Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.16155024A= | CA2210141080 | ABCC6 | n.753T= c.*62T= (n.*62T=) c.3890T= (p.Ile1297=) c.704T= (p.Ile235=) c.3515T= (n.3515T=) c.*1099T= (n.*1099T=) c.3857T= (p.Ile1286=) c.3548T= (p.Ile1183=) n.4188T= n.3926T= n.3989T= n.539-4757A= n.3552T= c.3722T= (p.Ile1241=) c.3926T= (p.Ile1309=) n.4134T= n.3871T= n.3934T= | |
16 | g.16155024A>C | CA394876259 | ABCC6 | n.753T>G c.*62T>G (n.*62T>G) c.3890T>G (p.Ile1297Ser) c.704T>G (p.Ile235Ser) c.3515T>G (n.3515T>G) c.*1099T>G (n.*1099T>G) c.3857T>G (p.Ile1286Ser) c.3548T>G (p.Ile1183Ser) n.4188T>G n.3926T>G n.3989T>G n.539-4757A>C n.3552T>G c.3722T>G (p.Ile1241Ser) c.3926T>G (p.Ile1309Ser) n.4134T>G n.3871T>G n.3934T>G | |
16 | g.16155024A>G | CA394876262 | ABCC6 | n.753T>C c.*62T>C (n.*62T>C) c.3890T>C (p.Ile1297Thr) c.704T>C (p.Ile235Thr) c.3515T>C (n.3515T>C) c.*1099T>C (n.*1099T>C) c.3857T>C (p.Ile1286Thr) c.3548T>C (p.Ile1183Thr) n.4188T>C n.3926T>C n.3989T>C n.539-4757A>G n.3552T>C c.3722T>C (p.Ile1241Thr) c.3926T>C (p.Ile1309Thr) n.4134T>C n.3871T>C n.3934T>C | |
16 | g.16155024A>T | CA394876269 | ABCC6 | n.753T>A c.*62T>A (n.*62T>A) c.3890T>A (p.Ile1297Asn) c.704T>A (p.Ile235Asn) c.3515T>A (n.3515T>A) c.*1099T>A (n.*1099T>A) c.3857T>A (p.Ile1286Asn) c.3548T>A (p.Ile1183Asn) n.4188T>A n.3926T>A n.3989T>A n.539-4757A>T n.3552T>A c.3722T>A (p.Ile1241Asn) c.3926T>A (p.Ile1309Asn) n.4134T>A n.3871T>A n.3934T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.16155025T>A | CA394876274 | ABCC6 | n.752A>T c.*61A>T (n.*61A>T) c.3889A>T (p.Ile1297Phe) c.703A>T (p.Ile235Phe) c.3514A>T (n.3514A>T) c.*1098A>T (n.*1098A>T) c.3856A>T (p.Ile1286Phe) c.3547A>T (p.Ile1183Phe) n.4187A>T n.3925A>T n.3988A>T n.539-4756T>A n.3551A>T c.3721A>T (p.Ile1241Phe) c.3925A>T (p.Ile1309Phe) n.4133A>T n.3870A>T n.3933A>T | gnomAD v4 |
16 | g.16155025T>C | CA394876279 | ABCC6 | n.752A>G c.*61A>G (n.*61A>G) c.3889A>G (p.Ile1297Val) c.703A>G (p.Ile235Val) c.3514A>G (n.3514A>G) c.*1098A>G (n.*1098A>G) c.3856A>G (p.Ile1286Val) c.3547A>G (p.Ile1183Val) n.4187A>G n.3925A>G n.3988A>G n.539-4756T>C n.3551A>G c.3721A>G (p.Ile1241Val) c.3925A>G (p.Ile1309Val) n.4133A>G n.3870A>G n.3933A>G | gnomAD v4 |
16 | g.16155025T>G | CA394876276 | ABCC6 | n.752A>C c.*61A>C (n.*61A>C) c.3889A>C (p.Ile1297Leu) c.703A>C (p.Ile235Leu) c.3514A>C (n.3514A>C) c.*1098A>C (n.*1098A>C) c.3856A>C (p.Ile1286Leu) c.3547A>C (p.Ile1183Leu) n.4187A>C n.3925A>C n.3988A>C n.539-4756T>G n.3551A>C c.3721A>C (p.Ile1241Leu) c.3925A>C (p.Ile1309Leu) n.4133A>C n.3870A>C n.3933A>C | |
16 | g.16155026G>A | CA493797493 | ABCC6 | n.751C>T c.*60C>T (n.*60C>T) c.3888C>T (p.Gly1296=) c.702C>T (p.Gly234=) c.3513C>T (n.3513C>T) c.*1097C>T (n.*1097C>T) c.3855C>T (p.Gly1285=) c.3546C>T (p.Gly1182=) n.4186C>T n.3924C>T n.3987C>T n.539-4755G>A n.3550C>T c.3720C>T (p.Gly1240=) c.3924C>T (p.Gly1308=) n.4132C>T n.3869C>T n.3932C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.16155026G>C | CA493797492 | ABCC6 | n.751C>G c.*60C>G (n.*60C>G) c.3888C>G (p.Gly1296=) c.702C>G (p.Gly234=) c.3513C>G (n.3513C>G) c.*1097C>G (n.*1097C>G) c.3855C>G (p.Gly1285=) c.3546C>G (p.Gly1182=) n.4186C>G n.3924C>G n.3987C>G n.539-4755G>C n.3550C>G c.3720C>G (p.Gly1240=) c.3924C>G (p.Gly1308=) n.4132C>G n.3869C>G n.3932C>G | |
