Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21002845G>A | CA345970933 | APOB | c.12577C>T (p.Leu4193Phe) c.5870-3572C>T (n.5870-3572C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21002845G>C | CA345970934 | APOB | c.12577C>G (p.Leu4193Val) c.5870-3572C>G (n.5870-3572C>G) | |
2 | g.21002845G= | CA2493473167 | APOB | c.12577C= (p.Leu4193=) c.5870-3572C= (n.5870-3572C=) | |
2 | g.21002845G>T | CA345970935 | APOB | c.12577C>A (p.Leu4193Ile) c.5870-3572C>A (n.5870-3572C>A) | |
2 | g.21002846T>A | CA425342682 | APOB | c.12576A>T (p.Ser4192=) c.5870-3573A>T (n.5870-3573A>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21002846T>C | CA425342683 | APOB | c.12576A>G (p.Ser4192=) c.5870-3573A>G (n.5870-3573A>G) | |
2 | g.21002846T>G | CA425342684 | APOB | c.12576A>C (p.Ser4192=) c.5870-3573A>C (n.5870-3573A>C) | |
2 | g.21002846T= | CA2493473168 | APOB | c.12576A= (p.Ser4192=) c.5870-3573A= (n.5870-3573A=) | |
2 | g.21002847G>A | CA345970938 | APOB | c.12575C>T (p.Ser4192Leu) c.5870-3574C>T (n.5870-3574C>T) | |
2 | g.21002847G>C | CA345970936 | APOB | c.12575C>G (p.Ser4192Ter) c.5870-3574C>G (n.5870-3574C>G) | |
2 | g.21002847G>T | CA345970937 | APOB | c.12575C>A (p.Ser4192Ter) c.5870-3574C>A (n.5870-3574C>A) | |
2 | g.21002848A>C | CA345970939 | APOB | c.12574T>G (p.Ser4192Ala) c.5870-3575T>G (n.5870-3575T>G) | |
2 | g.21002848A>G | CA345970940 | APOB | c.12574T>C (p.Ser4192Pro) c.5870-3575T>C (n.5870-3575T>C) | |
2 | g.21002848A>T | CA345970941 | APOB | c.12574T>A (p.Ser4192Thr) c.5870-3575T>A (n.5870-3575T>A) | |
2 | g.21002849G>A | CA425342685 | APOB | c.12573C>T (p.Asp4191=) c.5870-3576C>T (n.5870-3576C>T) | |
2 | g.21002849G>C | CA345970942 | APOB | c.12573C>G (p.Asp4191Glu) c.5870-3576C>G (n.5870-3576C>G) | |
2 | g.21002849G>T | CA345970943 | APOB | c.12573C>A (p.Asp4191Glu) c.5870-3576C>A (n.5870-3576C>A) | gnomAD v4 |
2 | g.21002850T>A | CA345970944 | APOB | c.12572A>T (p.Asp4191Val) c.5870-3577A>T (n.5870-3577A>T) | |
2 | g.21002850T>C | CA345970946 | APOB | c.12572A>G (p.Asp4191Gly) c.5870-3577A>G (n.5870-3577A>G) | |
2 | g.21002850T>G | CA345970945 | APOB | c.12572A>C (p.Asp4191Ala) c.5870-3577A>C (n.5870-3577A>C) | |
2 | g.21002851C>A | CA345970947 | APOB | c.12571G>T (p.Asp4191Tyr) c.5870-3578G>T (n.5870-3578G>T) | |
2 | g.21002851C>G | CA345970948 | APOB | c.12571G>C (p.Asp4191His) c.5870-3578G>C (n.5870-3578G>C) | |
2 | g.21002851C>T | CA345970949 | APOB | c.12571G>A (p.Asp4191Asn) c.5870-3578G>A (n.5870-3578G>A) | |
2 | g.21002852A= | CA2493473169 | APOB | c.12570T= (p.Ile4190=) c.5870-3579T= (n.5870-3579T=) | |
2 | g.21002852A>C | CA345970950 | APOB | c.12570T>G (p.Ile4190Met) c.5870-3579T>G (n.5870-3579T>G) | |
2 | g.21002852A>G | CA425342686 | APOB | c.12570T>C (p.Ile4190=) c.5870-3579T>C (n.5870-3579T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.21002852A>T | CA425342687 | APOB | c.12570T>A (p.Ile4190=) c.5870-3579T>A (n.5870-3579T>A) | gnomAD v4 |
2 | g.21002853A>C | CA345970951 | APOB | c.12569T>G (p.Ile4190Ser) c.5870-3580T>G (n.5870-3580T>G) | |
2 | g.21002853A>G | CA345970952 | APOB | c.12569T>C (p.Ile4190Thr) c.5870-3580T>C (n.5870-3580T>C) | |
2 | g.21002853A>T | CA345970953 | APOB | c.12569T>A (p.Ile4190Asn) c.5870-3580T>A (n.5870-3580T>A) | |
2 | g.21002854T>A | CA345970954 | APOB | c.12568A>T (p.Ile4190Phe) c.5870-3581A>T (n.5870-3581A>T) | |
2 | g.21002854T>C | CA345970955 | APOB | c.12568A>G (p.Ile4190Val) c.5870-3581A>G (n.5870-3581A>G) | |
2 | g.21002854T>G | CA345970956 | APOB | c.12568A>C (p.Ile4190Leu) c.5870-3581A>C (n.5870-3581A>C) | |
2 | g.21002855del | CA2658054555 | APOB | c.12567del (p.Ile4190LeufsTer8) c.5870-3582del (n.5870-3582del) | gnomAD v4 |
2 | g.21002855C>A | CA425342688 | APOB | c.12567G>T (p.Leu4189=) c.5870-3582G>T (n.5870-3582G>T) | dbSNP |
2 | g.21002855C= | CA2493473170 | APOB | c.12567G= (p.Leu4189=) c.5870-3582G= (n.5870-3582G=) | |
2 | g.21002855C>G | CA425342689 | APOB | c.12567G>C (p.Leu4189=) c.5870-3582G>C (n.5870-3582G>C) | |
2 | g.21002855C>T | CA050578 | APOB | c.12567G>A (p.Leu4189=) c.5870-3582G>A (n.5870-3582G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002856A>C | CA345970957 | APOB | c.12566T>G (p.Leu4189Arg) c.5870-3583T>G (n.5870-3583T>G) | |
2 | g.21002856A>G | CA345970959 | APOB | c.12566T>C (p.Leu4189Pro) c.5870-3583T>C (n.5870-3583T>C) | |
2 | g.21002856A>T | CA345970958 | APOB | c.12566T>A (p.Leu4189Gln) c.5870-3583T>A (n.5870-3583T>A) | |
2 | g.21002857G>A | CA425342690 | APOB | c.12565C>T (p.Leu4189=) c.5870-3584C>T (n.5870-3584C>T) | |
2 | g.21002857G>C | CA345970960 | APOB | c.12565C>G (p.Leu4189Val) c.5870-3584C>G (n.5870-3584C>G) | gnomAD v4 |
2 | g.21002857G>T | CA345970961 | APOB | c.12565C>A (p.Leu4189Met) c.5870-3584C>A (n.5870-3584C>A) | |
