WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16156103_16164220del | CA645372585 | ABCC6 | c.3307-1006_3883-227del c.3307-1006_3883-1050del c.320+1425_697-1050del c.3131+1425_3508-1050del c.*516-1006_*1092-1050del c.3274-1006_3850-1050del c.2965-1006_3541-1050del n.3542-1006_4118-227del n.3542+1425_3919-1050del n.3542+1425_3919-227del n.3168+1425_3545-1050del c.3139-1006_3715-1050del c.3343-1006_3919-1050del n.3488-1006_4064-227del n.3487+1425_3864-1050del n.3487+1425_3864-227del | ClinVar |
| 16 | g.16159508G>A | CA278628748 | ABCC6 | c.3709C>T (p.Gln1237Ter) c.523C>T (p.Gln175Ter) c.3334C>T (n.3334C>T) c.*918C>T (n.*918C>T) c.3676C>T (p.Gln1226Ter) c.3367C>T (p.Gln1123Ter) n.3944C>T n.3745C>T n.539-273G>A n.3371C>T c.3541C>T (p.Gln1181Ter) c.3745C>T (p.Gln1249Ter) n.3890C>T n.3690C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16159508G>C | CA394878726 | ABCC6 | c.3709C>G (p.Gln1237Glu) c.523C>G (p.Gln175Glu) c.3334C>G (n.3334C>G) c.*918C>G (n.*918C>G) c.3676C>G (p.Gln1226Glu) c.3367C>G (p.Gln1123Glu) n.3944C>G n.3745C>G n.539-273G>C n.3371C>G c.3541C>G (p.Gln1181Glu) c.3745C>G (p.Gln1249Glu) n.3890C>G n.3690C>G | |
| 16 | g.16159508G= | CA2210131827 | ABCC6 | c.3709C= (p.Gln1237=) c.523C= (p.Gln175=) c.3334C= (n.3334C=) c.*918C= (n.*918C=) c.3676C= (p.Gln1226=) c.3367C= (p.Gln1123=) n.3944C= n.3745C= n.539-273G= n.3371C= c.3541C= (p.Gln1181=) c.3745C= (p.Gln1249=) n.3890C= n.3690C= | |
| 16 | g.16159508G>T | CA394878727 | ABCC6 | c.3709C>A (p.Gln1237Lys) c.523C>A (p.Gln175Lys) c.3334C>A (n.3334C>A) c.*918C>A (n.*918C>A) c.3676C>A (p.Gln1226Lys) c.3367C>A (p.Gln1123Lys) n.3944C>A n.3745C>A n.539-273G>T n.3371C>A c.3541C>A (p.Gln1181Lys) c.3745C>A (p.Gln1249Lys) n.3890C>A n.3690C>A | |
| 16 | g.16159509C>A | CA394878729 | ABCC6 | c.3708G>T (p.Met1236Ile) c.522G>T (p.Met174Ile) c.3333G>T (n.3333G>T) c.*917G>T (n.*917G>T) c.3675G>T (p.Met1225Ile) c.3366G>T (p.Met1122Ile) n.3943G>T n.3744G>T n.539-272C>A n.3370G>T c.3540G>T (p.Met1180Ile) c.3744G>T (p.Met1248Ile) n.3889G>T n.3689G>T | |
| 16 | g.16159509C= | CA2210131836 | ABCC6 | c.3708G= (p.Met1236=) c.522G= (p.Met174=) c.3333G= (n.3333G=) c.*917G= (n.*917G=) c.3675G= (p.Met1225=) c.3366G= (p.Met1122=) n.3943G= n.3744G= n.539-272C= n.3370G= c.3540G= (p.Met1180=) c.3744G= (p.Met1248=) n.3889G= n.3689G= | |
| 16 | g.16159509C>G | CA394878728 | ABCC6 | c.3708G>C (p.Met1236Ile) c.522G>C (p.Met174Ile) c.3333G>C (n.3333G>C) c.*917G>C (n.*917G>C) c.3675G>C (p.Met1225Ile) c.3366G>C (p.Met1122Ile) n.3943G>C n.3744G>C n.539-272C>G n.3370G>C c.3540G>C (p.Met1180Ile) c.3744G>C (p.Met1248Ile) n.3889G>C n.3689G>C | |
