Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.7128805delCA2587922466INSRc.2945+51del (n.2945+51del)
c.2909+51del (n.2909+51del)
c.3020+51del (n.3020+51del)
c.2984+51del (n.2984+51del)
c.2942+51del (n.2942+51del)
c.2906+51del (n.2906+51del)
gnomAD v4
19g.7128805C>TCA2587922467INSRc.2945+47G>A (n.2945+47G>A)
c.2909+47G>A (n.2909+47G>A)
c.3020+47G>A (n.3020+47G>A)
c.2984+47G>A (n.2984+47G>A)
c.2942+47G>A (n.2942+47G>A)
c.2906+47G>A (n.2906+47G>A)
gnomAD v4
19g.7128806A>GCA2587922468INSRc.2945+46T>C (n.2945+46T>C)
c.2909+46T>C (n.2909+46T>C)
c.3020+46T>C (n.3020+46T>C)
c.2984+46T>C (n.2984+46T>C)
c.2942+46T>C (n.2942+46T>C)
c.2906+46T>C (n.2906+46T>C)
gnomAD v4
19g.7128807G>ACA631693658INSRc.2945+45C>T (n.2945+45C>T)
c.2909+45C>T (n.2909+45C>T)
c.3020+45C>T (n.3020+45C>T)
c.2984+45C>T (n.2984+45C>T)
c.2942+45C>T (n.2942+45C>T)
c.2906+45C>T (n.2906+45C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7128807G=CA2320769433INSRc.2945+45C= (n.2945+45C=)
c.2909+45C= (n.2909+45C=)
c.3020+45C= (n.3020+45C=)
c.2984+45C= (n.2984+45C=)
c.2942+45C= (n.2942+45C=)
c.2906+45C= (n.2906+45C=)
19g.7128808A>GCA2576595071INSRc.2945+44T>C (n.2945+44T>C)
c.2909+44T>C (n.2909+44T>C)
c.3020+44T>C (n.3020+44T>C)
c.2984+44T>C (n.2984+44T>C)
c.2942+44T>C (n.2942+44T>C)
c.2906+44T>C (n.2906+44T>C)
gnomAD v4
19g.7128809G>ACA2813463005INSRc.2945+43C>T (n.2945+43C>T)
c.2909+43C>T (n.2909+43C>T)
c.3020+43C>T (n.3020+43C>T)
c.2984+43C>T (n.2984+43C>T)
c.2942+43C>T (n.2942+43C>T)
c.2906+43C>T (n.2906+43C>T)
19g.7128809G>TCA2576595072INSRc.2945+43C>A (n.2945+43C>A)
c.2909+43C>A (n.2909+43C>A)
c.3020+43C>A (n.3020+43C>A)
c.2984+43C>A (n.2984+43C>A)
c.2942+43C>A (n.2942+43C>A)
c.2906+43C>A (n.2906+43C>A)
gnomAD v4
19g.7128811A=CA2320769434INSRc.2945+41T= (n.2945+41T=)
c.2909+41T= (n.2909+41T=)
c.3020+41T= (n.3020+41T=)
c.2984+41T= (n.2984+41T=)
c.2942+41T= (n.2942+41T=)
c.2906+41T= (n.2906+41T=)
19g.7128811A>GCA2576595073INSRc.2945+41T>C (n.2945+41T>C)
c.2909+41T>C (n.2909+41T>C)
c.3020+41T>C (n.3020+41T>C)
c.2984+41T>C (n.2984+41T>C)
c.2942+41T>C (n.2942+41T>C)
c.2906+41T>C (n.2906+41T>C)
gnomAD v4
19g.7128811A>TCA9135411INSRc.2945+41T>A (n.2945+41T>A)
c.2909+41T>A (n.2909+41T>A)
c.3020+41T>A (n.3020+41T>A)
c.2984+41T>A (n.2984+41T>A)
c.2942+41T>A (n.2942+41T>A)
c.2906+41T>A (n.2906+41T>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7128812C=CA2320769435INSRc.2945+40G= (n.2945+40G=)
c.2909+40G= (n.2909+40G=)
c.3020+40G= (n.3020+40G=)
c.2984+40G= (n.2984+40G=)
c.2942+40G= (n.2942+40G=)
c.2906+40G= (n.2906+40G=)
19g.7128812C>GCA2320769436INSRc.2945+40G>C (n.2945+40G>C)
c.2909+40G>C (n.2909+40G>C)
c.3020+40G>C (n.3020+40G>C)
c.2984+40G>C (n.2984+40G>C)
c.2942+40G>C (n.2942+40G>C)
c.2906+40G>C (n.2906+40G>C)
dbSNP gnomAD v3 gnomAD v4
19g.7128812C>TCA9135412INSRc.2945+40G>A (n.2945+40G>A)
c.2909+40G>A (n.2909+40G>A)
c.3020+40G>A (n.3020+40G>A)
c.2984+40G>A (n.2984+40G>A)
c.2942+40G>A (n.2942+40G>A)
c.2906+40G>A (n.2906+40G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7128813C>GCA2587922469INSRc.2945+39G>C (n.2945+39G>C)
c.2909+39G>C (n.2909+39G>C)
c.3020+39G>C (n.3020+39G>C)
c.2984+39G>C (n.2984+39G>C)
c.2942+39G>C (n.2942+39G>C)
c.2906+39G>C (n.2906+39G>C)
gnomAD v4
19g.7128815_7128816insACACA2813463006INSRc.2945+37_2945+38insGTT (n.2945+37_2945+38insGTT)
c.2909+37_2909+38insGTT (n.2909+37_2909+38insGTT)
c.3020+37_3020+38insGTT (n.3020+37_3020+38insGTT)
c.2984+37_2984+38insGTT (n.2984+37_2984+38insGTT)
c.2942+37_2942+38insGTT (n.2942+37_2942+38insGTT)
c.2906+37_2906+38insGTT (n.2906+37_2906+38insGTT)
19g.7128816C>GCA2587922470INSRc.2945+36G>C (n.2945+36G>C)
c.2909+36G>C (n.2909+36G>C)
c.3020+36G>C (n.3020+36G>C)
c.2984+36G>C (n.2984+36G>C)
c.2942+36G>C (n.2942+36G>C)
c.2906+36G>C (n.2906+36G>C)
gnomAD v4
19g.7128816C>TCA2587922471INSRc.2945+36G>A (n.2945+36G>A)
c.2909+36G>A (n.2909+36G>A)
c.3020+36G>A (n.3020+36G>A)
c.2984+36G>A (n.2984+36G>A)
c.2942+36G>A (n.2942+36G>A)
c.2906+36G>A (n.2906+36G>A)
gnomAD v4
19g.7128818_7128820delCA2813463007INSRc.2945+33_2945+35del (n.2945+33_2945+35del)
c.2909+33_2909+35del (n.2909+33_2909+35del)
c.3020+33_3020+35del (n.3020+33_3020+35del)
c.2984+33_2984+35del (n.2984+33_2984+35del)
c.2942+33_2942+35del (n.2942+33_2942+35del)
c.2906+33_2906+35del (n.2906+33_2906+35del)
19g.7128818G>ACA2576595074INSRc.2945+34C>T (n.2945+34C>T)
c.2909+34C>T (n.2909+34C>T)
c.3020+34C>T (n.3020+34C>T)
c.2984+34C>T (n.2984+34C>T)
c.2942+34C>T (n.2942+34C>T)
c.2906+34C>T (n.2906+34C>T)
19g.7128818G>TCA2587922472INSRc.2945+34C>A (n.2945+34C>A)
c.2909+34C>A (n.2909+34C>A)
c.3020+34C>A (n.3020+34C>A)
c.2984+34C>A (n.2984+34C>A)
c.2942+34C>A (n.2942+34C>A)
c.2906+34C>A (n.2906+34C>A)
gnomAD v4
19g.7128819T>CCA304875970INSRc.2945+33A>G (n.2945+33A>G)
c.2909+33A>G (n.2909+33A>G)
c.3020+33A>G (n.3020+33A>G)
c.2984+33A>G (n.2984+33A>G)
c.2942+33A>G (n.2942+33A>G)
c.2906+33A>G (n.2906+33A>G)
dbSNP gnomAD v4
19g.7128819T=CA2320769437INSRc.2945+33A= (n.2945+33A=)
c.2909+33A= (n.2909+33A=)
c.3020+33A= (n.3020+33A=)
c.2984+33A= (n.2984+33A=)
c.2942+33A= (n.2942+33A=)
c.2906+33A= (n.2906+33A=)
19g.7128820T>ACA2813463008INSRc.2945+32A>T (n.2945+32A>T)
c.2909+32A>T (n.2909+32A>T)
c.3020+32A>T (n.3020+32A>T)
c.2984+32A>T (n.2984+32A>T)
c.2942+32A>T (n.2942+32A>T)
c.2906+32A>T (n.2906+32A>T)
19g.7128821C=CA2320769438INSRc.2945+31G= (n.2945+31G=)
c.2909+31G= (n.2909+31G=)
c.3020+31G= (n.3020+31G=)
c.2984+31G= (n.2984+31G=)
c.2942+31G= (n.2942+31G=)
c.2906+31G= (n.2906+31G=)
19g.7128821C>GCA2320769439INSRc.2945+31G>C (n.2945+31G>C)
c.2909+31G>C (n.2909+31G>C)
c.3020+31G>C (n.3020+31G>C)
c.2984+31G>C (n.2984+31G>C)
c.2942+31G>C (n.2942+31G>C)
c.2906+31G>C (n.2906+31G>C)
dbSNP
19g.7128821C>TCA2587922473INSRc.2945+31G>A (n.2945+31G>A)
c.2909+31G>A (n.2909+31G>A)
c.3020+31G>A (n.3020+31G>A)