16 | g.16155026G= | CA2210141082 | ABCC6 | n.751C= c.*60C= (n.*60C=) c.3888C= (p.Gly1296=) c.702C= (p.Gly234=) c.3513C= (n.3513C=) c.*1097C= (n.*1097C=) c.3855C= (p.Gly1285=) c.3546C= (p.Gly1182=) n.4186C= n.3924C= n.3987C= n.539-4755G= n.3550C= c.3720C= (p.Gly1240=) c.3924C= (p.Gly1308=) n.4132C= n.3869C= n.3932C= | |
16 | g.16155026G>T | CA493797490 | ABCC6 | n.751C>A c.*60C>A (n.*60C>A) c.3888C>A (p.Gly1296=) c.702C>A (p.Gly234=) c.3513C>A (n.3513C>A) c.*1097C>A (n.*1097C>A) c.3855C>A (p.Gly1285=) c.3546C>A (p.Gly1182=) n.4186C>A n.3924C>A n.3987C>A n.539-4755G>T n.3550C>A c.3720C>A (p.Gly1240=) c.3924C>A (p.Gly1308=) n.4132C>A n.3869C>A n.3932C>A | gnomAD v4 |
16 | g.16155027C>A | CA394876282 | ABCC6 | n.750G>T c.*59G>T (n.*59G>T) c.3887G>T (p.Gly1296Val) c.701G>T (p.Gly234Val) c.3512G>T (n.3512G>T) c.*1096G>T (n.*1096G>T) c.3854G>T (p.Gly1285Val) c.3545G>T (p.Gly1182Val) n.4185G>T n.3923G>T n.3986G>T n.539-4754C>A n.3549G>T c.3719G>T (p.Gly1240Val) c.3923G>T (p.Gly1308Val) n.4131G>T n.3868G>T n.3931G>T | gnomAD v4 |
16 | g.16155027C= | CA2210141084 | ABCC6 | n.750G= c.*59G= (n.*59G=) c.3887G= (p.Gly1296=) c.701G= (p.Gly234=) c.3512G= (n.3512G=) c.*1096G= (n.*1096G=) c.3854G= (p.Gly1285=) c.3545G= (p.Gly1182=) n.4185G= n.3923G= n.3986G= n.539-4754C= n.3549G= c.3719G= (p.Gly1240=) c.3923G= (p.Gly1308=) n.4131G= n.3868G= n.3931G= | |
16 | g.16155027C>G | CA394876285 | ABCC6 | n.750G>C c.*59G>C (n.*59G>C) c.3887G>C (p.Gly1296Ala) c.701G>C (p.Gly234Ala) c.3512G>C (n.3512G>C) c.*1096G>C (n.*1096G>C) c.3854G>C (p.Gly1285Ala) c.3545G>C (p.Gly1182Ala) n.4185G>C n.3923G>C n.3986G>C n.539-4754C>G n.3549G>C c.3719G>C (p.Gly1240Ala) c.3923G>C (p.Gly1308Ala) n.4131G>C n.3868G>C n.3931G>C | gnomAD v4 |
16 | g.16155027C>T | CA7925379 | ABCC6 | n.750G>A c.*59G>A (n.*59G>A) c.3887G>A (p.Gly1296Asp) c.701G>A (p.Gly234Asp) c.3512G>A (n.3512G>A) c.*1096G>A (n.*1096G>A) c.3854G>A (p.Gly1285Asp) c.3545G>A (p.Gly1182Asp) n.4185G>A n.3923G>A n.3986G>A n.539-4754C>T n.3549G>A c.3719G>A (p.Gly1240Asp) c.3923G>A (p.Gly1308Asp) n.4131G>A n.3868G>A n.3931G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.16155028C>A | CA394876292 | ABCC6 | n.749G>T c.*58G>T (n.*58G>T) c.3886G>T (p.Gly1296Cys) c.700G>T (p.Gly234Cys) c.3511G>T (n.3511G>T) c.*1095G>T (n.*1095G>T) c.3853G>T (p.Gly1285Cys) c.3544G>T (p.Gly1182Cys) n.4184G>T n.3922G>T n.3985G>T n.539-4753C>A n.3548G>T c.3718G>T (p.Gly1240Cys) c.3922G>T (p.Gly1308Cys) n.4130G>T n.3867G>T n.3930G>T | |
16 | g.16155028C>G | CA394876296 | ABCC6 | n.749G>C c.*58G>C (n.*58G>C) c.3886G>C (p.Gly1296Arg) c.700G>C (p.Gly234Arg) c.3511G>C (n.3511G>C) c.*1095G>C (n.*1095G>C) c.3853G>C (p.Gly1285Arg) c.3544G>C (p.Gly1182Arg) n.4184G>C n.3922G>C n.3985G>C n.539-4753C>G n.3548G>C c.3718G>C (p.Gly1240Arg) c.3922G>C (p.Gly1308Arg) n.4130G>C n.3867G>C n.3930G>C | |
16 | g.16155028C>T | CA394876298 | ABCC6 | n.749G>A c.*58G>A (n.*58G>A) c.3886G>A (p.Gly1296Ser) c.700G>A (p.Gly234Ser) c.3511G>A (n.3511G>A) c.*1095G>A (n.*1095G>A) c.3853G>A (p.Gly1285Ser) c.3544G>A (p.Gly1182Ser) n.4184G>A n.3922G>A n.3985G>A n.539-4753C>T n.3548G>A c.3718G>A (p.Gly1240Ser) c.3922G>A (p.Gly1308Ser) n.4130G>A n.3867G>A n.3930G>A | gnomAD v4 |
16 | g.16155029C>A | CA493797499 | ABCC6 | n.748G>T c.*57G>T (n.*57G>T) c.3885G>T (p.Val1295=) c.699G>T (p.Val233=) c.3510G>T (n.3510G>T) c.*1094G>T (n.*1094G>T) c.3852G>T (p.Val1284=) c.3543G>T (p.Val1181=) n.4183G>T n.3921G>T n.3984G>T n.539-4752C>A n.3547G>T c.3717G>T (p.Val1239=) c.3921G>T (p.Val1307=) n.4129G>T n.3866G>T n.3929G>T | gnomAD v4 |
16 | g.16155029C= | CA2210141088 | ABCC6 | n.748G= c.*57G= (n.*57G=) c.3885G= (p.Val1295=) c.699G= (p.Val233=) c.3510G= (n.3510G=) c.*1094G= (n.*1094G=) c.3852G= (p.Val1284=) c.3543G= (p.Val1181=) n.4183G= n.3921G= n.3984G= n.539-4752C= n.3547G= c.3717G= (p.Val1239=) c.3921G= (p.Val1307=) n.4129G= n.3866G= n.3929G= | |
16 | g.16155029C>G | CA493797500 | ABCC6 | n.748G>C c.*57G>C (n.*57G>C) c.3885G>C (p.Val1295=) c.699G>C (p.Val233=) c.3510G>C (n.3510G>C) c.*1094G>C (n.*1094G>C) c.3852G>C (p.Val1284=) c.3543G>C (p.Val1181=) n.4183G>C n.3921G>C n.3984G>C n.539-4752C>G n.3547G>C c.3717G>C (p.Val1239=) c.3921G>C (p.Val1307=) n.4129G>C n.3866G>C n.3929G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.16155029C>T | CA7925380 | ABCC6 | n.748G>A c.*57G>A (n.*57G>A) c.3885G>A (p.Val1295=) c.699G>A (p.Val233=) c.3510G>A (n.3510G>A) c.*1094G>A (n.*1094G>A) c.3852G>A (p.Val1284=) c.3543G>A (p.Val1181=) n.4183G>A n.3921G>A n.3984G>A n.539-4752C>T n.3547G>A c.3717G>A (p.Val1239=) c.3921G>A (p.Val1307=) n.4129G>A n.3866G>A n.3929G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.16155030A= | CA2210141092 | ABCC6 | n.747T= c.*56T= (n.*56T=) c.3884T= (p.Val1295=) c.698T= (p.Val233=) c.3509T= (n.3509T=) c.*1093T= (n.*1093T=) c.3851T= (p.Val1284=) c.3542T= (p.Val1181=) n.4182T= n.3920T= n.3983T= n.539-4751A= n.3546T= c.3716T= (p.Val1239=) c.3920T= (p.Val1307=) n.4128T= n.3865T= n.3928T= | |
16 | g.16155030A>C | CA394876302 | ABCC6 | n.747T>G c.*56T>G (n.*56T>G) c.3884T>G (p.Val1295Gly) c.698T>G (p.Val233Gly) c.3509T>G (n.3509T>G) c.*1093T>G (n.*1093T>G) c.3851T>G (p.Val1284Gly) c.3542T>G (p.Val1181Gly) n.4182T>G n.3920T>G n.3983T>G n.539-4751A>C n.3546T>G c.3716T>G (p.Val1239Gly) c.3920T>G (p.Val1307Gly) n.4128T>G n.3865T>G n.3928T>G | |
