.712+35C>T (n.712+35C>T)
c.756+35C>T (n.756+35C>T)
c.131+35C>T (n.131+35C>T)
c.1087+35C>T (n.1087+35C>T)
c.439+35C>T (n.439+35C>T)
 dbSNP gnomAD v4
3g.38925380G>CCA2755914423SCN11Ac.712+35C>G (n.712+35C>G)
c.756+35C>G (n.756+35C>G)
c.131+35C>G (n.131+35C>G)
c.1087+35C>G (n.1087+35C>G)
c.439+35C>G (n.439+35C>G)
3g.38925380G>TCA2665132280SCN11Ac.712+35C>A (n.712+35C>A)
c.756+35C>A (n.756+35C>A)
c.131+35C>A (n.131+35C>A)
c.1087+35C>A (n.1087+35C>A)
c.439+35C>A (n.439+35C>A)
 gnomAD v4
3g.38925381A>TCA2665132281SCN11Ac.712+34T>A (n.712+34T>A)
c.756+34T>A (n.756+34T>A)
c.131+34T>A (n.131+34T>A)
c.1087+34T>A (n.1087+34T>A)
c.439+34T>A (n.439+34T>A)
 gnomAD v4
3g.38925382T>CCA1047027014SCN11Ac.712+33A>G (n.712+33A>G)
c.756+33A>G (n.756+33A>G)
c.131+33A>G (n.131+33A>G)
c.1087+33A>G (n.1087+33A>G)
c.439+33A>G (n.439+33A>G)
 dbSNP gnomAD v3 gnomAD v4
3g.38925382T=CA1358731556SCN11Ac.712+33A= (n.712+33A=)
c.756+33A= (n.756+33A=)
c.131+33A= (n.131+33A=)
c.1087+33A= (n.1087+33A=)
c.439+33A= (n.439+33A=)
3g.38925383A>GCA2665132282SCN11Ac.712+32T>C (n.712+32T>C)
c.756+32T>C (n.756+32T>C)
c.131+32T>C (n.131+32T>C)
c.1087+32T>C (n.1087+32T>C)
c.439+32T>C (n.439+32T>C)
 gnomAD v4
3g.38925385G>ACA1358731558SCN11Ac.712+30C>T (n.712+30C>T)
c.756+30C>T (n.756+30C>T)
c.131+30C>T (n.131+30C>T)
c.1087+30C>T (n.1087+30C>T)
c.439+30C>T (n.439+30C>T)
 dbSNP gnomAD v4
3g.38925385G=CA1358731557SCN11Ac.712+30C= (n.712+30C=)
c.756+30C= (n.756+30C=)
c.131+30C= (n.131+30C=)
c.1087+30C= (n.1087+30C=)
c.439+30C= (n.439+30C=)
3g.38925385G>TCA542282182SCN11Ac.712+30C>A (n.712+30C>A)
c.756+30C>A (n.756+30C>A)
c.131+30C>A (n.131+30C>A)
c.1087+30C>A (n.1087+30C>A)
c.439+30C>A (n.439+30C>A)
 dbSNP gnomAD v2 gnomAD v4
3g.38925386A>GCA2665132283SCN11Ac.712+29T>C (n.712+29T>C)
c.756+29T>C (n.756+29T>C)
c.131+29T>C (n.131+29T>C)
c.1087+29T>C (n.1087+29T>C)
c.439+29T>C (n.439+29T>C)
 gnomAD v4
3g.38925387G>CCA2665132284SCN11Ac.712+28C>G (n.712+28C>G)
c.756+28C>G (n.756+28C>G)
c.131+28C>G (n.131+28C>G)
c.1087+28C>G (n.1087+28C>G)
c.439+28C>G (n.439+28C>G)
 gnomAD v4
3g.38925387G>TCA2577555152SCN11Ac.712+28C>A (n.712+28C>A)
c.756+28C>A (n.756+28C>A)
c.131+28C>A (n.131+28C>A)
c.1087+28C>A (n.1087+28C>A)
c.439+28C>A (n.439+28C>A)
 gnomAD v4
3g.38925388C>ACA2702240291SCN11Ac.712+27G>T (n.712+27G>T)
c.756+27G>T (n.756+27G>T)
c.131+27G>T (n.131+27G>T)
c.1087+27G>T (n.1087+27G>T)
c.439+27G>T (n.439+27G>T)
 dbSNP
3g.38925388C=CA1358731559SCN11Ac.712+27G= (n.712+27G=)
c.756+27G= (n.756+27G=)
c.131+27G= (n.131+27G=)
c.1087+27G= (n.1087+27G=)
c.439+27G= (n.439+27G=)
3g.38925388C>TCA2322541SCN11Ac.712+27G>A (n.712+27G>A)
c.756+27G>A (n.756+27G>A)
c.131+27G>A (n.131+27G>A)
c.1087+27G>A (n.1087+27G>A)
c.439+27G>A (n.439+27G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38925389C>TCA2665132285SCN11Ac.712+26G>A (n.712+26G>A)
c.756+26G>A (n.756+26G>A)
c.131+26G>A (n.131+26G>A)
c.1087+26G>A (n.1087+26G>A)
c.439+26G>A (n.439+26G>A)
 gnomAD v4
3g.38925391G>CCA542282183SCN11Ac.712+24C>G (n.712+24C>G)
c.756+24C>G (n.756+24C>G)
c.131+24C>G (n.131+24C>G)
c.1087+24C>G (n.1087+24C>G)
c.439+24C>G (n.439+24C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38925391G=CA1358731560SCN11Ac.712+24C= (n.712+24C=)
c.756+24C= (n.756+24C=)
c.131+24C= (n.131+24C=)
c.1087+24C= (n.1087+24C=)
c.439+24C= (n.439+24C=)
3g.38925391G>TCA2665132286SCN11Ac.712+24C>A (n.712+24C>A)
c.756+24C>A (n.756+24C>A)
c.131+24C>A (n.131+24C>A)
c.1087+24C>A (n.1087+24C>A)
c.439+24C>A (n.439+24C>A)
 gnomAD v4
3g.38925393G>TCA2665132287SCN11Ac.712+22C>A (n.712+22C>A)
c.756+22C>A (n.756+22C>A)
c.131+22C>A (n.131+22C>A)
c.1087+22C>A (n.1087+22C>A)
c.439+22C>A (n.439+22C>A)
 gnomAD v4
3g.38925394T>CCA1047027021SCN11Ac.712+21A>G (n.712+21A>G)
c.756+21A>G (n.756+21A>G)
c.131+21A>G (n.131+21A>G)
c.1087+21A>G (n.1087+21A>G)
