Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.48756391A=CA2175629203CEP152c.2857T= (p.Leu953=)
c.2578T= (p.Leu860=)
c.898T= (p.Leu300=)
c.892T= (p.Leu298=)
n.3822T=
n.3808T=
15g.48756391A>CCA392343274CEP152c.2857T>G (p.Leu953Val)
c.2578T>G (p.Leu860Val)
c.898T>G (p.Leu300Val)
c.892T>G (p.Leu298Val)
n.3822T>G
n.3808T>G
15g.48756391A>GCA7548459CEP152c.2857T>C (p.Leu953=)
c.2578T>C (p.Leu860=)
c.898T>C (p.Leu300=)
c.892T>C (p.Leu298=)
n.3822T>C
n.3808T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756391A>TCA392343275CEP152c.2857T>A (p.Leu953Ile)
c.2578T>A (p.Leu860Ile)
c.898T>A (p.Leu300Ile)
c.892T>A (p.Leu298Ile)
n.3822T>A
n.3808T>A
15g.48756392C>ACA392343277CEP152c.2856G>T (p.Glu952Asp)
c.2577G>T (p.Glu859Asp)
c.897G>T (p.Glu299Asp)
c.891G>T (p.Glu297Asp)
n.3821G>T
n.3807G>T
15g.48756392C>GCA392343276CEP152c.2856G>C (p.Glu952Asp)
c.2577G>C (p.Glu859Asp)
c.897G>C (p.Glu299Asp)
c.891G>C (p.Glu297Asp)
n.3821G>C
n.3807G>C
15g.48756392C>TCA490311351CEP152c.2856G>A (p.Glu952=)
c.2577G>A (p.Glu859=)
c.897G>A (p.Glu299=)
c.891G>A (p.Glu297=)
n.3821G>A
n.3807G>A
 gnomAD v4
15g.48756393T>ACA7548460CEP152c.2855A>T (p.Glu952Val)
c.2576A>T (p.Glu859Val)
c.896A>T (p.Glu299Val)
c.890A>T (p.Glu297Val)
n.3820A>T
n.3806A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756393T>CCA392343278CEP152c.2855A>G (p.Glu952Gly)
c.2576A>G (p.Glu859Gly)
c.896A>G (p.Glu299Gly)
c.890A>G (p.Glu297Gly)
n.3820A>G
n.3806A>G
15g.48756393T>GCA392343279CEP152c.2855A>C (p.Glu952Ala)
c.2576A>C (p.Glu859Ala)
c.896A>C (p.Glu299Ala)
c.890A>C (p.Glu297Ala)
n.3820A>C
n.3806A>C
15g.48756393T=CA2175629206CEP152c.2855A= (p.Glu952=)
c.2576A= (p.Glu859=)
c.896A= (p.Glu299=)
c.890A= (p.Glu297=)
n.3820A=
n.3806A=
15g.48756394C>ACA392343280CEP152c.2854G>T (p.Glu952Ter)
c.2575G>T (p.Glu859Ter)
c.895G>T (p.Glu299Ter)
c.889G>T (p.Glu297Ter)
n.3819G>T
n.3805G>T
15g.48756394C>GCA392343281CEP152c.2854G>C (p.Glu952Gln)
c.2575G>C (p.Glu859Gln)
c.895G>C (p.Glu299Gln)
c.889G>C (p.Glu297Gln)
n.3819G>C
n.3805G>C
15g.48756394C>TCA392343282CEP152c.2854G>A (p.Glu952Lys)
c.2575G>A (p.Glu859Lys)
c.895G>A (p.Glu299Lys)
c.889G>A (p.Glu297Lys)
n.3819G>A
n.3805G>A
 gnomAD v4
15g.48756395A>CCA490311352CEP152c.2853T>G (p.Ala951=)
c.2574T>G (p.Ala858=)
c.894T>G (p.Ala298=)
c.888T>G (p.Ala296=)
n.3818T>G
n.3804T>G
15g.48756395A>GCA490311353CEP152c.2853T>C (p.Ala951=)
c.2574T>C (p.Ala858=)
c.894T>C (p.Ala298=)
c.888T>C (p.Ala296=)
n.3818T>C
n.3804T>C
15g.48756395A>TCA490311354CEP152c.2853T>A (p.Ala951=)
c.2574T>A (p.Ala858=)
c.894T>A (p.Ala298=)
c.888T>A (p.Ala296=)
n.3818T>A
n.3804T>A
15g.48756396G>ACA392343283CEP152c.2852C>T (p.Ala951Val)
c.2573C>T (p.Ala858Val)
c.893C>T (p.Ala298Val)
c.887C>T (p.Ala296Val)
n.3817C>T
n.3803C>T
15g.48756396G>CCA392343285CEP152c.2852C>G (p.Ala951Gly)
c.2573C>G (p.Ala858Gly)
c.893C>G (p.Ala298Gly)
c.887C>G (p.Ala296Gly)
n.3817C>G
n.3803C>G
15g.48756396G>TCA392343284CEP152c.2852C>A (p.Ala951Asp)
c.2573C>A (p.Ala858Asp)
c.893C>A (p.Ala298Asp)
c.887C>A (p.Ala296Asp)
n.3817C>A
n.3803C>A
15g.48756397C>ACA392343286CEP152c.2851G>T (p.Ala951Ser)
c.2572G>T (p.Ala858Ser)
c.892G>T (p.Ala298Ser)
c.886G>T (p.Ala296Ser)
n.3816G>T
n.3802G>T
 gnomAD v4
15g.48756397C=CA2175629208CEP152c.2851G= (p.Ala951=)
c.2572G= (p.Ala858=)
c.892G= (p.Ala298=)
c.886G= (p.Ala296=)
n.3816G=
n.3802G=
15g.48756397C>GCA392343287CEP152c.2851G>C (p.Ala951Pro)
c.2572G>C (p.Ala858Pro)
c.892G>C (p.Ala298Pro)
c.886G>C (p.Ala296Pro)
n.3816G>C
n.3802G>C
15g.48756397C>TCA7548461CEP152c.2851G>A (p.Ala951Thr)
c.2572G>A (p.Ala858Thr)
c.892G>A (p.Ala298Thr)
c.886G>A (p.Ala296Thr)
n.3816G>A
n.3802G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756398C>ACA392343288CEP152c.2850G>T (p.Arg950Ser)
c.2571G>T (p.Arg857Ser)
c.891G>T (p.Arg297Ser)
c.885G>T (p.Arg295Ser)
n.3815G>T
n.3801G>T
15g.48756398C>GCA392343289CEP152c.2850G>C (p.Arg950Ser)
c.2571G>C (p.Arg857Ser)
c.891G>C (p.Arg297Ser)
c.885G>C (p.Arg295Ser)
n.3815G>C
n.3801G>C
15g.48756398C>TCA490311355CEP152c.2850G>A (p.Arg950=)
c.2571G>A (p.Arg857=)
c.891G>A (p.Arg297=)
c.885G>A (p.Arg295=)
n.3815G>A
n.3801G>A
 gnomAD v4
15g.48756399C>ACA7548462CEP152c.2849G>T (p.Arg950Met)
c.2570G>T (p.Arg857Met)
c.890G>T (p.Arg297Met)
c.884G>T (p.Arg295Met)
n.3814G>T
n.3800G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756399C=CA2175629211CEP152c.2849G= (p.Arg950=)
c.2570G= (p.Arg857=)
c.890G= (p.Arg297=)
c.884G= (p.Arg295=)
n.3814G=
n.3800G=
15g.48756399C>GCA392343290CEP152c.2849G>C (p.Arg950Thr)
c.2570G>C (p.Arg857Thr)
c.890G>C (p.Arg297Thr)
c.884G>C (p.Arg295Thr)
n.3814G>C
n.3800G>C
15g.48756399C>TCA392343291CEP152c.2849G>A (p.Arg950Lys)
c.2570G>A (p.Arg857Lys)
c.890G>A (p.Arg297Lys)
c.884G>A (p.Arg295Lys)
n.3814G>A
n.3800G>A
 dbSNP gnomAD v2 gnomAD v4
15g.48756400T>ACA392343292CEP152c.2848A>T (p.Arg950Trp)
c.2569A>T (p.Arg857Trp)
c.889A>T (p.Arg297Trp)
c.883A>T (p.Arg295Trp)
n.3813A>T
n.3799A>T
15g.48756400T>CCA392343293CEP152c.2848A>G (p.Arg950Gly)
c.2569A>G (p.Arg857Gly)
c.889A>G (p.Arg297Gly)
c.883A>G (p.Arg295Gly)
n.3813A>G
n.3799A>G
15g.48756400T>GCA490311358CEP152c.2848A>C (p.Arg950=)
c.2569A>C (p.Arg857=)
c.889A>C (p.Arg297=)
c.883A>C (p.Arg295=)
n.3813A>C
n.3799A>C
15g.48756401G>ACA490311359CEP152c.2847C>T (p.Ile949=)
c.2568C>T (p.Ile856=)
c.888C>T (p.Ile296=)
c.882C>T (p.Ile294=)
n.3812C>T
n.3798C>T
 dbSNP
15g.48756401G>CCA392343294CEP152c.2847C>G (p.Ile949Met)
c.2568C>G (p.Ile856Met)
c.888C>G (p.Ile296Met)
c.882C>G (p.Ile294Met)
n.3812C>G
n.3798C>G
15g.48756401G>TCA490311360CEP152c.2847C>A (p.Ile949=)
c.2568C>A (p.Ile856=)
c.888C>A (p.Ile296=)
c.882C>A (p.Ile294=)
n.3812C>A
n.3798C>A
15g.48756402A>CCA392343295CEP152c.2846T>G (p.Ile949Ser)
c.2567T>G (p.Ile856Ser)
c.887T>G (p.Ile296Ser)
c.881T>G (p.Ile294Ser)
n.3811T>G
n.3797T>G
15g.48756402A>GCA392343297CEP152c.2846T>C (p.Ile949Thr)
c.2567T>C (p.Ile856Thr)
c.887T>C (p.Ile296Thr)
c.881T>C (p.Ile294Thr)
n.3811T>C
n.3797T>C
15g.48756402A>TCA392343296CEP152c.2846T>A (p.Ile949Asn)
c.2567T>A (p.Ile856Asn)
c.887T>A (p.Ile296Asn)
c.881T>A (p.Ile294Asn)
n.3811T>A
n.3797T>A
15g.48756403T>ACA392343298CEP152c.2845A>T (p.Ile949Phe)
c.2566A>T (p.Ile856Phe)
c.886A>T (p.Ile296Phe)
c.880A>T (p.Ile294Phe)
n.3810A>T
n.3796A>T
 dbSNP gnomAD v4
15g.48756403T>CCA392343299CEP152c.2845A>G (p.Ile949Val)
c.2566A>G (p.Ile856Val)
c.886A>G (p.Ile296Val)
c.880A>G (p.Ile294Val)
n.3810A>G
n.3796A>G
15g.48756403T>GCA392343300CEP152c.2845A>C (p.Ile949Leu)
c.2566A>C (p.Ile856Leu)
c.886A>C (p.Ile296Leu)
c.880A>C (p.Ile294Leu)
n.3810A>C
n.3796A>C
15g.48756403T=CA2175629214CEP152c.2845A= (p.Ile949=)
c.2566A= (p.Ile856=)
c.886A= (p.Ile296=)
c.880A= (p.Ile294=)
n.3810A=
n.3796A=