2 | g.21002857_21002862del | CA2658054556 | APOB | c.12560_12565del (p.Lys4187_Leu4189delinsMet) c.5870-3589_5870-3584del (n.5870-3589_5870-3584del) | gnomAD v4 |
2 | g.21002858A>C | CA345970962 | APOB | c.12564T>G (p.His4188Gln) c.5870-3585T>G (n.5870-3585T>G) | |
2 | g.21002858A>G | CA425342691 | APOB | c.12564T>C (p.His4188=) c.5870-3585T>C (n.5870-3585T>C) | gnomAD v4 |
2 | g.21002858A>T | CA345970963 | APOB | c.12564T>A (p.His4188Gln) c.5870-3585T>A (n.5870-3585T>A) | |
2 | g.21002859T>A | CA345970964 | APOB | c.12563A>T (p.His4188Leu) c.5870-3586A>T (n.5870-3586A>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21002859T>C | CA345970965 | APOB | c.12563A>G (p.His4188Arg) c.5870-3586A>G (n.5870-3586A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002859T>G | CA345970966 | APOB | c.12563A>C (p.His4188Pro) c.5870-3586A>C (n.5870-3586A>C) | |
2 | g.21002859T= | CA2493473171 | APOB | c.12563A= (p.His4188=) c.5870-3586A= (n.5870-3586A=) | |
2 | g.21002860G>A | CA345970967 | APOB | c.12562C>T (p.His4188Tyr) c.5870-3587C>T (n.5870-3587C>T) | |
2 | g.21002860G>C | CA345970968 | APOB | c.12562C>G (p.His4188Asp) c.5870-3587C>G (n.5870-3587C>G) | |
2 | g.21002860G>T | CA345970969 | APOB | c.12562C>A (p.His4188Asn) c.5870-3587C>A (n.5870-3587C>A) | |
2 | g.21002861C>A | CA345970970 | APOB | c.12561G>T (p.Lys4187Asn) c.5870-3588G>T (n.5870-3588G>T) | |
2 | g.21002861C= | CA2493473172 | APOB | c.12561G= (p.Lys4187=) c.5870-3588G= (n.5870-3588G=) | |
2 | g.21002861C>G | CA345970971 | APOB | c.12561G>C (p.Lys4187Asn) c.5870-3588G>C (n.5870-3588G>C) | |
2 | g.21002861C>T | CA050565 | APOB | c.12561G>A (p.Lys4187=) c.5870-3588G>A (n.5870-3588G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21002862T>A | CA345970972 | APOB | c.12560A>T (p.Lys4187Met) c.5870-3589A>T (n.5870-3589A>T) | |
2 | g.21002862T>C | CA345970974 | APOB | c.12560A>G (p.Lys4187Arg) c.5870-3589A>G (n.5870-3589A>G) | |
2 | g.21002862T>G | CA345970973 | APOB | c.12560A>C (p.Lys4187Thr) c.5870-3589A>C (n.5870-3589A>C) | |
2 | g.21002863T>A | CA345970975 | APOB | c.12559A>T (p.Lys4187Ter) c.5870-3590A>T (n.5870-3590A>T) | |
2 | g.21002863T>C | CA345970976 | APOB | c.12559A>G (p.Lys4187Glu) c.5870-3590A>G (n.5870-3590A>G) | gnomAD v4 |
2 | g.21002863T>G | CA345970977 | APOB | c.12559A>C (p.Lys4187Gln) c.5870-3590A>C (n.5870-3590A>C) | |
2 | g.21002864G>A | CA425342692 | APOB | c.12558C>T (p.Val4186=) c.5870-3591C>T (n.5870-3591C>T) | |
2 | g.21002864G>C | CA425342693 | APOB | c.12558C>G (p.Val4186=) c.5870-3591C>G (n.5870-3591C>G) | |
2 | g.21002864G= | CA2493473173 | APOB | c.12558C= (p.Val4186=) c.5870-3591C= (n.5870-3591C=) | |
2 | g.21002864G>T | CA425342694 | APOB | c.12558C>A (p.Val4186=) c.5870-3591C>A (n.5870-3591C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21002865A>C | CA345970978 | APOB | c.12557T>G (p.Val4186Gly) c.5870-3592T>G (n.5870-3592T>G) | |
2 | g.21002865A>G | CA345970979 | APOB | c.12557T>C (p.Val4186Ala) c.5870-3592T>C (n.5870-3592T>C) | |
2 | g.21002865A>T | CA345970980 | APOB | c.12557T>A (p.Val4186Asp) c.5870-3592T>A (n.5870-3592T>A) | |
2 | g.21002866C>A | CA345970981 | APOB | c.12556G>T (p.Val4186Phe) c.5870-3593G>T (n.5870-3593G>T) | |
2 | g.21002866C>G | CA345970982 | APOB | c.12556G>C (p.Val4186Leu) c.5870-3593G>C (n.5870-3593G>C) | |
2 | g.21002866C>T | CA345970983 | APOB | c.12556G>A (p.Val4186Ile) c.5870-3593G>A (n.5870-3593G>A) | |
2 | g.21002867T>A | CA345970984 | APOB | c.12555A>T (p.Lys4185Asn) c.5870-3594A>T (n.5870-3594A>T) | |
2 | g.21002867T>C | CA425342695 | APOB | c.12555A>G (p.Lys4185=) c.5870-3594A>G (n.5870-3594A>G) | gnomAD v4 |
2 | g.21002867T>G | CA345970985 | APOB | c.12555A>C (p.Lys4185Asn) c.5870-3594A>C (n.5870-3594A>C) | COSMIC |
2 | g.21002868_21002869del | CA2749099312 | APOB | c.12554_12555del (p.Lys4185SerfsTer6) c.5870-3595_5870-3594del (n.5870-3595_5870-3594del) | |
2 | g.21002867_21002868insCACTCA | CA2830535045 | APOB | c.12554_12555insTGAGTG (p.Lys4185AsnfsTer3) c.5870-3595_5870-3594insTGAGTG (n.5870-3595_5870-3594insTGAGTG) | |
2 | g.21002868T>A | CA345970988 | APOB | c.12554A>T (p.Lys4185Ile) c.5870-3595A>T (n.5870-3595A>T) | |
2 | g.21002868T>C | CA345970987 | APOB | c.12554A>G (p.Lys4185Arg) c.5870-3595A>G (n.5870-3595A>G) | |
2 | g.21002868T>G | CA345970986 | APOB | c.12554A>C (p.Lys4185Thr) c.5870-3595A>C (n.5870-3595A>C) | |
2 | g.21002869T>A | CA345970989 | APOB | c.12553A>T (p.Lys4185Ter) c.5870-3596A>T (n.5870-3596A>T) | |
2 | g.21002869T>C | CA050546 | APOB | c.12553A>G (p.Lys4185Glu) c.5870-3596A>G (n.5870-3596A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21002869T>G | CA345970990 | APOB | c.12553A>C (p.Lys4185Gln) c.5870-3596A>C (n.5870-3596A>C) | |
2 | g.21002869T= | CA2493473174 | APOB | c.12553A= (p.Lys4185=) c.5870-3596A= (n.5870-3596A=) | |