c.2984+31G>A (n.2984+31G>A)
c.2942+31G>A (n.2942+31G>A)
c.2906+31G>A (n.2906+31G>A)
gnomAD v4
19g.7128822C=CA2320769440INSRc.2945+30G= (n.2945+30G=)
c.2909+30G= (n.2909+30G=)
c.3020+30G= (n.3020+30G=)
c.2984+30G= (n.2984+30G=)
c.2942+30G= (n.2942+30G=)
c.2906+30G= (n.2906+30G=)
19g.7128822C>TCA631693662INSRc.2945+30G>A (n.2945+30G>A)
c.2909+30G>A (n.2909+30G>A)
c.3020+30G>A (n.3020+30G>A)
c.2984+30G>A (n.2984+30G>A)
c.2942+30G>A (n.2942+30G>A)
c.2906+30G>A (n.2906+30G>A)
dbSNP gnomAD v2 gnomAD v4
19g.7128823C>ACA2587922474INSRc.2945+29G>T (n.2945+29G>T)
c.2909+29G>T (n.2909+29G>T)
c.3020+29G>T (n.3020+29G>T)
c.2984+29G>T (n.2984+29G>T)
c.2942+29G>T (n.2942+29G>T)
c.2906+29G>T (n.2906+29G>T)
gnomAD v4
19g.7128823C=CA2320769441INSRc.2945+29G= (n.2945+29G=)
c.2909+29G= (n.2909+29G=)
c.3020+29G= (n.3020+29G=)
c.2984+29G= (n.2984+29G=)
c.2942+29G= (n.2942+29G=)
c.2906+29G= (n.2906+29G=)
19g.7128823C>GCA9135413INSRc.2945+29G>C (n.2945+29G>C)
c.2909+29G>C (n.2909+29G>C)
c.3020+29G>C (n.3020+29G>C)
c.2984+29G>C (n.2984+29G>C)
c.2942+29G>C (n.2942+29G>C)
c.2906+29G>C (n.2906+29G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7128824A=CA2320769442INSRc.2945+28T= (n.2945+28T=)
c.2909+28T= (n.2909+28T=)
c.3020+28T= (n.3020+28T=)
c.2984+28T= (n.2984+28T=)
c.2942+28T= (n.2942+28T=)
c.2906+28T= (n.2906+28T=)
19g.7128824A>GCA884178092INSRc.2945+28T>C (n.2945+28T>C)
c.2909+28T>C (n.2909+28T>C)
c.3020+28T>C (n.3020+28T>C)
c.2984+28T>C (n.2984+28T>C)
c.2942+28T>C (n.2942+28T>C)
c.2906+28T>C (n.2906+28T>C)
dbSNP
19g.7128825G>ACA2813463009INSRc.2945+27C>T (n.2945+27C>T)
c.2909+27C>T (n.2909+27C>T)
c.3020+27C>T (n.3020+27C>T)
c.2984+27C>T (n.2984+27C>T)
c.2942+27C>T (n.2942+27C>T)
c.2906+27C>T (n.2906+27C>T)
19g.7128825G>TCA2587922475INSRc.2945+27C>A (n.2945+27C>A)
c.2909+27C>A (n.2909+27C>A)
c.3020+27C>A (n.3020+27C>A)
c.2984+27C>A (n.2984+27C>A)
c.2942+27C>A (n.2942+27C>A)
c.2906+27C>A (n.2906+27C>A)
gnomAD v4
19g.7128826C=CA2320769443INSRc.2945+26G= (n.2945+26G=)
c.2909+26G= (n.2909+26G=)
c.3020+26G= (n.3020+26G=)
c.2984+26G= (n.2984+26G=)
c.2942+26G= (n.2942+26G=)
c.2906+26G= (n.2906+26G=)
19g.7128826C>TCA884178093INSRc.2945+26G>A (n.2945+26G>A)
c.2909+26G>A (n.2909+26G>A)
c.3020+26G>A (n.3020+26G>A)
c.2984+26G>A (n.2984+26G>A)
c.2942+26G>A (n.2942+26G>A)
c.2906+26G>A (n.2906+26G>A)
dbSNP gnomAD v4
19g.7128827A>CCA2813463010INSRc.2945+25T>G (n.2945+25T>G)
c.2909+25T>G (n.2909+25T>G)
c.3020+25T>G (n.3020+25T>G)
c.2984+25T>G (n.2984+25T>G)
c.2942+25T>G (n.2942+25T>G)
c.2906+25T>G (n.2906+25T>G)
19g.7128828C>TCA2587922476INSRc.2945+24G>A (n.2945+24G>A)
c.2909+24G>A (n.2909+24G>A)
c.3020+24G>A (n.3020+24G>A)
c.2984+24G>A (n.2984+24G>A)
c.2942+24G>A (n.2942+24G>A)
c.2906+24G>A (n.2906+24G>A)
gnomAD v4
19g.7128830C>ACA9135414INSRc.2945+22G>T (n.2945+22G>T)
c.2909+22G>T (n.2909+22G>T)
c.3020+22G>T (n.3020+22G>T)
c.2984+22G>T (n.2984+22G>T)
c.2942+22G>T (n.2942+22G>T)
c.2906+22G>T (n.2906+22G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7128830C=CA2320769444INSRc.2945+22G= (n.2945+22G=)
c.2909+22G= (n.2909+22G=)
c.3020+22G= (n.3020+22G=)
c.2984+22G= (n.2984+22G=)
c.2942+22G= (n.2942+22G=)
c.2906+22G= (n.2906+22G=)
19g.7128831C=CA2320769445INSRc.2945+21G= (n.2945+21G=)
c.2909+21G= (n.2909+21G=)
c.3020+21G= (n.3020+21G=)
c.2984+21G= (n.2984+21G=)
c.2942+21G= (n.2942+21G=)
c.2906+21G= (n.2906+21G=)
19g.7128831C>TCA2320769446INSRc.2945+21G>A (n.2945+21G>A)
c.2909+21G>A (n.2909+21G>A)
c.3020+21G>A (n.3020+21G>A)
c.2984+21G>A (n.2984+21G>A)
c.2942+21G>A (n.2942+21G>A)
c.2906+21G>A (n.2906+21G>A)
dbSNP
19g.7128837_7128838insATCACTGAACA2576595076INSRc.2945+21_2945+22insATTTCAGTG (n.2945+21_2945+22insATTTCAGTG)
c.2909+21_2909+22insATTTCAGTG (n.2909+21_2909+22insATTTCAGTG)
c.3020+21_3020+22insATTTCAGTG (n.3020+21_3020+22insATTTCAGTG)
c.2984+21_2984+22insATTTCAGTG (n.2984+21_2984+22insATTTCAGTG)
c.2942+21_2942+22insATTTCAGTG (n.2942+21_2942+22insATTTCAGTG)
c.2906+21_2906+22insATTTCAGTG (n.2906+21_2906+22insATTTCAGTG)
gnomAD v4
19g.7128843_7128851dupCA2587922477INSRc.2945+13_2945+21dup (n.2945+13_2945+21dup)
c.2909+13_2909+21dup (n.2909+13_2909+21dup)
c.3020+13_3020+21dup (n.3020+13_3020+21dup)
c.2984+13_2984+21dup (n.2984+13_2984+21dup)
c.2942+13_2942+21dup (n.2942+13_2942+21dup)
c.2906+13_2906+21dup (n.2906+13_2906+21dup)
gnomAD v4
19g.7128843_7128851delCA2576595075INSRc.2945+13_2945+21del (n.2945+13_2945+21del)
c.2909+13_2909+21del (n.2909+13_2909+21del)
c.3020+13_3020+21del (n.3020+13_3020+21del)
c.2984+13_2984+21del (n.2984+13_2984+21del)
c.2942+13_2942+21del (n.2942+13_2942+21del)
c.2906+13_2906+21del (n.2906+13_2906+21del)
gnomAD v4
19g.7128833C=CA2320769447INSRc.2945+19G= (n.2945+19G=)
c.2909+19G= (n.2909+19G=)
c.3020+19G= (n.3020+19G=)
c.2984+19G= (n.2984+19G=)
c.2942+19G= (n.2942+19G=)
c.2906+19G= (n.2906+19G=)
19g.7128833C>TCA304875974INSRc.2945+19G>A (n.2945+19G>A)
c.2909+19G>A (n.2909+19G>A)
c.3020+19G>A (n.3020+19G>A)
c.2984+19G>A (n.2984+19G>A)
c.2942+19G>A (n.2942+19G>A)
c.2906+19G>A (n.2906+19G>A)
dbSNP
19g.7128834T>CCA2587922478INSRc.2945+18A>G (n.2945+18A>G)
c.2909+18A>G (n.2909+18A>G)
c.3020+18A>G (n.3020+18A>G)
c.2984+18A>G (n.2984+18A>G)
c.2942+18A>G (n.2942+18A>G)
c.2906+18A>G (n.2906+18A>G)
gnomAD v4
19g.7128835G>TCA2576595077INSRc.2945+17C>A (n.2945+17C>A)
c.2909+17C>A (n.2909+17C>A)
c.3020+17C>A (n.3020+17C>A)
c.2984+17C>A (n.2984+17C>A)
c.2942+17C>A (n.2942+17C>A)
c.2906+17C>A (n.2906+17C>A)
gnomAD v4
19g.7128836A>TCA2587922479INSRc.2945+16T>A (n.2945+16T>A)
c.2909+16T>A (n.2909+16T>A)
c.3020+16T>A (n.3020+16T>A)
c.2984+16T>A (n.2984+16T>A)
c.2942+16T>A (n.2942+16T>A)
c.2906+16T>A (n.2906+16T>A)
gnomAD v4
19g.7128838C>TCA2587922480INSRc.2945+14G>A (n.2945+14G>A)
c.2909+14G>A (n.2909+14G>A)
c.3020+14G>A (n.3020+14G>A)
c.2984+14G>A (n.2984+14G>A)
c.2942+14G>A (n.2942+14G>A)