15g.48756404G>ACA490311361CEP152c.2844C>T (p.Val948=)
c.2565C>T (p.Val855=)
c.885C>T (p.Val295=)
c.879C>T (p.Val293=)
n.3809C>T
n.3795C>T
15g.48756404G>CCA490311362CEP152c.2844C>G (p.Val948=)
c.2565C>G (p.Val855=)
c.885C>G (p.Val295=)
c.879C>G (p.Val293=)
n.3809C>G
n.3795C>G
15g.48756404G>TCA490311363CEP152c.2844C>A (p.Val948=)
c.2565C>A (p.Val855=)
c.885C>A (p.Val295=)
c.879C>A (p.Val293=)
n.3809C>A
n.3795C>A
 gnomAD v4 COSMIC COSMIC
15g.48756405A>CCA392343301CEP152c.2843T>G (p.Val948Gly)
c.2564T>G (p.Val855Gly)
c.884T>G (p.Val295Gly)
c.878T>G (p.Val293Gly)
n.3808T>G
n.3794T>G
15g.48756405A>GCA392343302CEP152c.2843T>C (p.Val948Ala)
c.2564T>C (p.Val855Ala)
c.884T>C (p.Val295Ala)
c.878T>C (p.Val293Ala)
n.3808T>C
n.3794T>C
15g.48756405A>TCA392343303CEP152c.2843T>A (p.Val948Asp)
c.2564T>A (p.Val855Asp)
c.884T>A (p.Val295Asp)
c.878T>A (p.Val293Asp)
n.3808T>A
n.3794T>A
15g.48756406C>ACA392343304CEP152c.2842G>T (p.Val948Phe)
c.2563G>T (p.Val855Phe)
c.883G>T (p.Val295Phe)
c.877G>T (p.Val293Phe)
n.3807G>T
n.3793G>T
15g.48756406C=CA2175629218CEP152c.2842G= (p.Val948=)
c.2563G= (p.Val855=)
c.883G= (p.Val295=)
c.877G= (p.Val293=)
n.3807G=
n.3793G=
15g.48756406C>GCA7548463CEP152c.2842G>C (p.Val948Leu)
c.2563G>C (p.Val855Leu)
c.883G>C (p.Val295Leu)
c.877G>C (p.Val293Leu)
n.3807G>C
n.3793G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756406C>TCA392343305CEP152c.2842G>A (p.Val948Ile)
c.2563G>A (p.Val855Ile)
c.883G>A (p.Val295Ile)
c.877G>A (p.Val293Ile)
n.3807G>A
n.3793G>A
 dbSNP
15g.48756407C>ACA490311365CEP152c.2841G>T (p.Val947=)
c.2562G>T (p.Val854=)
c.882G>T (p.Val294=)
c.876G>T (p.Val292=)
n.3806G>T
n.3792G>T
15g.48756407C=CA2175629223CEP152c.2841G= (p.Val947=)
c.2562G= (p.Val854=)
c.882G= (p.Val294=)
c.876G= (p.Val292=)
n.3806G=
n.3792G=
15g.48756407C>GCA490311364CEP152c.2841G>C (p.Val947=)
c.2562G>C (p.Val854=)
c.882G>C (p.Val294=)
c.876G>C (p.Val292=)
n.3806G>C
n.3792G>C
15g.48756407C>TCA7548464CEP152c.2841G>A (p.Val947=)
c.2562G>A (p.Val854=)
c.882G>A (p.Val294=)
c.876G>A (p.Val292=)
n.3806G>A
n.3792G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756409_48756410dupCA2628343513CEP152c.2840_2841dup (p.Val948TrpfsTer7)
c.2561_2562dup (p.Val855TrpfsTer7)
c.881_882dup (p.Val295TrpfsTer7)
c.875_876dup (p.Val293TrpfsTer7)
n.3805_3806dup
n.3791_3792dup
 gnomAD v4
15g.48756408A>CCA392343306CEP152c.2840T>G (p.Val947Gly)
c.2561T>G (p.Val854Gly)
c.881T>G (p.Val294Gly)
c.875T>G (p.Val292Gly)
n.3805T>G
n.3791T>G
15g.48756408A>GCA392343307CEP152c.2840T>C (p.Val947Ala)
c.2561T>C (p.Val854Ala)
c.881T>C (p.Val294Ala)
c.875T>C (p.Val292Ala)
n.3805T>C
n.3791T>C
15g.48756408A>TCA392343308CEP152c.2840T>A (p.Val947Glu)
c.2561T>A (p.Val854Glu)
c.881T>A (p.Val294Glu)
c.875T>A (p.Val292Glu)
n.3805T>A
n.3791T>A
15g.48756409C>ACA392343309CEP152c.2839G>T (p.Val947Leu)
c.2560G>T (p.Val854Leu)
c.880G>T (p.Val294Leu)
c.874G>T (p.Val292Leu)
n.3804G>T
n.3790G>T
15g.48756409C>GCA392343311CEP152c.2839G>C (p.Val947Leu)
c.2560G>C (p.Val854Leu)
c.880G>C (p.Val294Leu)
c.874G>C (p.Val292Leu)
n.3804G>C
n.3790G>C
15g.48756409C>TCA392343310CEP152c.2839G>A (p.Val947Met)
c.2560G>A (p.Val854Met)
c.880G>A (p.Val294Met)
c.874G>A (p.Val292Met)
n.3804G>A
n.3790G>A
15g.48756410A>CCA490311368CEP152c.2838T>G (p.Pro946=)
c.2559T>G (p.Pro853=)
c.879T>G (p.Pro293=)
c.873T>G (p.Pro291=)
n.3803T>G
n.3789T>G
15g.48756410A>GCA490311367CEP152c.2838T>C (p.Pro946=)
c.2559T>C (p.Pro853=)
c.879T>C (p.Pro293=)
c.873T>C (p.Pro291=)
n.3803T>C
n.3789T>C
15g.48756410A>TCA490311366CEP152c.2838T>A (p.Pro946=)
c.2559T>A (p.Pro853=)
c.879T>A (p.Pro293=)
c.873T>A (p.Pro291=)
n.3803T>A
n.3789T>A
15g.48756411G>ACA392343312CEP152c.2837C>T (p.Pro946Leu)
c.2558C>T (p.Pro853Leu)
c.878C>T (p.Pro293Leu)
c.872C>T (p.Pro291Leu)
n.3802C>T
n.3788C>T
15g.48756411G>CCA392343313CEP152c.2837C>G (p.Pro946Arg)
c.2558C>G (p.Pro853Arg)
c.878C>G (p.Pro293Arg)
c.872C>G (p.Pro291Arg)
n.3802C>G
n.3788C>G
15g.48756411G>TCA392343314CEP152c.2837C>A (p.Pro946His)
c.2558C>A (p.Pro853His)
c.878C>A (p.Pro293His)
c.872C>A (p.Pro291His)
n.3802C>A
n.3788C>A
15g.48756412G>ACA392343315CEP152c.2836C>T (p.Pro946Ser)
c.2557C>T (p.Pro853Ser)
c.877C>T (p.Pro293Ser)
c.871C>T (p.Pro291Ser)
n.3801C>T
n.3787C>T
15g.48756412G>CCA7548465CEP152c.2836C>G (p.Pro946Ala)
c.2557C>G (p.Pro853Ala)
c.877C>G (p.Pro293Ala)
c.871C>G (p.Pro291Ala)
n.3801C>G
n.3787C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756412G=CA2175629226CEP152c.2836C= (p.Pro946=)
c.2557C= (p.Pro853=)
c.877C= (p.Pro293=)
c.871C= (p.Pro291=)
n.3801C=
n.3787C=
15g.48756412G>TCA392343316CEP152c.2836C>A (p.Pro946Thr)
c.2557C>A (p.Pro853Thr)
c.877C>A (p.Pro293Thr)
c.871C>A (p.Pro291Thr)
n.3801C>A
n.3787C>A
15g.48756413G>ACA490311371CEP152c.2835C>T (p.Val945=)
c.2556C>T (p.Val852=)
c.876C>T (p.Val292=)
c.870C>T (p.Val290=)
n.3800C>T
n.3786C>T
15g.48756413G>CCA490311369CEP152c.2835C>G (p.Val945=)
c.2556C>G (p.Val852=)
c.876C>G (p.Val292=)
c.870C>G (p.Val290=)
n.3800C>G
n.3786C>G
 ClinVar dbSNP gnomAD v4
15g.48756413G=CA2175629230CEP152c.2835C= (p.Val945=)
c.2556C= (p.Val852=)
c.876C= (p.Val292=)
c.870C= (p.Val290=)
n.3800C=
n.3786C=
15g.48756413G>TCA490311370CEP152c.2835C>A (p.Val945=)
c.2556C>A (p.Val852=)
c.876C>A (p.Val292=)
c.870C>A (p.Val290=)
n.3800C>A
n.3786C>A
15g.48756414A>CCA392343317CEP152c.2834T>G (p.Val945Gly)
c.2555T>G (p.Val852Gly)
c.875T>G (p.Val292Gly)
c.869T>G (p.Val290Gly)
n.3799T>G
n.3785T>G
15g.48756414A>GCA392343318CEP152c.2834T>C (p.Val945Ala)
c.2555T>C (p.Val852Ala)
c.875T>C (p.Val292Ala)
c.869T>C (p.Val290Ala)
n.3799T>C
n.3785T>C
15g.48756414A>TCA392343319CEP152c.2834T>A (p.Val945Asp)
c.2555T>A (p.Val852Asp)
c.875T>A (p.Val292Asp)
c.869T>A (p.Val290Asp)
n.3799T>A
n.3785T>A
 gnomAD v4
15g.48756414_48756417delinsACTTCA2175629232CEP152c.2831_2834delinsAAGT (p.Glu944=)
c.2552_2555delinsAAGT (p.Glu851=)
c.872_875delinsAAGT (p.Glu291=)
c.866_869delinsAAGT (p.Glu289=)
n.3796_3799delinsAAGT
n.3782_3785delinsAAGT
15g.48756415C>ACA392343322CEP152c.2833G>T (p.Val945Phe)
c.2554G>T (p.Val852Phe)
c.874G>T (p.Val292Phe)
c.868G>T (p.Val290Phe)
n.3798G>T
n.3784G>T
15g.48756415C>GCA392343320CEP152c.2833G>C (p.Val945Leu)
c.2554G>C (p.Val852Leu)
c.874G>C (p.Val292Leu)
c.868G>C (p.Val290Leu)
n.3798G>C
n.3784G>C
15g.48756415C>TCA392343321CEP152c.2833G>A (p.Val945Ile)
c.2554G>A (p.Val852Ile)
c.874G>A (p.Val292Ile)
c.868G>A (p.Val290Ile)
n.3798G>A
n.3784G>A
15g.48756419_48756421delCA7548466CEP152c.2831_2833del (p.Glu944del)
c.2552_2554del (p.Glu851del)
c.872_874del (p.Glu291del)
c.866_868del (p.Glu289del)
n.3796_3798del
n.3782_3784del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756416T>ACA392343323CEP152c.2832A>T (p.Glu944Asp)
c.2553A>T (p.Glu851Asp)
c.873A>T (p.Glu291Asp)