c.439+21A>G (n.439+21A>G)
 dbSNP gnomAD v3 gnomAD v4
3g.38925394T=CA1358731561SCN11Ac.712+21A= (n.712+21A=)
c.756+21A= (n.756+21A=)
c.131+21A= (n.131+21A=)
c.1087+21A= (n.1087+21A=)
c.439+21A= (n.439+21A=)
3g.38925395G>ACA542282184SCN11Ac.712+20C>T (n.712+20C>T)
c.756+20C>T (n.756+20C>T)
c.131+20C>T (n.131+20C>T)
c.1087+20C>T (n.1087+20C>T)
c.439+20C>T (n.439+20C>T)
 dbSNP gnomAD v2 gnomAD v4
3g.38925395G=CA1358731562SCN11Ac.712+20C= (n.712+20C=)
c.756+20C= (n.756+20C=)
c.131+20C= (n.131+20C=)
c.1087+20C= (n.1087+20C=)
c.439+20C= (n.439+20C=)
3g.38925395G>TCA2665132288SCN11Ac.712+20C>A (n.712+20C>A)
c.756+20C>A (n.756+20C>A)
c.131+20C>A (n.131+20C>A)
c.1087+20C>A (n.1087+20C>A)
c.439+20C>A (n.439+20C>A)
 gnomAD v4
3g.38925396G>TCA2665132289SCN11Ac.712+19C>A (n.712+19C>A)
c.756+19C>A (n.756+19C>A)
c.131+19C>A (n.131+19C>A)
c.1087+19C>A (n.1087+19C>A)
c.439+19C>A (n.439+19C>A)
 gnomAD v4
3g.38925397A=CA1358731563SCN11Ac.712+18T= (n.712+18T=)
c.756+18T= (n.756+18T=)
c.131+18T= (n.131+18T=)
c.1087+18T= (n.1087+18T=)
c.439+18T= (n.439+18T=)
3g.38925397A>GCA542282185SCN11Ac.712+18T>C (n.712+18T>C)
c.756+18T>C (n.756+18T>C)
c.131+18T>C (n.131+18T>C)
c.1087+18T>C (n.1087+18T>C)
c.439+18T>C (n.439+18T>C)
 dbSNP gnomAD v2 gnomAD v4
3g.38925398A>GCA2665132290SCN11Ac.712+17T>C (n.712+17T>C)
c.756+17T>C (n.756+17T>C)
c.131+17T>C (n.131+17T>C)
c.1087+17T>C (n.1087+17T>C)
c.439+17T>C (n.439+17T>C)
 gnomAD v4
3g.38925399A>GCA2665132291SCN11Ac.712+16T>C (n.712+16T>C)
c.756+16T>C (n.756+16T>C)
c.131+16T>C (n.131+16T>C)
c.1087+16T>C (n.1087+16T>C)
c.439+16T>C (n.439+16T>C)
 gnomAD v4
3g.38925400G>ACA2665132292SCN11Ac.712+15C>T (n.712+15C>T)
c.756+15C>T (n.756+15C>T)
c.131+15C>T (n.131+15C>T)
c.1087+15C>T (n.1087+15C>T)
c.439+15C>T (n.439+15C>T)
 gnomAD v4
3g.38925400G>TCA2577555153SCN11Ac.712+15C>A (n.712+15C>A)
c.756+15C>A (n.756+15C>A)
c.131+15C>A (n.131+15C>A)
c.1087+15C>A (n.1087+15C>A)
c.439+15C>A (n.439+15C>A)
 gnomAD v4
3g.38925401_38925403delinsTGACA1358731564SCN11Ac.712+12_712+14delinsTCA (n.712+12_712+14delinsTCA)
c.756+12_756+14delinsTCA (n.756+12_756+14delinsTCA)
c.131+12_131+14delinsTCA (n.131+12_131+14delinsTCA)
c.1087+12_1087+14delinsTCA (n.1087+12_1087+14delinsTCA)
c.439+12_439+14delinsTCA (n.439+12_439+14delinsTCA)
3g.38925402G>ACA72974195SCN11Ac.712+13C>T (n.712+13C>T)
c.756+13C>T (n.756+13C>T)
c.131+13C>T (n.131+13C>T)
c.1087+13C>T (n.1087+13C>T)
c.439+13C>T (n.439+13C>T)
 ClinVar dbSNP
3g.38925402G>CCA2322542SCN11Ac.712+13C>G (n.712+13C>G)
c.756+13C>G (n.756+13C>G)
c.131+13C>G (n.131+13C>G)
c.1087+13C>G (n.1087+13C>G)
c.439+13C>G (n.439+13C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38925402G=CA1358731566SCN11Ac.712+13C= (n.712+13C=)
c.756+13C= (n.756+13C=)
c.131+13C= (n.131+13C=)
c.1087+13C= (n.1087+13C=)
c.439+13C= (n.439+13C=)
3g.38925402G>TCA2665132293SCN11Ac.712+13C>A (n.712+13C>A)
c.756+13C>A (n.756+13C>A)
c.131+13C>A (n.131+13C>A)
c.1087+13C>A (n.1087+13C>A)
c.439+13C>A (n.439+13C>A)
 gnomAD v4
3g.38925405_38925406delCA1358731565SCN11Ac.712+12_712+13del (n.712+12_712+13del)
c.756+12_756+13del (n.756+12_756+13del)
c.131+12_131+13del (n.131+12_131+13del)
c.1087+12_1087+13del (n.1087+12_1087+13del)
c.439+12_439+13del (n.439+12_439+13del)
 dbSNP gnomAD v4
3g.38925403A>GCA2665132294SCN11Ac.712+12T>C (n.712+12T>C)
c.756+12T>C (n.756+12T>C)
c.131+12T>C (n.131+12T>C)
c.1087+12T>C (n.1087+12T>C)
c.439+12T>C (n.439+12T>C)
 dbSNP gnomAD v4
3g.38925404G>ACA542282186SCN11Ac.712+11C>T (n.712+11C>T)
c.756+11C>T (n.756+11C>T)
c.131+11C>T (n.131+11C>T)
c.1087+11C>T (n.1087+11C>T)
c.439+11C>T (n.439+11C>T)
 dbSNP gnomAD v2 gnomAD v4
3g.38925404G>CCA2322543SCN11Ac.712+11C>G (n.712+11C>G)
c.756+11C>G (n.756+11C>G)
c.131+11C>G (n.131+11C>G)
c.1087+11C>G (n.1087+11C>G)