16 | g.16155030A>G | CA394876303 | ABCC6 | n.747T>C c.*56T>C (n.*56T>C) c.3884T>C (p.Val1295Ala) c.698T>C (p.Val233Ala) c.3509T>C (n.3509T>C) c.*1093T>C (n.*1093T>C) c.3851T>C (p.Val1284Ala) c.3542T>C (p.Val1181Ala) n.4182T>C n.3920T>C n.3983T>C n.539-4751A>G n.3546T>C c.3716T>C (p.Val1239Ala) c.3920T>C (p.Val1307Ala) n.4128T>C n.3865T>C n.3928T>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.16155030A>T | CA394876305 | ABCC6 | n.747T>A c.*56T>A (n.*56T>A) c.3884T>A (p.Val1295Glu) c.698T>A (p.Val233Glu) c.3509T>A (n.3509T>A) c.*1093T>A (n.*1093T>A) c.3851T>A (p.Val1284Glu) c.3542T>A (p.Val1181Glu) n.4182T>A n.3920T>A n.3983T>A n.539-4751A>T n.3546T>A c.3716T>A (p.Val1239Glu) c.3920T>A (p.Val1307Glu) n.4128T>A n.3865T>A n.3928T>A | gnomAD v4 |
16 | g.16155031C>A | CA394876312 | ABCC6 | n.746G>T c.*55G>T (n.*55G>T) c.3883G>T (p.Val1295Leu) c.697G>T (p.Val233Leu) c.3508G>T (n.3508G>T) c.*1092G>T (n.*1092G>T) c.3850G>T (p.Val1284Leu) c.3541G>T (p.Val1181Leu) n.4181G>T n.3919G>T n.3982G>T n.539-4750C>A n.3545G>T c.3715G>T (p.Val1239Leu) c.3919G>T (p.Val1307Leu) n.4127G>T n.3864G>T n.3927G>T | gnomAD v4 |
16 | g.16155031C= | CA2210141095 | ABCC6 | n.746G= c.*55G= (n.*55G=) c.3883G= (p.Val1295=) c.697G= (p.Val233=) c.3508G= (n.3508G=) c.*1092G= (n.*1092G=) c.3850G= (p.Val1284=) c.3541G= (p.Val1181=) n.4181G= n.3919G= n.3982G= n.539-4750C= n.3545G= c.3715G= (p.Val1239=) c.3919G= (p.Val1307=) n.4127G= n.3864G= n.3927G= | |
16 | g.16155031C>G | CA394876310 | ABCC6 | n.746G>C c.*55G>C (n.*55G>C) c.3883G>C (p.Val1295Leu) c.697G>C (p.Val233Leu) c.3508G>C (n.3508G>C) c.*1092G>C (n.*1092G>C) c.3850G>C (p.Val1284Leu) c.3541G>C (p.Val1181Leu) n.4181G>C n.3919G>C n.3982G>C n.539-4750C>G n.3545G>C c.3715G>C (p.Val1239Leu) c.3919G>C (p.Val1307Leu) n.4127G>C n.3864G>C n.3927G>C | ClinVar dbSNP |
16 | g.16155031C>T | CA7925381 | ABCC6 | n.746G>A c.*55G>A (n.*55G>A) c.3883G>A (p.Val1295Met) c.697G>A (p.Val233Met) c.3508G>A (n.3508G>A) c.*1092G>A (n.*1092G>A) c.3850G>A (p.Val1284Met) c.3541G>A (p.Val1181Met) n.4181G>A n.3919G>A n.3982G>A n.539-4750C>T n.3545G>A c.3715G>A (p.Val1239Met) c.3919G>A (p.Val1307Met) n.4127G>A n.3864G>A n.3927G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.16155032C>A | CA394876313 | ABCC6 | n.745G>T c.*55-1G>T (n.*55-1G>T) c.3883-1G>T (n.3883-1G>T) c.697-1G>T (n.697-1G>T) c.3508-1G>T (n.3508-1G>T) c.*1092-1G>T (n.*1092-1G>T) c.3850-1G>T (n.3850-1G>T) c.3541-1G>T (n.3541-1G>T) n.4181-1G>T n.3919-1G>T n.3982-1G>T n.539-4749C>A n.3545-1G>T c.3715-1G>T (n.3715-1G>T) c.3919-1G>T (n.3919-1G>T) n.4127-1G>T n.3864-1G>T n.3927-1G>T | gnomAD v4 |
16 | g.16155032C>G | CA394876315 | ABCC6 | n.745G>C c.*55-1G>C (n.*55-1G>C) c.3883-1G>C (n.3883-1G>C) c.697-1G>C (n.697-1G>C) c.3508-1G>C (n.3508-1G>C) c.*1092-1G>C (n.*1092-1G>C) c.3850-1G>C (n.3850-1G>C) c.3541-1G>C (n.3541-1G>C) n.4181-1G>C n.3919-1G>C n.3982-1G>C n.539-4749C>G n.3545-1G>C c.3715-1G>C (n.3715-1G>C) c.3919-1G>C (n.3919-1G>C) n.4127-1G>C n.3864-1G>C n.3927-1G>C | |