c.867A>T (p.Glu289Asp)
n.3797A>T
n.3783A>T
15g.48756416T>CCA490311372CEP152c.2832A>G (p.Glu944=)
c.2553A>G (p.Glu851=)
c.873A>G (p.Glu291=)
c.867A>G (p.Glu289=)
n.3797A>G
n.3783A>G
 gnomAD v4
15g.48756416T>GCA392343324CEP152c.2832A>C (p.Glu944Asp)
c.2553A>C (p.Glu851Asp)
c.873A>C (p.Glu291Asp)
c.867A>C (p.Glu289Asp)
n.3797A>C
n.3783A>C
15g.48756417T>ACA392343325CEP152c.2831A>T (p.Glu944Val)
c.2552A>T (p.Glu851Val)
c.872A>T (p.Glu291Val)
c.866A>T (p.Glu289Val)
n.3796A>T
n.3782A>T
15g.48756417T>CCA392343326CEP152c.2831A>G (p.Glu944Gly)
c.2552A>G (p.Glu851Gly)
c.872A>G (p.Glu291Gly)
c.866A>G (p.Glu289Gly)
n.3796A>G
n.3782A>G
15g.48756417T>GCA392343327CEP152c.2831A>C (p.Glu944Ala)
c.2552A>C (p.Glu851Ala)
c.872A>C (p.Glu291Ala)
c.866A>C (p.Glu289Ala)
n.3796A>C
n.3782A>C
 dbSNP gnomAD v4
15g.48756417T=CA2175629237CEP152c.2831A= (p.Glu944=)
c.2552A= (p.Glu851=)
c.872A= (p.Glu291=)
c.866A= (p.Glu289=)
n.3796A=
n.3782A=
15g.48756418C>ACA392343328CEP152c.2830G>T (p.Glu944Ter)
c.2551G>T (p.Glu851Ter)
c.871G>T (p.Glu291Ter)
c.865G>T (p.Glu289Ter)
n.3795G>T
n.3781G>T
15g.48756418C=CA2175629240CEP152c.2830G= (p.Glu944=)
c.2551G= (p.Glu851=)
c.871G= (p.Glu291=)
c.865G= (p.Glu289=)
n.3795G=
n.3781G=
15g.48756418C>GCA392343329CEP152c.2830G>C (p.Glu944Gln)
c.2551G>C (p.Glu851Gln)
c.871G>C (p.Glu291Gln)
c.865G>C (p.Glu289Gln)
n.3795G>C
n.3781G>C
15g.48756418C>TCA392343330CEP152c.2830G>A (p.Glu944Lys)
c.2551G>A (p.Glu851Lys)
c.871G>A (p.Glu291Lys)
c.865G>A (p.Glu289Lys)
n.3795G>A
n.3781G>A
 dbSNP gnomAD v2 gnomAD v4
15g.48756419T>ACA392343331CEP152c.2829A>T (p.Glu943Asp)
c.2550A>T (p.Glu850Asp)
c.870A>T (p.Glu290Asp)
c.864A>T (p.Glu288Asp)
n.3794A>T
n.3780A>T
15g.48756419T>CCA490311373CEP152c.2829A>G (p.Glu943=)
c.2550A>G (p.Glu850=)
c.870A>G (p.Glu290=)
c.864A>G (p.Glu288=)
n.3794A>G
n.3780A>G
 gnomAD v4
15g.48756419T>GCA392343332CEP152c.2829A>C (p.Glu943Asp)
c.2550A>C (p.Glu850Asp)
c.870A>C (p.Glu290Asp)
c.864A>C (p.Glu288Asp)
n.3794A>C
n.3780A>C
15g.48756420T>ACA392343333CEP152c.2828A>T (p.Glu943Val)
c.2549A>T (p.Glu850Val)
c.869A>T (p.Glu290Val)
c.863A>T (p.Glu288Val)
n.3793A>T
n.3779A>T
15g.48756420T>CCA7548467CEP152c.2828A>G (p.Glu943Gly)
c.2549A>G (p.Glu850Gly)
c.869A>G (p.Glu290Gly)
c.863A>G (p.Glu288Gly)
n.3793A>G
n.3779A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756420T>GCA392343334CEP152c.2828A>C (p.Glu943Ala)
c.2549A>C (p.Glu850Ala)
c.869A>C (p.Glu290Ala)
c.863A>C (p.Glu288Ala)
n.3793A>C
n.3779A>C
 COSMIC COSMIC
15g.48756420T=CA2175629244CEP152c.2828A= (p.Glu943=)
c.2549A= (p.Glu850=)
c.869A= (p.Glu290=)
c.863A= (p.Glu288=)
n.3793A=
n.3779A=
15g.48756421C>ACA392343336CEP152c.2827G>T (p.Glu943Ter)
c.2548G>T (p.Glu850Ter)
c.868G>T (p.Glu290Ter)
c.862G>T (p.Glu288Ter)
n.3792G>T
n.3778G>T
15g.48756421C=CA2175629251CEP152c.2827G= (p.Glu943=)
c.2548G= (p.Glu850=)
c.868G= (p.Glu290=)
c.862G= (p.Glu288=)
n.3792G=
n.3778G=
15g.48756421C>GCA392343335CEP152c.2827G>C (p.Glu943Gln)
c.2548G>C (p.Glu850Gln)
c.868G>C (p.Glu290Gln)
c.862G>C (p.Glu288Gln)
n.3792G>C
n.3778G>C
15g.48756421C>TCA211041CEP152c.2827G>A (p.Glu943Lys)
c.2548G>A (p.Glu850Lys)
c.868G>A (p.Glu290Lys)
c.862G>A (p.Glu288Lys)
n.3792G>A
n.3778G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756422G>ACA7548468CEP152c.2826C>T (p.Asn942=)
c.2547C>T (p.Asn849=)
c.867C>T (p.Asn289=)
c.861C>T (p.Asn287=)
n.3791C>T
n.3777C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756422G>CCA392343337CEP152c.2826C>G (p.Asn942Lys)
c.2547C>G (p.Asn849Lys)
c.867C>G (p.Asn289Lys)
c.861C>G (p.Asn287Lys)
n.3791C>G
n.3777C>G
15g.48756422G=CA2175629261CEP152c.2826C= (p.Asn942=)
c.2547C= (p.Asn849=)
c.867C= (p.Asn289=)
c.861C= (p.Asn287=)
n.3791C=
n.3777C=
15g.48756422G>TCA269538211CEP152c.2826C>A (p.Asn942Lys)
c.2547C>A (p.Asn849Lys)
c.867C>A (p.Asn289Lys)
c.861C>A (p.Asn287Lys)
n.3791C>A
n.3777C>A
 dbSNP gnomAD v2 gnomAD v4
15g.48756423T>ACA392343338CEP152c.2825A>T (p.Asn942Ile)
c.2546A>T (p.Asn849Ile)
c.866A>T (p.Asn289Ile)
c.860A>T (p.Asn287Ile)
n.3790A>T
n.3776A>T
15g.48756423T>CCA392343339CEP152c.2825A>G (p.Asn942Ser)
c.2546A>G (p.Asn849Ser)
c.866A>G (p.Asn289Ser)
c.860A>G (p.Asn287Ser)
n.3790A>G
n.3776A>G
15g.48756423T>GCA7548469CEP152c.2825A>C (p.Asn942Thr)
c.2546A>C (p.Asn849Thr)
c.866A>C (p.Asn289Thr)
c.860A>C (p.Asn287Thr)
n.3790A>C
n.3776A>C
 dbSNP ExAC gnomAD v2
15g.48756423T=CA2175629267CEP152c.2825A= (p.Asn942=)
c.2546A= (p.Asn849=)
c.866A= (p.Asn289=)
c.860A= (p.Asn287=)
n.3790A=
n.3776A=
15g.48756424T>ACA392343340CEP152c.2824A>T (p.Asn942Tyr)
c.2545A>T (p.Asn849Tyr)
c.865A>T (p.Asn289Tyr)
c.859A>T (p.Asn287Tyr)
n.3789A>T
n.3775A>T
15g.48756424T>CCA392343341CEP152c.2824A>G (p.Asn942Asp)
c.2545A>G (p.Asn849Asp)
c.865A>G (p.Asn289Asp)
c.859A>G (p.Asn287Asp)
n.3789A>G
n.3775A>G
15g.48756424T>GCA392343342CEP152c.2824A>C (p.Asn942His)
c.2545A>C (p.Asn849His)
c.865A>C (p.Asn289His)
c.859A>C (p.Asn287His)
n.3789A>C
n.3775A>C
15g.48756425C>ACA392343343CEP152c.2823G>T (p.Lys941Asn)
c.2544G>T (p.Lys848Asn)
c.864G>T (p.Lys288Asn)
c.858G>T (p.Lys286Asn)
n.3788G>T
n.3774G>T
 dbSNP gnomAD v3 gnomAD v4
15g.48756425C=CA2175629269CEP152c.2823G= (p.Lys941=)
c.2544G= (p.Lys848=)
c.864G= (p.Lys288=)
c.858G= (p.Lys286=)
n.3788G=
n.3774G=
15g.48756425C>GCA392343344CEP152c.2823G>C (p.Lys941Asn)
c.2544G>C (p.Lys848Asn)
c.864G>C (p.Lys288Asn)
c.858G>C (p.Lys286Asn)
n.3788G>C
n.3774G>C
15g.48756425C>TCA490311374CEP152c.2823G>A (p.Lys941=)
c.2544G>A (p.Lys848=)
c.864G>A (p.Lys288=)
c.858G>A (p.Lys286=)
n.3788G>A
n.3774G>A
15g.48756426T>ACA392343346CEP152c.2822A>T (p.Lys941Met)
c.2543A>T (p.Lys848Met)
c.863A>T (p.Lys288Met)
c.857A>T (p.Lys286Met)
n.3787A>T
n.3773A>T
15g.48756426T>CCA392343347CEP152c.2822A>G (p.Lys941Arg)
c.2543A>G (p.Lys848Arg)
c.863A>G (p.Lys288Arg)
c.857A>G (p.Lys286Arg)
n.3787A>G
n.3773A>G
15g.48756426T>GCA392343345CEP152c.2822A>C (p.Lys941Thr)
c.2543A>C (p.Lys848Thr)
c.863A>C (p.Lys288Thr)
c.857A>C (p.Lys286Thr)
n.3787A>C
n.3773A>C
15g.48756427T>ACA392343348CEP152c.2821A>T (p.Lys941Ter)
c.2542A>T (p.Lys848Ter)
c.862A>T (p.Lys288Ter)
c.856A>T (p.Lys286Ter)
n.3786A>T
n.3772A>T
15g.48756427T>CCA392343349CEP152c.2821A>G (p.Lys941Glu)
c.2542A>G (p.Lys848Glu)
c.862A>G (p.Lys288Glu)
c.856A>G (p.Lys286Glu)
n.3786A>G
n.3772A>G
15g.48756427T>GCA392343350CEP152c.2821A>C (p.Lys941Gln)
c.2542A>C (p.Lys848Gln)
c.862A>C (p.Lys288Gln)
c.856A>C (p.Lys286Gln)
n.3786A>C
n.3772A>C
 COSMIC
15g.48756428T>ACA392343351CEP152c.2820A>T (p.Leu940Phe)
c.2541A>T (p.Leu847Phe)
c.861A>T (p.Leu287Phe)
c.855A>T (p.Leu285Phe)
n.3785A>T
n.3771A>T
15g.48756428T>CCA490311375CEP152c.2820A>G (p.Leu940=)
c.2541A>G (p.Leu847=)
c.861A>G (p.Leu287=)
c.855A>G (p.Leu285=)
n.3785A>G