c.2906+14G>A (n.2906+14G>A)
gnomAD v4
19g.7128839T>GCA2320769449INSRc.2945+13A>C (n.2945+13A>C)
c.2909+13A>C (n.2909+13A>C)
c.3020+13A>C (n.3020+13A>C)
c.2984+13A>C (n.2984+13A>C)
c.2942+13A>C (n.2942+13A>C)
c.2906+13A>C (n.2906+13A>C)
dbSNP
19g.7128839T=CA2320769448INSRc.2945+13A= (n.2945+13A=)
c.2909+13A= (n.2909+13A=)
c.3020+13A= (n.3020+13A=)
c.2984+13A= (n.2984+13A=)
c.2942+13A= (n.2942+13A=)
c.2906+13A= (n.2906+13A=)
19g.7128840C>ACA2587922481INSRc.2945+12G>T (n.2945+12G>T)
c.2909+12G>T (n.2909+12G>T)
c.3020+12G>T (n.3020+12G>T)
c.2984+12G>T (n.2984+12G>T)
c.2942+12G>T (n.2942+12G>T)
c.2906+12G>T (n.2906+12G>T)
gnomAD v4
19g.7128841A>GCA2587922482INSRc.2945+11T>C (n.2945+11T>C)
c.2909+11T>C (n.2909+11T>C)
c.3020+11T>C (n.3020+11T>C)
c.2984+11T>C (n.2984+11T>C)
c.2942+11T>C (n.2942+11T>C)
c.2906+11T>C (n.2906+11T>C)
gnomAD v4
19g.7128843T>CCA9135415INSRc.2945+9A>G (n.2945+9A>G)
c.2909+9A>G (n.2909+9A>G)
c.3020+9A>G (n.3020+9A>G)
c.2984+9A>G (n.2984+9A>G)
c.2942+9A>G (n.2942+9A>G)
c.2906+9A>G (n.2906+9A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7128843T=CA2320769450INSRc.2945+9A= (n.2945+9A=)
c.2909+9A= (n.2909+9A=)
c.3020+9A= (n.3020+9A=)
c.2984+9A= (n.2984+9A=)
c.2942+9A= (n.2942+9A=)
c.2906+9A= (n.2906+9A=)
19g.7128844G>ACA304875990INSRc.2945+8C>T (n.2945+8C>T)
c.2909+8C>T (n.2909+8C>T)
c.3020+8C>T (n.3020+8C>T)
c.2984+8C>T (n.2984+8C>T)
c.2942+8C>T (n.2942+8C>T)
c.2906+8C>T (n.2906+8C>T)
dbSNP
19g.7128844G=CA2320769451INSRc.2945+8C= (n.2945+8C=)
c.2909+8C= (n.2909+8C=)
c.3020+8C= (n.3020+8C=)
c.2984+8C= (n.2984+8C=)
c.2942+8C= (n.2942+8C=)
c.2906+8C= (n.2906+8C=)
19g.7128844G>TCA2576595078INSRc.2945+8C>A (n.2945+8C>A)
c.2909+8C>A (n.2909+8C>A)
c.3020+8C>A (n.3020+8C>A)
c.2984+8C>A (n.2984+8C>A)
c.2942+8C>A (n.2942+8C>A)
c.2906+8C>A (n.2906+8C>A)
gnomAD v4
19g.7128846A>GCA2576595079INSRc.2945+6T>C (n.2945+6T>C)
c.2909+6T>C (n.2909+6T>C)
c.3020+6T>C (n.3020+6T>C)
c.2984+6T>C (n.2984+6T>C)
c.2942+6T>C (n.2942+6T>C)
c.2906+6T>C (n.2906+6T>C)
19g.7128849C=CA2320769452INSRc.2945+3G= (n.2945+3G=)
c.2909+3G= (n.2909+3G=)
c.3020+3G= (n.3020+3G=)
c.2984+3G= (n.2984+3G=)
c.2942+3G= (n.2942+3G=)
c.2906+3G= (n.2906+3G=)
19g.7128849C>TCA9135416INSRc.2945+3G>A (n.2945+3G>A)
c.2909+3G>A (n.2909+3G>A)
c.3020+3G>A (n.3020+3G>A)
c.2984+3G>A (n.2984+3G>A)
c.2942+3G>A (n.2942+3G>A)
c.2906+3G>A (n.2906+3G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7128850A=CA2320769453INSRc.2945+2T= (n.2945+2T=)
c.2909+2T= (n.2909+2T=)
c.3020+2T= (n.3020+2T=)
c.2984+2T= (n.2984+2T=)
c.2942+2T= (n.2942+2T=)
c.2906+2T= (n.2906+2T=)
19g.7128850A>CCA304875995INSRc.2945+2T>G (n.2945+2T>G)
c.2909+2T>G (n.2909+2T>G)
c.3020+2T>G (n.3020+2T>G)
c.2984+2T>G (n.2984+2T>G)
c.2942+2T>G (n.2942+2T>G)
c.2906+2T>G (n.2906+2T>G)
dbSNP
19g.7128850A>GCA403671655INSRc.2945+2T>C (n.2945+2T>C)
c.2909+2T>C (n.2909+2T>C)
c.3020+2T>C (n.3020+2T>C)
c.2984+2T>C (n.2984+2T>C)
c.2942+2T>C (n.2942+2T>C)
c.2906+2T>C (n.2906+2T>C)
19g.7128850A>TCA403671654INSRc.2945+2T>A (n.2945+2T>A)
c.2909+2T>A (n.2909+2T>A)
c.3020+2T>A (n.3020+2T>A)
c.2984+2T>A (n.2984+2T>A)
c.2942+2T>A (n.2942+2T>A)
c.2906+2T>A (n.2906+2T>A)
19g.7128851C>ACA403671656INSRc.2945+1G>T (n.2945+1G>T)
c.2909+1G>T (n.2909+1G>T)
c.3020+1G>T (n.3020+1G>T)
c.2984+1G>T (n.2984+1G>T)
c.2942+1G>T (n.2942+1G>T)
c.2906+1G>T (n.2906+1G>T)
19g.7128851C=CA2320769454INSRc.2945+1G= (n.2945+1G=)
c.2909+1G= (n.2909+1G=)
c.3020+1G= (n.3020+1G=)
c.2984+1G= (n.2984+1G=)
c.2942+1G= (n.2942+1G=)
c.2906+1G= (n.2906+1G=)
19g.7128851C>GCA403671657INSRc.2945+1G>C (n.2945+1G>C)
c.2909+1G>C (n.2909+1G>C)
c.3020+1G>C (n.3020+1G>C)
c.2984+1G>C (n.2984+1G>C)
c.2942+1G>C (n.2942+1G>C)
c.2906+1G>C (n.2906+1G>C)
19g.7128851C>TCA304875999INSRc.2945+1G>A (n.2945+1G>A)
c.2909+1G>A (n.2909+1G>A)
c.3020+1G>A (n.3020+1G>A)
c.2984+1G>A (n.2984+1G>A)
c.2942+1G>A (n.2942+1G>A)
c.2906+1G>A (n.2906+1G>A)
dbSNP gnomAD v3 gnomAD v4
19g.7128852C>ACA403671658INSRc.2945G>T (p.Arg982Met)
c.2909G>T (p.Arg970Met)
c.3020G>T (p.Arg1007Met)
c.2984G>T (p.Arg995Met)
c.2942G>T (p.Arg981Met)
c.2906G>T (p.Arg969Met)
19g.7128852C>GCA403671659INSRc.2945G>C (p.Arg982Thr)
c.2909G>C (p.Arg970Thr)
c.3020G>C (p.Arg1007Thr)
c.2984G>C (p.Arg995Thr)
c.2942G>C (p.Arg981Thr)
c.2906G>C (p.Arg969Thr)
19g.7128852C>TCA403671660INSRc.2945G>A (p.Arg982Lys)
c.2909G>A (p.Arg970Lys)
c.3020G>A (p.Arg1007Lys)
c.2984G>A (p.Arg995Lys)
c.2942G>A (p.Arg981Lys)
c.2906G>A (p.Arg969Lys)
19g.7128854_7128855delCA2695228021INSRc.2944_2945del (p.Arg982AlafsTer16)
c.2908_2909del (p.Arg970AlafsTer16)
c.3019_3020del (p.Arg1007AlafsTer16)
c.2983_2984del (p.Arg995AlafsTer16)
c.2941_2942del (p.Arg981AlafsTer16)
c.2905_2906del (p.Arg969AlafsTer16)
19g.7128853T>ACA403671661INSRc.2944A>T (p.Arg982Trp)
c.2908A>T (p.Arg970Trp)
c.3019A>T (p.Arg1007Trp)
c.2983A>T (p.Arg995Trp)
c.2941A>T (p.Arg981Trp)
c.2905A>T (p.Arg969Trp)
dbSNP gnomAD v4
19g.7128853T>CCA403671662INSRc.2944A>G (p.Arg982Gly)
c.2908A>G (p.Arg970Gly)
c.3019A>G (p.Arg1007Gly)
c.2983A>G (p.Arg995Gly)
c.2941A>G (p.Arg981Gly)
c.2905A>G (p.Arg969Gly)
19g.7128853T>GCA505217359INSRc.2944A>C (p.Arg982=)
c.2908A>C (p.Arg970=)
c.3019A>C (p.Arg1007=)
c.2983A>C (p.Arg995=)
c.2941A>C (p.Arg981=)
c.2905A>C (p.Arg969=)
19g.7128853T=CA2320769455INSRc.2944A= (p.Arg982=)
c.2908A= (p.Arg970=)
c.3019A= (p.Arg1007=)
c.2983A= (p.Arg995=)
c.2941A= (p.Arg981=)
c.2905A= (p.Arg969=)
19g.7128854C>ACA403671663INSRc.2943G>T (p.Lys981Asn)
c.2907G>T (p.Lys969Asn)
c.3018G>T (p.Lys1006Asn)
c.2982G>T (p.Lys994Asn)
c.2940G>T (p.Lys980Asn)
c.2904G>T (p.Lys968Asn)
19g.7128854C=CA2320769456INSRc.2943G= (p.Lys981=)
c.2907G= (p.Lys969=)
c.3018G= (p.Lys1006=)
c.2982G= (p.Lys994=)
c.2940G= (p.Lys980=)
c.2904G= (p.Lys968=)
19g.7128854C>GCA304876004INSRc.2943G>C (p.Lys981Asn)
c.2907G>C (p.Lys969Asn)
c.3018G>C (p.Lys1006Asn)