16 | g.16155032C>T | CA394876314 | ABCC6 | n.745G>A c.*55-1G>A (n.*55-1G>A) c.3883-1G>A (n.3883-1G>A) c.697-1G>A (n.697-1G>A) c.3508-1G>A (n.3508-1G>A) c.*1092-1G>A (n.*1092-1G>A) c.3850-1G>A (n.3850-1G>A) c.3541-1G>A (n.3541-1G>A) n.4181-1G>A n.3919-1G>A n.3982-1G>A n.539-4749C>T n.3545-1G>A c.3715-1G>A (n.3715-1G>A) c.3919-1G>A (n.3919-1G>A) n.4127-1G>A n.3864-1G>A n.3927-1G>A | |
16 | g.16155032_16155033del | CA2580090802 | ABCC6 | n.744_745del c.*55-2_*55-1del (n.*55-2_*55-1del) c.3883-2_3883-1del (n.3883-2_3883-1del) c.697-2_697-1del (n.697-2_697-1del) c.3508-2_3508-1del (n.3508-2_3508-1del) c.*1092-2_*1092-1del (n.*1092-2_*1092-1del) c.3850-2_3850-1del (n.3850-2_3850-1del) c.3541-2_3541-1del (n.3541-2_3541-1del) n.4181-2_4181-1del n.3919-2_3919-1del n.3982-2_3982-1del n.539-4749_539-4748del n.3545-2_3545-1del c.3715-2_3715-1del (n.3715-2_3715-1del) c.3919-2_3919-1del (n.3919-2_3919-1del) n.4127-2_4127-1del n.3864-2_3864-1del n.3927-2_3927-1del | ClinVar |
16 | g.16155033T>A | CA394876316 | ABCC6 | n.744A>T c.*55-2A>T (n.*55-2A>T) c.3883-2A>T (n.3883-2A>T) c.697-2A>T (n.697-2A>T) c.3508-2A>T (n.3508-2A>T) c.*1092-2A>T (n.*1092-2A>T) c.3850-2A>T (n.3850-2A>T) c.3541-2A>T (n.3541-2A>T) n.4181-2A>T n.3919-2A>T n.3982-2A>T n.539-4748T>A n.3545-2A>T c.3715-2A>T (n.3715-2A>T) c.3919-2A>T (n.3919-2A>T) n.4127-2A>T n.3864-2A>T n.3927-2A>T | |
16 | g.16155033T>C | CA394876320 | ABCC6 | n.744A>G c.*55-2A>G (n.*55-2A>G) c.3883-2A>G (n.3883-2A>G) c.697-2A>G (n.697-2A>G) c.3508-2A>G (n.3508-2A>G) c.*1092-2A>G (n.*1092-2A>G) c.3850-2A>G (n.3850-2A>G) c.3541-2A>G (n.3541-2A>G) n.4181-2A>G n.3919-2A>G n.3982-2A>G n.539-4748T>C n.3545-2A>G c.3715-2A>G (n.3715-2A>G) c.3919-2A>G (n.3919-2A>G) n.4127-2A>G n.3864-2A>G n.3927-2A>G | |
16 | g.16155033T>G | CA394876318 | ABCC6 | n.744A>C c.*55-2A>C (n.*55-2A>C) c.3883-2A>C (n.3883-2A>C) c.697-2A>C (n.697-2A>C) c.3508-2A>C (n.3508-2A>C) c.*1092-2A>C (n.*1092-2A>C) c.3850-2A>C (n.3850-2A>C) c.3541-2A>C (n.3541-2A>C) n.4181-2A>C n.3919-2A>C n.3982-2A>C n.539-4748T>G n.3545-2A>C c.3715-2A>C (n.3715-2A>C) c.3919-2A>C (n.3919-2A>C) n.4127-2A>C n.3864-2A>C n.3927-2A>C | |
16 | g.16155034G>A | CA278625622 | ABCC6 | n.743C>T c.*55-3C>T (n.*55-3C>T) c.3883-3C>T (n.3883-3C>T) c.697-3C>T (n.697-3C>T) c.3508-3C>T (n.3508-3C>T) c.*1092-3C>T (n.*1092-3C>T) c.3850-3C>T (n.3850-3C>T) c.3541-3C>T (n.3541-3C>T) n.4181-3C>T n.3919-3C>T n.3982-3C>T n.539-4747G>A n.3545-3C>T c.3715-3C>T (n.3715-3C>T) c.3919-3C>T (n.3919-3C>T) n.4127-3C>T n.3864-3C>T n.3927-3C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.16155034G= | CA2210141096 | ABCC6 | n.743C= c.*55-3C= (n.*55-3C=) c.3883-3C= (n.3883-3C=) c.697-3C= (n.697-3C=) c.3508-3C= (n.3508-3C=) c.*1092-3C= (n.*1092-3C=) c.3850-3C= (n.3850-3C=) c.3541-3C= (n.3541-3C=) n.4181-3C= n.3919-3C= n.3982-3C= n.539-4747G= n.3545-3C= c.3715-3C= (n.3715-3C=) c.3919-3C= (n.3919-3C=) n.4127-3C= n.3864-3C= n.3927-3C= | |