c.439+11C>G (n.439+11C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38925404G=CA1358731567SCN11Ac.712+11C= (n.712+11C=)
c.756+11C= (n.756+11C=)
c.131+11C= (n.131+11C=)
c.1087+11C= (n.1087+11C=)
c.439+11C= (n.439+11C=)
3g.38925404G>TCA2665132295SCN11Ac.712+11C>A (n.712+11C>A)
c.756+11C>A (n.756+11C>A)
c.131+11C>A (n.131+11C>A)
c.1087+11C>A (n.1087+11C>A)
c.439+11C>A (n.439+11C>A)
 gnomAD v4
3g.38925405A=CA1358731568SCN11Ac.712+10T= (n.712+10T=)
c.756+10T= (n.756+10T=)
c.131+10T= (n.131+10T=)
c.1087+10T= (n.1087+10T=)
c.439+10T= (n.439+10T=)
3g.38925405A>CCA542282187SCN11Ac.712+10T>G (n.712+10T>G)
c.756+10T>G (n.756+10T>G)
c.131+10T>G (n.131+10T>G)
c.1087+10T>G (n.1087+10T>G)
c.439+10T>G (n.439+10T>G)
 dbSNP gnomAD v2 gnomAD v4
3g.38925405A>GCA2665132296SCN11Ac.712+10T>C (n.712+10T>C)
c.756+10T>C (n.756+10T>C)
c.131+10T>C (n.131+10T>C)
c.1087+10T>C (n.1087+10T>C)
c.439+10T>C (n.439+10T>C)
 gnomAD v4
3g.38925405A>TCA2577555154SCN11Ac.712+10T>A (n.712+10T>A)
c.756+10T>A (n.756+10T>A)
c.131+10T>A (n.131+10T>A)
c.1087+10T>A (n.1087+10T>A)
c.439+10T>A (n.439+10T>A)
 gnomAD v4
3g.38925406G>ACA906865537SCN11Ac.712+9C>T (n.712+9C>T)
c.756+9C>T (n.756+9C>T)
c.131+9C>T (n.131+9C>T)
c.1087+9C>T (n.1087+9C>T)
c.439+9C>T (n.439+9C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38925406G=CA1358731569SCN11Ac.712+9C= (n.712+9C=)
c.756+9C= (n.756+9C=)
c.131+9C= (n.131+9C=)
c.1087+9C= (n.1087+9C=)
c.439+9C= (n.439+9C=)
3g.38925406G>TCA2665132297SCN11Ac.712+9C>A (n.712+9C>A)
c.756+9C>A (n.756+9C>A)
c.131+9C>A (n.131+9C>A)
c.1087+9C>A (n.1087+9C>A)
c.439+9C>A (n.439+9C>A)
 gnomAD v4
3g.38925407T>ACA2665132298SCN11Ac.712+8A>T (n.712+8A>T)
c.756+8A>T (n.756+8A>T)
c.131+8A>T (n.131+8A>T)
c.1087+8A>T (n.1087+8A>T)
c.439+8A>T (n.439+8A>T)
 gnomAD v4
3g.38925408G>TCA2665132299SCN11Ac.712+7C>A (n.712+7C>A)
c.756+7C>A (n.756+7C>A)
c.131+7C>A (n.131+7C>A)
c.1087+7C>A (n.1087+7C>A)
c.439+7C>A (n.439+7C>A)
 gnomAD v4
3g.38925409A>GCA2665132300SCN11Ac.712+6T>C (n.712+6T>C)
c.756+6T>C (n.756+6T>C)
c.131+6T>C (n.131+6T>C)
c.1087+6T>C (n.1087+6T>C)
c.439+6T>C (n.439+6T>C)
 dbSNP gnomAD v4
3g.38925409A>TCA2665132301SCN11Ac.712+6T>A (n.712+6T>A)
c.756+6T>A (n.756+6T>A)
c.131+6T>A (n.131+6T>A)
c.1087+6T>A (n.1087+6T>A)
c.439+6T>A (n.439+6T>A)
 gnomAD v4
3g.38925413_38925435dupCA2665132302SCN11Ac.695_712+5dup
c.739_756+5dup
c.114_131+5dup
c.1070_1087+5dup
c.422_439+5dup
 gnomAD v4
3g.38925413A>CCA352173038SCN11Ac.712+2T>G (n.712+2T>G)
c.756+2T>G (n.756+2T>G)
c.131+2T>G (n.131+2T>G)
c.1087+2T>G (n.1087+2T>G)
c.439+2T>G (n.439+2T>G)
3g.38925413A>GCA352173033SCN11Ac.712+2T>C (n.712+2T>C)
c.756+2T>C (n.756+2T>C)
c.131+2T>C (n.131+2T>C)
c.1087+2T>C (n.1087+2T>C)
c.439+2T>C (n.439+2T>C)
3g.38925413A>TCA352173036SCN11Ac.712+2T>A (n.712+2T>A)
c.756+2T>A (n.756+2T>A)
c.131+2T>A (n.131+2T>A)
c.1087+2T>A (n.1087+2T>A)
c.439+2T>A (n.439+2T>A)
 gnomAD v4
3g.38925414C>ACA2322544SCN11Ac.712+1G>T (n.712+1G>T)
c.756+1G>T (n.756+1G>T)
c.131+1G>T (n.131+1G>T)
c.1087+1G>T (n.1087+1G>T)
c.439+1G>T (n.439+1G>T)
 dbSNP ExAC
3g.38925414C=CA1358731570SCN11Ac.712+1G= (n.712+1G=)
c.756+1G= (n.756+1G=)
c.131+1G= (n.131+1G=)
c.1087+1G= (n.1087+1G=)
c.439+1G= (n.439+1G=)
3g.38925414C>GCA352173043SCN11Ac.712+1G>C (n.712+1G>C)
c.756+1G>C (n.756+1G>C)
c.131+1G>C (n.131+1G>C)
c.1087+1G>C (n.1087+1G>C)
c.439+1G>C (n.439+1G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38925414C>TCA72974215SCN11Ac.712+1G>A (n.712+1G>A)
c.756+1G>A (n.756+1G>A)
c.131+1G>A (n.131+1G>A)
c.1087+1G>A (n.1087+1G>A)
c.439+1G>A (n.439+1G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38925414_38925415delinsCGCA1358731571SCN11Ac.712_712+1delinsCG
c.756_756+1delinsCG
c.131_131+1delinsCG
c.1087_1087+1delinsCG
c.439_439+1delinsCG
3g.38925415delCA1358731572SCN11Ac.712del (p.Arg238ValfsTer2)
c.712del (p.His238ThrfsTer?)