c.2982G>C (p.Lys994Asn)
c.2940G>C (p.Lys980Asn)
c.2904G>C (p.Lys968Asn)
dbSNP
19g.7128854C>TCA505217360INSRc.2943G>A (p.Lys981=)
c.2907G>A (p.Lys969=)
c.3018G>A (p.Lys1006=)
c.2982G>A (p.Lys994=)
c.2940G>A (p.Lys980=)
c.2904G>A (p.Lys968=)
19g.7128855T>ACA403671664INSRc.2942A>T (p.Lys981Met)
c.2906A>T (p.Lys969Met)
c.3017A>T (p.Lys1006Met)
c.2981A>T (p.Lys994Met)
c.2939A>T (p.Lys980Met)
c.2903A>T (p.Lys968Met)
19g.7128855T>CCA403671665INSRc.2942A>G (p.Lys981Arg)
c.2906A>G (p.Lys969Arg)
c.3017A>G (p.Lys1006Arg)
c.2981A>G (p.Lys994Arg)
c.2939A>G (p.Lys980Arg)
c.2903A>G (p.Lys968Arg)
19g.7128855T>GCA403671666INSRc.2942A>C (p.Lys981Thr)
c.2906A>C (p.Lys969Thr)
c.3017A>C (p.Lys1006Thr)
c.2981A>C (p.Lys994Thr)
c.2939A>C (p.Lys980Thr)
c.2903A>C (p.Lys968Thr)
19g.7128856T>ACA403671667INSRc.2941A>T (p.Lys981Ter)
c.2905A>T (p.Lys969Ter)
c.3016A>T (p.Lys1006Ter)
c.2980A>T (p.Lys994Ter)
c.2938A>T (p.Lys980Ter)
c.2902A>T (p.Lys968Ter)
19g.7128856T>CCA403671669INSRc.2941A>G (p.Lys981Glu)
c.2905A>G (p.Lys969Glu)
c.3016A>G (p.Lys1006Glu)
c.2980A>G (p.Lys994Glu)
c.2938A>G (p.Lys980Glu)
c.2902A>G (p.Lys968Glu)
19g.7128856T>GCA403671668INSRc.2941A>C (p.Lys981Gln)
c.2905A>C (p.Lys969Gln)
c.3016A>C (p.Lys1006Gln)
c.2980A>C (p.Lys994Gln)
c.2938A>C (p.Lys980Gln)
c.2902A>C (p.Lys968Gln)
19g.7128857T>ACA403671670INSRc.2940A>T (p.Arg980Ser)
c.2904A>T (p.Arg968Ser)
c.3015A>T (p.Arg1005Ser)
c.2979A>T (p.Arg993Ser)
c.2937A>T (p.Arg979Ser)
c.2901A>T (p.Arg967Ser)
19g.7128857T>CCA9135417INSRc.2940A>G (p.Arg980=)
c.2904A>G (p.Arg968=)
c.3015A>G (p.Arg1005=)
c.2979A>G (p.Arg993=)
c.2937A>G (p.Arg979=)
c.2901A>G (p.Arg967=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7128857T>GCA403671671INSRc.2940A>C (p.Arg980Ser)
c.2904A>C (p.Arg968Ser)
c.3015A>C (p.Arg1005Ser)
c.2979A>C (p.Arg993Ser)
c.2937A>C (p.Arg979Ser)
c.2901A>C (p.Arg967Ser)
19g.7128857T=CA2320769457INSRc.2940A= (p.Arg980=)
c.2904A= (p.Arg968=)
c.3015A= (p.Arg1005=)
c.2979A= (p.Arg993=)
c.2937A= (p.Arg979=)
c.2901A= (p.Arg967=)
19g.7128858C>ACA403671672INSRc.2939G>T (p.Arg980Ile)
c.2903G>T (p.Arg968Ile)
c.3014G>T (p.Arg1005Ile)
c.2978G>T (p.Arg993Ile)
c.2936G>T (p.Arg979Ile)
c.2900G>T (p.Arg967Ile)
19g.7128858C>GCA403671674INSRc.2939G>C (p.Arg980Thr)
c.2903G>C (p.Arg968Thr)
c.3014G>C (p.Arg1005Thr)
c.2978G>C (p.Arg993Thr)
c.2936G>C (p.Arg979Thr)
c.2900G>C (p.Arg967Thr)
19g.7128858C>TCA403671673INSRc.2939G>A (p.Arg980Lys)
c.2903G>A (p.Arg968Lys)
c.3014G>A (p.Arg1005Lys)
c.2978G>A (p.Arg993Lys)
c.2936G>A (p.Arg979Lys)
c.2900G>A (p.Arg967Lys)
19g.7128859T>ACA403671675INSRc.2938A>T (p.Arg980Ter)
c.2902A>T (p.Arg968Ter)
c.3013A>T (p.Arg1005Ter)
c.2977A>T (p.Arg993Ter)
c.2935A>T (p.Arg979Ter)
c.2899A>T (p.Arg967Ter)
19g.7128859T>CCA403671676INSRc.2938A>G (p.Arg980Gly)
c.2902A>G (p.Arg968Gly)
c.3013A>G (p.Arg1005Gly)
c.2977A>G (p.Arg993Gly)
c.2935A>G (p.Arg979Gly)
c.2899A>G (p.Arg967Gly)
19g.7128859T>GCA505217361INSRc.2938A>C (p.Arg980=)
c.2902A>C (p.Arg968=)
c.3013A>C (p.Arg1005=)
c.2977A>C (p.Arg993=)
c.2935A>C (p.Arg979=)
c.2899A>C (p.Arg967=)
19g.7128860C>ACA505217364INSRc.2937G>T (p.Leu979=)
c.2901G>T (p.Leu967=)
c.3012G>T (p.Leu1004=)
c.2976G>T (p.Leu992=)
c.2934G>T (p.Leu978=)
c.2898G>T (p.Leu966=)
19g.7128860C=CA2320769458INSRc.2937G= (p.Leu979=)
c.2901G= (p.Leu967=)
c.3012G= (p.Leu1004=)
c.2976G= (p.Leu992=)
c.2934G= (p.Leu978=)
c.2898G= (p.Leu966=)
19g.7128860C>GCA505217363INSRc.2937G>C (p.Leu979=)
c.2901G>C (p.Leu967=)
c.3012G>C (p.Leu1004=)
c.2976G>C (p.Leu992=)
c.2934G>C (p.Leu978=)
c.2898G>C (p.Leu966=)
gnomAD v4
19g.7128860C>TCA505217362INSRc.2937G>A (p.Leu979=)
c.2901G>A (p.Leu967=)
c.3012G>A (p.Leu1004=)
c.2976G>A (p.Leu992=)
c.2934G>A (p.Leu978=)
c.2898G>A (p.Leu966=)
dbSNP gnomAD v3 gnomAD v4
19g.7128861A=CA2320769459INSRc.2936T= (p.Leu979=)
c.2900T= (p.Leu967=)
c.3011T= (p.Leu1004=)
c.2975T= (p.Leu992=)
c.2933T= (p.Leu978=)
c.2897T= (p.Leu966=)
19g.7128861A>CCA403671677INSRc.2936T>G (p.Leu979Arg)
c.2900T>G (p.Leu967Arg)
c.3011T>G (p.Leu1004Arg)
c.2975T>G (p.Leu992Arg)
c.2933T>G (p.Leu978Arg)
c.2897T>G (p.Leu966Arg)
19g.7128861A>GCA403671678INSRc.2936T>C (p.Leu979Pro)
c.2900T>C (p.Leu967Pro)
c.3011T>C (p.Leu1004Pro)
c.2975T>C (p.Leu992Pro)
c.2933T>C (p.Leu978Pro)
c.2897T>C (p.Leu966Pro)
dbSNP gnomAD v4
19g.7128861A>TCA403671679INSRc.2936T>A (p.Leu979Gln)
c.2900T>A (p.Leu967Gln)
c.3011T>A (p.Leu1004Gln)
c.2975T>A (p.Leu992Gln)
c.2933T>A (p.Leu978Gln)
c.2897T>A (p.Leu966Gln)
19g.7128862G>ACA505217365INSRc.2935C>T (p.Leu979=)
c.2899C>T (p.Leu967=)
c.3010C>T (p.Leu1004=)
c.2974C>T (p.Leu992=)
c.2932C>T (p.Leu978=)
c.2896C>T (p.Leu966=)
19g.7128862G>CCA403671680INSRc.2935C>G (p.Leu979Val)
c.2899C>G (p.Leu967Val)
c.3010C>G (p.Leu1004Val)
c.2974C>G (p.Leu992Val)
c.2932C>G (p.Leu978Val)
c.2896C>G (p.Leu966Val)
19g.7128862G>TCA403671681INSRc.2935C>A (p.Leu979Met)
c.2899C>A (p.Leu967Met)
c.3010C>A (p.Leu1004Met)
c.2974C>A (p.Leu992Met)
c.2932C>A (p.Leu978Met)
c.2896C>A (p.Leu966Met)
19g.7128863G>ACA505217366INSRc.2934C>T (p.Phe978=)
c.2898C>T (p.Phe966=)
c.3009C>T (p.Phe1003=)
c.2973C>T (p.Phe991=)
c.2931C>T (p.Phe977=)
c.2895C>T (p.Phe965=)
19g.7128863G>CCA403671682INSRc.2934C>G (p.Phe978Leu)
c.2898C>G (p.Phe966Leu)
c.3009C>G (p.Phe1003Leu)
c.2973C>G (p.Phe991Leu)
c.2931C>G (p.Phe977Leu)
c.2895C>G (p.Phe965Leu)
19g.7128863G>TCA403671683INSRc.2934C>A (p.Phe978Leu)
c.2898C>A (p.Phe966Leu)
c.3009C>A (p.Phe1003Leu)
c.2973C>A (p.Phe991Leu)
c.2931C>A (p.Phe977Leu)
c.2895C>A (p.Phe965Leu)
19g.7128864A=CA2320769460INSRc.2933T= (p.Phe978=)
c.2897T= (p.Phe966=)
c.3008T= (p.Phe1003=)
c.2972T= (p.Phe991=)
c.2930T= (p.Phe977=)
c.2894T= (p.Phe965=)
19g.7128864A>CCA403671684INSRc.2933T>G (p.Phe978Cys)
c.2897T>G (p.Phe966Cys)
c.3008T>G (p.Phe1003Cys)
c.2972T>G (p.Phe991Cys)
c.2930T>G (p.Phe977Cys)
c.2894T>G (p.Phe965Cys)
19g.7128864A>GCA403671685INSRc.2933T>C (p.Phe978Ser)