16 | g.16155034G>T | CA2631959352 | ABCC6 | n.743C>A c.*55-3C>A (n.*55-3C>A) c.3883-3C>A (n.3883-3C>A) c.697-3C>A (n.697-3C>A) c.3508-3C>A (n.3508-3C>A) c.*1092-3C>A (n.*1092-3C>A) c.3850-3C>A (n.3850-3C>A) c.3541-3C>A (n.3541-3C>A) n.4181-3C>A n.3919-3C>A n.3982-3C>A n.539-4747G>T n.3545-3C>A c.3715-3C>A (n.3715-3C>A) c.3919-3C>A (n.3919-3C>A) n.4127-3C>A n.3864-3C>A n.3927-3C>A | gnomAD v4 |
16 | g.16155035C>A | CA2631959354 | ABCC6 | n.742G>T c.*55-4G>T (n.*55-4G>T) c.3883-4G>T (n.3883-4G>T) c.697-4G>T (n.697-4G>T) c.3508-4G>T (n.3508-4G>T) c.*1092-4G>T (n.*1092-4G>T) c.3850-4G>T (n.3850-4G>T) c.3541-4G>T (n.3541-4G>T) n.4181-4G>T n.3919-4G>T n.3982-4G>T n.539-4746C>A n.3545-4G>T c.3715-4G>T (n.3715-4G>T) c.3919-4G>T (n.3919-4G>T) n.4127-4G>T n.3864-4G>T n.3927-4G>T | gnomAD v4 |
16 | g.16155035C>T | CA2631959355 | ABCC6 | n.742G>A c.*55-4G>A (n.*55-4G>A) c.3883-4G>A (n.3883-4G>A) c.697-4G>A (n.697-4G>A) c.3508-4G>A (n.3508-4G>A) c.*1092-4G>A (n.*1092-4G>A) c.3850-4G>A (n.3850-4G>A) c.3541-4G>A (n.3541-4G>A) n.4181-4G>A n.3919-4G>A n.3982-4G>A n.539-4746C>T n.3545-4G>A c.3715-4G>A (n.3715-4G>A) c.3919-4G>A (n.3919-4G>A) n.4127-4G>A n.3864-4G>A n.3927-4G>A | gnomAD v4 |
16 | g.16155037del | CA2631959353 | ABCC6 | n.742del c.*55-4del (n.*55-4del) c.3883-4del (n.3883-4del) c.697-4del (n.697-4del) c.3508-4del (n.3508-4del) c.*1092-4del (n.*1092-4del) c.3850-4del (n.3850-4del) c.3541-4del (n.3541-4del) n.4181-4del n.3919-4del n.3982-4del n.539-4744del n.3545-4del c.3715-4del (n.3715-4del) c.3919-4del (n.3919-4del) n.4127-4del n.3864-4del n.3927-4del | gnomAD v4 |
16 | g.16155036C>A | CA2631959356 | ABCC6 | n.741G>T c.*55-5G>T (n.*55-5G>T) c.3883-5G>T (n.3883-5G>T) c.697-5G>T (n.697-5G>T) c.3508-5G>T (n.3508-5G>T) c.*1092-5G>T (n.*1092-5G>T) c.3850-5G>T (n.3850-5G>T) c.3541-5G>T (n.3541-5G>T) n.4181-5G>T n.3919-5G>T n.3982-5G>T n.539-4745C>A n.3545-5G>T c.3715-5G>T (n.3715-5G>T) c.3919-5G>T (n.3919-5G>T) n.4127-5G>T n.3864-5G>T n.3927-5G>T | gnomAD v4 |
16 | g.16155036C= | CA2210141100 | ABCC6 | n.741G= c.*55-5G= (n.*55-5G=) c.3883-5G= (n.3883-5G=) c.697-5G= (n.697-5G=) c.3508-5G= (n.3508-5G=) c.*1092-5G= (n.*1092-5G=) c.3850-5G= (n.3850-5G=) c.3541-5G= (n.3541-5G=) n.4181-5G= n.3919-5G= n.3982-5G= n.539-4745C= n.3545-5G= c.3715-5G= (n.3715-5G=) c.3919-5G= (n.3919-5G=) n.4127-5G= n.3864-5G= n.3927-5G= | |
16 | g.16155036C>T | CA278625624 | ABCC6 | n.741G>A c.*55-5G>A (n.*55-5G>A) c.3883-5G>A (n.3883-5G>A) c.697-5G>A (n.697-5G>A) c.3508-5G>A (n.3508-5G>A) c.*1092-5G>A (n.*1092-5G>A) c.3850-5G>A (n.3850-5G>A) c.3541-5G>A (n.3541-5G>A) n.4181-5G>A n.3919-5G>A n.3982-5G>A n.539-4745C>T n.3545-5G>A c.3715-5G>A (n.3715-5G>A) c.3919-5G>A (n.3919-5G>A) n.4127-5G>A n.3864-5G>A n.3927-5G>A | ClinVar dbSNP gnomAD v4 |
