UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 3 | g.119807270A>T | CA354055483 | NR1I2 | c.20A>T (p.Glu7Val) c.*43A>T (n.*43A>T) c.137A>T (p.Glu46Val) n.308A>T | |
| 3 | g.119807271A= | CA1396723459 | NR1I2 | c.21A= (p.Glu7=) c.*44A= (n.*44A=) c.138A= (p.Glu46=) n.309A= | |
| 3 | g.119807271A>C | CA354055486 | NR1I2 | c.21A>C (p.Glu7Asp) c.*44A>C (n.*44A>C) c.138A>C (p.Glu46Asp) n.309A>C | |
| 3 | g.119807271A>G | CA435219225 | NR1I2 | c.21A>G (p.Glu7=) c.*44A>G (n.*44A>G) c.138A>G (p.Glu46=) n.309A>G | dbSNP |
| 3 | g.119807271A>T | CA354055487 | NR1I2 | c.21A>T (p.Glu7Asp) c.*44A>T (n.*44A>T) c.138A>T (p.Glu46Asp) n.309A>T | |
| 3 | g.119807272A>C | CA354055489 | NR1I2 | c.22A>C (p.Ser8Arg) c.*45A>C (n.*45A>C) c.139A>C (p.Ser47Arg) n.310A>C | |
| 3 | g.119807272A>G | CA354055490 | NR1I2 | c.22A>G (p.Ser8Gly) c.*45A>G (n.*45A>G) c.139A>G (p.Ser47Gly) n.310A>G | |
| 3 | g.119807272A>T | CA354055492 | NR1I2 | c.22A>T (p.Ser8Cys) c.*45A>T (n.*45A>T) c.139A>T (p.Ser47Cys) n.310A>T | |
| 3 | g.119807273G>A | CA354055494 | NR1I2 | c.23G>A (p.Ser8Asn) c.*46G>A (n.*46G>A) c.140G>A (p.Ser47Asn) n.311G>A | gnomAD v4 |
| 3 | g.119807273G>C | CA2557714 | NR1I2 | c.23G>C (p.Ser8Thr) c.*46G>C (n.*46G>C) c.140G>C (p.Ser47Thr) n.311G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.119807273G= | CA1396723460 | NR1I2 | c.23G= (p.Ser8=) c.*46G= (n.*46G=) c.140G= (p.Ser47=) n.311G= | |
| 3 | g.119807273G>T | CA354055495 | NR1I2 | c.23G>T (p.Ser8Ile) c.*46G>T (n.*46G>T) c.140G>T (p.Ser47Ile) n.311G>T | |
| 3 | g.119807274C>A | CA354055497 | NR1I2 | c.24C>A (p.Ser8Arg) c.*47C>A (n.*47C>A) c.141C>A (p.Ser47Arg) n.312C>A | gnomAD v4 |
| 3 | g.119807274C>G | CA354055499 | NR1I2 | c.24C>G (p.Ser8Arg) c.*47C>G (n.*47C>G) c.141C>G (p.Ser47Arg) n.312C>G | |
| 3 | g.119807274C>T | CA435219243 | NR1I2 | c.24C>T (p.Ser8=) c.*47C>T (n.*47C>T) c.141C>T (p.Ser47=) n.312C>T | |
| 3 | g.119807275T>A | CA354055500 | NR1I2 | c.25T>A (p.Trp9Arg) c.*48T>A (n.*48T>A) c.142T>A (p.Trp48Arg) n.313T>A | |
| 3 | g.119807275T>C | CA354055503 | NR1I2 | c.25T>C (p.Trp9Arg) c.*48T>C (n.*48T>C) c.142T>C (p.Trp48Arg) n.313T>C | gnomAD v4 |
| 3 | g.119807275T>G | CA354055501 | NR1I2 | c.25T>G (p.Trp9Gly) c.*48T>G (n.*48T>G) c.142T>G (p.Trp48Gly) n.313T>G | |
| 3 | g.119807276G>A | CA354055505 | NR1I2 | c.26G>A (p.Trp9Ter) c.*49G>A (n.*49G>A) c.143G>A (p.Trp48Ter) n.314G>A | |
| 3 | g.119807276G>C | CA354055507 | NR1I2 | c.26G>C (p.Trp9Ser) c.*49G>C (n.*49G>C) c.143G>C (p.Trp48Ser) n.314G>C | |
| 3 | g.119807276G>T | CA354055508 | NR1I2 | c.26G>T (p.Trp9Leu) c.*49G>T (n.*49G>T) c.143G>T (p.Trp48Leu) n.314G>T | |