n.3771A>G
 dbSNP gnomAD v4
15g.48756428T>GCA392343352CEP152c.2820A>C (p.Leu940Phe)
c.2541A>C (p.Leu847Phe)
c.861A>C (p.Leu287Phe)
c.855A>C (p.Leu285Phe)
n.3785A>C
n.3771A>C
15g.48756428T=CA2175629272CEP152c.2820A= (p.Leu940=)
c.2541A= (p.Leu847=)
c.861A= (p.Leu287=)
c.855A= (p.Leu285=)
n.3785A=
n.3771A=
15g.48756429A>CCA392343353CEP152c.2819T>G (p.Leu940Ter)
c.2540T>G (p.Leu847Ter)
c.860T>G (p.Leu287Ter)
c.854T>G (p.Leu285Ter)
n.3784T>G
n.3770T>G
15g.48756429A>GCA392343354CEP152c.2819T>C (p.Leu940Ser)
c.2540T>C (p.Leu847Ser)
c.860T>C (p.Leu287Ser)
c.854T>C (p.Leu285Ser)
n.3784T>C
n.3770T>C
15g.48756429A>TCA392343355CEP152c.2819T>A (p.Leu940Ter)
c.2540T>A (p.Leu847Ter)
c.860T>A (p.Leu287Ter)
c.854T>A (p.Leu285Ter)
n.3784T>A
n.3770T>A
15g.48756430A>CCA392343356CEP152c.2818T>G (p.Leu940Val)
c.2539T>G (p.Leu847Val)
c.859T>G (p.Leu287Val)
c.853T>G (p.Leu285Val)
n.3783T>G
n.3769T>G
15g.48756430A>GCA490311376CEP152c.2818T>C (p.Leu940=)
c.2539T>C (p.Leu847=)
c.859T>C (p.Leu287=)
c.853T>C (p.Leu285=)
n.3783T>C
n.3769T>C
15g.48756430A>TCA392343357CEP152c.2818T>A (p.Leu940Ile)
c.2539T>A (p.Leu847Ile)
c.859T>A (p.Leu287Ile)
c.853T>A (p.Leu285Ile)
n.3783T>A
n.3769T>A
15g.48756431C>ACA392343358CEP152c.2817G>T (p.Glu939Asp)
c.2538G>T (p.Glu846Asp)
c.858G>T (p.Glu286Asp)
c.852G>T (p.Glu284Asp)
n.3782G>T
n.3768G>T
15g.48756431C>GCA392343359CEP152c.2817G>C (p.Glu939Asp)
c.2538G>C (p.Glu846Asp)
c.858G>C (p.Glu286Asp)
c.852G>C (p.Glu284Asp)
n.3782G>C
n.3768G>C
15g.48756431C>TCA490311377CEP152c.2817G>A (p.Glu939=)
c.2538G>A (p.Glu846=)
c.858G>A (p.Glu286=)
c.852G>A (p.Glu284=)
n.3782G>A
n.3768G>A
15g.48756432T>ACA392343361CEP152c.2816A>T (p.Glu939Val)
c.2537A>T (p.Glu846Val)
c.857A>T (p.Glu286Val)
c.851A>T (p.Glu284Val)
n.3781A>T
n.3767A>T
15g.48756432T>CCA392343362CEP152c.2816A>G (p.Glu939Gly)
c.2537A>G (p.Glu846Gly)
c.857A>G (p.Glu286Gly)
c.851A>G (p.Glu284Gly)
n.3781A>G
n.3767A>G
15g.48756432T>GCA392343360CEP152c.2816A>C (p.Glu939Ala)
c.2537A>C (p.Glu846Ala)
c.857A>C (p.Glu286Ala)
c.851A>C (p.Glu284Ala)
n.3781A>C
n.3767A>C
15g.48756433C>ACA392343363CEP152c.2815G>T (p.Glu939Ter)
c.2536G>T (p.Glu846Ter)
c.856G>T (p.Glu286Ter)
c.850G>T (p.Glu284Ter)
n.3780G>T
n.3766G>T
15g.48756433C>GCA392343364CEP152c.2815G>C (p.Glu939Gln)
c.2536G>C (p.Glu846Gln)
c.856G>C (p.Glu286Gln)
c.850G>C (p.Glu284Gln)
n.3780G>C
n.3766G>C
 gnomAD v4
15g.48756433C>TCA392343365CEP152c.2815G>A (p.Glu939Lys)
c.2536G>A (p.Glu846Lys)
c.856G>A (p.Glu286Lys)
c.850G>A (p.Glu284Lys)
n.3780G>A
n.3766G>A
15g.48756434A>CCA490311379CEP152c.2814T>G (p.Leu938=)
c.2535T>G (p.Leu845=)
c.855T>G (p.Leu285=)
c.849T>G (p.Leu283=)
n.3779T>G
n.3765T>G
 ClinVar
15g.48756434A>GCA490311381CEP152c.2814T>C (p.Leu938=)
c.2535T>C (p.Leu845=)
c.855T>C (p.Leu285=)
c.849T>C (p.Leu283=)
n.3779T>C
n.3765T>C
 dbSNP
15g.48756434A>TCA490311380CEP152c.2814T>A (p.Leu938=)
c.2535T>A (p.Leu845=)
c.855T>A (p.Leu285=)
c.849T>A (p.Leu283=)
n.3779T>A
n.3765T>A
15g.48756435A=CA2175629275CEP152c.2813T= (p.Leu938=)
c.2534T= (p.Leu845=)
c.854T= (p.Leu285=)
c.848T= (p.Leu283=)
n.3778T=
n.3764T=
15g.48756435A>CCA392343366CEP152c.2813T>G (p.Leu938Arg)
c.2534T>G (p.Leu845Arg)
c.854T>G (p.Leu285Arg)
c.848T>G (p.Leu283Arg)
n.3778T>G
n.3764T>G
15g.48756435A>GCA392343367CEP152c.2813T>C (p.Leu938Pro)
c.2534T>C (p.Leu845Pro)
c.854T>C (p.Leu285Pro)
c.848T>C (p.Leu283Pro)
n.3778T>C
n.3764T>C
 dbSNP
15g.48756435A>TCA392343368CEP152c.2813T>A (p.Leu938His)
c.2534T>A (p.Leu845His)
c.854T>A (p.Leu285His)
c.848T>A (p.Leu283His)
n.3778T>A
n.3764T>A
15g.48756436G>ACA392343371CEP152c.2812C>T (p.Leu938Phe)
c.2533C>T (p.Leu845Phe)
c.853C>T (p.Leu285Phe)
c.847C>T (p.Leu283Phe)
n.3777C>T
n.3763C>T
 gnomAD v4
15g.48756436G>CCA392343369CEP152c.2812C>G (p.Leu938Val)
c.2533C>G (p.Leu845Val)
c.853C>G (p.Leu285Val)
c.847C>G (p.Leu283Val)
n.3777C>G
n.3763C>G
 dbSNP gnomAD v4
15g.48756436G=CA2175629278CEP152c.2812C= (p.Leu938=)
c.2533C= (p.Leu845=)
c.853C= (p.Leu285=)
c.847C= (p.Leu283=)
n.3777C=
n.3763C=
15g.48756436G>TCA392343370CEP152c.2812C>A (p.Leu938Ile)
c.2533C>A (p.Leu845Ile)
c.853C>A (p.Leu285Ile)
c.847C>A (p.Leu283Ile)
n.3777C>A
n.3763C>A
15g.48756437T>ACA392343372CEP152c.2811A>T (p.Glu937Asp)
c.2532A>T (p.Glu844Asp)
c.852A>T (p.Glu284Asp)
c.846A>T (p.Glu282Asp)
n.3776A>T
n.3762A>T
15g.48756437T>CCA490311383CEP152c.2811A>G (p.Glu937=)
c.2532A>G (p.Glu844=)
c.852A>G (p.Glu284=)
c.846A>G (p.Glu282=)
n.3776A>G
n.3762A>G
 ClinVar gnomAD v4
15g.48756437T>GCA392343373CEP152c.2811A>C (p.Glu937Asp)
c.2532A>C (p.Glu844Asp)
c.852A>C (p.Glu284Asp)
c.846A>C (p.Glu282Asp)
n.3776A>C
n.3762A>C
15g.48756438T>ACA392343374CEP152c.2810A>T (p.Glu937Val)
c.2531A>T (p.Glu844Val)
c.851A>T (p.Glu284Val)
c.845A>T (p.Glu282Val)
n.3775A>T
n.3761A>T
15g.48756438T>CCA392343375CEP152c.2810A>G (p.Glu937Gly)
c.2531A>G (p.Glu844Gly)
c.851A>G (p.Glu284Gly)
c.845A>G (p.Glu282Gly)
n.3775A>G
n.3761A>G
15g.48756438T>GCA392343376CEP152c.2810A>C (p.Glu937Ala)
c.2531A>C (p.Glu844Ala)
c.851A>C (p.Glu284Ala)
c.845A>C (p.Glu282Ala)
n.3775A>C
n.3761A>C
15g.48756439C>ACA392343378CEP152c.2809G>T (p.Glu937Ter)
c.2530G>T (p.Glu844Ter)
c.850G>T (p.Glu284Ter)
c.844G>T (p.Glu282Ter)
n.3774G>T
n.3760G>T
15g.48756439C=CA2175629281CEP152c.2809G= (p.Glu937=)
c.2530G= (p.Glu844=)
c.850G= (p.Glu284=)
c.844G= (p.Glu282=)
n.3774G=
n.3760G=
15g.48756439C>GCA7548470CEP152c.2809G>C (p.Glu937Gln)
c.2530G>C (p.Glu844Gln)
c.850G>C (p.Glu284Gln)
c.844G>C (p.Glu282Gln)
n.3774G>C
n.3760G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756439C>TCA392343377CEP152c.2809G>A (p.Glu937Lys)
c.2530G>A (p.Glu844Lys)
c.850G>A (p.Glu284Lys)
c.844G>A (p.Glu282Lys)
n.3774G>A
n.3760G>A
15g.48756440C>ACA392343379CEP152c.2808G>T (p.Lys936Asn)
c.2529G>T (p.Lys843Asn)
c.849G>T (p.Lys283Asn)
c.843G>T (p.Lys281Asn)
n.3773G>T
n.3759G>T
15g.48756440C>GCA392343380CEP152c.2808G>C (p.Lys936Asn)
c.2529G>C (p.Lys843Asn)
c.849G>C (p.Lys283Asn)
c.843G>C (p.Lys281Asn)
n.3773G>C
n.3759G>C
15g.48756440C>TCA490311387CEP152c.2808G>A (p.Lys936=)
c.2529G>A (p.Lys843=)
c.849G>A (p.Lys283=)
c.843G>A (p.Lys281=)
n.3773G>A
n.3759G>A
15g.48756441T>ACA392343381CEP152c.2807A>T (p.Lys936Met)
c.2528A>T (p.Lys843Met)
c.848A>T (p.Lys283Met)
c.842A>T (p.Lys281Met)
n.3772A>T
n.3758A>T
15g.48756441T>CCA7548471CEP152c.2807A>G (p.Lys936Arg)
c.2528A>G (p.Lys843Arg)
c.848A>G (p.Lys283Arg)
c.842A>G (p.Lys281Arg)
n.3772A>G
n.3758A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756441T>GCA392343382CEP152c.2807A>C (p.Lys936Thr)
c.2528A>C (p.Lys843Thr)
c.848A>C (p.Lys283Thr)
c.842A>C (p.Lys281Thr)
n.3772A>C
n.3758A>C
15g.48756441T=CA2175629286CEP152c.2807A= (p.Lys936=)
c.2528A= (p.Lys843=)
c.848A= (p.Lys283=)
c.842A= (p.Lys281=)
n.3772A=
n.3758A=
15g.48756442T>ACA392343383CEP152c.2806A>T (p.Lys936Ter)
c.2527A>T (p.Lys843Ter)
c.847A>T (p.Lys283Ter)
c.841A>T (p.Lys281Ter)
n.3771A>T
n.3757A>T
15g.48756442T>CCA392343385CEP152c.2806A>G (p.Lys936Glu)
c.2527A>G (p.Lys843Glu)
c.847A>G (p.Lys283Glu)
c.841A>G (p.Lys281Glu)
n.3771A>G
n.3757A>G
15g.48756442T>GCA392343384CEP152c.2806A>C (p.Lys936Gln)
c.2527A>C (p.Lys843Gln)
c.847A>C (p.Lys283Gln)
c.841A>C (p.Lys281Gln)
n.3771A>C
n.3757A>C
15g.48756442T=CA2175629288CEP152c.2806A= (p.Lys936=)
c.2527A= (p.Lys843=)
c.847A= (p.Lys283=)
c.841A= (p.Lys281=)
n.3771A=
n.3757A=
15g.48756443C>ACA392343386CEP152c.2805G>T (p.Gln935His)
c.2526G>T (p.Gln842His)
c.846G>T (p.Gln282His)
c.840G>T (p.Gln280His)
n.3770G>T
n.3756G>T
 gnomAD v4
15g.48756443C>GCA392343387CEP152c.2805G>C (p.Gln935His)
c.2526G>C (p.Gln842His)
c.846G>C (p.Gln282His)
c.840G>C (p.Gln280His)
n.3770G>C
n.3756G>C
15g.48756443C>TCA490311390CEP152c.2805G>A (p.Gln935=)
c.2526G>A (p.Gln842=)
c.846G>A (p.Gln282=)
c.840G>A (p.Gln280=)
n.3770G>A
n.3756G>A
15g.48756443dupCA7548472CEP152c.2805dup (p.Lys936GlufsTer4)
c.2526dup (p.Lys843GlufsTer4)
c.846dup (p.Lys283GlufsTer4)
c.840dup (p.Lys281GlufsTer4)
n.3770dup
n.3756dup
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756444T>ACA392343388CEP152c.2804A>T (p.Gln935Leu)
c.2525A>T (p.Gln842Leu)
c.845A>T (p.Gln282Leu)
c.839A>T (p.Gln280Leu)
n.3769A>T
n.3755A>T
15g.48756444T>CCA7548473CEP152c.2804A>G (p.Gln935Arg)
c.2525A>G (p.Gln842Arg)
c.845A>G (p.Gln282Arg)
c.839A>G (p.Gln280Arg)
n.3769A>G
n.3755A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756444T>GCA392343389CEP152c.2804A>C (p.Gln935Pro)
c.2525A>C (p.Gln842Pro)
c.845A>C (p.Gln282Pro)
c.839A>C (p.Gln280Pro)
n.3769A>C
n.3755A>C
15g.48756444T=CA2175629298CEP152c.2804A= (p.Gln935=)
c.2525A= (p.Gln842=)
c.845A= (p.Gln282=)
c.839A= (p.Gln280=)
n.3769A=
n.3755A=
15g.48756444_48756445insTCACA618009412CEP152c.2803_2804insTGA (p.Gln935delinsLeuLys)
c.2524_2525insTGA (p.Gln842delinsLeuLys)
c.844_845insTGA (p.Gln282delinsLeuLys)
c.838_839insTGA (p.Gln280delinsLeuLys)
n.3768_3769insTGA
n.3754_3755insTGA
 dbSNP gnomAD v2 gnomAD v4
15g.48756445G>ACA392343390CEP152c.2803C>T (p.Gln935Ter)
c.2524C>T (p.Gln842Ter)
c.844C>T (p.Gln282Ter)
c.838C>T (p.Gln280Ter)
n.3768C>T
n.3754C>T
15g.48756445G>CCA392343391CEP152c.2803C>G (p.Gln935Glu)
c.2524C>G (p.Gln842Glu)
c.844C>G (p.Gln282Glu)
c.838C>G (p.Gln280Glu)
n.3768C>G
n.3754C>G
15g.48756445G>TCA392343392CEP152c.2803C>A (p.Gln935Lys)
c.2524C>A (p.Gln842Lys)
c.844C>A (p.Gln282Lys)
c.838C>A (p.Gln280Lys)
n.3768C>A
n.3754C>A
 gnomAD v4
15g.48756446A>CCA490311391CEP152c.2802T>G (p.Leu934=)
c.2523T>G (p.Leu841=)
c.843T>G (p.Leu281=)
c.837T>G (p.Leu279=)
n.3767T>G
n.3753T>G
15g.48756446A>GCA490311393CEP152c.2802T>C (p.Leu934=)
c.2523T>C (p.Leu841=)
c.843T>C (p.Leu281=)
c.837T>C (p.Leu279=)
n.3767T>C
n.3753T>C
15g.48756446A>TCA490311394CEP152c.2802T>A (p.Leu934=)
c.2523T>A (p.Leu841=)
c.843T>A (p.Leu281=)
c.837T>A (p.Leu279=)
n.3767T>A
n.3753T>A
15g.48756447A>CCA392343395CEP152c.2801T>G (p.Leu934Arg)
c.2522T>G (p.Leu841Arg)
c.842T>G (p.Leu281Arg)
c.836T>G (p.Leu279Arg)
n.3766T>G
n.3752T>G
15g.48756447A>GCA392343394CEP152c.2801T>C (p.Leu934Pro)
c.2522T>C (p.Leu841Pro)
c.842T>C (p.Leu281Pro)
c.836T>C (p.Leu279Pro)
n.3766T>C
n.3752T>C
15g.48756447A>TCA392343393CEP152c.2801T>A (p.Leu934His)
c.2522T>A (p.Leu841His)
c.842T>A (p.Leu281His)
c.836T>A (p.Leu279His)
n.3766T>A
n.3752T>A
15g.48756450_48756451delCA2628343539CEP152c.2800_2801del (p.Leu934SerfsTer5)
c.2521_2522del (p.Leu841SerfsTer5)
c.841_842del (p.Leu281SerfsTer5)
c.835_836del (p.Leu279SerfsTer5)
n.3765_3766del
n.3751_3752del
 gnomAD v4
15g.48756448G>ACA392343396CEP152c.2800C>T (p.Leu934Phe)
c.2521C>T (p.Leu841Phe)
c.841C>T (p.Leu281Phe)
c.835C>T (p.Leu279Phe)
n.3765C>T
n.3751C>T
 dbSNP COSMIC COSMIC
15g.48756448G>CCA392343397CEP152c.2800C>G (p.Leu934Val)
c.2521C>G (p.Leu841Val)
c.841C>G (p.Leu281Val)
c.835C>G (p.Leu279Val)
n.3765C>G
n.3751C>G
15g.48756448G=CA2175629305CEP152c.2800C= (p.Leu934=)
c.2521C= (p.Leu841=)
c.841C= (p.Leu281=)
c.835C= (p.Leu279=)
n.3765C=
n.3751C=
15g.48756448G>TCA392343398CEP152c.2800C>A (p.Leu934Ile)
c.2521C>A (p.Leu841Ile)
c.841C>A (p.Leu281Ile)
c.835C>A (p.Leu279Ile)
n.3765C>A
n.3751C>A
15g.48756449A>CCA490311396CEP152c.2799T>G (p.Ser933=)
c.2520T>G (p.Ser840=)
c.840T>G (p.Ser280=)
c.834T>G (p.Ser278=)
n.3764T>G
n.3750T>G
15g.48756449A>GCA490311398CEP152c.2799T>C (p.Ser933=)
c.2520T>C (p.Ser840=)
c.840T>C (p.Ser280=)
c.834T>C (p.Ser278=)
n.3764T>C
n.3750T>C
15g.48756449A>TCA490311397CEP152c.2799T>A (p.Ser933=)
c.2520T>A (p.Ser840=)
c.840T>A (p.Ser280=)
c.834T>A (p.Ser278=)
n.3764T>A
n.3750T>A
15g.48756450G>ACA392343399CEP152c.2798C>T (p.Ser933Phe)
c.2519C>T (p.Ser840Phe)
c.839C>T (p.Ser280Phe)
c.833C>T (p.Ser278Phe)
n.3763C>T
n.3749C>T
15g.48756450G>CCA392343400CEP152c.2798C>G (p.Ser933Cys)
c.2519C>G (p.Ser840Cys)
c.839C>G (p.Ser280Cys)
c.833C>G (p.Ser278Cys)
n.3763C>G
n.3749C>G
15g.48756450G>TCA392343401CEP152c.2798C>A (p.Ser933Tyr)
c.2519C>A (p.Ser840Tyr)
c.839C>A (p.Ser280Tyr)
c.833C>A (p.Ser278Tyr)
n.3763C>A
n.3749C>A
15g.48756451A=CA2175629308CEP152c.2797T= (p.Ser933=)
c.2518T= (p.Ser840=)
c.838T= (p.Ser280=)
c.832T= (p.Ser278=)
n.3762T=
n.3748T=
15g.48756451A>CCA392343402CEP152c.2797T>G (p.Ser933Ala)
c.2518T>G (p.Ser840Ala)
c.838T>G (p.Ser280Ala)
c.832T>G (p.Ser278Ala)
n.3762T>G
n.3748T>G
15g.48756451A>GCA269538239CEP152c.2797T>C (p.Ser933Pro)
c.2518T>C (p.Ser840Pro)
c.838T>C (p.Ser280Pro)
c.832T>C (p.Ser278Pro)
n.3762T>C
n.3748T>C
 dbSNP gnomAD v3 gnomAD v4
15g.48756451A>TCA392343403CEP152c.2797T>A (p.Ser933Thr)
c.2518T>A (p.Ser840Thr)
c.838T>A (p.Ser280Thr)
c.832T>A (p.Ser278Thr)
n.3762T>A
n.3748T>A
15g.48756452A=CA2175629312CEP152c.2796T= (p.His932=)
c.2517T= (p.His839=)
c.837T= (p.His279=)
c.831T= (p.His277=)
n.3761T=
n.3747T=
15g.48756452A>CCA269538246CEP152c.2796T>G (p.His932Gln)
c.2517T>G (p.His839Gln)
c.837T>G (p.His279Gln)
c.831T>G (p.His277Gln)
n.3761T>G
n.3747T>G
 dbSNP gnomAD v3 gnomAD v4
15g.48756452A>GCA490311399CEP152c.2796T>C (p.His932=)
c.2517T>C (p.His839=)
c.837T>C (p.His279=)
c.831T>C (p.His277=)
n.3761T>C
n.3747T>C
15g.48756452A>TCA392343404CEP152c.2796T>A (p.His932Gln)
c.2517T>A (p.His839Gln)
c.837T>A (p.His279Gln)
c.831T>A (p.His277Gln)
n.3761T>A
n.3747T>A
15g.48756453T>ACA392343406CEP152c.2795A>T (p.His932Leu)
c.2516A>T (p.His839Leu)
c.836A>T (p.His279Leu)
c.830A>T (p.His277Leu)
n.3760A>T
n.3746A>T
15g.48756453T>CCA392343407CEP152c.2795A>G (p.His932Arg)
c.2516A>G (p.His839Arg)
c.836A>G (p.His279Arg)
c.830A>G (p.His277Arg)
n.3760A>G
n.3746A>G
 gnomAD v4
15g.48756453T>GCA392343405CEP152c.2795A>C (p.His932Pro)