| 16 | g.16159509C>T | CA7925478 | ABCC6 | c.3708G>A (p.Met1236Ile) c.522G>A (p.Met174Ile) c.3333G>A (n.3333G>A) c.*917G>A (n.*917G>A) c.3675G>A (p.Met1225Ile) c.3366G>A (p.Met1122Ile) n.3943G>A n.3744G>A n.539-272C>T n.3370G>A c.3540G>A (p.Met1180Ile) c.3744G>A (p.Met1248Ile) n.3889G>A n.3689G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16159510A>C | CA394878730 | ABCC6 | c.3707T>G (p.Met1236Arg) c.521T>G (p.Met174Arg) c.3332T>G (n.3332T>G) c.*916T>G (n.*916T>G) c.3674T>G (p.Met1225Arg) c.3365T>G (p.Met1122Arg) n.3942T>G n.3743T>G n.539-271A>C n.3369T>G c.3539T>G (p.Met1180Arg) c.3743T>G (p.Met1248Arg) n.3888T>G n.3688T>G | |
| 16 | g.16159510A>G | CA394878731 | ABCC6 | c.3707T>C (p.Met1236Thr) c.521T>C (p.Met174Thr) c.3332T>C (n.3332T>C) c.*916T>C (n.*916T>C) c.3674T>C (p.Met1225Thr) c.3365T>C (p.Met1122Thr) n.3942T>C n.3743T>C n.539-271A>G n.3369T>C c.3539T>C (p.Met1180Thr) c.3743T>C (p.Met1248Thr) n.3888T>C n.3688T>C | |
| 16 | g.16159510A>T | CA394878732 | ABCC6 | c.3707T>A (p.Met1236Lys) c.521T>A (p.Met174Lys) c.3332T>A (n.3332T>A) c.*916T>A (n.*916T>A) c.3674T>A (p.Met1225Lys) c.3365T>A (p.Met1122Lys) n.3942T>A n.3743T>A n.539-271A>T n.3369T>A c.3539T>A (p.Met1180Lys) c.3743T>A (p.Met1248Lys) n.3888T>A n.3688T>A | |
| 16 | g.16159511T>A | CA394878733 | ABCC6 | c.3706A>T (p.Met1236Leu) c.520A>T (p.Met174Leu) c.3331A>T (n.3331A>T) c.*915A>T (n.*915A>T) c.3673A>T (p.Met1225Leu) c.3364A>T (p.Met1122Leu) n.3941A>T n.3742A>T n.539-270T>A n.3368A>T c.3538A>T (p.Met1180Leu) c.3742A>T (p.Met1248Leu) n.3887A>T n.3687A>T | |
| 16 | g.16159511T>C | CA394878734 | ABCC6 | c.3706A>G (p.Met1236Val) c.520A>G (p.Met174Val) c.3331A>G (n.3331A>G) c.*915A>G (n.*915A>G) c.3673A>G (p.Met1225Val) c.3364A>G (p.Met1122Val) n.3941A>G n.3742A>G n.539-270T>C n.3368A>G c.3538A>G (p.Met1180Val) c.3742A>G (p.Met1248Val) n.3887A>G n.3687A>G | |
| 16 | g.16159511T>G | CA394878735 | ABCC6 | c.3706A>C (p.Met1236Leu) c.520A>C (p.Met174Leu) c.3331A>C (n.3331A>C) c.*915A>C (n.*915A>C) c.3673A>C (p.Met1225Leu) c.3364A>C (p.Met1122Leu) n.3941A>C n.3742A>C n.539-270T>G n.3368A>C c.3538A>C (p.Met1180Leu) c.3742A>C (p.Met1248Leu) n.3887A>C n.3687A>C | |
| 16 | g.16159512C>A | CA493798018 | ABCC6 | c.3705G>T (p.Arg1235=) c.519G>T (p.Arg173=) c.3330G>T (n.3330G>T) c.*914G>T (n.*914G>T) c.3672G>T (p.Arg1224=) c.3363G>T (p.Arg1121=) n.3940G>T n.3741G>T n.539-269C>A n.3367G>T c.3537G>T (p.Arg1179=) c.3741G>T (p.Arg1247=) n.3886G>T n.3686G>T | |