c.2897T>C (p.Phe966Ser)
c.3008T>C (p.Phe1003Ser)
c.2972T>C (p.Phe991Ser)
c.2930T>C (p.Phe977Ser)
c.2894T>C (p.Phe965Ser)
19g.7128864A>TCA10652868INSRc.2933T>A (p.Phe978Tyr)
c.2897T>A (p.Phe966Tyr)
c.3008T>A (p.Phe1003Tyr)
c.2972T>A (p.Phe991Tyr)
c.2930T>A (p.Phe977Tyr)
c.2894T>A (p.Phe965Tyr)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.7128864_7128868delinsAATAGCA2320769461INSRc.2929_2933delinsCTATT (p.Leu977=)
c.2893_2897delinsCTATT (p.Leu965=)
c.3004_3008delinsCTATT (p.Leu1002=)
c.2968_2972delinsCTATT (p.Leu990=)
c.2926_2930delinsCTATT (p.Leu976=)
c.2890_2894delinsCTATT (p.Leu964=)
19g.7128865A>CCA403671686INSRc.2932T>G (p.Phe978Val)
c.2896T>G (p.Phe966Val)
c.3007T>G (p.Phe1003Val)
c.2971T>G (p.Phe991Val)
c.2929T>G (p.Phe977Val)
c.2893T>G (p.Phe965Val)
19g.7128865A>GCA403671688INSRc.2932T>C (p.Phe978Leu)
c.2896T>C (p.Phe966Leu)
c.3007T>C (p.Phe1003Leu)
c.2971T>C (p.Phe991Leu)
c.2929T>C (p.Phe977Leu)
c.2893T>C (p.Phe965Leu)
gnomAD v4
19g.7128865A>TCA403671687INSRc.2932T>A (p.Phe978Ile)
c.2896T>A (p.Phe966Ile)
c.3007T>A (p.Phe1003Ile)
c.2971T>A (p.Phe991Ile)
c.2929T>A (p.Phe977Ile)
c.2893T>A (p.Phe965Ile)
19g.7128868_7128871delCA658799110INSRc.2929_2932del (p.Leu977SerfsTer2)
c.2893_2896del (p.Leu965SerfsTer2)
c.3004_3007del (p.Leu1002SerfsTer2)
c.2968_2971del (p.Leu990SerfsTer2)
c.2926_2929del (p.Leu976SerfsTer2)
c.2890_2893del (p.Leu964SerfsTer2)
ClinVar dbSNP
19g.7128866T>ACA505217369INSRc.2931A>T (p.Leu977=)
c.2895A>T (p.Leu965=)
c.3006A>T (p.Leu1002=)
c.2970A>T (p.Leu990=)
c.2928A>T (p.Leu976=)
c.2892A>T (p.Leu964=)
19g.7128866T>CCA505217368INSRc.2931A>G (p.Leu977=)
c.2895A>G (p.Leu965=)
c.3006A>G (p.Leu1002=)
c.2970A>G (p.Leu990=)
c.2928A>G (p.Leu976=)
c.2892A>G (p.Leu964=)
19g.7128866T>GCA505217367INSRc.2931A>C (p.Leu977=)
c.2895A>C (p.Leu965=)
c.3006A>C (p.Leu1002=)
c.2970A>C (p.Leu990=)
c.2928A>C (p.Leu976=)
c.2892A>C (p.Leu964=)
19g.7128867A>CCA403671689INSRc.2930T>G (p.Leu977Arg)
c.2894T>G (p.Leu965Arg)
c.3005T>G (p.Leu1002Arg)
c.2969T>G (p.Leu990Arg)
c.2927T>G (p.Leu976Arg)
c.2891T>G (p.Leu964Arg)
19g.7128867A>GCA403671690INSRc.2930T>C (p.Leu977Pro)
c.2894T>C (p.Leu965Pro)
c.3005T>C (p.Leu1002Pro)
c.2969T>C (p.Leu990Pro)
c.2927T>C (p.Leu976Pro)
c.2891T>C (p.Leu964Pro)
19g.7128867A>TCA403671691INSRc.2930T>A (p.Leu977Gln)
c.2894T>A (p.Leu965Gln)
c.3005T>A (p.Leu1002Gln)
c.2969T>A (p.Leu990Gln)
c.2927T>A (p.Leu976Gln)
c.2891T>A (p.Leu964Gln)
19g.7128868G>ACA505217370INSRc.2929C>T (p.Leu977=)
c.2893C>T (p.Leu965=)
c.3004C>T (p.Leu1002=)
c.2968C>T (p.Leu990=)
c.2926C>T (p.Leu976=)
c.2890C>T (p.Leu964=)
19g.7128868G>CCA403671692INSRc.2929C>G (p.Leu977Val)
c.2893C>G (p.Leu965Val)
c.3004C>G (p.Leu1002Val)
c.2968C>G (p.Leu990Val)
c.2926C>G (p.Leu976Val)
c.2890C>G (p.Leu964Val)
19g.7128868G>TCA403671693INSRc.2929C>A (p.Leu977Ile)
c.2893C>A (p.Leu965Ile)
c.3004C>A (p.Leu1002Ile)
c.2968C>A (p.Leu990Ile)
c.2926C>A (p.Leu976Ile)
c.2890C>A (p.Leu964Ile)
19g.7128869A=CA2320769462INSRc.2928T= (p.Tyr976=)
c.2892T= (p.Tyr964=)
c.3003T= (p.Tyr1001=)
c.2967T= (p.Tyr989=)
c.2925T= (p.Tyr975=)
c.2889T= (p.Tyr963=)
19g.7128869A>CCA403671694INSRc.2928T>G (p.Tyr976Ter)
c.2892T>G (p.Tyr964Ter)
c.3003T>G (p.Tyr1001Ter)
c.2967T>G (p.Tyr989Ter)
c.2925T>G (p.Tyr975Ter)
c.2889T>G (p.Tyr963Ter)
19g.7128869A>GCA505217371INSRc.2928T>C (p.Tyr976=)
c.2892T>C (p.Tyr964=)
c.3003T>C (p.Tyr1001=)
c.2967T>C (p.Tyr989=)
c.2925T>C (p.Tyr975=)
c.2889T>C (p.Tyr963=)
dbSNP gnomAD v2 gnomAD v4
19g.7128869A>TCA403671695INSRc.2928T>A (p.Tyr976Ter)
c.2892T>A (p.Tyr964Ter)
c.3003T>A (p.Tyr1001Ter)
c.2967T>A (p.Tyr989Ter)
c.2925T>A (p.Tyr975Ter)
c.2889T>A (p.Tyr963Ter)
19g.7128870T>ACA403671696INSRc.2927A>T (p.Tyr976Phe)
c.2891A>T (p.Tyr964Phe)
c.3002A>T (p.Tyr1001Phe)
c.2966A>T (p.Tyr989Phe)
c.2924A>T (p.Tyr975Phe)
c.2888A>T (p.Tyr963Phe)
19g.7128870T>CCA403671697INSRc.2927A>G (p.Tyr976Cys)
c.2891A>G (p.Tyr964Cys)
c.3002A>G (p.Tyr1001Cys)
c.2966A>G (p.Tyr989Cys)
c.2924A>G (p.Tyr975Cys)
c.2888A>G (p.Tyr963Cys)
19g.7128870T>GCA403671698INSRc.2927A>C (p.Tyr976Ser)
c.2891A>C (p.Tyr964Ser)
c.3002A>C (p.Tyr1001Ser)
c.2966A>C (p.Tyr989Ser)
c.2924A>C (p.Tyr975Ser)
c.2888A>C (p.Tyr963Ser)
19g.7128871A>CCA403671701INSRc.2926T>G (p.Tyr976Asp)
c.2890T>G (p.Tyr964Asp)
c.3001T>G (p.Tyr1001Asp)
c.2965T>G (p.Tyr989Asp)
c.2923T>G (p.Tyr975Asp)
c.2887T>G (p.Tyr963Asp)
19g.7128871A>GCA403671700INSRc.2926T>C (p.Tyr976His)
c.2890T>C (p.Tyr964His)
c.3001T>C (p.Tyr1001His)
c.2965T>C (p.Tyr989His)
c.2923T>C (p.Tyr975His)
c.2887T>C (p.Tyr963His)
19g.7128871A>TCA403671699INSRc.2926T>A (p.Tyr976Asn)
c.2890T>A (p.Tyr964Asn)
c.3001T>A (p.Tyr1001Asn)
c.2965T>A (p.Tyr989Asn)
c.2923T>A (p.Tyr975Asn)
c.2887T>A (p.Tyr963Asn)
19g.7128872A=CA2320769463INSRc.2925T= (p.Ile975=)
c.2889T= (p.Ile963=)
c.3000T= (p.Ile1000=)
c.2964T= (p.Ile988=)
c.2922T= (p.Ile974=)
c.2886T= (p.Ile962=)
19g.7128872A>CCA403671702INSRc.2925T>G (p.Ile975Met)
c.2889T>G (p.Ile963Met)
c.3000T>G (p.Ile1000Met)
c.2964T>G (p.Ile988Met)
c.2922T>G (p.Ile974Met)
c.2886T>G (p.Ile962Met)
dbSNP
19g.7128872A>GCA505217372INSRc.2925T>C (p.Ile975=)
c.2889T>C (p.Ile963=)
c.3000T>C (p.Ile1000=)
c.2964T>C (p.Ile988=)
c.2922T>C (p.Ile974=)
c.2886T>C (p.Ile962=)
19g.7128872A>TCA9135418INSRc.2925T>A (p.Ile975=)
c.2889T>A (p.Ile963=)
c.3000T>A (p.Ile1000=)
c.2964T>A (p.Ile988=)
c.2922T>A (p.Ile974=)
c.2886T>A (p.Ile962=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7128873A>CCA403671703INSRc.2924T>G (p.Ile975Ser)
c.2888T>G (p.Ile963Ser)
c.2999T>G (p.Ile1000Ser)
c.2963T>G (p.Ile988Ser)
c.2921T>G (p.Ile974Ser)
c.2885T>G (p.Ile962Ser)
19g.7128873A>GCA403671704INSRc.2924T>C (p.Ile975Thr)
c.2888T>C (p.Ile963Thr)
c.2999T>C (p.Ile1000Thr)
c.2963T>C (p.Ile988Thr)
c.2921T>C (p.Ile974Thr)
c.2885T>C (p.Ile962Thr)
19g.7128873A>TCA403671705INSRc.2924T>A (p.Ile975Asn)