2 | g.21002870C>A | CA345970991 | APOB | c.12552G>T (p.Met4184Ile) c.5870-3597G>T (n.5870-3597G>T) | gnomAD v4 |
2 | g.21002870C>G | CA345970992 | APOB | c.12552G>C (p.Met4184Ile) c.5870-3597G>C (n.5870-3597G>C) | |
2 | g.21002870C>T | CA345970993 | APOB | c.12552G>A (p.Met4184Ile) c.5870-3597G>A (n.5870-3597G>A) | |
2 | g.21002871A= | CA2493473175 | APOB | c.12551T= (p.Met4184=) c.5870-3598T= (n.5870-3598T=) | |
2 | g.21002871A>C | CA345970994 | APOB | c.12551T>G (p.Met4184Arg) c.5870-3598T>G (n.5870-3598T>G) | dbSNP gnomAD v2 |
2 | g.21002871A>G | CA43488855 | APOB | c.12551T>C (p.Met4184Thr) c.5870-3598T>C (n.5870-3598T>C) | dbSNP gnomAD v4 |
2 | g.21002871A>T | CA345970995 | APOB | c.12551T>A (p.Met4184Lys) c.5870-3598T>A (n.5870-3598T>A) | |
2 | g.21002872T>A | CA345970998 | APOB | c.12550A>T (p.Met4184Leu) c.5870-3599A>T (n.5870-3599A>T) | |
2 | g.21002872T>C | CA345970996 | APOB | c.12550A>G (p.Met4184Val) c.5870-3599A>G (n.5870-3599A>G) | |
2 | g.21002872T>G | CA345970997 | APOB | c.12550A>C (p.Met4184Leu) c.5870-3599A>C (n.5870-3599A>C) | |
2 | g.21002873A>C | CA345970999 | APOB | c.12549T>G (p.His4183Gln) c.5870-3600T>G (n.5870-3600T>G) | |
2 | g.21002873A>G | CA425342696 | APOB | c.12549T>C (p.His4183=) c.5870-3600T>C (n.5870-3600T>C) | ClinVar |
2 | g.21002873A>T | CA345971000 | APOB | c.12549T>A (p.His4183Gln) c.5870-3600T>A (n.5870-3600T>A) | |
2 | g.21002874T>A | CA345971001 | APOB | c.12548A>T (p.His4183Leu) c.5870-3601A>T (n.5870-3601A>T) | |
2 | g.21002874T>C | CA050535 | APOB | c.12548A>G (p.His4183Arg) c.5870-3601A>G (n.5870-3601A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21002874T>G | CA345971002 | APOB | c.12548A>C (p.His4183Pro) c.5870-3601A>C (n.5870-3601A>C) | |
2 | g.21002874T= | CA2493473176 | APOB | c.12548A= (p.His4183=) c.5870-3601A= (n.5870-3601A=) | |
2 | g.21002875G>A | CA345971005 | APOB | c.12547C>T (p.His4183Tyr) c.5870-3602C>T (n.5870-3602C>T) | |
2 | g.21002875G>C | CA345971003 | APOB | c.12547C>G (p.His4183Asp) c.5870-3602C>G (n.5870-3602C>G) | |
2 | g.21002875G>T | CA345971004 | APOB | c.12547C>A (p.His4183Asn) c.5870-3602C>A (n.5870-3602C>A) | |
2 | g.21002876G>A | CA425342697 | APOB | c.12546C>T (p.Phe4182=) c.5870-3603C>T (n.5870-3603C>T) | |
2 | g.21002876G>C | CA345971006 | APOB | c.12546C>G (p.Phe4182Leu) c.5870-3603C>G (n.5870-3603C>G) | gnomAD v4 |
2 | g.21002876G>T | CA345971007 | APOB | c.12546C>A (p.Phe4182Leu) c.5870-3603C>A (n.5870-3603C>A) | |
2 | g.21002877A>C | CA345971010 | APOB | c.12545T>G (p.Phe4182Cys) c.5870-3604T>G (n.5870-3604T>G) | |
2 | g.21002877A>G | CA345971011 | APOB | c.12545T>C (p.Phe4182Ser) c.5870-3604T>C (n.5870-3604T>C) | gnomAD v4 |
2 | g.21002877A>T | CA345971012 | APOB | c.12545T>A (p.Phe4182Tyr) c.5870-3604T>A (n.5870-3604T>A) | |
2 | g.21002878A>C | CA345971013 | APOB | c.12544T>G (p.Phe4182Val) c.5870-3605T>G (n.5870-3605T>G) | |
2 | g.21002878A>G | CA345971014 | APOB | c.12544T>C (p.Phe4182Leu) c.5870-3605T>C (n.5870-3605T>C) | gnomAD v4 |
2 | g.21002878A>T | CA345971015 | APOB | c.12544T>A (p.Phe4182Ile) c.5870-3605T>A (n.5870-3605T>A) | |
2 | g.21002879T>A | CA345971016 | APOB | c.12543A>T (p.Glu4181Asp) c.5870-3606A>T (n.5870-3606A>T) | |
2 | g.21002879T>C | CA425342698 | APOB | c.12543A>G (p.Glu4181=) c.5870-3606A>G (n.5870-3606A>G) | |
2 | g.21002879T>G | CA050526 | APOB | c.12543A>C (p.Glu4181Asp) c.5870-3606A>C (n.5870-3606A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002879T= | CA2493473177 | APOB | c.12543A= (p.Glu4181=) c.5870-3606A= (n.5870-3606A=) | |
2 | g.21002880T>A | CA345971017 | APOB | c.12542A>T (p.Glu4181Val) c.5870-3607A>T (n.5870-3607A>T) | |
2 | g.21002880T>C | CA345971018 | APOB | c.12542A>G (p.Glu4181Gly) c.5870-3607A>G (n.5870-3607A>G) | |
2 | g.21002880T>G | CA345971019 | APOB | c.12542A>C (p.Glu4181Ala) c.5870-3607A>C (n.5870-3607A>C) | gnomAD v4 |
2 | g.21002881C>A | CA050516 | APOB | c.12541G>T (p.Glu4181Ter) c.5870-3608G>T (n.5870-3608G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21002881C= | CA2493473178 | APOB | c.12541G= (p.Glu4181=) c.5870-3608G= (n.5870-3608G=) | |
2 | g.21002881C>G | CA345971020 | APOB | c.12541G>C (p.Glu4181Gln) c.5870-3608G>C (n.5870-3608G>C) | |
2 | g.21002881C>T | CA022778 | APOB | c.12541G>A (p.Glu4181Lys) c.5870-3608G>A (n.5870-3608G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002882T>A | CA345971021 | APOB | c.12540A>T (p.Gln4180His) c.5870-3609A>T (n.5870-3609A>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21002882T>C | CA425342699 | APOB | c.12540A>G (p.Gln4180=) c.5870-3609A>G (n.5870-3609A>G) | dbSNP |
2 | g.21002882T>G | CA345971022 | APOB | c.12540A>C (p.Gln4180His) c.5870-3609A>C (n.5870-3609A>C) | |