| 16 | g.16159512C>G | CA493798019 | ABCC6 | c.3705G>C (p.Arg1235=) c.519G>C (p.Arg173=) c.3330G>C (n.3330G>C) c.*914G>C (n.*914G>C) c.3672G>C (p.Arg1224=) c.3363G>C (p.Arg1121=) n.3940G>C n.3741G>C n.539-269C>G n.3367G>C c.3537G>C (p.Arg1179=) c.3741G>C (p.Arg1247=) n.3886G>C n.3686G>C | |
| 16 | g.16159512C>T | CA493798020 | ABCC6 | c.3705G>A (p.Arg1235=) c.519G>A (p.Arg173=) c.3330G>A (n.3330G>A) c.*914G>A (n.*914G>A) c.3672G>A (p.Arg1224=) c.3363G>A (p.Arg1121=) n.3940G>A n.3741G>A n.539-269C>T n.3367G>A c.3537G>A (p.Arg1179=) c.3741G>A (p.Arg1247=) n.3886G>A n.3686G>A | |
| 16 | g.16159513C>A | CA394878736 | ABCC6 | c.3704G>T (p.Arg1235Leu) c.518G>T (p.Arg173Leu) c.3329G>T (n.3329G>T) c.*913G>T (n.*913G>T) c.3671G>T (p.Arg1224Leu) c.3362G>T (p.Arg1121Leu) n.3939G>T n.3740G>T n.539-268C>A n.3366G>T c.3536G>T (p.Arg1179Leu) c.3740G>T (p.Arg1247Leu) n.3885G>T n.3685G>T | gnomAD v4 |
| 16 | g.16159513C= | CA2210131865 | ABCC6 | c.3704G= (p.Arg1235=) c.518G= (p.Arg173=) c.3329G= (n.3329G=) c.*913G= (n.*913G=) c.3671G= (p.Arg1224=) c.3362G= (p.Arg1121=) n.3939G= n.3740G= n.539-268C= n.3366G= c.3536G= (p.Arg1179=) c.3740G= (p.Arg1247=) n.3885G= n.3685G= | |
| 16 | g.16159513C>G | CA394878737 | ABCC6 | c.3704G>C (p.Arg1235Pro) c.518G>C (p.Arg173Pro) c.3329G>C (n.3329G>C) c.*913G>C (n.*913G>C) c.3671G>C (p.Arg1224Pro) c.3362G>C (p.Arg1121Pro) n.3939G>C n.3740G>C n.539-268C>G n.3366G>C c.3536G>C (p.Arg1179Pro) c.3740G>C (p.Arg1247Pro) n.3885G>C n.3685G>C | |
| 16 | g.16159513C>T | CA7925479 | ABCC6 | c.3704G>A (p.Arg1235Gln) c.518G>A (p.Arg173Gln) c.3329G>A (n.3329G>A) c.*913G>A (n.*913G>A) c.3671G>A (p.Arg1224Gln) c.3362G>A (p.Arg1121Gln) n.3939G>A n.3740G>A n.539-268C>T n.3366G>A c.3536G>A (p.Arg1179Gln) c.3740G>A (p.Arg1247Gln) n.3885G>A n.3685G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.16159514G>A | CA7925480 | ABCC6 | c.3703C>T (p.Arg1235Trp) c.517C>T (p.Arg173Trp) c.3328C>T (n.3328C>T) c.*912C>T (n.*912C>T) c.3670C>T (p.Arg1224Trp) c.3361C>T (p.Arg1121Trp) n.3938C>T n.3739C>T n.539-267G>A n.3365C>T c.3535C>T (p.Arg1179Trp) c.3739C>T (p.Arg1247Trp) n.3884C>T n.3684C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.16159514G>C | CA394878738 | ABCC6 | c.3703C>G (p.Arg1235Gly) c.517C>G (p.Arg173Gly) c.3328C>G (n.3328C>G) c.*912C>G (n.*912C>G) c.3670C>G (p.Arg1224Gly) c.3361C>G (p.Arg1121Gly) n.3938C>G n.3739C>G n.539-267G>C n.3365C>G c.3535C>G (p.Arg1179Gly) c.3739C>G (p.Arg1247Gly) n.3884C>G n.3684C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16159514G= | CA2210131871 | ABCC6 | c.3703C= (p.Arg1235=) c.517C= (p.Arg173=) c.3328C= (n.3328C=) c.*912C= (n.*912C=) c.3670C= (p.Arg1224=) c.3361C= (p.Arg1121=) n.3938C= n.3739C= n.539-267G= n.3365C= c.3535C= (p.Arg1179=) c.3739C= (p.Arg1247=) n.3884C= n.3684C= | |