c.2888T>A (p.Ile963Asn)
c.2999T>A (p.Ile1000Asn)
c.2963T>A (p.Ile988Asn)
c.2921T>A (p.Ile974Asn)
c.2885T>A (p.Ile962Asn)
19g.7128874T>ACA403671706INSRc.2923A>T (p.Ile975Phe)
c.2887A>T (p.Ile963Phe)
c.2998A>T (p.Ile1000Phe)
c.2962A>T (p.Ile988Phe)
c.2920A>T (p.Ile974Phe)
c.2884A>T (p.Ile962Phe)
19g.7128874T>CCA403671707INSRc.2923A>G (p.Ile975Val)
c.2887A>G (p.Ile963Val)
c.2998A>G (p.Ile1000Val)
c.2962A>G (p.Ile988Val)
c.2920A>G (p.Ile974Val)
c.2884A>G (p.Ile962Val)
dbSNP
19g.7128874T>GCA403671708INSRc.2923A>C (p.Ile975Leu)
c.2887A>C (p.Ile963Leu)
c.2998A>C (p.Ile1000Leu)
c.2962A>C (p.Ile988Leu)
c.2920A>C (p.Ile974Leu)
c.2884A>C (p.Ile962Leu)
19g.7128874T=CA2320769464INSRc.2923A= (p.Ile975=)
c.2887A= (p.Ile963=)
c.2998A= (p.Ile1000=)
c.2962A= (p.Ile988=)
c.2920A= (p.Ile974=)
c.2884A= (p.Ile962=)
19g.7128875A>CCA403671709INSRc.2922T>G (p.Ser974Arg)
c.2886T>G (p.Ser962Arg)
c.2997T>G (p.Ser999Arg)
c.2961T>G (p.Ser987Arg)
c.2919T>G (p.Ser973Arg)
c.2883T>G (p.Ser961Arg)
19g.7128875A>GCA505217373INSRc.2922T>C (p.Ser974=)
c.2886T>C (p.Ser962=)
c.2997T>C (p.Ser999=)
c.2961T>C (p.Ser987=)
c.2919T>C (p.Ser973=)
c.2883T>C (p.Ser961=)
19g.7128875A>TCA403671710INSRc.2922T>A (p.Ser974Arg)
c.2886T>A (p.Ser962Arg)
c.2997T>A (p.Ser999Arg)
c.2961T>A (p.Ser987Arg)
c.2919T>A (p.Ser973Arg)
c.2883T>A (p.Ser961Arg)
19g.7128876C>ACA403671711INSRc.2921G>T (p.Ser974Ile)
c.2885G>T (p.Ser962Ile)
c.2996G>T (p.Ser999Ile)
c.2960G>T (p.Ser987Ile)
c.2918G>T (p.Ser973Ile)
c.2882G>T (p.Ser961Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7128876C=CA2320769465INSRc.2921G= (p.Ser974=)
c.2885G= (p.Ser962=)
c.2996G= (p.Ser999=)
c.2960G= (p.Ser987=)
c.2918G= (p.Ser973=)
c.2882G= (p.Ser961=)
19g.7128876C>GCA403671712INSRc.2921G>C (p.Ser974Thr)
c.2885G>C (p.Ser962Thr)
c.2996G>C (p.Ser999Thr)
c.2960G>C (p.Ser987Thr)
c.2918G>C (p.Ser973Thr)
c.2882G>C (p.Ser961Thr)
19g.7128876C>TCA403671713INSRc.2921G>A (p.Ser974Asn)
c.2885G>A (p.Ser962Asn)
c.2996G>A (p.Ser999Asn)
c.2960G>A (p.Ser987Asn)
c.2918G>A (p.Ser973Asn)
c.2882G>A (p.Ser961Asn)
dbSNP gnomAD v2 gnomAD v4
19g.7128877T>ACA403671716INSRc.2920A>T (p.Ser974Cys)
c.2884A>T (p.Ser962Cys)
c.2995A>T (p.Ser999Cys)
c.2959A>T (p.Ser987Cys)
c.2917A>T (p.Ser973Cys)
c.2881A>T (p.Ser961Cys)
19g.7128877T>CCA403671715INSRc.2920A>G (p.Ser974Gly)
c.2884A>G (p.Ser962Gly)
c.2995A>G (p.Ser999Gly)
c.2959A>G (p.Ser987Gly)
c.2917A>G (p.Ser973Gly)
c.2881A>G (p.Ser961Gly)
19g.7128877T>GCA403671714INSRc.2920A>C (p.Ser974Arg)
c.2884A>C (p.Ser962Arg)
c.2995A>C (p.Ser999Arg)
c.2959A>C (p.Ser987Arg)
c.2917A>C (p.Ser973Arg)
c.2881A>C (p.Ser961Arg)
19g.7128878T>ACA505217375INSRc.2919A>T (p.Gly973=)
c.2883A>T (p.Gly961=)
c.2994A>T (p.Gly998=)
c.2958A>T (p.Gly986=)
c.2916A>T (p.Gly972=)
c.2880A>T (p.Gly960=)
19g.7128878T>CCA505217374INSRc.2919A>G (p.Gly973=)
c.2883A>G (p.Gly961=)
c.2994A>G (p.Gly998=)
c.2958A>G (p.Gly986=)
c.2916A>G (p.Gly972=)
c.2880A>G (p.Gly960=)
19g.7128878T>GCA505217376INSRc.2919A>C (p.Gly973=)
c.2883A>C (p.Gly961=)
c.2994A>C (p.Gly998=)
c.2958A>C (p.Gly986=)
c.2916A>C (p.Gly972=)
c.2880A>C (p.Gly960=)
19g.7128879C>ACA403671717INSRc.2918G>T (p.Gly973Val)
c.2882G>T (p.Gly961Val)
c.2993G>T (p.Gly998Val)
c.2957G>T (p.Gly986Val)
c.2915G>T (p.Gly972Val)
c.2879G>T (p.Gly960Val)
19g.7128879C>GCA403671718INSRc.2918G>C (p.Gly973Ala)
c.2882G>C (p.Gly961Ala)
c.2993G>C (p.Gly998Ala)
c.2957G>C (p.Gly986Ala)
c.2915G>C (p.Gly972Ala)
c.2879G>C (p.Gly960Ala)
gnomAD v4
19g.7128879C>TCA403671719INSRc.2918G>A (p.Gly973Glu)
c.2882G>A (p.Gly961Glu)
c.2993G>A (p.Gly998Glu)
c.2957G>A (p.Gly986Glu)
c.2915G>A (p.Gly972Glu)
c.2879G>A (p.Gly960Glu)
19g.7128880C>ACA403671720INSRc.2917G>T (p.Gly973Ter)
c.2881G>T (p.Gly961Ter)
c.2992G>T (p.Gly998Ter)
c.2956G>T (p.Gly986Ter)
c.2914G>T (p.Gly972Ter)
c.2878G>T (p.Gly960Ter)
19g.7128880C>GCA403671721INSRc.2917G>C (p.Gly973Arg)
c.2881G>C (p.Gly961Arg)
c.2992G>C (p.Gly998Arg)
c.2956G>C (p.Gly986Arg)
c.2914G>C (p.Gly972Arg)
c.2878G>C (p.Gly960Arg)
19g.7128880C>TCA403671722INSRc.2917G>A (p.Gly973Arg)
c.2881G>A (p.Gly961Arg)
c.2992G>A (p.Gly998Arg)
c.2956G>A (p.Gly986Arg)
c.2914G>A (p.Gly972Arg)
c.2878G>A (p.Gly960Arg)
gnomAD v4
19g.7128881A>CCA403671723INSRc.2916T>G (p.Ile972Met)
c.2880T>G (p.Ile960Met)
c.2991T>G (p.Ile997Met)
c.2955T>G (p.Ile985Met)
c.2913T>G (p.Ile971Met)
c.2877T>G (p.Ile959Met)
19g.7128881A>GCA505217377INSRc.2916T>C (p.Ile972=)
c.2880T>C (p.Ile960=)
c.2991T>C (p.Ile997=)
c.2955T>C (p.Ile985=)
c.2913T>C (p.Ile971=)
c.2877T>C (p.Ile959=)
19g.7128881A>TCA505217378INSRc.2916T>A (p.Ile972=)
c.2880T>A (p.Ile960=)
c.2991T>A (p.Ile997=)
c.2955T>A (p.Ile985=)
c.2913T>A (p.Ile971=)
c.2877T>A (p.Ile959=)
19g.7128882A>CCA403671724INSRc.2915T>G (p.Ile972Ser)
c.2879T>G (p.Ile960Ser)
c.2990T>G (p.Ile997Ser)
c.2954T>G (p.Ile985Ser)
c.2912T>G (p.Ile971Ser)
c.2876T>G (p.Ile959Ser)
19g.7128882A>GCA403671725INSRc.2915T>C (p.Ile972Thr)
c.2879T>C (p.Ile960Thr)
c.2990T>C (p.Ile997Thr)
c.2954T>C (p.Ile985Thr)
c.2912T>C (p.Ile971Thr)
c.2876T>C (p.Ile959Thr)
gnomAD v4
19g.7128882A>TCA403671726INSRc.2915T>A (p.Ile972Asn)
c.2879T>A (p.Ile960Asn)
c.2990T>A (p.Ile997Asn)
c.2954T>A (p.Ile985Asn)
c.2912T>A (p.Ile971Asn)
c.2876T>A (p.Ile959Asn)
19g.7128883T>ACA403671727INSRc.2914A>T (p.Ile972Phe)
c.2878A>T (p.Ile960Phe)
c.2989A>T (p.Ile997Phe)
c.2953A>T (p.Ile985Phe)
c.2911A>T (p.Ile971Phe)
c.2875A>T (p.Ile959Phe)
19g.7128883T>CCA403671728INSRc.2914A>G (p.Ile972Val)
c.2878A>G (p.Ile960Val)
c.2989A>G (p.Ile997Val)
c.2953A>G (p.Ile985Val)
c.2911A>G (p.Ile971Val)
c.2875A>G (p.Ile959Val)
dbSNP gnomAD v3 gnomAD v4
19g.7128883T>GCA403671729INSRc.2914A>C (p.Ile972Leu)
c.2878A>C (p.Ile960Leu)
c.2989A>C (p.Ile997Leu)
c.2953A>C (p.Ile985Leu)
c.2911A>C (p.Ile971Leu)
c.2875A>C (p.Ile959Leu)
19g.7128883T=CA2320769466INSRc.2914A= (p.Ile972=)
c.2878A= (p.Ile960=)
c.2989A= (p.Ile997=)