2 | g.21002882T= | CA2493473179 | APOB | c.12540A= (p.Gln4180=) c.5870-3609A= (n.5870-3609A=) | |
2 | g.21002883T>A | CA345971023 | APOB | c.12539A>T (p.Gln4180Leu) c.5870-3610A>T (n.5870-3610A>T) | |
2 | g.21002883T>C | CA345971024 | APOB | c.12539A>G (p.Gln4180Arg) c.5870-3610A>G (n.5870-3610A>G) | |
2 | g.21002883T>G | CA345971025 | APOB | c.12539A>C (p.Gln4180Pro) c.5870-3610A>C (n.5870-3610A>C) | |
2 | g.21002884G>A | CA43488872 | APOB | c.12538C>T (p.Gln4180Ter) c.5870-3611C>T (n.5870-3611C>T) | dbSNP |
2 | g.21002884G>C | CA345971026 | APOB | c.12538C>G (p.Gln4180Glu) c.5870-3611C>G (n.5870-3611C>G) | |
2 | g.21002884G= | CA2493473180 | APOB | c.12538C= (p.Gln4180=) c.5870-3611C= (n.5870-3611C=) | |
2 | g.21002884G>T | CA345971027 | APOB | c.12538C>A (p.Gln4180Lys) c.5870-3611C>A (n.5870-3611C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002885A>C | CA425342171 | APOB | c.12537T>G (p.Thr4179=) c.5870-3612T>G (n.5870-3612T>G) | |
2 | g.21002885A>G | CA425342170 | APOB | c.12537T>C (p.Thr4179=) c.5870-3612T>C (n.5870-3612T>C) | |
2 | g.21002885A>T | CA425342168 | APOB | c.12537T>A (p.Thr4179=) c.5870-3612T>A (n.5870-3612T>A) | |
2 | g.21002886G>A | CA050490 | APOB | c.12536C>T (p.Thr4179Ile) c.5870-3613C>T (n.5870-3613C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002886G>C | CA345971028 | APOB | c.12536C>G (p.Thr4179Ser) c.5870-3613C>G (n.5870-3613C>G) | |
2 | g.21002886G= | CA2493473181 | APOB | c.12536C= (p.Thr4179=) c.5870-3613C= (n.5870-3613C=) | |
2 | g.21002886G>T | CA345971029 | APOB | c.12536C>A (p.Thr4179Asn) c.5870-3613C>A (n.5870-3613C>A) | |
2 | g.21002887T>A | CA345971032 | APOB | c.12535A>T (p.Thr4179Ser) c.5870-3614A>T (n.5870-3614A>T) | gnomAD v4 |
2 | g.21002887T>C | CA345971031 | APOB | c.12535A>G (p.Thr4179Ala) c.5870-3614A>G (n.5870-3614A>G) | |
2 | g.21002887T>G | CA345971030 | APOB | c.12535A>C (p.Thr4179Pro) c.5870-3614A>C (n.5870-3614A>C) | |
2 | g.21002888A= | CA2493473182 | APOB | c.12534T= (p.Val4178=) c.5870-3615T= (n.5870-3615T=) | |
2 | g.21002888A>C | CA425342173 | APOB | c.12534T>G (p.Val4178=) c.5870-3615T>G (n.5870-3615T>G) | |
2 | g.21002888A>G | CA050477 | APOB | c.12534T>C (p.Val4178=) c.5870-3615T>C (n.5870-3615T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002888A>T | CA425342174 | APOB | c.12534T>A (p.Val4178=) c.5870-3615T>A (n.5870-3615T>A) | |
2 | g.21002889A= | CA2493473183 | APOB | c.12533T= (p.Val4178=) c.5870-3616T= (n.5870-3616T=) | |
2 | g.21002889A>C | CA345971033 | APOB | c.12533T>G (p.Val4178Gly) c.5870-3616T>G (n.5870-3616T>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.21002889A>G | CA345971034 | APOB | c.12533T>C (p.Val4178Ala) c.5870-3616T>C (n.5870-3616T>C) | |
2 | g.21002889A>T | CA345971035 | APOB | c.12533T>A (p.Val4178Asp) c.5870-3616T>A (n.5870-3616T>A) | |
2 | g.21002890C>A | CA345971036 | APOB | c.12532G>T (p.Val4178Phe) c.5870-3617G>T (n.5870-3617G>T) | |
2 | g.21002890C= | CA2493473184 | APOB | c.12532G= (p.Val4178=) c.5870-3617G= (n.5870-3617G=) | |
2 | g.21002890C>G | CA345971037 | APOB | c.12532G>C (p.Val4178Leu) c.5870-3617G>C (n.5870-3617G>C) | |
2 | g.21002890C>T | CA050468 | APOB | c.12532G>A (p.Val4178Ile) c.5870-3617G>A (n.5870-3617G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002891T>A | CA425342176 | APOB | c.12531A>T (p.Arg4177=) c.5870-3618A>T (n.5870-3618A>T) | |
2 | g.21002891T>C | CA425342177 | APOB | c.12531A>G (p.Arg4177=) c.5870-3618A>G (n.5870-3618A>G) | COSMIC |
2 | g.21002891T>G | CA425342179 | APOB | c.12531A>C (p.Arg4177=) c.5870-3618A>C (n.5870-3618A>C) | dbSNP |
2 | g.21002891T= | CA2493473185 | APOB | c.12531A= (p.Arg4177=) c.5870-3618A= (n.5870-3618A=) | |
2 | g.21002892C>A | CA345971038 | APOB | c.12530G>T (p.Arg4177Leu) c.5870-3619G>T (n.5870-3619G>T) | |
2 | g.21002892C= | CA2493473186 | APOB | c.12530G= (p.Arg4177=) c.5870-3619G= (n.5870-3619G=) | |
2 | g.21002892C>G | CA345971039 | APOB | c.12530G>C (p.Arg4177Pro) c.5870-3619G>C (n.5870-3619G>C) | |
2 | g.21002892C>T | CA345971040 | APOB | c.12530G>A (p.Arg4177Gln) c.5870-3619G>A (n.5870-3619G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.21002893G>A | CA050454 | APOB | c.12529C>T (p.Arg4177Ter) c.5870-3620C>T (n.5870-3620C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002893G>C | CA345971041 | APOB | c.12529C>G (p.Arg4177Gly) c.5870-3620C>G (n.5870-3620C>G) | |
2 | g.21002893G= | CA2493473187 | APOB | c.12529C= (p.Arg4177=) c.5870-3620C= (n.5870-3620C=) | |
2 | g.21002893G>T | CA425342180 | APOB | c.12529C>A (p.Arg4177=) c.5870-3620C>A (n.5870-3620C>A) | ClinVar dbSNP gnomAD v2 |
2 | g.21002894T>A | CA425342181 | APOB | c.12528A>T (p.Val4176=) c.5870-3621A>T (n.5870-3621A>T) | |
2 | g.21002894T>C | CA425342182 | APOB | c.12528A>G (p.Val4176=) c.5870-3621A>G (n.5870-3621A>G) | COSMIC |