| 16 | g.16159514G>T | CA493798024 | ABCC6 | c.3703C>A (p.Arg1235=) c.517C>A (p.Arg173=) c.3328C>A (n.3328C>A) c.*912C>A (n.*912C>A) c.3670C>A (p.Arg1224=) c.3361C>A (p.Arg1121=) n.3938C>A n.3739C>A n.539-267G>T n.3365C>A c.3535C>A (p.Arg1179=) c.3739C>A (p.Arg1247=) n.3884C>A n.3684C>A | gnomAD v4 |
| 16 | g.16159515C>A | CA394878739 | ABCC6 | c.3702G>T (p.Glu1234Asp) c.516G>T (p.Glu172Asp) c.3327G>T (n.3327G>T) c.*911G>T (n.*911G>T) c.3669G>T (p.Glu1223Asp) c.3360G>T (p.Glu1120Asp) n.3937G>T n.3738G>T n.539-266C>A n.3364G>T c.3534G>T (p.Glu1178Asp) c.3738G>T (p.Glu1246Asp) n.3883G>T n.3683G>T | |
| 16 | g.16159515C>G | CA394878740 | ABCC6 | c.3702G>C (p.Glu1234Asp) c.516G>C (p.Glu172Asp) c.3327G>C (n.3327G>C) c.*911G>C (n.*911G>C) c.3669G>C (p.Glu1223Asp) c.3360G>C (p.Glu1120Asp) n.3937G>C n.3738G>C n.539-266C>G n.3364G>C c.3534G>C (p.Glu1178Asp) c.3738G>C (p.Glu1246Asp) n.3883G>C n.3683G>C | |
| 16 | g.16159515C>T | CA493798025 | ABCC6 | c.3702G>A (p.Glu1234=) c.516G>A (p.Glu172=) c.3327G>A (n.3327G>A) c.*911G>A (n.*911G>A) c.3669G>A (p.Glu1223=) c.3360G>A (p.Glu1120=) n.3937G>A n.3738G>A n.539-266C>T n.3364G>A c.3534G>A (p.Glu1178=) c.3738G>A (p.Glu1246=) n.3883G>A n.3683G>A | |
| 16 | g.16159516T>A | CA394878741 | ABCC6 | c.3701A>T (p.Glu1234Val) c.515A>T (p.Glu172Val) c.3326A>T (n.3326A>T) c.*910A>T (n.*910A>T) c.3668A>T (p.Glu1223Val) c.3359A>T (p.Glu1120Val) n.3936A>T n.3737A>T n.539-265T>A n.3363A>T c.3533A>T (p.Glu1178Val) c.3737A>T (p.Glu1246Val) n.3882A>T n.3682A>T | |
| 16 | g.16159516T>C | CA394878742 | ABCC6 | c.3701A>G (p.Glu1234Gly) c.515A>G (p.Glu172Gly) c.3326A>G (n.3326A>G) c.*910A>G (n.*910A>G) c.3668A>G (p.Glu1223Gly) c.3359A>G (p.Glu1120Gly) n.3936A>G n.3737A>G n.539-265T>C n.3363A>G c.3533A>G (p.Glu1178Gly) c.3737A>G (p.Glu1246Gly) n.3882A>G n.3682A>G | |
| 16 | g.16159516T>G | CA394878743 | ABCC6 | c.3701A>C (p.Glu1234Ala) c.515A>C (p.Glu172Ala) c.3326A>C (n.3326A>C) c.*910A>C (n.*910A>C) c.3668A>C (p.Glu1223Ala) c.3359A>C (p.Glu1120Ala) n.3936A>C n.3737A>C n.539-265T>G n.3363A>C c.3533A>C (p.Glu1178Ala) c.3737A>C (p.Glu1246Ala) n.3882A>C n.3682A>C | |
| 16 | g.16159517C>A | CA394878744 | ABCC6 | c.3700G>T (p.Glu1234Ter) c.514G>T (p.Glu172Ter) c.3325G>T (n.3325G>T) c.*909G>T (n.*909G>T) c.3667G>T (p.Glu1223Ter) c.3358G>T (p.Glu1120Ter) n.3935G>T n.3736G>T n.539-264C>A n.3362G>T c.3532G>T (p.Glu1178Ter) c.3736G>T (p.Glu1246Ter) n.3881G>T n.3681G>T | |