c.756del (n.756del)
c.131del (p.Ile45SerfsTer5)
c.1087del (p.Arg363ValfsTer2)
c.439del (p.Arg147ValfsTer2)
 dbSNP
3g.38925415G>ACA2322545SCN11Ac.712C>T (p.Arg238Cys)
c.712C>T (p.His238Tyr)
c.756C>T (n.756C>T)
c.131C>T (p.Thr44Ile)
c.1087C>T (p.Arg363Cys)
c.439C>T (p.Arg147Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38925415G>CCA352173051SCN11Ac.712C>G (p.Arg238Gly)
c.712C>G (p.His238Asp)
c.756C>G (n.756C>G)
c.131C>G (p.Thr44Ser)
c.1087C>G (p.Arg363Gly)
c.439C>G (p.Arg147Gly)
3g.38925415G=CA1358731573SCN11Ac.712C= (p.Arg238=)
c.712C= (p.His238=)
c.756C= (n.756C=)
c.131C= (p.Thr44=)
c.1087C= (p.Arg363=)
c.439C= (p.Arg147=)
3g.38925415G>TCA2322546SCN11Ac.712C>A (p.Arg238Ser)
c.712C>A (p.His238Asn)
c.756C>A (n.756C>A)
c.131C>A (p.Thr44Asn)
c.1087C>A (p.Arg363Ser)
c.439C>A (p.Arg147Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38925416T>ACA433142231SCN11Ac.711A>T (p.Ser237=)
c.755A>T (n.755A>T)
c.130A>T (p.Thr44Ser)
c.1086A>T (p.Ser362=)
c.438A>T (p.Ser146=)
3g.38925416T>CCA433142232SCN11Ac.711A>G (p.Ser237=)
c.755A>G (n.755A>G)
c.130A>G (p.Thr44Ala)
c.1086A>G (p.Ser362=)
c.438A>G (p.Ser146=)
3g.38925416T>GCA433142233SCN11Ac.711A>C (p.Ser237=)
c.755A>C (n.755A>C)
c.130A>C (p.Thr44Pro)
c.1086A>C (p.Ser362=)
c.438A>C (p.Ser146=)
 gnomAD v4
3g.38925417G>ACA352173056SCN11Ac.710C>T (p.Ser237Leu)
c.754C>T (n.754C>T)
c.129C>T (p.Phe43=)
c.1085C>T (p.Ser362Leu)
c.437C>T (p.Ser146Leu)
3g.38925417G>CCA352173059SCN11Ac.710C>G (p.Ser237Ter)
c.754C>G (n.754C>G)
c.129C>G (p.Phe43Leu)
c.1085C>G (p.Ser362Ter)
c.437C>G (p.Ser146Ter)
3g.38925417G>TCA352173061SCN11Ac.710C>A (p.Ser237Ter)
c.754C>A (n.754C>A)
c.129C>A (p.Phe43Leu)
c.1085C>A (p.Ser362Ter)
c.437C>A (p.Ser146Ter)
3g.38925418A>CCA352173066SCN11Ac.709T>G (p.Ser237Ala)
c.753T>G (n.753T>G)
c.128T>G (p.Phe43Cys)
c.1084T>G (p.Ser362Ala)
c.436T>G (p.Ser146Ala)
3g.38925418A>GCA352173068SCN11Ac.709T>C (p.Ser237Pro)
c.753T>C (n.753T>C)
c.128T>C (p.Phe43Ser)
c.1084T>C (p.Ser362Pro)
c.436T>C (p.Ser146Pro)
3g.38925418A>TCA352173071SCN11Ac.709T>A (p.Ser237Thr)
c.753T>A (n.753T>A)
c.128T>A (p.Phe43Tyr)
c.1084T>A (p.Ser362Thr)
c.436T>A (p.Ser146Thr)
3g.38925419A>CCA433142236SCN11Ac.708T>G (p.Val236=)
c.752T>G (n.752T>G)
c.127T>G (p.Phe43Val)
c.1083T>G (p.Val361=)
c.435T>G (p.Val145=)
3g.38925419A>GCA433142235SCN11Ac.708T>C (p.Val236=)
c.752T>C (n.752T>C)
c.127T>C (p.Phe43Leu)
c.1083T>C (p.Val361=)
c.435T>C (p.Val145=)
3g.38925419A>TCA433142234SCN11Ac.708T>A (p.Val236=)
c.752T>A (n.752T>A)
c.127T>A (p.Phe43Ile)
c.1083T>A (p.Val361=)
c.435T>A (p.Val145=)
3g.38925420A>CCA352173075SCN11Ac.707T>G (p.Val236Gly)
c.751T>G (n.751T>G)
c.126T>G (p.Ser42Arg)
c.1082T>G (p.Val361Gly)
c.434T>G (p.Val145Gly)
3g.38925420A>GCA352173078SCN11Ac.707T>C (p.Val236Ala)
c.751T>C (n.751T>C)
c.126T>C (p.Ser42=)
c.1082T>C (p.Val361Ala)
c.434T>C (p.Val145Ala)
3g.38925420A>TCA352173076SCN11Ac.707T>A (p.Val236Asp)
c.751T>A (n.751T>A)
c.126T>A (p.Ser42Arg)
c.1082T>A (p.Val361Asp)
c.434T>A (p.Val145Asp)
3g.38925421C>ACA352173082SCN11Ac.706G>T (p.Val236Phe)
c.750G>T (n.750G>T)
c.125G>T (p.Ser42Ile)
c.1081G>T (p.Val361Phe)
c.433G>T (p.Val145Phe)
3g.38925421C=CA1358731574SCN11Ac.706G= (p.Val236=)
c.750G= (n.750G=)
c.125G= (p.Ser42=)
c.1081G= (p.Val361=)
c.433G= (p.Val145=)
3g.38925421C>GCA352173087SCN11Ac.706G>C (p.Val236Leu)
c.750G>C (n.750G>C)
c.125G>C (p.Ser42Thr)
c.1081G>C (p.Val361Leu)
c.433G>C (p.Val145Leu)
3g.38925421C>TCA352173085SCN11Ac.706G>A (p.Val236Ile)
c.750G>A (n.750G>A)
c.125G>A (p.Ser42Asn)
c.1081G>A (p.Val361Ile)
c.433G>A (p.Val145Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38925422T>ACA433142237SCN11Ac.705A>T (p.Val235=)
c.749A>T (n.749A>T)
c.124A>T (p.Ser42Cys)
c.1080A>T (p.Val360=)
c.432A>T (p.Val144=)
3g.38925422T>CCA433142238SCN11Ac.705A>G (p.Val235=)
c.749A>G (n.749A>G)
c.124A>G (p.Ser42Gly)
c.1080A>G (p.Val360=)
c.432A>G (p.Val144=)
 ClinVar gnomAD v4
3g.38925422T>GCA433142239SCN11Ac.705A>C (p.Val235=)
c.749A>C (n.749A>C)
c.124A>C (p.Ser42Arg)
c.1080A>C (p.Val360=)
c.432A>C (p.Val144=)
3g.38925423A>CCA352173090SCN11Ac.704T>G (p.Val235Gly)
c.748T>G (n.748T>G)
c.123T>G (p.Ser41Arg)
c.1079T>G (p.Val360Gly)
c.431T>G (p.Val144Gly)
3g.38925423A>GCA352173092SCN11Ac.704T>C (p.Val235Ala)
c.748T>C (n.748T>C)
c.123T>C (p.Ser41=)
c.1079T>C (p.Val360Ala)
c.431T>C (p.Val144Ala)