c.2953A= (p.Ile985=)
c.2911A= (p.Ile971=)
c.2875A= (p.Ile959=)
19g.7128884C>ACA505217380INSRc.2913G>T (p.Val971=)
c.2877G>T (p.Val959=)
c.2988G>T (p.Val996=)
c.2952G>T (p.Val984=)
c.2910G>T (p.Val970=)
c.2874G>T (p.Val958=)
19g.7128884C>GCA505217381INSRc.2913G>C (p.Val971=)
c.2877G>C (p.Val959=)
c.2988G>C (p.Val996=)
c.2952G>C (p.Val984=)
c.2910G>C (p.Val970=)
c.2874G>C (p.Val958=)
19g.7128884C>TCA505217379INSRc.2913G>A (p.Val971=)
c.2877G>A (p.Val959=)
c.2988G>A (p.Val996=)
c.2952G>A (p.Val984=)
c.2910G>A (p.Val970=)
c.2874G>A (p.Val958=)
19g.7128885A=CA2320769467INSRc.2912T= (p.Val971=)
c.2876T= (p.Val959=)
c.2987T= (p.Val996=)
c.2951T= (p.Val984=)
c.2909T= (p.Val970=)
c.2873T= (p.Val958=)
19g.7128885A>CCA403671731INSRc.2912T>G (p.Val971Gly)
c.2876T>G (p.Val959Gly)
c.2987T>G (p.Val996Gly)
c.2951T>G (p.Val984Gly)
c.2909T>G (p.Val970Gly)
c.2873T>G (p.Val958Gly)
19g.7128885A>GCA304876008INSRc.2912T>C (p.Val971Ala)
c.2876T>C (p.Val959Ala)
c.2987T>C (p.Val996Ala)
c.2951T>C (p.Val984Ala)
c.2909T>C (p.Val970Ala)
c.2873T>C (p.Val958Ala)
dbSNP
19g.7128885A>TCA403671730INSRc.2912T>A (p.Val971Glu)
c.2876T>A (p.Val959Glu)
c.2987T>A (p.Val996Glu)
c.2951T>A (p.Val984Glu)
c.2909T>A (p.Val970Glu)
c.2873T>A (p.Val958Glu)
19g.7128886C>ACA403671732INSRc.2911G>T (p.Val971Leu)
c.2875G>T (p.Val959Leu)
c.2986G>T (p.Val996Leu)
c.2950G>T (p.Val984Leu)
c.2908G>T (p.Val970Leu)
c.2872G>T (p.Val958Leu)
19g.7128886C>GCA403671734INSRc.2911G>C (p.Val971Leu)
c.2875G>C (p.Val959Leu)
c.2986G>C (p.Val996Leu)
c.2950G>C (p.Val984Leu)
c.2908G>C (p.Val970Leu)
c.2872G>C (p.Val958Leu)
19g.7128886C>TCA403671733INSRc.2911G>A (p.Val971Met)
c.2875G>A (p.Val959Met)
c.2986G>A (p.Val996Met)
c.2950G>A (p.Val984Met)
c.2908G>A (p.Val970Met)
c.2872G>A (p.Val958Met)
gnomAD v4
19g.7128887A>CCA505217384INSRc.2910T>G (p.Val970=)
c.2874T>G (p.Val958=)
c.2985T>G (p.Val995=)
c.2949T>G (p.Val983=)
c.2907T>G (p.Val969=)
c.2871T>G (p.Val957=)
19g.7128887A>GCA505217385INSRc.2910T>C (p.Val970=)
c.2874T>C (p.Val958=)
c.2985T>C (p.Val995=)
c.2949T>C (p.Val983=)
c.2907T>C (p.Val969=)
c.2871T>C (p.Val957=)
19g.7128887A>TCA505217386INSRc.2910T>A (p.Val970=)
c.2874T>A (p.Val958=)
c.2985T>A (p.Val995=)
c.2949T>A (p.Val983=)
c.2907T>A (p.Val969=)
c.2871T>A (p.Val957=)
19g.7128888A>CCA403671735INSRc.2909T>G (p.Val970Gly)
c.2873T>G (p.Val958Gly)
c.2984T>G (p.Val995Gly)
c.2948T>G (p.Val983Gly)
c.2906T>G (p.Val969Gly)
c.2870T>G (p.Val957Gly)
19g.7128888A>GCA403671736INSRc.2909T>C (p.Val970Ala)
c.2873T>C (p.Val958Ala)
c.2984T>C (p.Val995Ala)
c.2948T>C (p.Val983Ala)
c.2906T>C (p.Val969Ala)
c.2870T>C (p.Val957Ala)
19g.7128888A>TCA403671737INSRc.2909T>A (p.Val970Asp)
c.2873T>A (p.Val958Asp)
c.2984T>A (p.Val995Asp)
c.2948T>A (p.Val983Asp)
c.2906T>A (p.Val969Asp)
c.2870T>A (p.Val957Asp)
19g.7128889C>ACA403671738INSRc.2908G>T (p.Val970Phe)
c.2872G>T (p.Val958Phe)
c.2983G>T (p.Val995Phe)
c.2947G>T (p.Val983Phe)
c.2905G>T (p.Val969Phe)
c.2869G>T (p.Val957Phe)
dbSNP gnomAD v2
19g.7128889C=CA2320769468INSRc.2908G= (p.Val970=)
c.2872G= (p.Val958=)
c.2983G= (p.Val995=)
c.2947G= (p.Val983=)
c.2905G= (p.Val969=)
c.2869G= (p.Val957=)
19g.7128889C>GCA403671739INSRc.2908G>C (p.Val970Leu)
c.2872G>C (p.Val958Leu)
c.2983G>C (p.Val995Leu)
c.2947G>C (p.Val983Leu)
c.2905G>C (p.Val969Leu)
c.2869G>C (p.Val957Leu)
19g.7128889C>TCA403671740INSRc.2908G>A (p.Val970Ile)
c.2872G>A (p.Val958Ile)
c.2983G>A (p.Val995Ile)
c.2947G>A (p.Val983Ile)
c.2905G>A (p.Val969Ile)
c.2869G>A (p.Val957Ile)
19g.7128890A>CCA403671741INSRc.2907T>G (p.Ser969Arg)
c.2871T>G (p.Ser957Arg)
c.2982T>G (p.Ser994Arg)
c.2946T>G (p.Ser982Arg)
c.2904T>G (p.Ser968Arg)
c.2868T>G (p.Ser956Arg)
19g.7128890A>GCA505217387INSRc.2907T>C (p.Ser969=)
c.2871T>C (p.Ser957=)
c.2982T>C (p.Ser994=)
c.2946T>C (p.Ser982=)
c.2904T>C (p.Ser968=)
c.2868T>C (p.Ser956=)
19g.7128890A>TCA403671742INSRc.2907T>A (p.Ser969Arg)
c.2871T>A (p.Ser957Arg)
c.2982T>A (p.Ser994Arg)
c.2946T>A (p.Ser982Arg)
c.2904T>A (p.Ser968Arg)
c.2868T>A (p.Ser956Arg)
19g.7128891C>ACA403671743INSRc.2906G>T (p.Ser969Ile)
c.2870G>T (p.Ser957Ile)
c.2981G>T (p.Ser994Ile)
c.2945G>T (p.Ser982Ile)
c.2903G>T (p.Ser968Ile)
c.2867G>T (p.Ser956Ile)
19g.7128891C>GCA403671744INSRc.2906G>C (p.Ser969Thr)
c.2870G>C (p.Ser957Thr)
c.2981G>C (p.Ser994Thr)
c.2945G>C (p.Ser982Thr)
c.2903G>C (p.Ser968Thr)
c.2867G>C (p.Ser956Thr)
19g.7128891C>TCA403671745INSRc.2906G>A (p.Ser969Asn)
c.2870G>A (p.Ser957Asn)
c.2981G>A (p.Ser994Asn)
c.2945G>A (p.Ser982Asn)
c.2903G>A (p.Ser968Asn)
c.2867G>A (p.Ser956Asn)
19g.7128892T>ACA403671748INSRc.2905A>T (p.Ser969Cys)
c.2869A>T (p.Ser957Cys)
c.2980A>T (p.Ser994Cys)
c.2944A>T (p.Ser982Cys)
c.2902A>T (p.Ser968Cys)
c.2866A>T (p.Ser956Cys)
19g.7128892T>CCA403671747INSRc.2905A>G (p.Ser969Gly)
c.2869A>G (p.Ser957Gly)
c.2980A>G (p.Ser994Gly)
c.2944A>G (p.Ser982Gly)
c.2902A>G (p.Ser968Gly)
c.2866A>G (p.Ser956Gly)
gnomAD v4
19g.7128892T>GCA403671746INSRc.2905A>C (p.Ser969Arg)
c.2869A>C (p.Ser957Arg)
c.2980A>C (p.Ser994Arg)
c.2944A>C (p.Ser982Arg)
c.2902A>C (p.Ser968Arg)
c.2866A>C (p.Ser956Arg)
19g.7128893G>ACA505217388INSRc.2904C>T (p.Phe968=)
c.2868C>T (p.Phe956=)
c.2979C>T (p.Phe993=)
c.2943C>T (p.Phe981=)
c.2901C>T (p.Phe967=)
c.2865C>T (p.Phe955=)
gnomAD v4
19g.7128893G>CCA403671749INSRc.2904C>G (p.Phe968Leu)
c.2868C>G (p.Phe956Leu)
c.2979C>G (p.Phe993Leu)
c.2943C>G (p.Phe981Leu)
c.2901C>G (p.Phe967Leu)
c.2865C>G (p.Phe955Leu)
19g.7128893G>TCA403671750INSRc.2904C>A (p.Phe968Leu)
c.2868C>A (p.Phe956Leu)
c.2979C>A (p.Phe993Leu)
c.2943C>A (p.Phe981Leu)
c.2901C>A (p.Phe967Leu)
c.2865C>A (p.Phe955Leu)
19g.7128894A>CCA403671751INSRc.2903T>G (p.Phe968Cys)
c.2867T>G (p.Phe956Cys)
c.2978T>G (p.Phe993Cys)
c.2942T>G (p.Phe981Cys)
c.2900T>G (p.Phe967Cys)
c.2864T>G (p.Phe955Cys)
19g.7128894A>GCA403671752INSRc.2903T>C (p.Phe968Ser)
c.2867T>C (p.Phe956Ser)
c.2978T>C (p.Phe993Ser)