| 16 | g.16159517C>G | CA394878745 | ABCC6 | c.3700G>C (p.Glu1234Gln) c.514G>C (p.Glu172Gln) c.3325G>C (n.3325G>C) c.*909G>C (n.*909G>C) c.3667G>C (p.Glu1223Gln) c.3358G>C (p.Glu1120Gln) n.3935G>C n.3736G>C n.539-264C>G n.3362G>C c.3532G>C (p.Glu1178Gln) c.3736G>C (p.Glu1246Gln) n.3881G>C n.3681G>C | |
| 16 | g.16159517C>T | CA394878746 | ABCC6 | c.3700G>A (p.Glu1234Lys) c.514G>A (p.Glu172Lys) c.3325G>A (n.3325G>A) c.*909G>A (n.*909G>A) c.3667G>A (p.Glu1223Lys) c.3358G>A (p.Glu1120Lys) n.3935G>A n.3736G>A n.539-264C>T n.3362G>A c.3532G>A (p.Glu1178Lys) c.3736G>A (p.Glu1246Lys) n.3881G>A n.3681G>A | gnomAD v4 |
| 16 | g.16159518C>A | CA493798027 | ABCC6 | c.3699G>T (p.Val1233=) c.513G>T (p.Val171=) c.3324G>T (n.3324G>T) c.*908G>T (n.*908G>T) c.3666G>T (p.Val1222=) c.3357G>T (p.Val1119=) n.3934G>T n.3735G>T n.539-263C>A n.3361G>T c.3531G>T (p.Val1177=) c.3735G>T (p.Val1245=) n.3880G>T n.3680G>T | |
| 16 | g.16159518C= | CA2210131878 | ABCC6 | c.3699G= (p.Val1233=) c.513G= (p.Val171=) c.3324G= (n.3324G=) c.*908G= (n.*908G=) c.3666G= (p.Val1222=) c.3357G= (p.Val1119=) n.3934G= n.3735G= n.539-263C= n.3361G= c.3531G= (p.Val1177=) c.3735G= (p.Val1245=) n.3880G= n.3680G= | |
| 16 | g.16159518C>G | CA493798028 | ABCC6 | c.3699G>C (p.Val1233=) c.513G>C (p.Val171=) c.3324G>C (n.3324G>C) c.*908G>C (n.*908G>C) c.3666G>C (p.Val1222=) c.3357G>C (p.Val1119=) n.3934G>C n.3735G>C n.539-263C>G n.3361G>C c.3531G>C (p.Val1177=) c.3735G>C (p.Val1245=) n.3880G>C n.3680G>C | |
| 16 | g.16159518C>T | CA7925481 | ABCC6 | c.3699G>A (p.Val1233=) c.513G>A (p.Val171=) c.3324G>A (n.3324G>A) c.*908G>A (n.*908G>A) c.3666G>A (p.Val1222=) c.3357G>A (p.Val1119=) n.3934G>A n.3735G>A n.539-263C>T n.3361G>A c.3531G>A (p.Val1177=) c.3735G>A (p.Val1245=) n.3880G>A n.3680G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16159519A= | CA2210131882 | ABCC6 | c.3698T= (p.Val1233=) c.512T= (p.Val171=) c.3323T= (n.3323T=) c.*907T= (n.*907T=) c.3665T= (p.Val1222=) c.3356T= (p.Val1119=) n.3933T= n.3734T= n.539-262A= n.3360T= c.3530T= (p.Val1177=) c.3734T= (p.Val1245=) n.3879T= n.3679T= | |
| 16 | g.16159519A>C | CA394878747 | ABCC6 | c.3698T>G (p.Val1233Gly) c.512T>G (p.Val171Gly) c.3323T>G (n.3323T>G) c.*907T>G (n.*907T>G) c.3665T>G (p.Val1222Gly) c.3356T>G (p.Val1119Gly) n.3933T>G n.3734T>G n.539-262A>C n.3360T>G c.3530T>G (p.Val1177Gly) c.3734T>G (p.Val1245Gly) n.3879T>G n.3679T>G | |
