Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.121854644T>ACA2671949163BBS7c.718+60A>T (n.718+60A>T)
c.721+60A>T (n.721+60A>T)
c.766+60A>T (n.766+60A>T)
c.763+60A>T (n.763+60A>T)
 gnomAD v4
4g.121854644T>CCA786316027BBS7c.718+60A>G (n.718+60A>G)
c.721+60A>G (n.721+60A>G)
c.766+60A>G (n.766+60A>G)
c.763+60A>G (n.763+60A>G)
 dbSNP gnomAD v4
4g.121854644T=CA1490025948BBS7c.718+60A= (n.718+60A=)
c.721+60A= (n.721+60A=)
c.766+60A= (n.766+60A=)
c.763+60A= (n.763+60A=)
4g.121854645A>GCA2671949164BBS7c.718+59T>C (n.718+59T>C)
c.721+59T>C (n.721+59T>C)
c.766+59T>C (n.766+59T>C)
c.763+59T>C (n.763+59T>C)
 gnomAD v4
4g.121854646delCA2578181048BBS7c.718+59del (n.718+59del)
c.721+59del (n.721+59del)
c.766+59del (n.766+59del)
c.763+59del (n.763+59del)
4g.121854647T>CCA2671949166BBS7c.718+57A>G (n.718+57A>G)
c.721+57A>G (n.721+57A>G)
c.766+57A>G (n.766+57A>G)
c.763+57A>G (n.763+57A>G)
 gnomAD v4
4g.121854649delCA2671949165BBS7c.718+57del (n.718+57del)
c.721+57del (n.721+57del)
c.766+57del (n.766+57del)
c.763+57del (n.763+57del)
 gnomAD v4
4g.121854650A=CA1490025949BBS7c.718+54T= (n.718+54T=)
c.721+54T= (n.721+54T=)
c.766+54T= (n.766+54T=)
c.763+54T= (n.763+54T=)
4g.121854650A>CCA104766629BBS7c.718+54T>G (n.718+54T>G)
c.721+54T>G (n.721+54T>G)
c.766+54T>G (n.766+54T>G)
c.763+54T>G (n.763+54T>G)
 dbSNP gnomAD v3 gnomAD v4
4g.121854650A>GCA104766630BBS7c.718+54T>C (n.718+54T>C)
c.721+54T>C (n.721+54T>C)
c.766+54T>C (n.766+54T>C)
c.763+54T>C (n.763+54T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.121854651A>GCA2671949167BBS7c.718+53T>C (n.718+53T>C)
c.721+53T>C (n.721+53T>C)
c.766+53T>C (n.766+53T>C)
c.763+53T>C (n.763+53T>C)
 gnomAD v4
4g.121854651A>TCA2671949168BBS7c.718+53T>A (n.718+53T>A)
c.721+53T>A (n.721+53T>A)
c.766+53T>A (n.766+53T>A)
c.763+53T>A (n.763+53T>A)
 gnomAD v4
4g.121854653A>TCA2763339193BBS7c.718+51T>A (n.718+51T>A)
c.721+51T>A (n.721+51T>A)
c.766+51T>A (n.766+51T>A)
c.763+51T>A (n.763+51T>A)
4g.121854656C=CA1490025950BBS7c.718+48G= (n.718+48G=)
c.721+48G= (n.721+48G=)
c.766+48G= (n.766+48G=)
c.763+48G= (n.763+48G=)
4g.121854656C>TCA3064422BBS7c.718+48G>A (n.718+48G>A)
c.721+48G>A (n.721+48G>A)
c.766+48G>A (n.766+48G>A)
c.763+48G>A (n.763+48G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.121854657T>CCA2671949169BBS7c.718+47A>G (n.718+47A>G)
c.721+47A>G (n.721+47A>G)
c.766+47A>G (n.766+47A>G)
c.763+47A>G (n.763+47A>G)
 gnomAD v4
4g.121854658T>CCA2671949170BBS7c.718+46A>G (n.718+46A>G)
c.721+46A>G (n.721+46A>G)
c.766+46A>G (n.766+46A>G)
c.763+46A>G (n.763+46A>G)
 gnomAD v4
4g.121854659A>CCA2578181049BBS7c.718+45T>G (n.718+45T>G)
c.721+45T>G (n.721+45T>G)
c.766+45T>G (n.766+45T>G)
c.763+45T>G (n.763+45T>G)
4g.121854660A>GCA2763339194BBS7c.718+44T>C (n.718+44T>C)
c.721+44T>C (n.721+44T>C)
c.766+44T>C (n.766+44T>C)
c.763+44T>C (n.763+44T>C)
4g.121854662A=CA1490025951BBS7c.718+42T= (n.718+42T=)
c.721+42T= (n.721+42T=)
c.766+42T= (n.766+42T=)
c.763+42T= (n.763+42T=)
4g.121854662A>GCA3064423BBS7c.718+42T>C (n.718+42T>C)
c.721+42T>C (n.721+42T>C)
c.766+42T>C (n.766+42T>C)
c.763+42T>C (n.763+42T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.121854662A>TCA3064424BBS7c.718+42T>A (n.718+42T>A)
c.721+42T>A (n.721+42T>A)
c.766+42T>A (n.766+42T>A)
c.763+42T>A (n.763+42T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.121854663A>GCA2671949172BBS7c.718+41T>C (n.718+41T>C)
c.721+41T>C (n.721+41T>C)
c.766+41T>C (n.766+41T>C)
c.763+41T>C (n.763+41T>C)
 gnomAD v4
4g.121854664_121854665insTATCA2671949171BBS7c.718+41_718+42insAAT (n.718+41_718+42insAAT)
c.721+41_721+42insAAT (n.721+41_721+42insAAT)
c.766+41_766+42insAAT (n.766+41_766+42insAAT)
c.763+41_763+42insAAT (n.763+41_763+42insAAT)
 gnomAD v4