c.2942T>C (p.Phe981Ser)
c.2900T>C (p.Phe967Ser)
c.2864T>C (p.Phe955Ser)
19g.7128894A>TCA403671753INSRc.2903T>A (p.Phe968Tyr)
c.2867T>A (p.Phe956Tyr)
c.2978T>A (p.Phe993Tyr)
c.2942T>A (p.Phe981Tyr)
c.2900T>A (p.Phe967Tyr)
c.2864T>A (p.Phe955Tyr)
19g.7128895A>CCA403671754INSRc.2902T>G (p.Phe968Val)
c.2866T>G (p.Phe956Val)
c.2977T>G (p.Phe993Val)
c.2941T>G (p.Phe981Val)
c.2899T>G (p.Phe967Val)
c.2863T>G (p.Phe955Val)
19g.7128895A>GCA403671755INSRc.2902T>C (p.Phe968Leu)
c.2866T>C (p.Phe956Leu)
c.2977T>C (p.Phe993Leu)
c.2941T>C (p.Phe981Leu)
c.2899T>C (p.Phe967Leu)
c.2863T>C (p.Phe955Leu)
19g.7128895A>TCA403671756INSRc.2902T>A (p.Phe968Ile)
c.2866T>A (p.Phe956Ile)
c.2977T>A (p.Phe993Ile)
c.2941T>A (p.Phe981Ile)
c.2899T>A (p.Phe967Ile)
c.2863T>A (p.Phe955Ile)
19g.7128896G>ACA505217389INSRc.2901C>T (p.Leu967=)
c.2865C>T (p.Leu955=)
c.2976C>T (p.Leu992=)
c.2940C>T (p.Leu980=)
c.2898C>T (p.Leu966=)
c.2862C>T (p.Leu954=)
ClinVar
19g.7128896G>CCA505217390INSRc.2901C>G (p.Leu967=)
c.2865C>G (p.Leu955=)
c.2976C>G (p.Leu992=)
c.2940C>G (p.Leu980=)
c.2898C>G (p.Leu966=)
c.2862C>G (p.Leu954=)
19g.7128896G>TCA505217391INSRc.2901C>A (p.Leu967=)
c.2865C>A (p.Leu955=)
c.2976C>A (p.Leu992=)
c.2940C>A (p.Leu980=)
c.2898C>A (p.Leu966=)
c.2862C>A (p.Leu954=)
19g.7128897A>CCA403671757INSRc.2900T>G (p.Leu967Arg)
c.2864T>G (p.Leu955Arg)
c.2975T>G (p.Leu992Arg)
c.2939T>G (p.Leu980Arg)
c.2897T>G (p.Leu966Arg)
c.2861T>G (p.Leu954Arg)
19g.7128897A>GCA403671758INSRc.2900T>C (p.Leu967Pro)
c.2864T>C (p.Leu955Pro)
c.2975T>C (p.Leu992Pro)
c.2939T>C (p.Leu980Pro)
c.2897T>C (p.Leu966Pro)
c.2861T>C (p.Leu954Pro)
19g.7128897A>TCA403671759INSRc.2900T>A (p.Leu967His)
c.2864T>A (p.Leu955His)
c.2975T>A (p.Leu992His)
c.2939T>A (p.Leu980His)
c.2897T>A (p.Leu966His)
c.2861T>A (p.Leu954His)
19g.7128898G>ACA403671762INSRc.2899C>T (p.Leu967Phe)
c.2863C>T (p.Leu955Phe)
c.2974C>T (p.Leu992Phe)
c.2938C>T (p.Leu980Phe)
c.2896C>T (p.Leu966Phe)
c.2860C>T (p.Leu954Phe)
19g.7128898G>CCA403671761INSRc.2899C>G (p.Leu967Val)
c.2863C>G (p.Leu955Val)
c.2974C>G (p.Leu992Val)
c.2938C>G (p.Leu980Val)
c.2896C>G (p.Leu966Val)
c.2860C>G (p.Leu954Val)
19g.7128898G>TCA403671760INSRc.2899C>A (p.Leu967Ile)
c.2863C>A (p.Leu955Ile)
c.2974C>A (p.Leu992Ile)
c.2938C>A (p.Leu980Ile)
c.2896C>A (p.Leu966Ile)
c.2860C>A (p.Leu954Ile)
COSMIC COSMIC
19g.7128899A>CCA403671763INSRc.2898T>G (p.Phe966Leu)
c.2862T>G (p.Phe954Leu)
c.2973T>G (p.Phe991Leu)
c.2937T>G (p.Phe979Leu)
c.2895T>G (p.Phe965Leu)
c.2859T>G (p.Phe953Leu)
19g.7128899A>GCA505217392INSRc.2898T>C (p.Phe966=)
c.2862T>C (p.Phe954=)
c.2973T>C (p.Phe991=)
c.2937T>C (p.Phe979=)
c.2895T>C (p.Phe965=)
c.2859T>C (p.Phe953=)
19g.7128899A>TCA403671764INSRc.2898T>A (p.Phe966Leu)
c.2862T>A (p.Phe954Leu)
c.2973T>A (p.Phe991Leu)
c.2937T>A (p.Phe979Leu)
c.2895T>A (p.Phe965Leu)
c.2859T>A (p.Phe953Leu)
19g.7128900A>CCA403671765INSRc.2897T>G (p.Phe966Cys)
c.2861T>G (p.Phe954Cys)
c.2972T>G (p.Phe991Cys)
c.2936T>G (p.Phe979Cys)
c.2894T>G (p.Phe965Cys)
c.2858T>G (p.Phe953Cys)
19g.7128900A>GCA403671766INSRc.2897T>C (p.Phe966Ser)
c.2861T>C (p.Phe954Ser)
c.2972T>C (p.Phe991Ser)
c.2936T>C (p.Phe979Ser)
c.2894T>C (p.Phe965Ser)
c.2858T>C (p.Phe953Ser)
19g.7128900A>TCA403671767INSRc.2897T>A (p.Phe966Tyr)
c.2861T>A (p.Phe954Tyr)
c.2972T>A (p.Phe991Tyr)
c.2936T>A (p.Phe979Tyr)
c.2894T>A (p.Phe965Tyr)
c.2858T>A (p.Phe953Tyr)
19g.7128901A=CA2320769469INSRc.2896T= (p.Phe966=)
c.2860T= (p.Phe954=)
c.2971T= (p.Phe991=)
c.2935T= (p.Phe979=)
c.2893T= (p.Phe965=)
c.2857T= (p.Phe953=)
19g.7128901A>CCA403671768INSRc.2896T>G (p.Phe966Val)
c.2860T>G (p.Phe954Val)
c.2971T>G (p.Phe991Val)
c.2935T>G (p.Phe979Val)
c.2893T>G (p.Phe965Val)
c.2857T>G (p.Phe953Val)
19g.7128901A>GCA403671769INSRc.2896T>C (p.Phe966Leu)
c.2860T>C (p.Phe954Leu)
c.2971T>C (p.Phe991Leu)
c.2935T>C (p.Phe979Leu)
c.2893T>C (p.Phe965Leu)
c.2857T>C (p.Phe953Leu)
gnomAD v4
19g.7128901A>TCA304876031INSRc.2896T>A (p.Phe966Ile)
c.2860T>A (p.Phe954Ile)
c.2971T>A (p.Phe991Ile)
c.2935T>A (p.Phe979Ile)
c.2893T>A (p.Phe965Ile)
c.2857T>A (p.Phe953Ile)
dbSNP
19g.7128902G>ACA505217393INSRc.2895C>T (p.Val965=)
c.2859C>T (p.Val953=)
c.2970C>T (p.Val990=)
c.2934C>T (p.Val978=)
c.2892C>T (p.Val964=)
c.2856C>T (p.Val952=)
19g.7128902G>CCA505217394INSRc.2895C>G (p.Val965=)
c.2859C>G (p.Val953=)
c.2970C>G (p.Val990=)
c.2934C>G (p.Val978=)
c.2892C>G (p.Val964=)
c.2856C>G (p.Val952=)
19g.7128902G>TCA505217395INSRc.2895C>A (p.Val965=)
c.2859C>A (p.Val953=)
c.2970C>A (p.Val990=)
c.2934C>A (p.Val978=)
c.2892C>A (p.Val964=)
c.2856C>A (p.Val952=)
COSMIC COSMIC
19g.7128903A>CCA403671770INSRc.2894T>G (p.Val965Gly)
c.2858T>G (p.Val953Gly)
c.2969T>G (p.Val990Gly)
c.2933T>G (p.Val978Gly)
c.2891T>G (p.Val964Gly)
c.2855T>G (p.Val952Gly)
19g.7128903A>GCA403671771INSRc.2894T>C (p.Val965Ala)
c.2858T>C (p.Val953Ala)
c.2969T>C (p.Val990Ala)
c.2933T>C (p.Val978Ala)
c.2891T>C (p.Val964Ala)
c.2855T>C (p.Val952Ala)
19g.7128903A>TCA403671772INSRc.2894T>A (p.Val965Asp)
c.2858T>A (p.Val953Asp)
c.2969T>A (p.Val990Asp)
c.2933T>A (p.Val978Asp)
c.2891T>A (p.Val964Asp)
c.2855T>A (p.Val952Asp)
19g.7128904C>ACA403671775INSRc.2893G>T (p.Val965Phe)
c.2857G>T (p.Val953Phe)
c.2968G>T (p.Val990Phe)
c.2932G>T (p.Val978Phe)
c.2890G>T (p.Val964Phe)
c.2854G>T (p.Val952Phe)
19g.7128904C=CA2320769470INSRc.2893G= (p.Val965=)
c.2857G= (p.Val953=)
c.2968G= (p.Val990=)
c.2932G= (p.Val978=)
c.2890G= (p.Val964=)
c.2854G= (p.Val952=)
19g.7128904C>GCA403671774INSRc.2893G>C (p.Val965Leu)
c.2857G>C (p.Val953Leu)
c.2968G>C (p.Val990Leu)
c.2932G>C (p.Val978Leu)
c.2890G>C (p.Val964Leu)
c.2854G>C (p.Val952Leu)
19g.7128904C>TCA403671773INSRc.2893G>A (p.Val965Ile)
c.2857G>A (p.Val953Ile)
c.2968G>A (p.Val990Ile)
c.2932G>A (p.Val978Ile)
c.2890G>A (p.Val964Ile)
c.2854G>A (p.Val952Ile)
dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched