Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.119807256G>A | CA2557712 | NR1I2 | c.6G>A (p.Glu2=) c.*29G>A (n.*29G>A) c.123G>A (p.Glu41=) n.294G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119807256G>C | CA354055426 | NR1I2 | c.6G>C (p.Glu2Asp) c.*29G>C (n.*29G>C) c.123G>C (p.Glu41Asp) n.294G>C | |
3 | g.119807256G= | CA1396723454 | NR1I2 | c.6G= (p.Glu2=) c.*29G= (n.*29G=) c.123G= (p.Glu41=) n.294G= | |
3 | g.119807256G>T | CA354055430 | NR1I2 | c.6G>T (p.Glu2Asp) c.*29G>T (n.*29G>T) c.123G>T (p.Glu41Asp) n.294G>T | gnomAD v4 |
3 | g.119807257G>A | CA354055437 | NR1I2 | c.7G>A (p.Val3Met) c.*30G>A (n.*30G>A) c.124G>A (p.Val42Met) n.295G>A | dbSNP gnomAD v4 |
3 | g.119807257G>C | CA2557713 | NR1I2 | c.7G>C (p.Val3Leu) c.*30G>C (n.*30G>C) c.124G>C (p.Val42Leu) n.295G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119807257G= | CA1396723455 | NR1I2 | c.7G= (p.Val3=) c.*30G= (n.*30G=) c.124G= (p.Val42=) n.295G= | |
3 | g.119807257G>T | CA354055435 | NR1I2 | c.7G>T (p.Val3Leu) c.*30G>T (n.*30G>T) c.124G>T (p.Val42Leu) n.295G>T | gnomAD v4 |
3 | g.119807258T>A | CA354055438 | NR1I2 | c.8T>A (p.Val3Glu) c.*31T>A (n.*31T>A) c.125T>A (p.Val42Glu) n.296T>A | |
3 | g.119807258T>C | CA354055439 | NR1I2 | c.8T>C (p.Val3Ala) c.*31T>C (n.*31T>C) c.125T>C (p.Val42Ala) n.296T>C | |
3 | g.119807258T>G | CA354055440 | NR1I2 | c.8T>G (p.Val3Gly) c.*31T>G (n.*31T>G) c.125T>G (p.Val42Gly) n.296T>G | |
3 | g.119807259G>A | CA435219180 | NR1I2 | c.9G>A (p.Val3=) c.*32G>A (n.*32G>A) c.126G>A (p.Val42=) n.297G>A | gnomAD v4 |
3 | g.119807259G>C | CA435219182 | NR1I2 | c.9G>C (p.Val3=) c.*32G>C (n.*32G>C) c.126G>C (p.Val42=) n.297G>C | |
3 | g.119807259G>T | CA435219185 | NR1I2 | c.9G>T (p.Val3=) c.*32G>T (n.*32G>T) c.126G>T (p.Val42=) n.297G>T | |
3 | g.119807260A>C | CA435219189 | NR1I2 | c.10A>C (p.Arg4=) c.*33A>C (n.*33A>C) c.127A>C (p.Arg43=) n.298A>C | |
3 | g.119807260A>G | CA354055441 | NR1I2 | c.10A>G (p.Arg4Gly) c.*33A>G (n.*33A>G) c.127A>G (p.Arg43Gly) n.298A>G | |
3 | g.119807260A>T | CA354055442 | NR1I2 | c.10A>T (p.Arg4Ter) c.*33A>T (n.*33A>T) c.127A>T (p.Arg43Ter) n.298A>T | |
3 | g.119807261G>A | CA354055445 | NR1I2 | c.11G>A (p.Arg4Lys) c.*34G>A (n.*34G>A) c.128G>A (p.Arg43Lys) n.299G>A | |
3 | g.119807261G>C | CA354055448 | NR1I2 | c.11G>C (p.Arg4Thr) c.*34G>C (n.*34G>C) c.128G>C (p.Arg43Thr) n.299G>C | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119807261G>T | CA354055446 | NR1I2 | c.11G>T (p.Arg4Ile) c.*34G>T (n.*34G>T) c.128G>T (p.Arg43Ile) n.299G>T | |
3 | g.119807262A>C | CA354055450 | NR1I2 | c.12A>C (p.Arg4Ser) c.*35A>C (n.*35A>C) c.129A>C (p.Arg43Ser) n.300A>C | |
3 | g.119807262A>G | CA435219193 | NR1I2 | c.12A>G (p.Arg4=) c.*35A>G (n.*35A>G) c.129A>G (p.Arg43=) n.300A>G | |
3 | g.119807262A>T | CA354055452 | NR1I2 | c.12A>T (p.Arg4Ser) c.*35A>T (n.*35A>T) c.129A>T (p.Arg43Ser) n.300A>T | |
3 | g.119807263C>A | CA354055454 | NR1I2 | c.13C>A (p.Pro5Thr) c.*36C>A (n.*36C>A) c.130C>A (p.Pro44Thr) n.301C>A | |
3 | g.119807263C>G | CA354055455 | NR1I2 | c.13C>G (p.Pro5Ala) c.*36C>G (n.*36C>G) c.130C>G (p.Pro44Ala) n.301C>G | gnomAD v4 |