2 | g.21002894T>G | CA425342183 | APOB | c.12528A>C (p.Val4176=) c.5870-3621A>C (n.5870-3621A>C) | |
2 | g.21002895A>C | CA345971044 | APOB | c.12527T>G (p.Val4176Gly) c.5870-3622T>G (n.5870-3622T>G) | |
2 | g.21002895A>G | CA345971043 | APOB | c.12527T>C (p.Val4176Ala) c.5870-3622T>C (n.5870-3622T>C) | |
2 | g.21002895A>T | CA345971042 | APOB | c.12527T>A (p.Val4176Glu) c.5870-3622T>A (n.5870-3622T>A) | |
2 | g.21002896C>A | CA345971045 | APOB | c.12526G>T (p.Val4176Leu) c.5870-3623G>T (n.5870-3623G>T) | COSMIC |
2 | g.21002896C>G | CA345971047 | APOB | c.12526G>C (p.Val4176Leu) c.5870-3623G>C (n.5870-3623G>C) | |
2 | g.21002896C>T | CA345971046 | APOB | c.12526G>A (p.Val4176Ile) c.5870-3623G>A (n.5870-3623G>A) | gnomAD v4 COSMIC |
2 | g.21002897C>A | CA345971048 | APOB | c.12525G>T (p.Leu4175Phe) c.5870-3624G>T (n.5870-3624G>T) | |
2 | g.21002897C>G | CA345971049 | APOB | c.12525G>C (p.Leu4175Phe) c.5870-3624G>C (n.5870-3624G>C) | |
2 | g.21002897C>T | CA425342187 | APOB | c.12525G>A (p.Leu4175=) c.5870-3624G>A (n.5870-3624G>A) | gnomAD v4 |
2 | g.21002898A>C | CA345971050 | APOB | c.12524T>G (p.Leu4175Trp) c.5870-3625T>G (n.5870-3625T>G) | |
2 | g.21002898A>G | CA345971051 | APOB | c.12524T>C (p.Leu4175Ser) c.5870-3625T>C (n.5870-3625T>C) | |
2 | g.21002898A>T | CA345971052 | APOB | c.12524T>A (p.Leu4175Ter) c.5870-3625T>A (n.5870-3625T>A) | |
2 | g.21002899A>C | CA345971053 | APOB | c.12523T>G (p.Leu4175Val) c.5870-3626T>G (n.5870-3626T>G) | |
2 | g.21002899A>G | CA425342189 | APOB | c.12523T>C (p.Leu4175=) c.5870-3626T>C (n.5870-3626T>C) | |
2 | g.21002899A>T | CA345971054 | APOB | c.12523T>A (p.Leu4175Met) c.5870-3626T>A (n.5870-3626T>A) | |
2 | g.21002900G>A | CA425342190 | APOB | c.12522C>T (p.Gly4174=) c.5870-3627C>T (n.5870-3627C>T) | |
2 | g.21002900G>C | CA425342191 | APOB | c.12522C>G (p.Gly4174=) c.5870-3627C>G (n.5870-3627C>G) | |
2 | g.21002900G>T | CA425342193 | APOB | c.12522C>A (p.Gly4174=) c.5870-3627C>A (n.5870-3627C>A) | |
2 | g.21002901C>A | CA345971055 | APOB | c.12521G>T (p.Gly4174Val) c.5870-3628G>T (n.5870-3628G>T) | |
2 | g.21002901C>G | CA345971056 | APOB | c.12521G>C (p.Gly4174Ala) c.5870-3628G>C (n.5870-3628G>C) | |
2 | g.21002901C>T | CA345971057 | APOB | c.12521G>A (p.Gly4174Asp) c.5870-3628G>A (n.5870-3628G>A) | |
2 | g.21002902C>A | CA345971058 | APOB | c.12520G>T (p.Gly4174Cys) c.5870-3629G>T (n.5870-3629G>T) | |
2 | g.21002902C>G | CA345971059 | APOB | c.12520G>C (p.Gly4174Arg) c.5870-3629G>C (n.5870-3629G>C) | |
2 | g.21002902C>T | CA345971060 | APOB | c.12520G>A (p.Gly4174Ser) c.5870-3629G>A (n.5870-3629G>A) | COSMIC |
2 | g.21002903A>C | CA345971061 | APOB | c.12519T>G (p.Asp4173Glu) c.5870-3630T>G (n.5870-3630T>G) | |
2 | g.21002903A>G | CA425342200 | APOB | c.12519T>C (p.Asp4173=) c.5870-3630T>C (n.5870-3630T>C) | dbSNP |
2 | g.21002903A>T | CA345971062 | APOB | c.12519T>A (p.Asp4173Glu) c.5870-3630T>A (n.5870-3630T>A) | |
2 | g.21002904T>A | CA345971063 | APOB | c.12518A>T (p.Asp4173Val) c.5870-3631A>T (n.5870-3631A>T) | |
2 | g.21002904T>C | CA345971064 | APOB | c.12518A>G (p.Asp4173Gly) c.5870-3631A>G (n.5870-3631A>G) | |
2 | g.21002904T>G | CA345971065 | APOB | c.12518A>C (p.Asp4173Ala) c.5870-3631A>C (n.5870-3631A>C) | |
2 | g.21002904_21002911del | CA2830535047 | APOB | c.12511_12518del (p.Val4171TrpfsTer18) c.5870-3638_5870-3631del (n.5870-3638_5870-3631del) | |
2 | g.21002905C>A | CA345971066 | APOB | c.12517G>T (p.Asp4173Tyr) c.5870-3632G>T (n.5870-3632G>T) | |
2 | g.21002905C>G | CA345971067 | APOB | c.12517G>C (p.Asp4173His) c.5870-3632G>C (n.5870-3632G>C) | |
2 | g.21002905C>T | CA345971068 | APOB | c.12517G>A (p.Asp4173Asn) c.5870-3632G>A (n.5870-3632G>A) | |
2 | g.21002906A>C | CA345971069 | APOB | c.12516T>G (p.Phe4172Leu) c.5870-3633T>G (n.5870-3633T>G) | |
2 | g.21002906A>G | CA425342204 | APOB | c.12516T>C (p.Phe4172=) c.5870-3633T>C (n.5870-3633T>C) | |
2 | g.21002906A>T | CA345971070 | APOB | c.12516T>A (p.Phe4172Leu) c.5870-3633T>A (n.5870-3633T>A) | |
2 | g.21002907A>C | CA345971071 | APOB | c.12515T>G (p.Phe4172Cys) c.5870-3634T>G (n.5870-3634T>G) | |
2 | g.21002907A>G | CA345971072 | APOB | c.12515T>C (p.Phe4172Ser) c.5870-3634T>C (n.5870-3634T>C) | ClinVar |
2 | g.21002907A>T | CA345971073 | APOB | c.12515T>A (p.Phe4172Tyr) c.5870-3634T>A (n.5870-3634T>A) | |
2 | g.21002908A>C | CA345971076 | APOB | c.12514T>G (p.Phe4172Val) c.5870-3635T>G (n.5870-3635T>G) | |
2 | g.21002908A>G | CA345971075 | APOB | c.12514T>C (p.Phe4172Leu) c.5870-3635T>C (n.5870-3635T>C) | |
2 | g.21002908A>T | CA345971074 | APOB | c.12514T>A (p.Phe4172Ile) c.5870-3635T>A (n.5870-3635T>A) | |
2 | g.21002909C>A | CA425342210 | APOB | c.12513G>T (p.Val4171=) c.5870-3636G>T (n.5870-3636G>T) | gnomAD v4 |
2 | g.21002909C>G | CA425342211 | APOB | c.12513G>C (p.Val4171=) c.5870-3636G>C (n.5870-3636G>C) | |
2 | g.21002909C>T | CA425342212 | APOB | c.12513G>A (p.Val4171=) c.5870-3636G>A (n.5870-3636G>A) | gnomAD v4 |
2 | g.21002910A= | CA2493473188 | APOB | c.12512T= (p.Val4171=) c.5870-3637T= (n.5870-3637T=) | |
2 | g.21002910A>C | CA345971077 | APOB | c.12512T>G (p.Val4171Gly) c.5870-3637T>G (n.5870-3637T>G) | |
2 | g.21002910A>G | CA345971078 | APOB | c.12512T>C (p.Val4171Ala) c.5870-3637T>C (n.5870-3637T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21002910A>T | CA345971079 | APOB | c.12512T>A (p.Val4171Glu) c.5870-3637T>A (n.5870-3637T>A) | |
2 | g.21002911C>A | CA345971080 | APOB | c.12511G>T (p.Val4171Leu) c.5870-3638G>T (n.5870-3638G>T) | gnomAD v4 |
2 | g.21002911C= | CA2493473189 | APOB | c.12511G= (p.Val4171=) c.5870-3638G= (n.5870-3638G=) | |
2 | g.21002911C>G | CA345971081 | APOB | c.12511G>C (p.Val4171Leu) c.5870-3638G>C (n.5870-3638G>C) | |
2 | g.21002911C>T | CA050433 | APOB | c.12511G>A (p.Val4171Met) c.5870-3638G>A (n.5870-3638G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002912G>A | CA050415 | APOB | c.12510C>T (p.Asn4170=) c.5870-3639C>T (n.5870-3639C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.21002912G>C | CA43488915 | APOB | c.12510C>G (p.Asn4170Lys) c.5870-3639C>G (n.5870-3639C>G) | dbSNP |
2 | g.21002912G= | CA2493473190 | APOB | c.12510C= (p.Asn4170=) c.5870-3639C= (n.5870-3639C=) | |
2 | g.21002912G>T | CA345971082 | APOB | c.12510C>A (p.Asn4170Lys) c.5870-3639C>A (n.5870-3639C>A) | |
2 | g.21002913T>A | CA345971083 | APOB | c.12509A>T (p.Asn4170Ile) c.5870-3640A>T (n.5870-3640A>T) | |
2 | g.21002913T>C | CA345971084 | APOB | c.12509A>G (p.Asn4170Ser) c.5870-3640A>G (n.5870-3640A>G) | |
2 | g.21002913T>G | CA345971085 | APOB | c.12509A>C (p.Asn4170Thr) c.5870-3640A>C (n.5870-3640A>C) | |
2 | g.21002914T>A | CA345971088 | APOB | c.12508A>T (p.Asn4170Tyr) c.5870-3641A>T (n.5870-3641A>T) | |
2 | g.21002914T>C | CA345971087 | APOB | c.12508A>G (p.Asn4170Asp) c.5870-3641A>G (n.5870-3641A>G) | |
2 | g.21002914T>G | CA345971086 | APOB | c.12508A>C (p.Asn4170His) c.5870-3641A>C (n.5870-3641A>C) | |
2 | g.21002915del | CA2830535048 | APOB | c.12507del (p.Asp4169GlufsTer16) c.5870-3642del (n.5870-3642del) | |
2 | g.21002915A= | CA2493473191 | APOB | c.12507T= (p.Asp4169=) c.5870-3642T= (n.5870-3642T=) | |
2 | g.21002915A>C | CA345971089 | APOB | c.12507T>G (p.Asp4169Glu) c.5870-3642T>G (n.5870-3642T>G) | |
2 | g.21002915A>G | CA425342219 | APOB | c.12507T>C (p.Asp4169=) c.5870-3642T>C (n.5870-3642T>C) | ClinVar dbSNP gnomAD v4 |
2 | g.21002915A>T | CA345971090 | APOB | c.12507T>A (p.Asp4169Glu) c.5870-3642T>A (n.5870-3642T>A) | |
2 | g.21002916T>A | CA345971091 | APOB | c.12506A>T (p.Asp4169Val) c.5870-3643A>T (n.5870-3643A>T) | gnomAD v4 COSMIC |
2 | g.21002916T>C | CA345971092 | APOB | c.12506A>G (p.Asp4169Gly) c.5870-3643A>G (n.5870-3643A>G) | |
2 | g.21002916T>G | CA345971093 | APOB | c.12506A>C (p.Asp4169Ala) c.5870-3643A>C (n.5870-3643A>C) | |
2 | g.21002917C>A | CA345971094 | APOB | c.12505G>T (p.Asp4169Tyr) c.5870-3644G>T (n.5870-3644G>T) | COSMIC |
2 | g.21002917C>G | CA345971095 | APOB | c.12505G>C (p.Asp4169His) c.5870-3644G>C (n.5870-3644G>C) | |
2 | g.21002917C>T | CA345971096 | APOB | c.12505G>A (p.Asp4169Asn) c.5870-3644G>A (n.5870-3644G>A) | |
2 | g.21002918C>A | CA345971097 | APOB | c.12504G>T (p.Lys4168Asn) c.5870-3645G>T (n.5870-3645G>T) | |
2 | g.21002918C= | CA2493473192 | APOB | c.12504G= (p.Lys4168=) c.5870-3645G= (n.5870-3645G=) | |
2 | g.21002918C>G | CA345971098 | APOB | c.12504G>C (p.Lys4168Asn) c.5870-3645G>C (n.5870-3645G>C) | dbSNP gnomAD v4 |
2 | g.21002918C>T | CA425342221 | APOB | c.12504G>A (p.Lys4168=) c.5870-3645G>A (n.5870-3645G>A) | gnomAD v4 COSMIC |
2 | g.21002919T>A | CA345971099 | APOB | c.12503A>T (p.Lys4168Met) c.5870-3646A>T (n.5870-3646A>T) | |
2 | g.21002919T>C | CA345971100 | APOB | c.12503A>G (p.Lys4168Arg) c.5870-3646A>G (n.5870-3646A>G) | |
2 | g.21002919T>G | CA345971101 | APOB | c.12503A>C (p.Lys4168Thr) c.5870-3646A>C (n.5870-3646A>C) | |
2 | g.21002919_21002921del | CA2830535049 | APOB | c.12501_12503del (p.Lys4168del) c.5870-3648_5870-3646del (n.5870-3648_5870-3646del) | |
2 | g.21002920T>A | CA345971103 | APOB | c.12502A>T (p.Lys4168Ter) c.5870-3647A>T (n.5870-3647A>T) | |
2 | g.21002920T>C | CA345971104 | APOB | c.12502A>G (p.Lys4168Glu) c.5870-3647A>G (n.5870-3647A>G) | dbSNP gnomAD v4 |
2 | g.21002920T>G | CA345971102 | APOB | c.12502A>C (p.Lys4168Gln) c.5870-3647A>C (n.5870-3647A>C) | |
2 | g.21002920T= | CA2493473193 | APOB | c.12502A= (p.Lys4168=) c.5870-3647A= (n.5870-3647A=) | |
2 | g.21002921G>A | CA425342223 | APOB | c.12501C>T (p.Leu4167=) c.5870-3648C>T (n.5870-3648C>T) | |
2 | g.21002921G>C | CA425342224 | APOB | c.12501C>G (p.Leu4167=) c.5870-3648C>G (n.5870-3648C>G) | ClinVar |
2 | g.21002921G>T | CA425342226 | APOB | c.12501C>A (p.Leu4167=) c.5870-3648C>A (n.5870-3648C>A) | |
2 | g.21002922A>C | CA345971105 | APOB | c.12500T>G (p.Leu4167Arg) c.5870-3649T>G (n.5870-3649T>G) | gnomAD v4 |
2 | g.21002922A>G | CA345971107 | APOB | c.12500T>C (p.Leu4167Pro) c.5870-3649T>C (n.5870-3649T>C) | gnomAD v4 |
2 | g.21002922A>T | CA345971106 | APOB | c.12500T>A (p.Leu4167His) c.5870-3649T>A (n.5870-3649T>A) | |
2 | g.21002923G>A | CA345971108 | APOB | c.12499C>T (p.Leu4167Phe) c.5870-3650C>T (n.5870-3650C>T) | |
2 | g.21002923G>C | CA345971110 | APOB | c.12499C>G (p.Leu4167Val) c.5870-3650C>G (n.5870-3650C>G) | |
2 | g.21002923G>T | CA345971109 | APOB | c.12499C>A (p.Leu4167Ile) c.5870-3650C>A (n.5870-3650C>A) | dbSNP |
2 | g.21002924T>A | CA425342229 | APOB | c.12498A>T (p.Gly4166=) c.5870-3651A>T (n.5870-3651A>T) | |
2 | g.21002924T>C | CA425342230 | APOB | c.12498A>G (p.Gly4166=) c.5870-3651A>G (n.5870-3651A>G) | |
2 | g.21002924T>G | CA425342231 | APOB | c.12498A>C (p.Gly4166=) c.5870-3651A>C (n.5870-3651A>C) | |
2 | g.21002925C>A | CA345971111 | APOB | c.12497G>T (p.Gly4166Val) c.5870-3652G>T (n.5870-3652G>T) | |
2 | g.21002925C>G | CA345971113 | APOB | c.12497G>C (p.Gly4166Ala) c.5870-3652G>C (n.5870-3652G>C) | |
2 | g.21002925C>T | CA345971112 | APOB | c.12497G>A (p.Gly4166Glu) c.5870-3652G>A (n.5870-3652G>A) | COSMIC |
2 | g.21002926C>A | CA345971114 | APOB | c.12496G>T (p.Gly4166Ter) c.5870-3653G>T (n.5870-3653G>T) | |
2 | g.21002926C= | CA2493473194 | APOB | c.12496G= (p.Gly4166=) c.5870-3653G= (n.5870-3653G=) | |
2 | g.21002926C>G | CA345971115 | APOB | c.12496G>C (p.Gly4166Arg) c.5870-3653G>C (n.5870-3653G>C) | |
2 | g.21002926C>T | CA345971116 | APOB | c.12496G>A (p.Gly4166Arg) c.5870-3653G>A (n.5870-3653G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21002927C>A | CA345971117 | APOB | c.12495G>T (p.Gln4165His) c.5870-3654G>T (n.5870-3654G>T) | COSMIC |
2 | g.21002927C>G | CA345971118 | APOB | c.12495G>C (p.Gln4165His) c.5870-3654G>C (n.5870-3654G>C) | |
2 | g.21002927C>T | CA425342236 | APOB | c.12495G>A (p.Gln4165=) c.5870-3654G>A (n.5870-3654G>A) | |
2 | g.21002928T>A | CA345971119 | APOB | c.12494A>T (p.Gln4165Leu) c.5870-3655A>T (n.5870-3655A>T) | |
2 | g.21002928T>C | CA345971120 | APOB | c.12494A>G (p.Gln4165Arg) c.5870-3655A>G (n.5870-3655A>G) | |
2 | g.21002928T>G | CA345971121 | APOB | c.12494A>C (p.Gln4165Pro) c.5870-3655A>C (n.5870-3655A>C) | |
2 | g.21002928_21002929insCAA | CA2830535059 | APOB | c.12493_12494insTTG (p.Gln4165delinsLeuGlu) c.5870-3656_5870-3655insTTG (n.5870-3656_5870-3655insTTG) | |
2 | g.21002929G>A | CA345971122 | APOB | c.12493C>T (p.Gln4165Ter) c.5870-3656C>T (n.5870-3656C>T) | |
2 | g.21002929G>C | CA345971123 | APOB | c.12493C>G (p.Gln4165Glu) c.5870-3656C>G (n.5870-3656C>G) | |
2 | g.21002929G>T | CA345971124 | APOB | c.12493C>A (p.Gln4165Lys) c.5870-3656C>A (n.5870-3656C>A) | |
2 | g.21002930G>A | CA425342239 | APOB | c.12492C>T (p.Phe4164=) c.5870-3657C>T (n.5870-3657C>T) | COSMIC |
2 | g.21002930G>C | CA345971126 | APOB | c.12492C>G (p.Phe4164Leu) c.5870-3657C>G (n.5870-3657C>G) | |
2 | g.21002930G>T | CA345971125 | APOB | c.12492C>A (p.Phe4164Leu) c.5870-3657C>A (n.5870-3657C>A) | |
2 | g.21002931A>C | CA345971127 | APOB | c.12491T>G (p.Phe4164Cys) c.5870-3658T>G (n.5870-3658T>G) | |
2 | g.21002931A>G | CA345971128 | APOB | c.12491T>C (p.Phe4164Ser) c.5870-3658T>C (n.5870-3658T>C) | |
2 | g.21002931A>T | CA345971129 | APOB | c.12491T>A (p.Phe4164Tyr) c.5870-3658T>A (n.5870-3658T>A) | |
2 | g.21002931_21002932insT | CA2830535060 | APOB | c.12490_12491insA (p.Phe4164TyrfsTer7) c.5870-3659_5870-3658insA (n.5870-3659_5870-3658insA) | |
2 | g.21002932A>C | CA345971130 | APOB | c.12490T>G (p.Phe4164Val) c.5870-3659T>G (n.5870-3659T>G) | |
2 | g.21002932A>G | CA345971131 | APOB | c.12490T>C (p.Phe4164Leu) c.5870-3659T>C (n.5870-3659T>C) | |
2 | g.21002932A>T | CA345971132 | APOB | c.12490T>A (p.Phe4164Ile) c.5870-3659T>A (n.5870-3659T>A) | |
2 | g.21002933A= | CA2493473195 | APOB | c.12489T= (p.Ser4163=) c.5870-3660T= (n.5870-3660T=) | |
2 | g.21002933A>C | CA345971133 | APOB | c.12489T>G (p.Ser4163Arg) c.5870-3660T>G (n.5870-3660T>G) | |
2 | g.21002933A>G | CA425342243 | APOB | c.12489T>C (p.Ser4163=) c.5870-3660T>C (n.5870-3660T>C) | dbSNP gnomAD v4 |
2 | g.21002933A>T | CA345971134 | APOB | c.12489T>A (p.Ser4163Arg) c.5870-3660T>A (n.5870-3660T>A) | |
2 | g.21002934C>A | CA345971135 | APOB | c.12488G>T (p.Ser4163Ile) c.5870-3661G>T (n.5870-3661G>T) | dbSNP |
2 | g.21002934C= | CA2493473196 | APOB | c.12488G= (p.Ser4163=) c.5870-3661G= (n.5870-3661G=) | |
2 | g.21002934C>G | CA345971136 | APOB | c.12488G>C (p.Ser4163Thr) c.5870-3661G>C (n.5870-3661G>C) | |
2 | g.21002934C>T | CA345971137 | APOB | c.12488G>A (p.Ser4163Asn) c.5870-3661G>A (n.5870-3661G>A) | |
2 | g.21002934_21002935insGTGTTTGA | CA2830535062 | APOB | c.12487_12488insTCAAACAC (p.Ser4163IlefsTer25) c.5870-3662_5870-3661insTCAAACAC (n.5870-3662_5870-3661insTCAAACAC) | |
2 | g.21002935T>A | CA345971140 | APOB | c.12487A>T (p.Ser4163Cys) c.5870-3662A>T (n.5870-3662A>T) | |
2 | g.21002935T>C | CA345971139 | APOB | c.12487A>G (p.Ser4163Gly) c.5870-3662A>G (n.5870-3662A>G) | |
2 | g.21002935T>G | CA345971138 | APOB | c.12487A>C (p.Ser4163Arg) c.5870-3662A>C (n.5870-3662A>C) | |
2 | g.21002936G>A | CA425342250 | APOB | c.12486C>T (p.Ala4162=) c.5870-3663C>T (n.5870-3663C>T) | |
2 | g.21002936G>C | CA425342249 | APOB | c.12486C>G (p.Ala4162=) c.5870-3663C>G (n.5870-3663C>G) | |
2 | g.21002936G>T | CA425342247 | APOB | c.12486C>A (p.Ala4162=) c.5870-3663C>A (n.5870-3663C>A) | |
2 | g.21002937G>A | CA345971141 | APOB | c.12485C>T (p.Ala4162Val) c.5870-3664C>T (n.5870-3664C>T) | dbSNP gnomAD v2 |
2 | g.21002937G>C | CA345971142 | APOB | c.12485C>G (p.Ala4162Gly) c.5870-3664C>G (n.5870-3664C>G) | |
2 | g.21002937G= | CA2493473197 | APOB | c.12485C= (p.Ala4162=) c.5870-3664C= (n.5870-3664C=) | |
2 | g.21002937G>T | CA345971143 | APOB | c.12485C>A (p.Ala4162Asp) c.5870-3664C>A (n.5870-3664C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21002938C>A | CA345971144 | APOB | c.12484G>T (p.Ala4162Ser) c.5870-3665G>T (n.5870-3665G>T) | gnomAD v4 |
2 | g.21002938C= | CA2493473198 | APOB | c.12484G= (p.Ala4162=) c.5870-3665G= (n.5870-3665G=) | |
2 | g.21002938C>G | CA345971145 | APOB | c.12484G>C (p.Ala4162Pro) c.5870-3665G>C (n.5870-3665G>C) | |
2 | g.21002938C>T | CA050384 | APOB | c.12484G>A (p.Ala4162Thr) c.5870-3665G>A (n.5870-3665G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21002939T>A | CA345971146 | APOB | c.12483A>T (p.Gln4161His) c.5870-3666A>T (n.5870-3666A>T) | |
2 | g.21002939T>C | CA050375 | APOB | c.12483A>G (p.Gln4161=) c.5870-3666A>G (n.5870-3666A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21002939T>G | CA345971147 | APOB | c.12483A>C (p.Gln4161His) c.5870-3666A>C (n.5870-3666A>C) | |
2 | g.21002939T= | CA2493473199 | APOB | c.12483A= (p.Gln4161=) c.5870-3666A= (n.5870-3666A=) | |
2 | g.21002940T>A | CA345971148 | APOB | c.12482A>T (p.Gln4161Leu) c.5870-3667A>T (n.5870-3667A>T) | |
2 | g.21002940T>C | CA345971149 | APOB | c.12482A>G (p.Gln4161Arg) c.5870-3667A>G (n.5870-3667A>G) | |
2 | g.21002940T>G | CA345971150 | APOB | c.12482A>C (p.Gln4161Pro) c.5870-3667A>C (n.5870-3667A>C) | |
2 | g.21002941G>A | CA345971153 | APOB | c.12481C>T (p.Gln4161Ter) c.5870-3668C>T (n.5870-3668C>T) | |
2 | g.21002941G>C | CA345971151 | APOB | c.12481C>G (p.Gln4161Glu) c.5870-3668C>G (n.5870-3668C>G) | |
2 | g.21002941G>T | CA345971152 | APOB | c.12481C>A (p.Gln4161Lys) c.5870-3668C>A (n.5870-3668C>A) | |
2 | g.21002942G>A | CA425342255 | APOB | c.12480C>T (p.Gly4160=) c.5870-3669C>T (n.5870-3669C>T) | |
2 | g.21002942G>C | CA425342256 | APOB | c.12480C>G (p.Gly4160=) c.5870-3669C>G (n.5870-3669C>G) | |
2 | g.21002942G>T | CA425342258 | APOB | c.12480C>A (p.Gly4160=) c.5870-3669C>A (n.5870-3669C>A) | |
2 | g.21002942_21002943delinsGC | CA2493473200 | APOB | c.12479_12480delinsGC (p.Gly4160=) c.5870-3670_5870-3669delinsGC (n.5870-3670_5870-3669delinsGC) | |
2 | g.21002943C>A | CA345971154 | APOB | c.12479G>T (p.Gly4160Val) c.5870-3670G>T (n.5870-3670G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21002943C= | CA2493473202 | APOB | c.12479G= (p.Gly4160=) c.5870-3670G= (n.5870-3670G=) | |
2 | g.21002943C>G | CA345971155 | APOB | c.12479G>C (p.Gly4160Ala) c.5870-3670G>C (n.5870-3670G>C) | |
2 | g.21002943C>T | CA345971156 | APOB | c.12479G>A (p.Gly4160Asp) c.5870-3670G>A (n.5870-3670G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21002944del | CA2493473201 | APOB | c.12479del (p.Gly4160AlafsTer25) c.5870-3670del (n.5870-3670del) | dbSNP |
2 | g.21002944C>A | CA345971157 | APOB | c.12478G>T (p.Gly4160Cys) c.5870-3671G>T (n.5870-3671G>T) | |
2 | g.21002944C= | CA2493473203 | APOB | c.12478G= (p.Gly4160=) c.5870-3671G= (n.5870-3671G=) | |
2 | g.21002944C>G | CA345971158 | APOB | c.12478G>C (p.Gly4160Arg) c.5870-3671G>C (n.5870-3671G>C) | dbSNP |
2 | g.21002944C>T | CA345971159 | APOB | c.12478G>A (p.Gly4160Ser) c.5870-3671G>A (n.5870-3671G>A) | gnomAD v4 |
2 | g.21002945T>A | CA345971160 | APOB | c.12477A>T (p.Glu4159Asp) c.5870-3672A>T (n.5870-3672A>T) | |
2 | g.21002945T>C | CA425342260 | APOB | c.12477A>G (p.Glu4159=) c.5870-3672A>G (n.5870-3672A>G) | |
2 | g.21002945T>G | CA345971161 | APOB | c.12477A>C (p.Glu4159Asp) c.5870-3672A>C (n.5870-3672A>C) |