3g.38925423A>TCA352173094SCN11Ac.704T>A (p.Val235Glu)
c.748T>A (n.748T>A)
c.123T>A (p.Ser41Arg)
c.1079T>A (p.Val360Glu)
c.431T>A (p.Val144Glu)
3g.38925424C>ACA2322547SCN11Ac.703G>T (p.Val235Leu)
c.747G>T (n.747G>T)
c.122G>T (p.Ser41Ile)
c.1078G>T (p.Val360Leu)
c.430G>T (p.Val144Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38925424C=CA1358731575SCN11Ac.703G= (p.Val235=)
c.747G= (n.747G=)
c.122G= (p.Ser41=)
c.1078G= (p.Val360=)
c.430G= (p.Val144=)
3g.38925424C>GCA352173098SCN11Ac.703G>C (p.Val235Leu)
c.747G>C (n.747G>C)
c.122G>C (p.Ser41Thr)
c.1078G>C (p.Val360Leu)
c.430G>C (p.Val144Leu)
3g.38925424C>TCA72974239SCN11Ac.703G>A (p.Val235Ile)
c.747G>A (n.747G>A)
c.122G>A (p.Ser41Asn)
c.1078G>A (p.Val360Ile)
c.430G>A (p.Val144Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38925425T>ACA433142240SCN11Ac.702A>T (p.Ser234=)
c.746A>T (n.746A>T)
c.121A>T (p.Ser41Cys)
c.1077A>T (p.Ser359=)
c.429A>T (p.Ser143=)
3g.38925425T>CCA2322548SCN11Ac.702A>G (p.Ser234=)
c.746A>G (n.746A>G)
c.121A>G (p.Ser41Gly)
c.1077A>G (p.Ser359=)
c.429A>G (p.Ser143=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38925425T>GCA433142241SCN11Ac.702A>C (p.Ser234=)
c.746A>C (n.746A>C)
c.121A>C (p.Ser41Arg)
c.1077A>C (p.Ser359=)
c.429A>C (p.Ser143=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38925425T=CA1358731576SCN11Ac.702A= (p.Ser234=)
c.746A= (n.746A=)
c.121A= (p.Ser41=)
c.1077A= (p.Ser359=)
c.429A= (p.Ser143=)
3g.38925426G>ACA352173104SCN11Ac.701C>T (p.Ser234Leu)
c.745C>T (n.745C>T)
c.120C>T (p.Phe40=)
c.1076C>T (p.Ser359Leu)
c.428C>T (p.Ser143Leu)
 gnomAD v4 COSMIC
3g.38925426G>CCA352173106SCN11Ac.701C>G (p.Ser234Ter)
c.745C>G (n.745C>G)
c.120C>G (p.Phe40Leu)
c.1076C>G (p.Ser359Ter)
c.428C>G (p.Ser143Ter)
3g.38925426G>TCA352173109SCN11Ac.701C>A (p.Ser234Ter)
c.745C>A (n.745C>A)
c.120C>A (p.Phe40Leu)
c.1076C>A (p.Ser359Ter)
c.428C>A (p.Ser143Ter)
 gnomAD v4 COSMIC
3g.38925427A>CCA352173114SCN11Ac.700T>G (p.Ser234Ala)
c.744T>G (n.744T>G)
c.119T>G (p.Phe40Cys)
c.1075T>G (p.Ser359Ala)
c.427T>G (p.Ser143Ala)
3g.38925427A>GCA352173116SCN11Ac.700T>C (p.Ser234Pro)
c.744T>C (n.744T>C)
c.119T>C (p.Phe40Ser)
c.1075T>C (p.Ser359Pro)
c.427T>C (p.Ser143Pro)
3g.38925427A>TCA352173117SCN11Ac.700T>A (p.Ser234Thr)
c.744T>A (n.744T>A)
c.119T>A (p.Phe40Tyr)
c.1075T>A (p.Ser359Thr)
c.427T>A (p.Ser143Thr)
3g.38925428A>CCA352173123SCN11Ac.699T>G (p.Ile233Met)
c.743T>G (n.743T>G)
c.118T>G (p.Phe40Val)
c.1074T>G (p.Ile358Met)
c.426T>G (p.Ile142Met)
3g.38925428A>GCA433142242SCN11Ac.699T>C (p.Ile233=)
c.743T>C (n.743T>C)
c.118T>C (p.Phe40Leu)
c.1074T>C (p.Ile358=)
c.426T>C (p.Ile142=)
3g.38925428A>TCA433142243SCN11Ac.699T>A (p.Ile233=)
c.743T>A (n.743T>A)
c.118T>A (p.Phe40Ile)
c.1074T>A (p.Ile358=)
c.426T>A (p.Ile142=)
3g.38925429A>CCA352173126SCN11Ac.698T>G (p.Ile233Ser)
c.742T>G (n.742T>G)
c.117T>G (p.Asn39Lys)
c.1073T>G (p.Ile358Ser)
c.425T>G (p.Ile142Ser)
3g.38925429A>GCA352173128SCN11Ac.698T>C (p.Ile233Thr)
c.742T>C (n.742T>C)
c.117T>C (p.Asn39=)
c.1073T>C (p.Ile358Thr)
c.425T>C (p.Ile142Thr)
 gnomAD v4
3g.38925429A>TCA352173131SCN11Ac.698T>A (p.Ile233Asn)
c.742T>A (n.742T>A)
c.117T>A (p.Asn39Lys)
c.1073T>A (p.Ile358Asn)
c.425T>A (p.Ile142Asn)
3g.38925429_38925433delinsATTGCCA1358731577SCN11Ac.694_698delinsGCAAT (p.Ala232=)
c.738_742delinsGCAAT (n.738_742delinsGCAAT)
c.113_117delinsGCAAT (p.Ser38=)
c.1069_1073delinsGCAAT (p.Ala357=)
c.421_425delinsGCAAT (p.Ala141=)
3g.38925430T>ACA352173134SCN11Ac.697A>T (p.Ile233Phe)
c.741A>T (n.741A>T)
c.116A>T (p.Asn39Ile)
c.1072A>T (p.Ile358Phe)
c.424A>T (p.Ile142Phe)
3g.38925430T>CCA352173136SCN11Ac.697A>G (p.Ile233Val)
c.741A>G (n.741A>G)
c.116A>G (p.Asn39Ser)
c.1072A>G (p.Ile358Val)
c.424A>G (p.Ile142Val)
3g.38925430T>GCA352173138SCN11Ac.697A>C (p.Ile233Leu)
c.741A>C (n.741A>C)
c.116A>C (p.Asn39Thr)
c.1072A>C (p.Ile358Leu)
c.424A>C (p.Ile142Leu)
3g.38925432_38925435delCA433142244SCN11Ac.694_697del (p.Ala232PhefsTer3)
c.738_741del (n.738_741del)
c.113_116del (p.Ser38IlefsTer11)
c.1069_1072del (p.Ala357PhefsTer3)
c.421_424del (p.Ala141PhefsTer3)
 dbSNP gnomAD v3 gnomAD v4
3g.38925432_38925436delCA2665132303SCN11Ac.693_697del (p.Lys231AsnfsTer?)
c.693_697del (p.Lys231AsnfsTer10)
c.737_741del (n.737_741del)
c.112_116del (p.Ser38PhefsTer3)
c.1068_1072del (p.Lys356AsnfsTer?)
c.420_424del (p.Lys140AsnfsTer?)