c.2516A>C (p.His839Pro)
c.836A>C (p.His279Pro)
c.830A>C (p.His277Pro)
n.3760A>C
n.3746A>C
15g.48756454G>ACA392343408CEP152c.2794C>T (p.His932Tyr)
c.2515C>T (p.His839Tyr)
c.835C>T (p.His279Tyr)
c.829C>T (p.His277Tyr)
n.3759C>T
n.3745C>T
15g.48756454G>CCA392343409CEP152c.2794C>G (p.His932Asp)
c.2515C>G (p.His839Asp)
c.835C>G (p.His279Asp)
c.829C>G (p.His277Asp)
n.3759C>G
n.3745C>G
 gnomAD v4
15g.48756454G>TCA392343410CEP152c.2794C>A (p.His932Asn)
c.2515C>A (p.His839Asn)
c.835C>A (p.His279Asn)
c.829C>A (p.His277Asn)
n.3759C>A
n.3745C>A
15g.48756455A>CCA392343411CEP152c.2793T>G (p.Ile931Met)
c.2514T>G (p.Ile838Met)
c.834T>G (p.Ile278Met)
c.828T>G (p.Ile276Met)
n.3758T>G
n.3744T>G
15g.48756455A>GCA490311403CEP152c.2793T>C (p.Ile931=)
c.2514T>C (p.Ile838=)
c.834T>C (p.Ile278=)
c.828T>C (p.Ile276=)
n.3758T>C
n.3744T>C
15g.48756455A>TCA490311402CEP152c.2793T>A (p.Ile931=)
c.2514T>A (p.Ile838=)
c.834T>A (p.Ile278=)
c.828T>A (p.Ile276=)
n.3758T>A
n.3744T>A
 ClinVar
15g.48756456A=CA2175629314CEP152c.2792T= (p.Ile931=)
c.2513T= (p.Ile838=)
c.833T= (p.Ile278=)
c.827T= (p.Ile276=)
n.3757T=
n.3743T=
15g.48756456A>CCA392343414CEP152c.2792T>G (p.Ile931Ser)
c.2513T>G (p.Ile838Ser)
c.833T>G (p.Ile278Ser)
c.827T>G (p.Ile276Ser)
n.3757T>G
n.3743T>G
 dbSNP
15g.48756456A>GCA392343413CEP152c.2792T>C (p.Ile931Thr)
c.2513T>C (p.Ile838Thr)
c.833T>C (p.Ile278Thr)
c.827T>C (p.Ile276Thr)
n.3757T>C
n.3743T>C
15g.48756456A>TCA392343412CEP152c.2792T>A (p.Ile931Asn)
c.2513T>A (p.Ile838Asn)
c.833T>A (p.Ile278Asn)
c.827T>A (p.Ile276Asn)
n.3757T>A
n.3743T>A
15g.48756457T>ACA392343415CEP152c.2791A>T (p.Ile931Phe)
c.2512A>T (p.Ile838Phe)
c.832A>T (p.Ile278Phe)
c.826A>T (p.Ile276Phe)
n.3756A>T
n.3742A>T
 gnomAD v4
15g.48756457T>CCA392343416CEP152c.2791A>G (p.Ile931Val)
c.2512A>G (p.Ile838Val)
c.832A>G (p.Ile278Val)
c.826A>G (p.Ile276Val)
n.3756A>G
n.3742A>G
 gnomAD v4
15g.48756457T>GCA392343417CEP152c.2791A>C (p.Ile931Leu)
c.2512A>C (p.Ile838Leu)
c.832A>C (p.Ile278Leu)
c.826A>C (p.Ile276Leu)
n.3756A>C
n.3742A>C
15g.48756458C>ACA392343418CEP152c.2790G>T (p.Lys930Asn)
c.2511G>T (p.Lys837Asn)
c.831G>T (p.Lys277Asn)
c.825G>T (p.Lys275Asn)
n.3755G>T
n.3741G>T
 dbSNP gnomAD v4
15g.48756458C=CA2175629320CEP152c.2790G= (p.Lys930=)
c.2511G= (p.Lys837=)
c.831G= (p.Lys277=)
c.825G= (p.Lys275=)
n.3755G=
n.3741G=
15g.48756458C>GCA7548474CEP152c.2790G>C (p.Lys930Asn)
c.2511G>C (p.Lys837Asn)
c.831G>C (p.Lys277Asn)
c.825G>C (p.Lys275Asn)
n.3755G>C
n.3741G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756458C>TCA7548475CEP152c.2790G>A (p.Lys930=)
c.2511G>A (p.Lys837=)
c.831G>A (p.Lys277=)
c.825G>A (p.Lys275=)
n.3755G>A
n.3741G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756459T>ACA392343419CEP152c.2789A>T (p.Lys930Met)
c.2510A>T (p.Lys837Met)
c.830A>T (p.Lys277Met)
c.824A>T (p.Lys275Met)
n.3754A>T
n.3740A>T
15g.48756459T>CCA392343421CEP152c.2789A>G (p.Lys930Arg)
c.2510A>G (p.Lys837Arg)
c.830A>G (p.Lys277Arg)
c.824A>G (p.Lys275Arg)
n.3754A>G
n.3740A>G
 gnomAD v4
15g.48756459T>GCA392343420CEP152c.2789A>C (p.Lys930Thr)
c.2510A>C (p.Lys837Thr)
c.830A>C (p.Lys277Thr)
c.824A>C (p.Lys275Thr)
n.3754A>C
n.3740A>C
15g.48756460T>ACA392343422CEP152c.2788A>T (p.Lys930Ter)
c.2509A>T (p.Lys837Ter)
c.829A>T (p.Lys277Ter)
c.823A>T (p.Lys275Ter)
n.3753A>T
n.3739A>T
15g.48756460T>CCA392343423CEP152c.2788A>G (p.Lys930Glu)
c.2509A>G (p.Lys837Glu)
c.829A>G (p.Lys277Glu)
c.823A>G (p.Lys275Glu)
n.3753A>G
n.3739A>G
15g.48756460T>GCA392343424CEP152c.2788A>C (p.Lys930Gln)
c.2509A>C (p.Lys837Gln)
c.829A>C (p.Lys277Gln)
c.823A>C (p.Lys275Gln)
n.3753A>C
n.3739A>C
15g.48756461C>ACA392343425CEP152c.2787G>T (p.Glu929Asp)
c.2508G>T (p.Glu836Asp)
c.828G>T (p.Glu276Asp)
c.822G>T (p.Glu274Asp)
n.3752G>T
n.3738G>T
15g.48756461C>GCA392343426CEP152c.2787G>C (p.Glu929Asp)
c.2508G>C (p.Glu836Asp)
c.828G>C (p.Glu276Asp)
c.822G>C (p.Glu274Asp)
n.3752G>C
n.3738G>C
15g.48756461C>TCA490311409CEP152c.2787G>A (p.Glu929=)
c.2508G>A (p.Glu836=)
c.828G>A (p.Glu276=)
c.822G>A (p.Glu274=)
n.3752G>A
n.3738G>A
15g.48756462T>ACA392343427CEP152c.2786A>T (p.Glu929Val)
c.2507A>T (p.Glu836Val)
c.827A>T (p.Glu276Val)
c.821A>T (p.Glu274Val)
n.3751A>T
n.3737A>T
15g.48756462T>CCA392343428CEP152c.2786A>G (p.Glu929Gly)
c.2507A>G (p.Glu836Gly)
c.827A>G (p.Glu276Gly)
c.821A>G (p.Glu274Gly)
n.3751A>G
n.3737A>G
 gnomAD v4
15g.48756462T>GCA392343429CEP152c.2786A>C (p.Glu929Ala)
c.2507A>C (p.Glu836Ala)
c.827A>C (p.Glu276Ala)
c.821A>C (p.Glu274Ala)
n.3751A>C
n.3737A>C
15g.48756463C>ACA392343430CEP152c.2785G>T (p.Glu929Ter)
c.2506G>T (p.Glu836Ter)
c.826G>T (p.Glu276Ter)
c.820G>T (p.Glu274Ter)
n.3750G>T
n.3736G>T
15g.48756463C>GCA392343431CEP152c.2785G>C (p.Glu929Gln)
c.2506G>C (p.Glu836Gln)
c.826G>C (p.Glu276Gln)
c.820G>C (p.Glu274Gln)
n.3750G>C
n.3736G>C
15g.48756463C>TCA392343432CEP152c.2785G>A (p.Glu929Lys)
c.2506G>A (p.Glu836Lys)
c.826G>A (p.Glu276Lys)
c.820G>A (p.Glu274Lys)
n.3750G>A
n.3736G>A
15g.48756464T>ACA392343434CEP152c.2784A>T (p.Glu928Asp)
c.2505A>T (p.Glu835Asp)
c.825A>T (p.Glu275Asp)
c.819A>T (p.Glu273Asp)
n.3749A>T
n.3735A>T
15g.48756464T>CCA490311411CEP152c.2784A>G (p.Glu928=)
c.2505A>G (p.Glu835=)
c.825A>G (p.Glu275=)
c.819A>G (p.Glu273=)
n.3749A>G
n.3735A>G
15g.48756464T>GCA392343433CEP152c.2784A>C (p.Glu928Asp)
c.2505A>C (p.Glu835Asp)
c.825A>C (p.Glu275Asp)
c.819A>C (p.Glu273Asp)
n.3749A>C
n.3735A>C
15g.48756465T>ACA392343435CEP152c.2783A>T (p.Glu928Val)
c.2504A>T (p.Glu835Val)
c.824A>T (p.Glu275Val)
c.818A>T (p.Glu273Val)
n.3748A>T
n.3734A>T
15g.48756465T>CCA392343436CEP152c.2783A>G (p.Glu928Gly)
c.2504A>G (p.Glu835Gly)
c.824A>G (p.Glu275Gly)
c.818A>G (p.Glu273Gly)
n.3748A>G
n.3734A>G
15g.48756465T>GCA392343437CEP152c.2783A>C (p.Glu928Ala)
c.2504A>C (p.Glu835Ala)
c.824A>C (p.Glu275Ala)
c.818A>C (p.Glu273Ala)
n.3748A>C
n.3734A>C
 dbSNP
15g.48756465T=CA2175629326CEP152c.2783A= (p.Glu928=)
c.2504A= (p.Glu835=)
c.824A= (p.Glu275=)
c.818A= (p.Glu273=)
n.3748A=
n.3734A=
15g.48756466C>ACA392343438CEP152c.2782G>T (p.Glu928Ter)
c.2503G>T (p.Glu835Ter)
c.823G>T (p.Glu275Ter)
c.817G>T (p.Glu273Ter)
n.3747G>T
n.3733G>T
15g.48756466C>GCA392343439CEP152c.2782G>C (p.Glu928Gln)
c.2503G>C (p.Glu835Gln)
c.823G>C (p.Glu275Gln)
c.817G>C (p.Glu273Gln)
n.3747G>C
n.3733G>C
15g.48756466C>TCA392343440CEP152c.2782G>A (p.Glu928Lys)
c.2503G>A (p.Glu835Lys)
c.823G>A (p.Glu275Lys)
c.817G>A (p.Glu273Lys)
n.3747G>A
n.3733G>A
15g.48756467C>ACA392343441CEP152c.2781G>T (p.Leu927Phe)
c.2502G>T (p.Leu834Phe)
c.822G>T (p.Leu274Phe)
c.816G>T (p.Leu272Phe)
n.3746G>T
n.3732G>T
15g.48756467C>GCA392343442CEP152c.2781G>C (p.Leu927Phe)
c.2502G>C (p.Leu834Phe)
c.822G>C (p.Leu274Phe)
c.816G>C (p.Leu272Phe)
n.3746G>C
n.3732G>C