16 | g.16155036_16155037insGTCCGGTCTGAACATTACCAACGGCAAAAAACTCTACCCCGTCAGCGGCATGACCAAAGTCGGCAGCGAAAACTACAAAATCGGCGGCGGCACCACCACAGTCAACAAATACCGTGTCAAGCGCGGCGA | CA2539207707 | ABCC6 | n.740_741insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC c.*55-6_*55-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC (n.*55-6_*55-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC) c.3883-6_3883-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC (n.3883-6_3883-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC) c.697-6_697-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC (n.697-6_697-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC) c.3508-6_3508-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC (n.3508-6_3508-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC) c.*1092-6_*1092-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC (n.*1092-6_*1092-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC) c.3850-6_3850-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC (n.3850-6_3850-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC) c.3541-6_3541-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC (n.3541-6_3541-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC) n.4181-6_4181-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC n.3919-6_3919-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC n.3982-6_3982-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC n.539-4745_539-4744insGTCCGGTCTGAACATTACCAACGGCAAAAAACTCTACCCCGTCAGCGGCATGACCAAAGTCGGCAGCGAAAACTACAAAATCGGCGGCGGCACCACCACAGTCAACAAATACCGTGTCAAGCGCGGCGA n.3545-6_3545-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC c.3715-6_3715-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC (n.3715-6_3715-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC) c.3919-6_3919-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC (n.3919-6_3919-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC) n.4127-6_4127-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC n.3864-6_3864-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC n.3927-6_3927-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC | |
16 | g.16155036_16155037insGTCCGGTCTGAACATTACCAACGGCAAAAAACTCTACCCCGTCAGCGGCATGACCAAAGTCGGCAGCGAAAACTACAAAATCGGCGGCGGTACGACCACCGTCAACAAATACCGCGTCAAACGCGGCGA | CA2503938095 | ABCC6 | n.740_741insTCGCCGCGTTTGACGCGGTATTTGTTGACGGTGGTCGTACCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC c.*55-6_*55-5insTCGCCGCGTTTGACGCGGTATTTGTTGACGGTGGTCGTACCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC (n.*55-6_*55-5insTCGCCGCGTTTGACGCGGTATTTGTTGACGGTGGTCGTACCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC) c.3883-6_3883-5insTCGCCGCGTTTGACGCGGTATTTGTTGACGGTGGTCGTACCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC (n.3883-6_3883-5insTCGCCGCGTTTGACGCGGTATTTGTTGACGGTGGTCGTACCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC) c.697-6_697-5insTCGCCGCGTTTGACGCGGTATTTGTTGACGGTGGTCGTACCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC (n.697-6_697-5insTCGCCGCGTTTGACGCGGTATTTGTTGACGGTGGTCGTACCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC) c.3508-6_3508-5insTCGCCGCGTTTGACGCGGTATTTGTTGACGGTGGTCGTACCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC (n.3508-6_3508-5insTCGCCGCGTTTGACGCGGTATTTGTTGACGGTGGTCGTACCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC) c.