 gnomAD v4
3g.38925431T>ACA433142245SCN11Ac.696A>T (p.Ala232=)
c.740A>T (n.740A>T)
c.115A>T (p.Asn39Tyr)
c.1071A>T (p.Ala357=)
c.423A>T (p.Ala141=)
3g.38925431T>CCA433142246SCN11Ac.696A>G (p.Ala232=)
c.740A>G (n.740A>G)
c.115A>G (p.Asn39Asp)
c.1071A>G (p.Ala357=)
c.423A>G (p.Ala141=)
3g.38925431T>GCA433142247SCN11Ac.696A>C (p.Ala232=)
c.740A>C (n.740A>C)
c.115A>C (p.Asn39His)
c.1071A>C (p.Ala357=)
c.423A>C (p.Ala141=)
3g.38925432delCA2577555155SCN11Ac.695del (p.Ala232GlufsTer4)
c.739del (n.739del)
c.114del (p.Ser38ArgfsTer12)
c.1070del (p.Ala357GlufsTer4)
c.422del (p.Ala141GlufsTer4)
3g.38925432G>ACA352173141SCN11Ac.695C>T (p.Ala232Val)
c.739C>T (n.739C>T)
c.114C>T (p.Ser38=)
c.1070C>T (p.Ala357Val)
c.422C>T (p.Ala141Val)
 ClinVar dbSNP
3g.38925432G>CCA352173142SCN11Ac.695C>G (p.Ala232Gly)
c.739C>G (n.739C>G)
c.114C>G (p.Ser38Arg)
c.1070C>G (p.Ala357Gly)
c.422C>G (p.Ala141Gly)
3g.38925432G=CA1358731578SCN11Ac.695C= (p.Ala232=)
c.739C= (n.739C=)
c.114C= (p.Ser38=)
c.1070C= (p.Ala357=)
c.422C= (p.Ala141=)
3g.38925432G>TCA352173144SCN11Ac.695C>A (p.Ala232Glu)
c.739C>A (n.739C>A)
c.114C>A (p.Ser38Arg)
c.1070C>A (p.Ala357Glu)
c.422C>A (p.Ala141Glu)
3g.38925432dupCA2665132304SCN11Ac.695dup (p.Ile233AsnfsTer?)
c.695dup (p.Ile233AsnfsTer10)
c.739dup (n.739dup)
c.114dup (p.Asn39GlnfsTer4)
c.1070dup (p.Ile358AsnfsTer?)
c.422dup (p.Ile142AsnfsTer?)
 gnomAD v4
3g.38925433C>ACA352173148SCN11Ac.694G>T (p.Ala232Ser)
c.738G>T (n.738G>T)
c.113G>T (p.Ser38Ile)
c.1069G>T (p.Ala357Ser)
c.421G>T (p.Ala141Ser)
3g.38925433C>GCA352173150SCN11Ac.694G>C (p.Ala232Pro)
c.738G>C (n.738G>C)
c.113G>C (p.Ser38Thr)
c.1069G>C (p.Ala357Pro)
c.421G>C (p.Ala141Pro)
3g.38925433C>TCA352173152SCN11Ac.694G>A (p.Ala232Thr)
c.738G>A (n.738G>A)
c.113G>A (p.Ser38Asn)
c.1069G>A (p.Ala357Thr)
c.421G>A (p.Ala141Thr)
 gnomAD v4
3g.38925434T>ACA352173155SCN11Ac.693A>T (p.Lys231Asn)
c.737A>T (n.737A>T)
c.112A>T (p.Ser38Cys)
c.1068A>T (p.Lys356Asn)
c.420A>T (p.Lys140Asn)
 dbSNP gnomAD v2 gnomAD v4
3g.38925434T>CCA433142248SCN11Ac.693A>G (p.Lys231=)
c.737A>G (n.737A>G)
c.112A>G (p.Ser38Gly)
c.1068A>G (p.Lys356=)
c.420A>G (p.Lys140=)
3g.38925434T>GCA352173157SCN11Ac.693A>C (p.Lys231Asn)
c.737A>C (n.737A>C)
c.112A>C (p.Ser38Arg)
c.1068A>C (p.Lys356Asn)
c.420A>C (p.Lys140Asn)
3g.38925434T=CA1358731579SCN11Ac.693A= (p.Lys231=)
c.737A= (n.737A=)
c.112A= (p.Ser38=)
c.1068A= (p.Lys356=)
c.420A= (p.Lys140=)
3g.38925435T>ACA352173160SCN11Ac.692A>T (p.Lys231Ile)
c.736A>T (n.736A>T)
c.111A>T (p.Glu37Asp)
c.1067A>T (p.Lys356Ile)
c.419A>T (p.Lys140Ile)
3g.38925435T>CCA352173162SCN11Ac.692A>G (p.Lys231Arg)
c.736A>G (n.736A>G)
c.111A>G (p.Glu37=)
c.1067A>G (p.Lys356Arg)
c.419A>G (p.Lys140Arg)
3g.38925435T>GCA352173165SCN11Ac.692A>C (p.Lys231Thr)
c.736A>C (n.736A>C)
c.111A>C (p.Glu37Asp)
c.1067A>C (p.Lys356Thr)
c.419A>C (p.Lys140Thr)
3g.38925436T>ACA352173168SCN11Ac.691A>T (p.Lys231Ter)
c.735A>T (n.735A>T)
c.110A>T (p.Glu37Val)
c.1066A>T (p.Lys356Ter)
c.418A>T (p.Lys140Ter)
 dbSNP
3g.38925436T>CCA352173170SCN11Ac.691A>G (p.Lys231Glu)
c.735A>G (n.735A>G)
c.110A>G (p.Glu37Gly)
c.1066A>G (p.Lys356Glu)
c.418A>G (p.Lys140Glu)
3g.38925436T>GCA352173172SCN11Ac.691A>C (p.Lys231Gln)
c.735A>C (n.735A>C)
c.110A>C (p.Glu37Ala)
c.1066A>C (p.Lys356Gln)
c.418A>C (p.Lys140Gln)
3g.38925436T=CA1358731580SCN11Ac.691A= (p.Lys231=)
c.735A= (n.735A=)
c.110A= (p.Glu37=)
c.1066A= (p.Lys356=)
c.418A= (p.Lys140=)
3g.38925437C>ACA352173176SCN11Ac.690G>T (p.Leu230Phe)
c.734G>T (n.734G>T)
c.109G>T (p.Glu37Ter)
c.1065G>T (p.Leu355Phe)
c.417G>T (p.Leu139Phe)
3g.38925437C>GCA352173178SCN11Ac.690G>C (p.Leu230Phe)
c.734G>C (n.734G>C)
c.109G>C (p.Glu37Gln)
c.1065G>C (p.Leu355Phe)
c.417G>C (p.Leu139Phe)
3g.38925437C>TCA433142250SCN11Ac.690G>A (p.Leu230=)
c.734G>A (n.734G>A)
c.109G>A (p.Glu37Lys)
c.1065G>A (p.Leu355=)
c.417G>A (p.Leu139=)
 dbSNP gnomAD v4
3g.38925438A=CA1358731581SCN11Ac.689T= (p.Leu230=)
c.733T= (n.733T=)
c.108T= (p.Phe36=)
c.1064T= (p.Leu355=)
c.416T= (p.Leu139=)
3g.38925438A>CCA352173181SCN11Ac.689T>G (p.Leu230Trp)
c.733T>G (n.733T>G)
c.108T>G (p.Phe36Leu)
c.1064T>G (p.Leu355Trp)
c.416T>G (p.Leu139Trp)
3g.38925438A>GCA352173183SCN11Ac.689T>C (p.Leu230Ser)