| 3 | g.119807277G>A | CA354055509 | NR1I2 | c.27G>A (p.Trp9Ter) c.*50G>A (n.*50G>A) c.144G>A (p.Trp48Ter) n.315G>A | COSMIC |
| 3 | g.119807277G>C | CA354055511 | NR1I2 | c.27G>C (p.Trp9Cys) c.*50G>C (n.*50G>C) c.144G>C (p.Trp48Cys) n.315G>C | |
| 3 | g.119807277G>T | CA354055513 | NR1I2 | c.27G>T (p.Trp9Cys) c.*50G>T (n.*50G>T) c.144G>T (p.Trp48Cys) n.315G>T | COSMIC |
| 3 | g.119807278A>C | CA354055515 | NR1I2 | c.28A>C (p.Asn10His) c.*51A>C (n.*51A>C) c.145A>C (p.Asn49His) n.316A>C | |
| 3 | g.119807278A>G | CA354055516 | NR1I2 | c.28A>G (p.Asn10Asp) c.*51A>G (n.*51A>G) c.145A>G (p.Asn49Asp) n.316A>G | |
| 3 | g.119807278A>T | CA354055518 | NR1I2 | c.28A>T (p.Asn10Tyr) c.*51A>T (n.*51A>T) c.145A>T (p.Asn49Tyr) n.316A>T | |
| 3 | g.119807279A>C | CA354055522 | NR1I2 | c.29A>C (p.Asn10Thr) c.*52A>C (n.*52A>C) c.146A>C (p.Asn49Thr) n.317A>C | |
| 3 | g.119807279A>G | CA354055523 | NR1I2 | c.29A>G (p.Asn10Ser) c.*52A>G (n.*52A>G) c.146A>G (p.Asn49Ser) n.317A>G | |
| 3 | g.119807279A>T | CA354055520 | NR1I2 | c.29A>T (p.Asn10Ile) c.*52A>T (n.*52A>T) c.146A>T (p.Asn49Ile) n.317A>T | |
| 3 | g.119807280C>A | CA354055526 | NR1I2 | c.30C>A (p.Asn10Lys) c.*53C>A (n.*53C>A) c.147C>A (p.Asn49Lys) n.318C>A | |
| 3 | g.119807280C>G | CA354055527 | NR1I2 | c.30C>G (p.Asn10Lys) c.*53C>G (n.*53C>G) c.147C>G (p.Asn49Lys) n.318C>G | gnomAD v4 |
| 3 | g.119807280C>T | CA435219257 | NR1I2 | c.30C>T (p.Asn10=) c.*53C>T (n.*53C>T) c.147C>T (p.Asn49=) n.318C>T | |
| 3 | g.119807281C>A | CA354055529 | NR1I2 | c.31C>A (p.His11Asn) c.*54C>A (n.*54C>A) c.148C>A (p.His50Asn) n.319C>A | |
| 3 | g.119807281C= | CA1396723461 | NR1I2 | c.31C= (p.His11=) c.*54C= (n.*54C=) c.148C= (p.His50=) n.319C= | |
| 3 | g.119807281C>G | CA354055530 | NR1I2 | c.31C>G (p.His11Asp) c.*54C>G (n.*54C>G) c.148C>G (p.His50Asp) n.319C>G | |
| 3 | g.119807281C>T | CA2557715 | NR1I2 | c.31C>T (p.His11Tyr) c.*54C>T (n.*54C>T) c.148C>T (p.His50Tyr) n.319C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.119807282A= | CA1396723462 | NR1I2 | c.32A= (p.His11=) c.*55A= (n.*55A=) c.149A= (p.His50=) n.320A= | |
| 3 | g.119807282A>C | CA354055535 | NR1I2 | c.32A>C (p.His11Pro) c.*55A>C (n.*55A>C) c.149A>C (p.His50Pro) n.320A>C | |
| 3 | g.119807282A>G | CA2557716 | NR1I2 | c.32A>G (p.His11Arg) c.*55A>G (n.*55A>G) c.149A>G (p.His50Arg) n.320A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.119807282A>T | CA354055533 | NR1I2 | c.32A>T (p.His11Leu) c.*55A>T (n.*55A>T) c.149A>T (p.His50Leu) n.320A>T | COSMIC |
| 3 | g.119807283T>A | CA354055536 | NR1I2 | c.33T>A (p.His11Gln) c.*56T>A (n.*56T>A) c.150T>A (p.His50Gln) n.321T>A | |