*1092-6_*1092-5insTCGCCGCGTTTGACGCGGTATTTGTTGACGGTGGTCGTACCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC (n.*1092-6_*1092-5insTCGCCGCGTTTGACGCGGTATTTGTTGACGGTGGTCGTACCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC) c.3850-6_3850-5insTCGCCGCGTTTGACGCGGTATTTGTTGACGGTGGTCGTACCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC (n.3850-6_3850-5insTCGCCGCGTTTGACGCGGTATTTGTTGACGGTGGTCGTACCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC) c.3541-6_3541-5insTCGCCGCGTTTGACGCGGTATTTGTTGACGGTGGTCGTACCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC (n.3541-6_3541-5insTCGCCGCGTTTGACGCGGTATTTGTTGACGGTGGTCGTACCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC) n.4181-6_4181-5insTCGCCGCGTTTGACGCGGTATTTGTTGACGGTGGTCGTACCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC n.3919-6_3919-5insTCGCCGCGTTTGACGCGGTATTTGTTGACGGTGGTCGTACCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC n.3982-6_3982-5insTCGCCGCGTTTGACGCGGTATTTGTTGACGGTGGTCGTACCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC n.539-4745_539-4744insGTCCGGTCTGAACATTACCAACGGCAAAAAACTCTACCCCGTCAGCGGCATGACCAAAGTCGGCAGCGAAAACTACAAAATCGGCGGCGGTACGACCACCGTCAACAAATACCGCGTCAAACGCGGCGA n.3545-6_3545-5insTCGCCGCGTTTGACGCGGTATTTGTTGACGGTGGTCGTACCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC c.3715-6_3715-5insTCGCCGCGTTTGACGCGGTATTTGTTGACGGTGGTCGTACCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC (n.3715-6_3715-5insTCGCCGCGTTTGACGCGGTATTTGTTGACGGTGGTCGTACCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC) c.3919-6_3919-5insTCGCCGCGTTTGACGCGGTATTTGTTGACGGTGGTCGTACCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC (n.3919-6_3919-5insTCGCCGCGTTTGACGCGGTATTTGTTGACGGTGGTCGTACCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC) n.4127-6_4127-5insTCGCCGCGTTTGACGCGGTATTTGTTGACGGTGGTCGTACCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC n.3864-6_3864-5insTCGCCGCGTTTGACGCGGTATTTGTTGACGGTGGTCGTACCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC n.3927-6_3927-5insTCGCCGCGTTTGACGCGGTATTTGTTGACGGTGGTCGTACCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC | |
16 | g.16155037C>A | CA2631959363 | ABCC6 | n.740G>T c.*55-6G>T (n.*55-6G>T) c.3883-6G>T (n.3883-6G>T) c.697-6G>T (n.697-6G>T) c.3508-6G>T (n.3508-6G>T) c.*1092-6G>T (n.*1092-6G>T) c.3850-6G>T (n.3850-6G>T) c.3541-6G>T (n.3541-6G>T) n.4181-6G>T n.3919-6G>T n.3982-6G>T n.539-4744C>A n.3545-6G>T c.3715-6G>T (n.3715-6G>T) c.3919-6G>T (n.3919-6G>T) n.4127-6G>T n.3864-6G>T n.3927-6G>T | gnomAD v4 |
16 | g.16155037C= | CA2210141106 | ABCC6 | n.740G= c.*55-6G= (n.*55-6G=) c.3883-6G= (n.3883-6G=) c.697-6G= (n.697-6G=) c.3508-6G= (n.3508-6G=) c.*1092-6G= (n.*1092-6G=) c.3850-6G= (n.3850-6G=) c.3541-6G= (n.3541-6G=) n.4181-6G= n.3919-6G= n.3982-6G= n.539-4744C= n.3545-6G= c.3715-6G= (n.3715-6G=) c.3919-6G= (n.3919-6G=) n.4127-6G= n.3864-6G= n.3927-6G= |