c.733T>C (n.733T>C)
c.108T>C (p.Phe36=)
c.1064T>C (p.Leu355Ser)
c.416T>C (p.Leu139Ser)
3g.38925438A>TCA352173187SCN11Ac.689T>A (p.Leu230Ter)
c.733T>A (n.733T>A)
c.108T>A (p.Phe36Leu)
c.1064T>A (p.Leu355Ter)
c.416T>A (p.Leu139Ter)
 dbSNP
3g.38925440_38925441insAAAAACA2665132305SCN11Ac.689_690insTTTTT (p.Leu230PhefsTer3)
c.733_734insTTTTT (n.733_734insTTTTT)
c.108_109insTTTTT (p.Glu37PhefsTer15)
c.1064_1065insTTTTT (p.Leu355PhefsTer3)
c.416_417insTTTTT (p.Leu139PhefsTer3)
 gnomAD v4
3g.38925439A>CCA352173190SCN11Ac.688T>G (p.Leu230Val)
c.732T>G (n.732T>G)
c.107T>G (p.Phe36Cys)
c.1063T>G (p.Leu355Val)
c.415T>G (p.Leu139Val)
3g.38925439A>GCA433142251SCN11Ac.688T>C (p.Leu230=)
c.732T>C (n.732T>C)
c.107T>C (p.Phe36Ser)
c.1063T>C (p.Leu355=)
c.415T>C (p.Leu139=)
3g.38925439A>TCA352173193SCN11Ac.688T>A (p.Leu230Met)
c.732T>A (n.732T>A)
c.107T>A (p.Phe36Tyr)
c.1063T>A (p.Leu355Met)
c.415T>A (p.Leu139Met)
3g.38925440A>CCA433142252SCN11Ac.687T>G (p.Ala229=)
c.731T>G (n.731T>G)
c.106T>G (p.Phe36Val)
c.1062T>G (p.Ala354=)
c.414T>G (p.Ala138=)
3g.38925440A>GCA433142253SCN11Ac.687T>C (p.Ala229=)
c.731T>C (n.731T>C)
c.106T>C (p.Phe36Leu)
c.1062T>C (p.Ala354=)
c.414T>C (p.Ala138=)
3g.38925440A>TCA433142254SCN11Ac.687T>A (p.Ala229=)
c.731T>A (n.731T>A)
c.106T>A (p.Phe36Ile)
c.1062T>A (p.Ala354=)
c.414T>A (p.Ala138=)
3g.38925441G>ACA352173200SCN11Ac.686C>T (p.Ala229Val)
c.730C>T (n.730C>T)
c.105C>T (p.Ser35=)
c.1061C>T (p.Ala354Val)
c.413C>T (p.Ala138Val)
3g.38925441G>CCA352173195SCN11Ac.686C>G (p.Ala229Gly)
c.730C>G (n.730C>G)
c.105C>G (p.Ser35Arg)
c.1061C>G (p.Ala354Gly)
c.413C>G (p.Ala138Gly)
 ClinVar dbSNP gnomAD v4
3g.38925441G>TCA352173198SCN11Ac.686C>A (p.Ala229Asp)
c.730C>A (n.730C>A)
c.105C>A (p.Ser35Arg)
c.1061C>A (p.Ala354Asp)
c.413C>A (p.Ala138Asp)
3g.38925442C>ACA352173203SCN11Ac.685G>T (p.Ala229Ser)
c.729G>T (n.729G>T)
c.104G>T (p.Ser35Ile)
c.1060G>T (p.Ala354Ser)
c.412G>T (p.Ala138Ser)
3g.38925442C>GCA352173206SCN11Ac.685G>C (p.Ala229Pro)
c.729G>C (n.729G>C)
c.104G>C (p.Ser35Thr)
c.1060G>C (p.Ala354Pro)
c.412G>C (p.Ala138Pro)
3g.38925442C>TCA352173208SCN11Ac.685G>A (p.Ala229Thr)
c.729G>A (n.729G>A)
c.104G>A (p.Ser35Asn)
c.1060G>A (p.Ala354Thr)
c.412G>A (p.Ala138Thr)
3g.38925443T>ACA352173210SCN11Ac.684A>T (p.Arg228Ser)
c.728A>T (n.728A>T)
c.103A>T (p.Ser35Cys)
c.1059A>T (p.Arg353Ser)
c.411A>T (p.Arg137Ser)
3g.38925443T>CCA433142255SCN11Ac.684A>G (p.Arg228=)
c.728A>G (n.728A>G)
c.103A>G (p.Ser35Gly)
c.1059A>G (p.Arg353=)
c.411A>G (p.Arg137=)
 gnomAD v4
3g.38925443T>GCA352173212SCN11Ac.684A>C (p.Arg228Ser)
c.728A>C (n.728A>C)
c.103A>C (p.Ser35Arg)
c.1059A>C (p.Arg353Ser)
c.411A>C (p.Arg137Ser)
3g.38925444C>ACA352173215SCN11Ac.683G>T (p.Arg228Ile)
c.727G>T (n.727G>T)
c.102G>T (p.Gln34His)
c.1058G>T (p.Arg353Ile)
c.410G>T (p.Arg137Ile)
3g.38925444C>GCA352173218SCN11Ac.683G>C (p.Arg228Thr)
c.727G>C (n.727G>C)
c.102G>C (p.Gln34His)
c.1058G>C (p.Arg353Thr)
c.410G>C (p.Arg137Thr)
3g.38925444C>TCA352173220SCN11Ac.683G>A (p.Arg228Lys)
c.727G>A (n.727G>A)
c.102G>A (p.Gln34=)
c.1058G>A (p.Arg353Lys)
c.410G>A (p.Arg137Lys)
3g.38925445T>ACA352173223SCN11Ac.682A>T (p.Arg228Ter)
c.726A>T (n.726A>T)
c.101A>T (p.Gln34Leu)
c.1057A>T (p.Arg353Ter)
c.409A>T (p.Arg137Ter)
3g.38925445T>CCA352173225SCN11Ac.682A>G (p.Arg228Gly)
c.726A>G (n.726A>G)
c.101A>G (p.Gln34Arg)
c.1057A>G (p.Arg353Gly)
c.409A>G (p.Arg137Gly)
3g.38925445T>GCA72974254SCN11Ac.682A>C (p.Arg228=)
c.726A>C (n.726A>C)
c.101A>C (p.Gln34Pro)
c.1057A>C (p.Arg353=)
c.409A>C (p.Arg137=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38925445T=CA1358731582SCN11Ac.682A= (p.Arg228=)
c.726A= (n.726A=)
c.101A= (p.Gln34=)
c.1057A= (p.Arg353=)
c.409A= (p.Arg137=)
3g.38925446G>ACA433142256SCN11Ac.681C>T (p.Phe227=)
c.725C>T (n.725C>T)
c.100C>T (p.Gln34Ter)
c.1056C>T (p.Phe352=)
c.408C>T (p.Phe136=)
3g.38925446G>CCA352173228SCN11Ac.681C>G (p.Phe227Leu)
c.725C>G (n.725C>G)
c.100C>G (p.Gln34Glu)
c.1056C>G (p.Phe352Leu)
c.408C>G (p.Phe136Leu)
3g.38925446G>TCA352173231SCN11Ac.681C>A (p.Phe227Leu)
c.725C>A (n.725C>A)
c.100C>A (p.Gln34Lys)
c.1056C>A (p.Phe352Leu)
c.408C>A (p.Phe136Leu)