 COSMIC COSMIC
15g.48756467C>TCA490311414CEP152c.2781G>A (p.Leu927=)
c.2502G>A (p.Leu834=)
c.822G>A (p.Leu274=)
c.816G>A (p.Leu272=)
n.3746G>A
n.3732G>A
 gnomAD v4
15g.48756468A>CCA392343443CEP152c.2780T>G (p.Leu927Trp)
c.2501T>G (p.Leu834Trp)
c.821T>G (p.Leu274Trp)
c.815T>G (p.Leu272Trp)
n.3745T>G
n.3731T>G
15g.48756468A>GCA392343445CEP152c.2780T>C (p.Leu927Ser)
c.2501T>C (p.Leu834Ser)
c.821T>C (p.Leu274Ser)
c.815T>C (p.Leu272Ser)
n.3745T>C
n.3731T>C
15g.48756468A>TCA392343444CEP152c.2780T>A (p.Leu927Ter)
c.2501T>A (p.Leu834Ter)
c.821T>A (p.Leu274Ter)
c.815T>A (p.Leu272Ter)
n.3745T>A
n.3731T>A
15g.48756469A=CA2175629328CEP152c.2779T= (p.Leu927=)
c.2500T= (p.Leu834=)
c.820T= (p.Leu274=)
c.814T= (p.Leu272=)
n.3744T=
n.3730T=
15g.48756469A>CCA392343446CEP152c.2779T>G (p.Leu927Val)
c.2500T>G (p.Leu834Val)
c.820T>G (p.Leu274Val)
c.814T>G (p.Leu272Val)
n.3744T>G
n.3730T>G
15g.48756469A>GCA490311415CEP152c.2779T>C (p.Leu927=)
c.2500T>C (p.Leu834=)
c.820T>C (p.Leu274=)
c.814T>C (p.Leu272=)
n.3744T>C
n.3730T>C
 dbSNP gnomAD v4
15g.48756469A>TCA392343447CEP152c.2779T>A (p.Leu927Met)
c.2500T>A (p.Leu834Met)
c.820T>A (p.Leu274Met)
c.814T>A (p.Leu272Met)
n.3744T>A
n.3730T>A
15g.48756470T>ACA392343448CEP152c.2778A>T (p.Glu926Asp)
c.2499A>T (p.Glu833Asp)
c.819A>T (p.Glu273Asp)
c.813A>T (p.Glu271Asp)
n.3743A>T
n.3729A>T
15g.48756470T>CCA490311418CEP152c.2778A>G (p.Glu926=)
c.2499A>G (p.Glu833=)
c.819A>G (p.Glu273=)
c.813A>G (p.Glu271=)
n.3743A>G
n.3729A>G
15g.48756470T>GCA392343449CEP152c.2778A>C (p.Glu926Asp)
c.2499A>C (p.Glu833Asp)
c.819A>C (p.Glu273Asp)
c.813A>C (p.Glu271Asp)
n.3743A>C
n.3729A>C
15g.48756471T>ACA211038CEP152c.2777A>T (p.Glu926Val)
c.2498A>T (p.Glu833Val)
c.818A>T (p.Glu273Val)
c.812A>T (p.Glu271Val)
n.3742A>T
n.3728A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756471T>CCA392343451CEP152c.2777A>G (p.Glu926Gly)
c.2498A>G (p.Glu833Gly)
c.818A>G (p.Glu273Gly)
c.812A>G (p.Glu271Gly)
n.3742A>G
n.3728A>G
15g.48756471T>GCA392343450CEP152c.2777A>C (p.Glu926Ala)
c.2498A>C (p.Glu833Ala)
c.818A>C (p.Glu273Ala)
c.812A>C (p.Glu271Ala)
n.3742A>C
n.3728A>C
15g.48756471T=CA2175629333CEP152c.2777A= (p.Glu926=)
c.2498A= (p.Glu833=)
c.818A= (p.Glu273=)
c.812A= (p.Glu271=)
n.3742A=
n.3728A=
15g.48756472C>ACA392343452CEP152c.2776G>T (p.Glu926Ter)
c.2497G>T (p.Glu833Ter)
c.817G>T (p.Glu273Ter)
c.811G>T (p.Glu271Ter)
n.3741G>T
n.3727G>T
 dbSNP
15g.48756472C=CA2175629336CEP152c.2776G= (p.Glu926=)
c.2497G= (p.Glu833=)
c.817G= (p.Glu273=)
c.811G= (p.Glu271=)
n.3741G=
n.3727G=
15g.48756472C>GCA392343453CEP152c.2776G>C (p.Glu926Gln)
c.2497G>C (p.Glu833Gln)
c.817G>C (p.Glu273Gln)
c.811G>C (p.Glu271Gln)
n.3741G>C
n.3727G>C
15g.48756472C>TCA392343454CEP152c.2776G>A (p.Glu926Lys)
c.2497G>A (p.Glu833Lys)
c.817G>A (p.Glu273Lys)
c.811G>A (p.Glu271Lys)
n.3741G>A
n.3727G>A
15g.48756473C>ACA392343455CEP152c.2775G>T (p.Lys925Asn)
c.2496G>T (p.Lys832Asn)
c.816G>T (p.Lys272Asn)
c.810G>T (p.Lys270Asn)
n.3740G>T
n.3726G>T
15g.48756473C>GCA392343456CEP152c.2775G>C (p.Lys925Asn)
c.2496G>C (p.Lys832Asn)
c.816G>C (p.Lys272Asn)
c.810G>C (p.Lys270Asn)
n.3740G>C
n.3726G>C
15g.48756473C>TCA490311419CEP152c.2775G>A (p.Lys925=)
c.2496G>A (p.Lys832=)
c.816G>A (p.Lys272=)
c.810G>A (p.Lys270=)
n.3740G>A
n.3726G>A
15g.48756474T>ACA392343457CEP152c.2774A>T (p.Lys925Met)
c.2495A>T (p.Lys832Met)
c.815A>T (p.Lys272Met)
c.809A>T (p.Lys270Met)
n.3739A>T
n.3725A>T
15g.48756474T>CCA392343458CEP152c.2774A>G (p.Lys925Arg)
c.2495A>G (p.Lys832Arg)
c.815A>G (p.Lys272Arg)
c.809A>G (p.Lys270Arg)
n.3739A>G
n.3725A>G
15g.48756474T>GCA392343459CEP152c.2774A>C (p.Lys925Thr)
c.2495A>C (p.Lys832Thr)
c.815A>C (p.Lys272Thr)
c.809A>C (p.Lys270Thr)
n.3739A>C
n.3725A>C
15g.48756475T>ACA392343460CEP152c.2773A>T (p.Lys925Ter)
c.2494A>T (p.Lys832Ter)
c.814A>T (p.Lys272Ter)
c.808A>T (p.Lys270Ter)
n.3738A>T
n.3724A>T
15g.48756475T>CCA392343461CEP152c.2773A>G (p.Lys925Glu)
c.2494A>G (p.Lys832Glu)
c.814A>G (p.Lys272Glu)
c.808A>G (p.Lys270Glu)
n.3738A>G
n.3724A>G
15g.48756475T>GCA392343462CEP152c.2773A>C (p.Lys925Gln)
c.2494A>C (p.Lys832Gln)
c.814A>C (p.Lys272Gln)
c.808A>C (p.Lys270Gln)
n.3738A>C
n.3724A>C
 gnomAD v4
15g.48756476T>ACA490311421CEP152c.2772A>T (p.Gly924=)
c.2493A>T (p.Gly831=)
c.813A>T (p.Gly271=)
c.807A>T (p.Gly269=)
n.3737A>T
n.3723A>T
15g.48756476T>CCA7548476CEP152c.2772A>G (p.Gly924=)
c.2493A>G (p.Gly831=)
c.813A>G (p.Gly271=)
c.807A>G (p.Gly269=)
n.3737A>G
n.3723A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756476T>GCA490311422CEP152c.2772A>C (p.Gly924=)
c.2493A>C (p.Gly831=)
c.813A>C (p.Gly271=)
c.807A>C (p.Gly269=)
n.3737A>C
n.3723A>C
15g.48756476T=CA2175629341CEP152c.2772A= (p.Gly924=)
c.2493A= (p.Gly831=)
c.813A= (p.Gly271=)
c.807A= (p.Gly269=)
n.3737A=
n.3723A=
15g.48756477C>ACA392343463CEP152c.2771G>T (p.Gly924Val)
c.2492G>T (p.Gly831Val)
c.812G>T (p.Gly271Val)
c.806G>T (p.Gly269Val)
n.3736G>T
n.3722G>T
15g.48756477C>GCA392343465CEP152c.2771G>C (p.Gly924Ala)
c.2492G>C (p.Gly831Ala)
c.812G>C (p.Gly271Ala)
c.806G>C (p.Gly269Ala)
n.3736G>C
n.3722G>C
15g.48756477C>TCA392343464CEP152c.2771G>A (p.Gly924Glu)
c.2492G>A (p.Gly831Glu)
c.812G>A (p.Gly271Glu)
c.806G>A (p.Gly269Glu)
n.3736G>A
n.3722G>A
15g.48756478C>ACA392343466CEP152c.2770G>T (p.Gly924Ter)
c.2491G>T (p.Gly831Ter)
c.811G>T (p.Gly271Ter)
c.805G>T (p.Gly269Ter)
n.3735G>T
n.3721G>T
15g.48756478C>GCA392343467CEP152c.2770G>C (p.Gly924Arg)
c.2491G>C (p.Gly831Arg)
c.811G>C (p.Gly271Arg)
c.805G>C (p.Gly269Arg)
n.3735G>C
n.3721G>C
15g.48756478C>TCA392343468CEP152c.2770G>A (p.Gly924Arg)
c.2491G>A (p.Gly831Arg)
c.811G>A (p.Gly271Arg)
c.805G>A (p.Gly269Arg)
n.3735G>A
n.3721G>A
 gnomAD v4
15g.48756479A>CCA490311425CEP152c.2769T>G (p.Pro923=)
c.2490T>G (p.Pro830=)
c.810T>G (p.Pro270=)
c.804T>G (p.Pro268=)
n.3734T>G
n.3720T>G
15g.48756479A>GCA490311426CEP152c.2769T>C (p.Pro923=)
c.2490T>C (p.Pro830=)
c.810T>C (p.Pro270=)
c.804T>C (p.Pro268=)
n.3734T>C
n.3720T>C
15g.48756479A>TCA490311427CEP152c.2769T>A (p.Pro923=)
c.2490T>A (p.Pro830=)
c.810T>A (p.Pro270=)
c.804T>A (p.Pro268=)
n.3734T>A
n.3720T>A
15g.48756480G>ACA7548477CEP152c.2768C>T (p.Pro923Leu)
c.2489C>T (p.Pro830Leu)
c.809C>T (p.Pro270Leu)
c.803C>T (p.Pro268Leu)
n.3733C>T
n.3719C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756480G>CCA392343469CEP152c.2768C>G (p.Pro923Arg)
c.2489C>G (p.Pro830Arg)
c.809C>G (p.Pro270Arg)
c.803C>G (p.Pro268Arg)
n.3733C>G
n.3719C>G
 gnomAD v4
15g.48756480G=CA2175629344CEP152c.2768C= (p.Pro923=)
c.2489C= (p.Pro830=)
c.809C= (p.Pro270=)
c.803C= (p.Pro268=)
n.3733C=
n.3719C=
15g.48756480G>TCA392343470CEP152c.2768C>A (p.Pro923His)
c.2489C>A (p.Pro830His)
c.809C>A (p.Pro270His)
c.803C>A (p.Pro268His)
n.3733C>A
n.3719C>A