| 16 | g.16159519A>G | CA7925482 | ABCC6 | c.3698T>C (p.Val1233Ala) c.512T>C (p.Val171Ala) c.3323T>C (n.3323T>C) c.*907T>C (n.*907T>C) c.3665T>C (p.Val1222Ala) c.3356T>C (p.Val1119Ala) n.3933T>C n.3734T>C n.539-262A>G n.3360T>C c.3530T>C (p.Val1177Ala) c.3734T>C (p.Val1245Ala) n.3879T>C n.3679T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16159519A>T | CA394878748 | ABCC6 | c.3698T>A (p.Val1233Glu) c.512T>A (p.Val171Glu) c.3323T>A (n.3323T>A) c.*907T>A (n.*907T>A) c.3665T>A (p.Val1222Glu) c.3356T>A (p.Val1119Glu) n.3933T>A n.3734T>A n.539-262A>T n.3360T>A c.3530T>A (p.Val1177Glu) c.3734T>A (p.Val1245Glu) n.3879T>A n.3679T>A | |
| 16 | g.16159520C>A | CA394878749 | ABCC6 | c.3697G>T (p.Val1233Leu) c.511G>T (p.Val171Leu) c.3322G>T (n.3322G>T) c.*906G>T (n.*906G>T) c.3664G>T (p.Val1222Leu) c.3355G>T (p.Val1119Leu) n.3932G>T n.3733G>T n.539-261C>A n.3359G>T c.3529G>T (p.Val1177Leu) c.3733G>T (p.Val1245Leu) n.3878G>T n.3678G>T | |
| 16 | g.16159520C>G | CA394878750 | ABCC6 | c.3697G>C (p.Val1233Leu) c.511G>C (p.Val171Leu) c.3322G>C (n.3322G>C) c.*906G>C (n.*906G>C) c.3664G>C (p.Val1222Leu) c.3355G>C (p.Val1119Leu) n.3932G>C n.3733G>C n.539-261C>G n.3359G>C c.3529G>C (p.Val1177Leu) c.3733G>C (p.Val1245Leu) n.3878G>C n.3678G>C | |
| 16 | g.16159520C>T | CA394878751 | ABCC6 | c.3697G>A (p.Val1233Met) c.511G>A (p.Val171Met) c.3322G>A (n.3322G>A) c.*906G>A (n.*906G>A) c.3664G>A (p.Val1222Met) c.3355G>A (p.Val1119Met) n.3932G>A n.3733G>A n.539-261C>T n.3359G>A c.3529G>A (p.Val1177Met) c.3733G>A (p.Val1245Met) n.3878G>A n.3678G>A | gnomAD v4 |
| 16 | g.16159521T>A | CA493798033 | ABCC6 | c.3696A>T (p.Ser1232=) c.510A>T (p.Ser170=) c.3321A>T (n.3321A>T) c.*905A>T (n.*905A>T) c.3663A>T (p.Ser1221=) c.3354A>T (p.Ser1118=) n.3931A>T n.3732A>T n.539-260T>A n.3358A>T c.3528A>T (p.Ser1176=) c.3732A>T (p.Ser1244=) n.3877A>T n.3677A>T | |
| 16 | g.16159521T>C | CA493798032 | ABCC6 | c.3696A>G (p.Ser1232=) c.510A>G (p.Ser170=) c.3321A>G (n.3321A>G) c.*905A>G (n.*905A>G) c.3663A>G (p.Ser1221=) c.3354A>G (p.Ser1118=) n.3931A>G n.3732A>G n.539-260T>C n.3358A>G c.3528A>G (p.Ser1176=) c.3732A>G (p.Ser1244=) n.3877A>G n.3677A>G | gnomAD v4 |
| 16 | g.16159521T>G | CA493798031 | ABCC6 | c.3696A>C (p.Ser1232=) c.510A>C (p.Ser170=) c.3321A>C (n.3321A>C) c.*905A>C (n.*905A>C) c.3663A>C (p.Ser1221=) c.3354A>C (p.Ser1118=) n.3931A>C n.3732A>C n.539-260T>G n.3358A>C c.3528A>C (p.Ser1176=) c.3732A>C (p.Ser1244=) n.3877A>C n.3677A>C | |
| 16 | g.16159522G>A | CA394878754 | ABCC6 | c.3695C>T (p.Ser1232Leu) c.509C>T (p.Ser170Leu) c.3320C>T (n.3320C>T) c.*904C>T (n.*904C>T) c.3662C>T (p.Ser1221Leu) c.3353C>T (p.Ser1118Leu) n.3930C>T n.3731C>T n.539-259G>A n.3357C>T c.3527C>T (p.Ser1176Leu) c.3731C>T (p.Ser1244Leu) n.3876C>T n.3676C>T | dbSNP |