3g.38925447A>CCA352173237SCN11Ac.680T>G (p.Phe227Cys)
c.724T>G (n.724T>G)
c.99T>G (p.Val33=)
c.1055T>G (p.Phe352Cys)
c.407T>G (p.Phe136Cys)
3g.38925447A>GCA352173239SCN11Ac.680T>C (p.Phe227Ser)
c.724T>C (n.724T>C)
c.99T>C (p.Val33=)
c.1055T>C (p.Phe352Ser)
c.407T>C (p.Phe136Ser)
3g.38925447A>TCA352173235SCN11Ac.680T>A (p.Phe227Tyr)
c.724T>A (n.724T>A)
c.99T>A (p.Val33=)
c.1055T>A (p.Phe352Tyr)
c.407T>A (p.Phe136Tyr)
3g.38925448A>CCA352173243SCN11Ac.679T>G (p.Phe227Val)
c.723T>G (n.723T>G)
c.98T>G (p.Val33Gly)
c.1054T>G (p.Phe352Val)
c.406T>G (p.Phe136Val)
3g.38925448A>GCA352173241SCN11Ac.679T>C (p.Phe227Leu)
c.723T>C (n.723T>C)
c.98T>C (p.Val33Ala)
c.1054T>C (p.Phe352Leu)
c.406T>C (p.Phe136Leu)
3g.38925448A>TCA352173245SCN11Ac.679T>A (p.Phe227Ile)
c.723T>A (n.723T>A)
c.98T>A (p.Val33Asp)
c.1054T>A (p.Phe352Ile)
c.406T>A (p.Phe136Ile)
 gnomAD v4
3g.38925449C>ACA433142257SCN11Ac.678G>T (p.Val226=)
c.722G>T (n.722G>T)
c.97G>T (p.Val33Phe)
c.1053G>T (p.Val351=)
c.405G>T (p.Val135=)
3g.38925449C>GCA433142258SCN11Ac.678G>C (p.Val226=)
c.722G>C (n.722G>C)
c.97G>C (p.Val33Leu)
c.1053G>C (p.Val351=)
c.405G>C (p.Val135=)
3g.38925449C>TCA433142259SCN11Ac.678G>A (p.Val226=)
c.722G>A (n.722G>A)
c.97G>A (p.Val33Ile)
c.1053G>A (p.Val351=)
c.405G>A (p.Val135=)
 gnomAD v4
3g.38925450A>CCA352173249SCN11Ac.677T>G (p.Val226Gly)
c.721T>G (n.721T>G)
c.96T>G (p.Cys32Trp)
c.1052T>G (p.Val351Gly)
c.404T>G (p.Val135Gly)
3g.38925450A>GCA352173254SCN11Ac.677T>C (p.Val226Ala)
c.721T>C (n.721T>C)
c.96T>C (p.Cys32=)
c.1052T>C (p.Val351Ala)
c.404T>C (p.Val135Ala)
3g.38925450A>TCA352173251SCN11Ac.677T>A (p.Val226Glu)
c.721T>A (n.721T>A)
c.96T>A (p.Cys32Ter)
c.1052T>A (p.Val351Glu)
c.404T>A (p.Val135Glu)
3g.38925451C>ACA352173257SCN11Ac.676G>T (p.Val226Leu)
c.720G>T (n.720G>T)
c.95G>T (p.Cys32Phe)
c.1051G>T (p.Val351Leu)
c.403G>T (p.Val135Leu)
3g.38925451C>GCA352173260SCN11Ac.676G>C (p.Val226Leu)
c.720G>C (n.720G>C)
c.95G>C (p.Cys32Ser)
c.1051G>C (p.Val351Leu)
c.403G>C (p.Val135Leu)
3g.38925451C>TCA352173262SCN11Ac.676G>A (p.Val226Met)
c.720G>A (n.720G>A)
c.95G>A (p.Cys32Tyr)
c.1051G>A (p.Val351Met)
c.403G>A (p.Val135Met)
3g.38925452A>CCA433142260SCN11Ac.675T>G (p.Arg225=)
c.719T>G (n.719T>G)
c.94T>G (p.Cys32Gly)
c.1050T>G (p.Arg350=)
c.402T>G (p.Arg134=)
3g.38925452A>GCA433142261SCN11Ac.675T>C (p.Arg225=)
c.719T>C (n.719T>C)
c.94T>C (p.Cys32Arg)
c.1050T>C (p.Arg350=)
c.402T>C (p.Arg134=)
3g.38925452A>TCA433142262SCN11Ac.675T>A (p.Arg225=)
c.719T>A (n.719T>A)
c.94T>A (p.Cys32Ser)
c.1050T>A (p.Arg350=)
c.402T>A (p.Arg134=)
3g.38925453C>ACA352173265SCN11Ac.674G>T (p.Arg225Leu)
c.718G>T (n.718G>T)
c.93G>T (p.Pro31=)
c.1049G>T (p.Arg350Leu)
c.401G>T (p.Arg134Leu)
3g.38925453C=CA1358731584SCN11Ac.674G= (p.Arg225=)
c.718G= (n.718G=)
c.93G= (p.Pro31=)
c.1049G= (p.Arg350=)
c.401G= (p.Arg134=)
3g.38925453C>GCA352173267SCN11Ac.674G>C (p.Arg225Pro)
c.718G>C (n.718G>C)
c.93G>C (p.Pro31=)
c.1049G>C (p.Arg350Pro)
c.401G>C (p.Arg134Pro)
3g.38925453C>TCA2322549SCN11Ac.674G>A (p.Arg225His)
c.718G>A (n.718G>A)
c.93G>A (p.Pro31=)
c.1049G>A (p.Arg350His)
c.401G>A (p.Arg134His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38925453_38925454delinsCGCA1358731583SCN11Ac.673_674delinsCG (p.Arg225=)
c.717_718delinsCG (n.717_718delinsCG)
c.92_93delinsCG (p.Pro31=)
c.1048_1049delinsCG (p.Arg350=)
c.400_401delinsCG (p.Arg134=)
3g.38925454G>ACA145434SCN11Ac.673C>T (p.Arg225Cys)
c.717C>T (n.717C>T)
c.92C>T (p.Pro31Leu)
c.1048C>T (p.Arg350Cys)
c.400C>T (p.Arg134Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38925454G>CCA352173273SCN11Ac.673C>G (p.Arg225Gly)
c.717C>G (n.717C>G)
c.92C>G (p.Pro31Arg)
c.1048C>G (p.Arg350Gly)
c.400C>G (p.Arg134Gly)
3g.38925454G=CA1358731585SCN11Ac.673C= (p.Arg225=)
c.717C= (n.717C=)
c.92C= (p.Pro31=)
c.1048C= (p.Arg350=)
c.400C= (p.Arg134=)
3g.38925454G>TCA352173275SCN11Ac.673C>A (p.Arg225Ser)
c.717C>A (n.717C>A)
c.92C>A (p.Pro31Gln)
c.1048C>A (p.Arg350Ser)
c.400C>A (p.Arg134Ser)
3g.38925455delCA891843097SCN11Ac.673del (p.Arg225ValfsTer6)
c.717del (n.717del)
c.92del (p.Pro31ArgfsTer19)
c.1048del (p.Arg350ValfsTer6)
c.400del (p.Arg134ValfsTer6)
 ClinVar dbSNP

Number of alleles fetched