15g.48756481G>ACA392343471CEP152c.2767C>T (p.Pro923Ser)
c.2488C>T (p.Pro830Ser)
c.808C>T (p.Pro270Ser)
c.802C>T (p.Pro268Ser)
n.3732C>T
n.3718C>T
 dbSNP gnomAD v4
15g.48756481G>CCA392343472CEP152c.2767C>G (p.Pro923Ala)
c.2488C>G (p.Pro830Ala)
c.808C>G (p.Pro270Ala)
c.802C>G (p.Pro268Ala)
n.3732C>G
n.3718C>G
15g.48756481G=CA2175629348CEP152c.2767C= (p.Pro923=)
c.2488C= (p.Pro830=)
c.808C= (p.Pro270=)
c.802C= (p.Pro268=)
n.3732C=
n.3718C=
15g.48756481G>TCA392343473CEP152c.2767C>A (p.Pro923Thr)
c.2488C>A (p.Pro830Thr)
c.808C>A (p.Pro270Thr)
c.802C>A (p.Pro268Thr)
n.3732C>A
n.3718C>A
15g.48756482A>CCA490311429CEP152c.2766T>G (p.Leu922=)
c.2487T>G (p.Leu829=)
c.807T>G (p.Leu269=)
c.801T>G (p.Leu267=)
n.3731T>G
n.3717T>G
15g.48756482A>GCA490311430CEP152c.2766T>C (p.Leu922=)
c.2487T>C (p.Leu829=)
c.807T>C (p.Leu269=)
c.801T>C (p.Leu267=)
n.3731T>C
n.3717T>C
15g.48756482A>TCA490311431CEP152c.2766T>A (p.Leu922=)
c.2487T>A (p.Leu829=)
c.807T>A (p.Leu269=)
c.801T>A (p.Leu267=)
n.3731T>A
n.3717T>A
15g.48756483delCA2556793499CEP152c.2766del (p.Pro923LeufsTer18)
c.2487del (p.Pro830LeufsTer18)
c.807del (p.Pro270LeufsTer18)
c.801del (p.Pro268LeufsTer18)
n.3731del
n.3717del
15g.48756483A=CA2175629351CEP152c.2765T= (p.Leu922=)
c.2486T= (p.Leu829=)
c.806T= (p.Leu269=)
c.800T= (p.Leu267=)
n.3730T=
n.3716T=
15g.48756483A>CCA392343474CEP152c.2765T>G (p.Leu922Arg)
c.2486T>G (p.Leu829Arg)
c.806T>G (p.Leu269Arg)
c.800T>G (p.Leu267Arg)
n.3730T>G
n.3716T>G
 dbSNP gnomAD v3 gnomAD v4
15g.48756483A>GCA392343475CEP152c.2765T>C (p.Leu922Pro)
c.2486T>C (p.Leu829Pro)
c.806T>C (p.Leu269Pro)
c.800T>C (p.Leu267Pro)
n.3730T>C
n.3716T>C
15g.48756483A>TCA392343476CEP152c.2765T>A (p.Leu922His)
c.2486T>A (p.Leu829His)
c.806T>A (p.Leu269His)
c.800T>A (p.Leu267His)
n.3730T>A
n.3716T>A
15g.48756484G>ACA392343478CEP152c.2764C>T (p.Leu922Phe)
c.2485C>T (p.Leu829Phe)
c.805C>T (p.Leu269Phe)
c.799C>T (p.Leu267Phe)
n.3729C>T
n.3715C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48756484G>CCA392343477CEP152c.2764C>G (p.Leu922Val)
c.2485C>G (p.Leu829Val)
c.805C>G (p.Leu269Val)
c.799C>G (p.Leu267Val)
n.3729C>G
n.3715C>G
15g.48756484G=CA2175629356CEP152c.2764C= (p.Leu922=)
c.2485C= (p.Leu829=)
c.805C= (p.Leu269=)
c.799C= (p.Leu267=)
n.3729C=
n.3715C=
15g.48756484G>TCA7548478CEP152c.2764C>A (p.Leu922Ile)
c.2485C>A (p.Leu829Ile)
c.805C>A (p.Leu269Ile)
c.799C>A (p.Leu267Ile)
n.3729C>A
n.3715C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756485T>ACA490311433CEP152c.2763A>T (p.Ile921=)
c.2484A>T (p.Ile828=)
c.804A>T (p.Ile268=)
c.798A>T (p.Ile266=)
n.3728A>T
n.3714A>T
15g.48756485T>CCA392343479CEP152c.2763A>G (p.Ile921Met)
c.2484A>G (p.Ile828Met)
c.804A>G (p.Ile268Met)
c.798A>G (p.Ile266Met)
n.3728A>G
n.3714A>G
 gnomAD v4 COSMIC COSMIC
15g.48756485T>GCA490311434CEP152c.2763A>C (p.Ile921=)
c.2484A>C (p.Ile828=)
c.804A>C (p.Ile268=)
c.798A>C (p.Ile266=)
n.3728A>C
n.3714A>C
15g.48756485_48756486insGCA2532109999CEP152c.2762_2763insC (p.Leu922ThrfsTer18)
c.2483_2484insC (p.Leu829ThrfsTer18)
c.803_804insC (p.Leu269ThrfsTer18)
c.797_798insC (p.Leu267ThrfsTer18)
n.3727_3728insC
n.3713_3714insC
15g.48756486A=CA2175629359CEP152c.2762T= (p.Ile921=)
c.2483T= (p.Ile828=)
c.803T= (p.Ile268=)
c.797T= (p.Ile266=)
n.3727T=
n.3713T=
15g.48756486A>CCA392343480CEP152c.2762T>G (p.Ile921Arg)
c.2483T>G (p.Ile828Arg)
c.803T>G (p.Ile268Arg)
c.797T>G (p.Ile266Arg)
n.3727T>G
n.3713T>G
 gnomAD v4
15g.48756486A>GCA392343481CEP152c.2762T>C (p.Ile921Thr)
c.2483T>C (p.Ile828Thr)
c.803T>C (p.Ile268Thr)
c.797T>C (p.Ile266Thr)
n.3727T>C
n.3713T>C
 dbSNP gnomAD v3 gnomAD v4
15g.48756486A>TCA392343482CEP152c.2762T>A (p.Ile921Lys)
c.2483T>A (p.Ile828Lys)
c.803T>A (p.Ile268Lys)
c.797T>A (p.Ile266Lys)
n.3727T>A
n.3713T>A
15g.48756487T>ACA392343483CEP152c.2761A>T (p.Ile921Leu)
c.2482A>T (p.Ile828Leu)
c.802A>T (p.Ile268Leu)
c.796A>T (p.Ile266Leu)
n.3726A>T
n.3712A>T
15g.48756487T>CCA392343484CEP152c.2761A>G (p.Ile921Val)
c.2482A>G (p.Ile828Val)
c.802A>G (p.Ile268Val)
c.796A>G (p.Ile266Val)
n.3726A>G
n.3712A>G
15g.48756487T>GCA392343485CEP152c.2761A>C (p.Ile921Leu)
c.2482A>C (p.Ile828Leu)
c.802A>C (p.Ile268Leu)
c.796A>C (p.Ile266Leu)
n.3726A>C
n.3712A>C
15g.48756488A=CA2175629362CEP152c.2760T= (p.Asn920=)
c.2481T= (p.Asn827=)
c.801T= (p.Asn267=)
c.795T= (p.Asn265=)
n.3725T=
n.3711T=
15g.48756488A>CCA392343486CEP152c.2760T>G (p.Asn920Lys)
c.2481T>G (p.Asn827Lys)
c.801T>G (p.Asn267Lys)
c.795T>G (p.Asn265Lys)
n.3725T>G
n.3711T>G
15g.48756488A>GCA490311435CEP152c.2760T>C (p.Asn920=)
c.2481T>C (p.Asn827=)
c.801T>C (p.Asn267=)
c.795T>C (p.Asn265=)
n.3725T>C
n.3711T>C
 dbSNP gnomAD v3 gnomAD v4
15g.48756488A>TCA392343487CEP152c.2760T>A (p.Asn920Lys)
c.2481T>A (p.Asn827Lys)
c.801T>A (p.Asn267Lys)
c.795T>A (p.Asn265Lys)
n.3725T>A
n.3711T>A
15g.48756489T>ACA392343488CEP152c.2759A>T (p.Asn920Ile)
c.2480A>T (p.Asn827Ile)
c.800A>T (p.Asn267Ile)
c.794A>T (p.Asn265Ile)
n.3724A>T
n.3710A>T
 COSMIC COSMIC
15g.48756489T>CCA392343489CEP152c.2759A>G (p.Asn920Ser)
c.2480A>G (p.Asn827Ser)
c.800A>G (p.Asn267Ser)
c.794A>G (p.Asn265Ser)
n.3724A>G
n.3710A>G
 gnomAD v4
15g.48756489T>GCA392343490CEP152c.2759A>C (p.Asn920Thr)
c.2480A>C (p.Asn827Thr)
c.800A>C (p.Asn267Thr)
c.794A>C (p.Asn265Thr)
n.3724A>C
n.3710A>C
15g.48756493dupCA2628343555CEP152c.2759dup (p.Asn920LysfsTer20)
c.2480dup (p.Asn827LysfsTer20)
c.800dup (p.Asn267LysfsTer20)
c.794dup (p.Asn265LysfsTer20)
n.3724dup
n.3710dup
 gnomAD v4
15g.48756490T>ACA392343492CEP152c.2758A>T (p.Asn920Tyr)
c.2479A>T (p.Asn827Tyr)
c.799A>T (p.Asn267Tyr)
c.793A>T (p.Asn265Tyr)
n.3723A>T
n.3709A>T
15g.48756490T>CCA392343493CEP152c.2758A>G (p.Asn920Asp)
c.2479A>G (p.Asn827Asp)
c.799A>G (p.Asn267Asp)
c.793A>G (p.Asn265Asp)
n.3723A>G
n.3709A>G
15g.48756490T>GCA392343491CEP152c.2758A>C (p.Asn920His)
c.2479A>C (p.Asn827His)
c.799A>C (p.Asn267His)
c.793A>C (p.Asn265His)
n.3723A>C
n.3709A>C
 dbSNP gnomAD v2 gnomAD v4
15g.48756490T=CA2175629366CEP152c.2758A= (p.Asn920=)
c.2479A= (p.Asn827=)
c.799A= (p.Asn267=)
c.793A= (p.Asn265=)
n.3723A=
n.3709A=
15g.48756491T>ACA392343495CEP152c.2757A>T (p.Lys919Asn)
c.2478A>T (p.Lys826Asn)
c.798A>T (p.Lys266Asn)
c.792A>T (p.Lys264Asn)
n.3722A>T
n.3708A>T
15g.48756491T>CCA490036620CEP152c.2757A>G (p.Lys919=)
c.2478A>G (p.Lys826=)
c.798A>G (p.Lys266=)
c.792A>G (p.Lys264=)
n.3722A>G
n.3708A>G
 dbSNP gnomAD v2 gnomAD v4
15g.48756491T>GCA392343494CEP152c.2757A>C (p.Lys919Asn)
c.2478A>C (p.Lys826Asn)
c.798A>C (p.Lys266Asn)
c.792A>C (p.Lys264Asn)
n.3722A>C
n.3708A>C
 dbSNP gnomAD v3 gnomAD v4
15g.48756491T=CA2175629371CEP152c.2757A= (p.Lys919=)
c.2478A= (p.Lys826=)
c.798A= (p.Lys266=)
c.792A= (p.Lys264=)
n.3722A=
n.3708A=

Number of alleles fetched