4g.121854664T>ACA1490025953BBS7c.718+40A>T (n.718+40A>T)
c.721+40A>T (n.721+40A>T)
c.766+40A>T (n.766+40A>T)
c.763+40A>T (n.763+40A>T)
 dbSNP gnomAD v4
4g.121854664T>CCA554188412BBS7c.718+40A>G (n.718+40A>G)
c.721+40A>G (n.721+40A>G)
c.766+40A>G (n.766+40A>G)
c.763+40A>G (n.763+40A>G)
 dbSNP gnomAD v2 gnomAD v4
4g.121854664T=CA1490025952BBS7c.718+40A= (n.718+40A=)
c.721+40A= (n.721+40A=)
c.766+40A= (n.766+40A=)
c.763+40A= (n.763+40A=)
4g.121854665C>TCA2671949173BBS7c.718+39G>A (n.718+39G>A)
c.721+39G>A (n.721+39G>A)
c.766+39G>A (n.766+39G>A)
c.763+39G>A (n.763+39G>A)
 gnomAD v4
4g.121854667T>CCA1490025955BBS7c.718+37A>G (n.718+37A>G)
c.721+37A>G (n.721+37A>G)
c.766+37A>G (n.766+37A>G)
c.763+37A>G (n.763+37A>G)
 dbSNP gnomAD v4
4g.121854667T=CA1490025954BBS7c.718+37A= (n.718+37A=)
c.721+37A= (n.721+37A=)
c.766+37A= (n.766+37A=)
c.763+37A= (n.763+37A=)
4g.121854669G>TCA2671949174BBS7c.718+35C>A (n.718+35C>A)
c.721+35C>A (n.721+35C>A)
c.766+35C>A (n.766+35C>A)
c.763+35C>A (n.763+35C>A)
 gnomAD v4
4g.121854670A>GCA2578181050BBS7c.718+34T>C (n.718+34T>C)
c.721+34T>C (n.721+34T>C)
c.766+34T>C (n.766+34T>C)
c.763+34T>C (n.763+34T>C)
 gnomAD v4
4g.121854672A>CCA2671949175BBS7c.718+32T>G (n.718+32T>G)
c.721+32T>G (n.721+32T>G)
c.766+32T>G (n.766+32T>G)
c.763+32T>G (n.763+32T>G)
 gnomAD v4
4g.121854672A>TCA2763339195BBS7c.718+32T>A (n.718+32T>A)
c.721+32T>A (n.721+32T>A)
c.766+32T>A (n.766+32T>A)
c.763+32T>A (n.763+32T>A)
4g.121854673C=CA1490025956BBS7c.718+31G= (n.718+31G=)
c.721+31G= (n.721+31G=)
c.766+31G= (n.766+31G=)
c.763+31G= (n.763+31G=)
4g.121854673C>TCA554188413BBS7c.718+31G>A (n.718+31G>A)
c.721+31G>A (n.721+31G>A)
c.766+31G>A (n.766+31G>A)
c.763+31G>A (n.763+31G>A)
 dbSNP gnomAD v2 gnomAD v4
4g.121854674C>ACA2671949176BBS7c.718+30G>T (n.718+30G>T)
c.721+30G>T (n.721+30G>T)
c.766+30G>T (n.766+30G>T)
c.763+30G>T (n.763+30G>T)
 gnomAD v4
4g.121854674C>TCA2578181051BBS7c.718+30G>A (n.718+30G>A)
c.721+30G>A (n.721+30G>A)
c.766+30G>A (n.766+30G>A)
c.763+30G>A (n.763+30G>A)
4g.121854676C>ACA2671949177BBS7c.718+28G>T (n.718+28G>T)
c.721+28G>T (n.721+28G>T)
c.766+28G>T (n.766+28G>T)
c.763+28G>T (n.763+28G>T)
 gnomAD v4
4g.121854676C>TCA2671949178BBS7c.718+28G>A (n.718+28G>A)
c.721+28G>A (n.721+28G>A)
c.766+28G>A (n.766+28G>A)
c.763+28G>A (n.763+28G>A)
 gnomAD v4
4g.121854679A=CA1490025957BBS7c.718+25T= (n.718+25T=)
c.721+25T= (n.721+25T=)
c.766+25T= (n.766+25T=)
c.763+25T= (n.763+25T=)
4g.121854679A>CCA3064425BBS7c.718+25T>G (n.718+25T>G)
c.721+25T>G (n.721+25T>G)
c.766+25T>G (n.766+25T>G)
c.763+25T>G (n.763+25T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.121854682C>GCA2671949179BBS7c.718+22G>C (n.718+22G>C)
c.721+22G>C (n.721+22G>C)
c.766+22G>C (n.766+22G>C)
c.763+22G>C (n.763+22G>C)
 gnomAD v4
4g.121854683T>CCA2671949180BBS7c.718+21A>G (n.718+21A>G)
c.721+21A>G (n.721+21A>G)
c.766+21A>G (n.766+21A>G)
c.763+21A>G (n.763+21A>G)
 gnomAD v4
4g.121854684G>CCA2671949181BBS7c.718+20C>G (n.718+20C>G)
c.721+20C>G (n.721+20C>G)
c.766+20C>G (n.766+20C>G)
c.763+20C>G (n.763+20C>G)
 ClinVar gnomAD v4
4g.121854684G=CA1490025958BBS7c.718+20C= (n.718+20C=)
c.721+20C= (n.721+20C=)
c.766+20C= (n.766+20C=)
c.763+20C= (n.763+20C=)
4g.121854684G>TCA1067454882BBS7c.718+20C>A (n.718+20C>A)
c.721+20C>A (n.721+20C>A)
c.766+20C>A (n.766+20C>A)
c.763+20C>A (n.763+20C>A)
 dbSNP gnomAD v3 gnomAD v4
4g.121854685A>GCA2671949182BBS7c.718+19T>C (n.718+19T>C)
c.721+19T>C (n.721+19T>C)
c.766+19T>C (n.766+19T>C)
c.763+19T>C (n.763+19T>C)
 gnomAD v4
4g.121854688T>ACA3064426BBS7c.718+16A>T (n.718+16A>T)
c.721+16A>T (n.721+16A>T)
c.766+16A>T (n.766+16A>T)
c.763+16A>T (n.763+16A>T)
 ClinVar dbSNP ExAC gnomAD v2
4g.121854688T=CA1490025959BBS7c.718+16A= (n.718+16A=)
c.721+16A= (n.721+16A=)
c.766+16A= (n.766+16A=)
c.763+16A= (n.763+16A=)
4g.121854689A=CA1490025960BBS7c.718+15T= (n.718+15T=)
c.721+15T= (n.721+15T=)
c.766+15T= (n.766+15T=)
c.763+15T= (n.763+15T=)
4g.121854689A>GCA3064427BBS7c.718+15T>C (n.718+15T>C)
c.721+15T>C (n.721+15T>C)
c.766+15T>C (n.766+15T>C)
c.763+15T>C (n.763+15T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.121854690C>ACA1490025962BBS7c.718+14G>T (n.718+14G>T)
c.721+14G>T (n.721+14G>T)
c.766+14G>T (n.766+14G>T)
c.763+14G>T (n.763+14G>T)
 dbSNP
4g.121854690C=CA1490025961BBS7c.718+14G= (n.718+14G=)
c.721+14G= (n.721+14G=)
c.766+14G= (n.766+14G=)
c.763+14G= (n.763+14G=)
4g.121854690C>TCA2671949183BBS7c.718+14G>A (n.718+14G>A)
c.721+14G>A (n.721+14G>A)
c.766+14G>A (n.766+14G>A)
c.763+14G>A (n.763+14G>A)
 gnomAD v4
4g.121854691A=CA1490025963BBS7c.718+13T= (n.718+13T=)
c.721+13T= (n.721+13T=)
c.766+13T= (n.766+13T=)
c.763+13T= (n.763+13T=)
4g.121854691A>GCA1490025964BBS7c.718+13T>C (n.718+13T>C)
c.721+13T>C (n.721+13T>C)
c.766+13T>C (n.766+13T>C)
c.763+13T>C (n.763+13T>C)
 dbSNP gnomAD v4
4g.121854692T>CCA3064428BBS7c.718+12A>G (n.718+12A>G)
c.721+12A>G (n.721+12A>G)
c.766+12A>G (n.766+12A>G)
c.763+12A>G (n.763+12A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.121854692T>GCA554188414BBS7c.718+12A>C (n.718+12A>C)
c.721+12A>C (n.721+12A>C)
c.766+12A>C (n.766+12A>C)
c.763+12A>C (n.763+12A>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.121854692T=CA1490025965BBS7c.718+12A= (n.718+12A=)
c.721+12A= (n.721+12A=)
c.766+12A= (n.766+12A=)
c.763+12A= (n.763+12A=)
4g.121854693G>ACA3064429BBS7c.718+11C>T (n.718+11C>T)
c.721+11C>T (n.721+11C>T)
c.766+11C>T (n.766+11C>T)
c.763+11C>T (n.763+11C>T)
 dbSNP ExAC gnomAD v2
4g.121854693G=CA1490025966BBS7c.718+11C= (n.718+11C=)
c.721+11C= (n.721+11C=)
c.766+11C= (n.766+11C=)
c.763+11C= (n.763+11C=)
4g.121854694A>GCA2578181052BBS7c.718+10T>C (n.718+10T>C)
c.721+10T>C (n.721+10T>C)
c.766+10T>C (n.766+10T>C)
c.763+10T>C (n.763+10T>C)
4g.121854695A=CA1490025967BBS7c.718+9T= (n.718+9T=)
c.721+9T= (n.721+9T=)
c.766+9T= (n.766+9T=)
c.763+9T= (n.763+9T=)
4g.121854695A>GCA3064430BBS7c.718+9T>C (n.718+9T>C)
c.721+9T>C (n.721+9T>C)
c.766+9T>C (n.766+9T>C)
c.763+9T>C (n.763+9T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.121854699C>ACA2671949184BBS7c.718+5G>T (n.718+5G>T)
c.721+5G>T (n.721+5G>T)
c.766+5G>T (n.766+5G>T)
c.763+5G>T (n.763+5G>T)
 gnomAD v4
4g.121854701T>ACA2580071437BBS7c.718+3A>T (n.718+3A>T)
c.721+3A>T (n.721+3A>T)
c.766+3A>T (n.766+3A>T)
c.763+3A>T (n.763+3A>T)
 ClinVar
4g.121854701T>CCA554188415BBS7c.718+3A>G (n.718+3A>G)
c.721+3A>G (n.721+3A>G)
c.766+3A>G (n.766+3A>G)
c.763+3A>G (n.763+3A>G)
 dbSNP gnomAD v2 gnomAD v4
4g.121854701T=CA1490025968BBS7c.718+3A= (n.718+3A=)
c.721+3A= (n.721+3A=)
c.766+3A= (n.766+3A=)
c.763+3A= (n.763+3A=)
4g.121854702A>CCA358065481BBS7c.718+2T>G (n.718+2T>G)
c.721+2T>G (n.721+2T>G)
c.766+2T>G (n.766+2T>G)
c.763+2T>G (n.763+2T>G)
4g.121854702A>GCA358065488BBS7c.718+2T>C (n.718+2T>C)
c.721+2T>C (n.721+2T>C)
c.766+2T>C (n.766+2T>C)
c.763+2T>C (n.763+2T>C)
4g.121854702A>TCA358065492BBS7c.718+2T>A (n.718+2T>A)
c.721+2T>A (n.721+2T>A)
c.766+2T>A (n.766+2T>A)
c.763+2T>A (n.763+2T>A)
4g.121854703C>ACA104766659BBS7c.718+1G>T (n.718+1G>T)
c.721+1G>T (n.721+1G>T)
c.766+1G>T (n.766+1G>T)
c.763+1G>T (n.763+1G>T)
 dbSNP
4g.121854703C=CA1490025969BBS7c.718+1G= (n.718+1G=)
c.721+1G= (n.721+1G=)
c.766+1G= (n.766+1G=)
c.763+1G= (n.763+1G=)
4g.121854703C>GCA358065520BBS7c.718+1G>C (n.718+1G>C)
c.721+1G>C (n.721+1G>C)
c.766+1G>C (n.766+1G>C)
c.763+1G>C (n.763+1G>C)
 ClinVar
4g.121854703C>TCA358065522BBS7c.718+1G>A (n.718+1G>A)
c.721+1G>A (n.721+1G>A)
c.766+1G>A (n.766+1G>A)
c.763+1G>A (n.763+1G>A)
4g.121854707_121854709dupCA2671949185BBS7c.717_718+1dup
c.720_721+1dup
c.765_766+1dup
c.762_763+1dup
 gnomAD v4
4g.121854704C>ACA358065523BBS7c.718G>T (p.Gly240Cys)
c.721G>T (p.Gly241Cys)
c.766G>T (p.Gly256Cys)
c.763G>T (p.Gly255Cys)
4g.121854704C=CA1490025970BBS7c.718G= (p.Gly240=)
c.721G= (p.Gly241=)
c.766G= (p.Gly256=)
c.763G= (p.Gly255=)
4g.121854704C>GCA358065524BBS7c.718G>C (p.Gly240Arg)
c.721G>C (p.Gly241Arg)
c.766G>C (p.Gly256Arg)
c.763G>C (p.Gly255Arg)
4g.121854704C>TCA3064431BBS7c.718G>A (p.Gly240Ser)
c.721G>A (p.Gly241Ser)
c.766G>A (p.Gly256Ser)
c.763G>A (p.Gly255Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.121854705T>ACA440922761BBS7c.717A>T (p.Gly239=)
c.720A>T (p.Gly240=)
c.765A>T (p.Gly255=)
c.762A>T (p.Gly254=)
4g.121854705T>CCA440922762BBS7c.717A>G (p.Gly239=)
c.720A>G (p.Gly240=)
c.765A>G (p.Gly255=)
c.762A>G (p.Gly254=)
4g.121854705T>GCA440922763BBS7c.717A>C (p.Gly239=)
c.720A>C (p.Gly240=)
c.765A>C (p.Gly255=)
c.762A>C (p.Gly254=)
 dbSNP gnomAD v2 gnomAD v4
4g.121854705T=CA1490025971BBS7c.717A= (p.Gly239=)
c.720A= (p.Gly240=)
c.765A= (p.Gly255=)
c.762A= (p.Gly254=)
4g.121854706C>ACA358065533BBS7c.716G>T (p.Gly239Val)
c.719G>T (p.Gly240Val)
c.764G>T (p.Gly255Val)
c.761G>T (p.Gly254Val)
4g.121854706C>GCA358065540BBS7c.716G>C (p.Gly239Ala)
c.719G>C (p.Gly240Ala)
c.764G>C (p.Gly255Ala)
c.761G>C (p.Gly254Ala)
4g.121854706C>TCA358065529BBS7c.716G>A (p.Gly239Glu)
c.719G>A (p.Gly240Glu)
c.764G>A (p.Gly255Glu)
c.761G>A (p.Gly254Glu)
4g.121854706_121854710delinsCCTCTCA1490025972BBS7c.712_716delinsAGAGG (p.Arg238=)
c.715_719delinsAGAGG (p.Arg239=)
c.760_764delinsAGAGG (p.Arg254=)
c.757_761delinsAGAGG (p.Arg253=)
4g.121854707C>ACA358065544BBS7c.715G>T (p.Gly239Ter)
c.718G>T (p.Gly240Ter)
c.763G>T (p.Gly255Ter)
c.760G>T (p.Gly254Ter)
4g.121854707C>GCA358065545BBS7c.715G>C (p.Gly239Arg)
c.718G>C (p.Gly240Arg)
c.763G>C (p.Gly255Arg)
c.760G>C (p.Gly254Arg)
4g.121854707C>TCA358065546BBS7c.715G>A (p.Gly239Arg)
c.718G>A (p.Gly240Arg)
c.763G>A (p.Gly255Arg)
c.760G>A (p.Gly254Arg)
4g.121854709_121854712delCA3064432BBS7c.712_715del (p.Arg238GlufsTer?)
c.715_718del (p.Arg239GlufsTer?)
c.760_763del (p.Arg254GlufsTer?)
c.757_760del (p.Arg253GlufsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.121854708T>ACA358065550BBS7c.714A>T (p.Arg238Ser)
c.717A>T (p.Arg239Ser)
c.762A>T (p.Arg254Ser)
c.759A>T (p.Arg253Ser)
4g.121854708T>CCA440922765BBS7c.714A>G (p.Arg238=)
c.717A>G (p.Arg239=)
c.762A>G (p.Arg254=)
c.759A>G (p.Arg253=)
 gnomAD v4
4g.121854708T>GCA358065552BBS7c.714A>C (p.Arg238Ser)
c.717A>C (p.Arg239Ser)
c.762A>C (p.Arg254Ser)
c.759A>C (p.Arg253Ser)
4g.121854709C>ACA358065553BBS7c.713G>T (p.Arg238Ile)
c.716G>T (p.Arg239Ile)
c.761G>T (p.Arg254Ile)
c.758G>T (p.Arg253Ile)
4g.121854709C>GCA358065554BBS7c.713G>C (p.Arg238Thr)
c.716G>C (p.Arg239Thr)
c.761G>C (p.Arg254Thr)
c.758G>C (p.Arg253Thr)
4g.121854709C>TCA358065555BBS7c.713G>A (p.Arg238Lys)
c.716G>A (p.Arg239Lys)
c.761G>A (p.Arg254Lys)
c.758G>A (p.Arg253Lys)
 gnomAD v4
4g.121854709_121854713delinsCTCTTCA1490025973BBS7c.709_713delinsAAGAG (p.Lys237=)
c.712_716delinsAAGAG (p.Lys238=)
c.757_761delinsAAGAG (p.Lys253=)
c.754_758delinsAAGAG (p.Lys252=)
4g.121854710T>ACA358065556BBS7c.712A>T (p.Arg238Ter)
c.715A>T (p.Arg239Ter)
c.760A>T (p.Arg254Ter)
c.757A>T (p.Arg253Ter)
4g.121854710T>CCA358065560BBS7c.712A>G (p.Arg238Gly)
c.715A>G (p.Arg239Gly)
c.760A>G (p.Arg254Gly)
c.757A>G (p.Arg253Gly)
 gnomAD v4
4g.121854710T>GCA440922768BBS7c.712A>C (p.Arg238=)
c.715A>C (p.Arg239=)
c.760A>C (p.Arg254=)
c.757A>C (p.Arg253=)
4g.121854711_121854714delCA252535BBS7c.709_712del (p.Lys237GlufsTer?)
c.712_715del (p.Lys238GlufsTer?)
c.757_760del (p.Lys253GlufsTer?)
c.754_757del (p.Lys252GlufsTer?)
 ClinVar dbSNP
4g.121854711C>ACA358065574BBS7c.711G>T (p.Lys237Asn)
c.714G>T (p.Lys238Asn)
c.759G>T (p.Lys253Asn)
c.756G>T (p.Lys252Asn)
 ClinVar
4g.121854711C>GCA358065573BBS7c.711G>C (p.Lys237Asn)
c.714G>C (p.Lys238Asn)
c.759G>C (p.Lys253Asn)
c.756G>C (p.Lys252Asn)
4g.121854711C>TCA440922769BBS7c.711G>A (p.Lys237=)
c.714G>A (p.Lys238=)
c.759G>A (p.Lys253=)
c.756G>A (p.Lys252=)
4g.121854712T>ACA358065575BBS7c.710A>T (p.Lys237Met)
c.713A>T (p.Lys238Met)
c.758A>T (p.Lys253Met)
c.755A>T (p.Lys252Met)
4g.121854712T>CCA358065576BBS7c.710A>G (p.Lys237Arg)
c.713A>G (p.Lys238Arg)
c.758A>G (p.Lys253Arg)
c.755A>G (p.Lys252Arg)
 dbSNP gnomAD v4
4g.121854712T>GCA358065577BBS7c.710A>C (p.Lys237Thr)
c.713A>C (p.Lys238Thr)
c.758A>C (p.Lys253Thr)
c.755A>C (p.Lys252Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.121854712T=CA1490025974BBS7c.710A= (p.Lys237=)
c.713A= (p.Lys238=)
c.758A= (p.Lys253=)
c.755A= (p.Lys252=)
4g.121854716delCA2671949186BBS7c.710del (p.Lys237ArgfsTer?)
c.713del (p.Lys238ArgfsTer?)
c.758del (p.Lys253ArgfsTer?)
c.755del (p.Lys252ArgfsTer?)
 gnomAD v4
4g.121854713T>ACA358065578BBS7c.709A>T (p.Lys237Ter)
c.712A>T (p.Lys238Ter)
c.757A>T (p.Lys253Ter)
c.754A>T (p.Lys252Ter)
4g.121854713T>CCA358065579BBS7c.709A>G (p.Lys237Glu)
c.712A>G (p.Lys238Glu)
c.757A>G (p.Lys253Glu)
c.754A>G (p.Lys252Glu)
4g.121854713T>GCA358065582BBS7c.709A>C (p.Lys237Gln)
c.712A>C (p.Lys238Gln)
c.757A>C (p.Lys253Gln)
c.754A>C (p.Lys252Gln)
 gnomAD v4
4g.121854714T>ACA358065584BBS7c.708A>T (p.Lys236Asn)
c.711A>T (p.Lys237Asn)
c.756A>T (p.Lys252Asn)
c.753A>T (p.Lys251Asn)
4g.121854714T>CCA440922773BBS7c.708A>G (p.Lys236=)
c.711A>G (p.Lys237=)
c.756A>G (p.Lys252=)
c.753A>G (p.Lys251=)
 dbSNP gnomAD v2
4g.121854714T>GCA358065587BBS7c.708A>C (p.Lys236Asn)
c.711A>C (p.Lys237Asn)
c.756A>C (p.Lys252Asn)
c.753A>C (p.Lys251Asn)
 dbSNP gnomAD v2 gnomAD v4
4g.121854714T=CA1490025975BBS7c.708A= (p.Lys236=)
c.711A= (p.Lys237=)
c.756A= (p.Lys252=)
c.753A= (p.Lys251=)
4g.121854715T>ACA358065591BBS7c.707A>T (p.Lys236Ile)
c.710A>T (p.Lys237Ile)
c.755A>T (p.Lys252Ile)
c.752A>T (p.Lys251Ile)
4g.121854715T>CCA358065595BBS7c.707A>G (p.Lys236Arg)
c.710A>G (p.Lys237Arg)
c.755A>G (p.Lys252Arg)
c.752A>G (p.Lys251Arg)
4g.121854715T>GCA358065606BBS7c.707A>C (p.Lys236Thr)
c.710A>C (p.Lys237Thr)
c.755A>C (p.Lys252Thr)
c.752A>C (p.Lys251Thr)
4g.121854716T>ACA358065612BBS7c.706A>T (p.Lys236Ter)
c.709A>T (p.Lys237Ter)
c.754A>T (p.Lys252Ter)
c.751A>T (p.Lys251Ter)
4g.121854716T>CCA358065613BBS7c.706A>G (p.Lys236Glu)
c.709A>G (p.Lys237Glu)
c.754A>G (p.Lys252Glu)
c.751A>G (p.Lys251Glu)
4g.121854716T>GCA358065614BBS7c.706A>C (p.Lys236Gln)
c.709A>C (p.Lys237Gln)
c.754A>C (p.Lys252Gln)
c.751A>C (p.Lys251Gln)
4g.121854717C>ACA358065615BBS7c.705G>T (p.Glu235Asp)
c.708G>T (p.Glu236Asp)
c.753G>T (p.Glu251Asp)
c.750G>T (p.Glu250Asp)
4g.121854717C>GCA358065616BBS7c.705G>C (p.Glu235Asp)
c.708G>C (p.Glu236Asp)
c.753G>C (p.Glu251Asp)
c.750G>C (p.Glu250Asp)
4g.121854717C>TCA440922775BBS7c.705G>A (p.Glu235=)
c.708G>A (p.Glu236=)
c.753G>A (p.Glu251=)
c.750G>A (p.Glu250=)
4g.121854718T>ACA358065620BBS7c.704A>T (p.Glu235Val)
c.707A>T (p.Glu236Val)
c.752A>T (p.Glu251Val)
c.749A>T (p.Glu250Val)
4g.121854718T>CCA358065639BBS7c.704A>G (p.Glu235Gly)
c.707A>G (p.Glu236Gly)
c.752A>G (p.Glu251Gly)
c.749A>G (p.Glu250Gly)
4g.121854718T>GCA358065636BBS7c.704A>C (p.Glu235Ala)
c.707A>C (p.Glu236Ala)
c.752A>C (p.Glu251Ala)
c.749A>C (p.Glu250Ala)
4g.121854719C>ACA358065641BBS7c.703G>T (p.Glu235Ter)
c.706G>T (p.Glu236Ter)
c.751G>T (p.Glu251Ter)
c.748G>T (p.Glu250Ter)
4g.121854719C>GCA358065646BBS7c.703G>C (p.Glu235Gln)
c.706G>C (p.Glu236Gln)
c.751G>C (p.Glu251Gln)
c.748G>C (p.Glu250Gln)
4g.121854719C>TCA358065643BBS7c.703G>A (p.Glu235Lys)
c.706G>A (p.Glu236Lys)
c.751G>A (p.Glu251Lys)
c.748G>A (p.Glu250Lys)
4g.121854720A=CA1490025976BBS7c.702T= (p.Asn234=)
c.705T= (p.Asn235=)
c.750T= (p.Asn250=)
c.747T= (p.Asn249=)
4g.121854720A>CCA358065651BBS7c.702T>G (p.Asn234Lys)
c.705T>G (p.Asn235Lys)
c.750T>G (p.Asn250Lys)
c.747T>G (p.Asn249Lys)
 gnomAD v4
4g.121854720A>GCA440922776BBS7c.702T>C (p.Asn234=)
c.705T>C (p.Asn235=)
c.750T>C (p.Asn250=)
c.747T>C (p.Asn249=)
 dbSNP gnomAD v2 gnomAD v4
4g.121854720A>TCA358065653BBS7c.702T>A (p.Asn234Lys)
c.705T>A (p.Asn235Lys)
c.750T>A (p.Asn250Lys)
c.747T>A (p.Asn249Lys)
4g.121854721T>ACA358065656BBS7c.701A>T (p.Asn234Ile)
c.704A>T (p.Asn235Ile)
c.749A>T (p.Asn250Ile)
c.746A>T (p.Asn249Ile)
4g.121854721T>CCA358065659BBS7c.701A>G (p.Asn234Ser)
c.704A>G (p.Asn235Ser)
c.749A>G (p.Asn250Ser)
c.746A>G (p.Asn249Ser)
4g.121854721T>GCA358065662BBS7c.701A>C (p.Asn234Thr)
c.704A>C (p.Asn235Thr)
c.749A>C (p.Asn250Thr)
c.746A>C (p.Asn249Thr)
4g.121854722T>ACA358065664BBS7c.700A>T (p.Asn234Tyr)
c.703A>T (p.Asn235Tyr)
c.748A>T (p.Asn250Tyr)
c.745A>T (p.Asn249Tyr)
4g.121854722T>CCA358065666BBS7c.700A>G (p.Asn234Asp)
c.703A>G (p.Asn235Asp)
c.748A>G (p.Asn250Asp)
c.745A>G (p.Asn249Asp)
4g.121854722T>GCA358065667BBS7c.700A>C (p.Asn234His)
c.703A>C (p.Asn235His)
c.748A>C (p.Asn250His)
c.745A>C (p.Asn249His)
4g.121854723T>ACA358065668BBS7c.699A>T (p.Gln233His)
c.702A>T (p.Gln234His)
c.747A>T (p.Gln249His)
c.744A>T (p.Gln248His)
4g.121854723T>CCA440922777BBS7c.699A>G (p.Gln233=)
c.702A>G (p.Gln234=)
c.747A>G (p.Gln249=)
c.744A>G (p.Gln248=)
4g.121854723T>GCA358065670BBS7c.699A>C (p.Gln233His)
c.702A>C (p.Gln234His)
c.747A>C (p.Gln249His)
c.744A>C (p.Gln248His)
4g.121854724T>ACA358065679BBS7c.698A>T (p.Gln233Leu)
c.701A>T (p.Gln234Leu)
c.746A>T (p.Gln249Leu)
c.743A>T (p.Gln248Leu)
4g.121854724T>CCA358065674BBS7c.698A>G (p.Gln233Arg)
c.701A>G (p.Gln234Arg)
c.746A>G (p.Gln249Arg)
c.743A>G (p.Gln248Arg)
4g.121854724T>GCA358065672BBS7c.698A>C (p.Gln233Pro)
c.701A>C (p.Gln234Pro)
c.746A>C (p.Gln249Pro)
c.743A>C (p.Gln248Pro)
4g.121854725G>ACA358065681BBS7c.697C>T (p.Gln233Ter)
c.700C>T (p.Gln234Ter)
c.745C>T (p.Gln249Ter)
c.742C>T (p.Gln248Ter)
4g.121854725G>CCA358065683BBS7c.697C>G (p.Gln233Glu)
c.700C>G (p.Gln234Glu)
c.745C>G (p.Gln249Glu)
c.742C>G (p.Gln248Glu)
4g.121854725G>TCA358065688BBS7c.697C>A (p.Gln233Lys)
c.700C>A (p.Gln234Lys)
c.745C>A (p.Gln249Lys)
c.742C>A (p.Gln248Lys)
4g.121854726A=CA1490025977BBS7c.696T= (p.Ile232=)
c.699T= (p.Ile233=)
c.744T= (p.Ile248=)
c.741T= (p.Ile247=)
4g.121854726A>CCA358065692BBS7c.696T>G (p.Ile232Met)
c.699T>G (p.Ile233Met)
c.744T>G (p.Ile248Met)
c.741T>G (p.Ile247Met)
 dbSNP
4g.121854726A>GCA440922778BBS7c.696T>C (p.Ile232=)
c.699T>C (p.Ile233=)
c.744T>C (p.Ile248=)
c.741T>C (p.Ile247=)
4g.121854726A>TCA440922779BBS7c.696T>A (p.Ile232=)
c.699T>A (p.Ile233=)
c.744T>A (p.Ile248=)
c.741T>A (p.Ile247=)
4g.121854727A>CCA358065695BBS7c.695T>G (p.Ile232Ser)
c.698T>G (p.Ile233Ser)
c.743T>G (p.Ile248Ser)
c.740T>G (p.Ile247Ser)
4g.121854727A>GCA358065702BBS7c.695T>C (p.Ile232Thr)
c.698T>C (p.Ile233Thr)
c.743T>C (p.Ile248Thr)
c.740T>C (p.Ile247Thr)
4g.121854727A>TCA358065705BBS7c.695T>A (p.Ile232Asn)
c.698T>A (p.Ile233Asn)
c.743T>A (p.Ile248Asn)
c.740T>A (p.Ile247Asn)
4g.121854728T>ACA358065709BBS7c.694A>T (p.Ile232Phe)
c.697A>T (p.Ile233Phe)
c.742A>T (p.Ile248Phe)
c.739A>T (p.Ile247Phe)
4g.121854728T>CCA358065711BBS7c.694A>G (p.Ile232Val)
c.697A>G (p.Ile233Val)
c.742A>G (p.Ile248Val)
c.739A>G (p.Ile247Val)
4g.121854728T>GCA358065713BBS7c.694A>C (p.Ile232Leu)
c.697A>C (p.Ile233Leu)
c.742A>C (p.Ile248Leu)
c.739A>C (p.Ile247Leu)
4g.121854729T>ACA358065716BBS7c.693A>T (p.Glu231Asp)
c.696A>T (p.Glu232Asp)
c.741A>T (p.Glu247Asp)
c.738A>T (p.Glu246Asp)
4g.121854729T>CCA440922780BBS7c.693A>G (p.Glu231=)
c.696A>G (p.Glu232=)
c.741A>G (p.Glu247=)
c.738A>G (p.Glu246=)
4g.121854729T>GCA358065720BBS7c.693A>C (p.Glu231Asp)
c.696A>C (p.Glu232Asp)
c.741A>C (p.Glu247Asp)
c.738A>C (p.Glu246Asp)
4g.121854730T>ACA358065734BBS7c.692A>T (p.Glu231Val)
c.695A>T (p.Glu232Val)
c.740A>T (p.Glu247Val)
c.737A>T (p.Glu246Val)
4g.121854730T>CCA358065730BBS7c.692A>G (p.Glu231Gly)
c.695A>G (p.Glu232Gly)
c.740A>G (p.Glu247Gly)
c.737A>G (p.Glu246Gly)
 COSMIC
4g.121854730T>GCA358065723BBS7c.692A>C (p.Glu231Ala)
c.695A>C (p.Glu232Ala)
c.740A>C (p.Glu247Ala)
c.737A>C (p.Glu246Ala)
4g.121854731C>ACA358065744BBS7c.691G>T (p.Glu231Ter)
c.694G>T (p.Glu232Ter)
c.739G>T (p.Glu247Ter)
c.736G>T (p.Glu246Ter)
4g.121854731C>GCA358065736BBS7c.691G>C (p.Glu231Gln)
c.694G>C (p.Glu232Gln)
c.739G>C (p.Glu247Gln)
c.736G>C (p.Glu246Gln)
4g.121854731C>TCA358065740BBS7c.691G>A (p.Glu231Lys)
c.694G>A (p.Glu232Lys)
c.739G>A (p.Glu247Lys)
c.736G>A (p.Glu246Lys)
4g.121854732C>ACA358065747BBS7c.690G>T (p.Trp230Cys)
c.693G>T (p.Trp231Cys)
c.738G>T (p.Trp246Cys)
c.735G>T (p.Trp245Cys)
4g.121854732C=CA1490025978BBS7c.690G= (p.Trp230=)
c.693G= (p.Trp231=)
c.738G= (p.Trp246=)
c.735G= (p.Trp245=)
4g.121854732C>GCA358065751BBS7c.690G>C (p.Trp230Cys)
c.693G>C (p.Trp231Cys)
c.738G>C (p.Trp246Cys)
c.735G>C (p.Trp245Cys)
4g.121854732C>TCA3064433BBS7c.690G>A (p.Trp230Ter)
c.693G>A (p.Trp231Ter)
c.738G>A (p.Trp246Ter)
c.735G>A (p.Trp245Ter)
 ClinVar dbSNP ExAC gnomAD v2
4g.121854733C>ACA358065757BBS7c.689G>T (p.Trp230Leu)
c.692G>T (p.Trp231Leu)
c.737G>T (p.Trp246Leu)
c.734G>T (p.Trp245Leu)
4g.121854733C>GCA358065761BBS7c.689G>C (p.Trp230Ser)
c.692G>C (p.Trp231Ser)
c.737G>C (p.Trp246Ser)
c.734G>C (p.Trp245Ser)
4g.121854733C>TCA358065764BBS7c.689G>A (p.Trp230Ter)
c.692G>A (p.Trp231Ter)
c.737G>A (p.Trp246Ter)
c.734G>A (p.Trp245Ter)
4g.121854734A=CA1490025979BBS7c.688T= (p.Trp230=)
c.691T= (p.Trp231=)
c.736T= (p.Trp246=)
c.733T= (p.Trp245=)
4g.121854734A>CCA358065768BBS7c.688T>G (p.Trp230Gly)
c.691T>G (p.Trp231Gly)
c.736T>G (p.Trp246Gly)
c.733T>G (p.Trp245Gly)
4g.121854734A>GCA358065773BBS7c.688T>C (p.Trp230Arg)
c.691T>C (p.Trp231Arg)
c.736T>C (p.Trp246Arg)
c.733T>C (p.Trp245Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.121854734A>TCA358065777BBS7c.688T>A (p.Trp230Arg)
c.691T>A (p.Trp231Arg)
c.736T>A (p.Trp246Arg)
c.733T>A (p.Trp245Arg)
4g.121854735C>ACA358065780BBS7c.687G>T (p.Lys229Asn)
c.690G>T (p.Lys230Asn)
c.735G>T (p.Lys245Asn)
c.732G>T (p.Lys244Asn)
4g.121854735C>GCA358065782BBS7c.687G>C (p.Lys229Asn)
c.690G>C (p.Lys230Asn)
c.735G>C (p.Lys245Asn)
c.732G>C (p.Lys244Asn)
4g.121854735C>TCA440922781BBS7c.687G>A (p.Lys229=)
c.690G>A (p.Lys230=)
c.735G>A (p.Lys245=)
c.732G>A (p.Lys244=)
4g.121854736T>ACA358065795BBS7c.686A>T (p.Lys229Met)
c.689A>T (p.Lys230Met)
c.734A>T (p.Lys245Met)
c.731A>T (p.Lys244Met)
4g.121854736T>CCA358065787BBS7c.686A>G (p.Lys229Arg)
c.689A>G (p.Lys230Arg)
c.734A>G (p.Lys245Arg)
c.731A>G (p.Lys244Arg)
4g.121854736T>GCA358065789BBS7c.686A>C (p.Lys229Thr)
c.689A>C (p.Lys230Thr)
c.734A>C (p.Lys245Thr)
c.731A>C (p.Lys244Thr)
4g.121854737T>ACA358065799BBS7c.685A>T (p.Lys229Ter)
c.688A>T (p.Lys230Ter)
c.733A>T (p.Lys245Ter)
c.730A>T (p.Lys244Ter)
4g.121854737T>CCA358065802BBS7c.685A>G (p.Lys229Glu)
c.688A>G (p.Lys230Glu)
c.733A>G (p.Lys245Glu)
c.730A>G (p.Lys244Glu)
4g.121854737T>GCA358065805BBS7c.685A>C (p.Lys229Gln)
c.688A>C (p.Lys230Gln)
c.733A>C (p.Lys245Gln)
c.730A>C (p.Lys244Gln)
4g.121854738G>ACA440922782BBS7c.684C>T (p.Arg228=)
c.687C>T (p.Arg229=)
c.732C>T (p.Arg244=)
c.729C>T (p.Arg243=)
4g.121854738G>CCA440922783BBS7c.684C>G (p.Arg228=)
c.687C>G (p.Arg229=)
c.732C>G (p.Arg244=)
c.729C>G (p.Arg243=)
4g.121854738G=CA1490025980BBS7c.684C= (p.Arg228=)
c.687C= (p.Arg229=)
c.732C= (p.Arg244=)
c.729C= (p.Arg243=)
4g.121854738G>TCA440922784BBS7c.684C>A (p.Arg228=)
c.687C>A (p.Arg229=)
c.732C>A (p.Arg244=)
c.729C>A (p.Arg243=)
 dbSNP gnomAD v2
4g.121854739C>ACA3064435BBS7c.683G>T (p.Arg228Leu)
c.686G>T (p.Arg229Leu)
c.731G>T (p.Arg244Leu)
c.728G>T (p.Arg243Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.121854739C=CA1490025981BBS7c.683G= (p.Arg228=)
c.686G= (p.Arg229=)
c.731G= (p.Arg244=)
c.728G= (p.Arg243=)
4g.121854739C>GCA358065813BBS7c.683G>C (p.Arg228Pro)
c.686G>C (p.Arg229Pro)
c.731G>C (p.Arg244Pro)
c.728G>C (p.Arg243Pro)
4g.121854739C>TCA3064434BBS7c.683G>A (p.Arg228His)
c.686G>A (p.Arg229His)
c.731G>A (p.Arg244His)
c.728G>A (p.Arg243His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.121854740G>ACA358065818BBS7c.682C>T (p.Arg228Cys)
c.685C>T (p.Arg229Cys)
c.730C>T (p.Arg244Cys)
c.727C>T (p.Arg243Cys)
 ClinVar dbSNP gnomAD v4
4g.121854740G>CCA3064436BBS7c.682C>G (p.Arg228Gly)
c.685C>G (p.Arg229Gly)
c.730C>G (p.Arg244Gly)
c.727C>G (p.Arg243Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.121854740G=CA1490025982BBS7c.682C= (p.Arg228=)
c.685C= (p.Arg229=)
c.730C= (p.Arg244=)
c.727C= (p.Arg243=)
4g.121854740G>TCA358065821BBS7c.682C>A (p.Arg228Ser)
c.685C>A (p.Arg229Ser)
c.730C>A (p.Arg244Ser)
c.727C>A (p.Arg243Ser)
4g.121854741T>ACA440922785BBS7c.681A>T (p.Val227=)
c.684A>T (p.Val228=)
c.729A>T (p.Val243=)
c.726A>T (p.Val242=)
4g.121854741T>CCA440922786BBS7c.681A>G (p.Val227=)
c.684A>G (p.Val228=)
c.729A>G (p.Val243=)
c.726A>G (p.Val242=)
4g.121854741T>GCA440922787BBS7c.681A>C (p.Val227=)
c.684A>C (p.Val228=)
c.729A>C (p.Val243=)
c.726A>C (p.Val242=)
4g.121854742A=CA1490025983BBS7c.680T= (p.Val227=)
c.683T= (p.Val228=)
c.728T= (p.Val243=)
c.725T= (p.Val242=)
4g.121854742A>CCA358065825BBS7c.680T>G (p.Val227Gly)
c.683T>G (p.Val228Gly)
c.728T>G (p.Val243Gly)
c.725T>G (p.Val242Gly)
4g.121854742A>GCA358065827BBS7c.680T>C (p.Val227Ala)
c.683T>C (p.Val228Ala)
c.728T>C (p.Val243Ala)
c.725T>C (p.Val242Ala)
 dbSNP
4g.121854742A>TCA358065829BBS7c.680T>A (p.Val227Glu)
c.683T>A (p.Val228Glu)
c.728T>A (p.Val243Glu)
c.725T>A (p.Val242Glu)
4g.121854743C>ACA358065837BBS7c.679G>T (p.Val227Leu)
c.682G>T (p.Val228Leu)
c.727G>T (p.Val243Leu)
c.724G>T (p.Val242Leu)
4g.121854743C>GCA358065846BBS7c.679G>C (p.Val227Leu)
c.682G>C (p.Val228Leu)
c.727G>C (p.Val243Leu)
c.724G>C (p.Val242Leu)
4g.121854743C>TCA358065836BBS7c.679G>A (p.Val227Ile)
c.682G>A (p.Val228Ile)
c.727G>A (p.Val243Ile)
c.724G>A (p.Val242Ile)
4g.121854744T>ACA440922788BBS7c.678A>T (p.Pro226=)
c.681A>T (p.Pro227=)
c.726A>T (p.Pro242=)
c.723A>T (p.Pro241=)
4g.121854744T>CCA440922789BBS7c.678A>G (p.Pro226=)
c.681A>G (p.Pro227=)
c.726A>G (p.Pro242=)
c.723A>G (p.Pro241=)
4g.121854744T>GCA440922790BBS7c.678A>C (p.Pro226=)
c.681A>C (p.Pro227=)
c.726A>C (p.Pro242=)
c.723A>C (p.Pro241=)

Number of alleles fetched