3 | g.119807263C>T | CA354055457 | NR1I2 | c.13C>T (p.Pro5Ser) c.*36C>T (n.*36C>T) c.130C>T (p.Pro44Ser) n.301C>T | |
3 | g.119807264C>A | CA354055459 | NR1I2 | c.14C>A (p.Pro5His) c.*37C>A (n.*37C>A) c.131C>A (p.Pro44His) n.302C>A | |
3 | g.119807264C>G | CA354055460 | NR1I2 | c.14C>G (p.Pro5Arg) c.*37C>G (n.*37C>G) c.131C>G (p.Pro44Arg) n.302C>G | |
3 | g.119807264C>T | CA354055462 | NR1I2 | c.14C>T (p.Pro5Leu) c.*37C>T (n.*37C>T) c.131C>T (p.Pro44Leu) n.302C>T | |
3 | g.119807265C>A | CA435219204 | NR1I2 | c.15C>A (p.Pro5=) c.*38C>A (n.*38C>A) c.132C>A (p.Pro44=) n.303C>A | |
3 | g.119807265C= | CA1396723456 | NR1I2 | c.15C= (p.Pro5=) c.*38C= (n.*38C=) c.132C= (p.Pro44=) n.303C= | |
3 | g.119807265C>G | CA435219206 | NR1I2 | c.15C>G (p.Pro5=) c.*38C>G (n.*38C>G) c.132C>G (p.Pro44=) n.303C>G | |
3 | g.119807265C>T | CA81750736 | NR1I2 | c.15C>T (p.Pro5=) c.*38C>T (n.*38C>T) c.132C>T (p.Pro44=) n.303C>T | dbSNP gnomAD v4 |
3 | g.119807266A= | CA1396723457 | NR1I2 | c.16A= (p.Lys6=) c.*39A= (n.*39A=) c.133A= (p.Lys45=) n.304A= | |
3 | g.119807266A>C | CA354055463 | NR1I2 | c.16A>C (p.Lys6Gln) c.*39A>C (n.*39A>C) c.133A>C (p.Lys45Gln) n.304A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119807266A>G | CA354055465 | NR1I2 | c.16A>G (p.Lys6Glu) c.*39A>G (n.*39A>G) c.133A>G (p.Lys45Glu) n.304A>G | |
3 | g.119807266A>T | CA354055466 | NR1I2 | c.16A>T (p.Lys6Ter) c.*39A>T (n.*39A>T) c.133A>T (p.Lys45Ter) n.304A>T | |
3 | g.119807267A>C | CA354055468 | NR1I2 | c.17A>C (p.Lys6Thr) c.*40A>C (n.*40A>C) c.134A>C (p.Lys45Thr) n.305A>C | |
3 | g.119807267A>G | CA354055471 | NR1I2 | c.17A>G (p.Lys6Arg) c.*40A>G (n.*40A>G) c.134A>G (p.Lys45Arg) n.305A>G | |
3 | g.119807267A>T | CA354055469 | NR1I2 | c.17A>T (p.Lys6Ile) c.*40A>T (n.*40A>T) c.134A>T (p.Lys45Ile) n.305A>T | |
3 | g.119807268A>C | CA354055472 | NR1I2 | c.18A>C (p.Lys6Asn) c.*41A>C (n.*41A>C) c.135A>C (p.Lys45Asn) n.306A>C | |
3 | g.119807268A>G | CA435219216 | NR1I2 | c.18A>G (p.Lys6=) c.*41A>G (n.*41A>G) c.135A>G (p.Lys45=) n.306A>G | |
3 | g.119807268A>T | CA354055474 | NR1I2 | c.18A>T (p.Lys6Asn) c.*41A>T (n.*41A>T) c.135A>T (p.Lys45Asn) n.306A>T | |
3 | g.119807268_119807269delinsAG | CA1396723458 | NR1I2 | c.18_19delinsAG (p.Lys6=) c.*41_*42delinsAG (n.*41_*42delinsAG) c.135_136delinsAG (p.Lys45=) n.306_307delinsAG | |
3 | g.119807269del | CA81750744 | NR1I2 | c.19del (p.Glu7LysfsTer?) c.*42del (n.*42del) c.136del (p.Glu46LysfsTer?) n.307del | dbSNP gnomAD v4 |
3 | g.119807269G>A | CA354055476 | NR1I2 | c.19G>A (p.Glu7Lys) c.*42G>A (n.*42G>A) c.136G>A (p.Glu46Lys) n.307G>A | |
3 | g.119807269G>C | CA354055478 | NR1I2 | c.19G>C (p.Glu7Gln) c.*42G>C (n.*42G>C) c.136G>C (p.Glu46Gln) n.307G>C | |
3 | g.119807269G>T | CA354055480 | NR1I2 | c.19G>T (p.Glu7Ter) c.*42G>T (n.*42G>T) c.136G>T (p.Glu46Ter) n.307G>T | |
3 | g.119807270A>C | CA354055484 | NR1I2 | c.20A>C (p.Glu7Ala) c.*43A>C (n.*43A>C) c.137A>C (p.Glu46Ala) n.308A>C | |
3 | g.119807270A>G | CA354055482 | NR1I2 | c.20A>G (p.Glu7Gly) c.*43A>G (n.*43A>G) c.137A>G (p.Glu46Gly) n.308A>G |