| 3 | g.119807283T>C | CA435219268 | NR1I2 | c.33T>C (p.His11=) c.*56T>C (n.*56T>C) c.150T>C (p.His50=) n.321T>C | gnomAD v4 |
| 3 | g.119807283T>G | CA354055538 | NR1I2 | c.33T>G (p.His11Gln) c.*56T>G (n.*56T>G) c.150T>G (p.His50Gln) n.321T>G | |
| 3 | g.119807284G>A | CA2557717 | NR1I2 | c.34G>A (p.Ala12Thr) c.*57G>A (n.*57G>A) c.151G>A (p.Ala51Thr) n.322G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.119807284G>C | CA354055539 | NR1I2 | c.34G>C (p.Ala12Pro) c.*57G>C (n.*57G>C) c.151G>C (p.Ala51Pro) n.322G>C | |
| 3 | g.119807284G= | CA1396723463 | NR1I2 | c.34G= (p.Ala12=) c.*57G= (n.*57G=) c.151G= (p.Ala51=) n.322G= | |
| 3 | g.119807284G>T | CA354055541 | NR1I2 | c.34G>T (p.Ala12Ser) c.*57G>T (n.*57G>T) c.151G>T (p.Ala51Ser) n.322G>T | gnomAD v4 |
| 3 | g.119807285C>A | CA354055543 | NR1I2 | c.35C>A (p.Ala12Asp) c.*58C>A (n.*58C>A) c.152C>A (p.Ala51Asp) n.323C>A | |
| 3 | g.119807285C>G | CA354055546 | NR1I2 | c.35C>G (p.Ala12Gly) c.*58C>G (n.*58C>G) c.152C>G (p.Ala51Gly) n.323C>G | |
| 3 | g.119807285C>T | CA354055545 | NR1I2 | c.35C>T (p.Ala12Val) c.*58C>T (n.*58C>T) c.152C>T (p.Ala51Val) n.323C>T | |
| 3 | g.119807286T>A | CA435219274 | NR1I2 | c.36T>A (p.Ala12=) c.*59T>A (n.*59T>A) c.153T>A (p.Ala51=) n.324T>A | |
| 3 | g.119807286T>C | CA435219275 | NR1I2 | c.36T>C (p.Ala12=) c.*59T>C (n.*59T>C) c.153T>C (p.Ala51=) n.324T>C | |
| 3 | g.119807286T>G | CA435219277 | NR1I2 | c.36T>G (p.Ala12=) c.*59T>G (n.*59T>G) c.153T>G (p.Ala51=) n.324T>G | |
| 3 | g.119807287G>A | CA354055548 | NR1I2 | c.37G>A (p.Asp13Asn) c.*60G>A (n.*60G>A) c.154G>A (p.Asp52Asn) n.325G>A | gnomAD v4 |
| 3 | g.119807287G>C | CA354055550 | NR1I2 | c.37G>C (p.Asp13His) c.*60G>C (n.*60G>C) c.154G>C (p.Asp52His) n.325G>C | |
| 3 | g.119807287G>T | CA354055551 | NR1I2 | c.37G>T (p.Asp13Tyr) c.*60G>T (n.*60G>T) c.154G>T (p.Asp52Tyr) n.325G>T | |
| 3 | g.119807288A>C | CA354055553 | NR1I2 | c.38A>C (p.Asp13Ala) c.*61A>C (n.*61A>C) c.155A>C (p.Asp52Ala) n.326A>C | |
| 3 | g.119807288A>G | CA354055554 | NR1I2 | c.38A>G (p.Asp13Gly) c.*61A>G (n.*61A>G) c.155A>G (p.Asp52Gly) n.326A>G | |
| 3 | g.119807288A>T | CA354055556 | NR1I2 | c.38A>T (p.Asp13Val) c.*61A>T (n.*61A>T) c.155A>T (p.Asp52Val) n.326A>T | |
| 3 | g.119807289C>A | CA354055558 | NR1I2 | c.39C>A (p.Asp13Glu) c.*62C>A (n.*62C>A) c.156C>A (p.Asp52Glu) n.327C>A | |
| 3 | g.119807289C= | CA1396723464 | NR1I2 | c.39C= (p.Asp13=) c.*62C= (n.*62C=) c.156C= (p.Asp52=) n.327C= | |
| 3 | g.119807289C>G | CA354055559 | NR1I2 | c.39C>G (p.Asp13Glu) c.*62C>G (n.*62C>G) c.156C>G (p.Asp52Glu) n.327C>G | |
| 3 | g.119807289C>T | CA435219290 | NR1I2 | c.39C>T (p.Asp13=) c.*62C>T (n.*62C>T) c.156C>T (p.Asp52=) n.327C>T | dbSNP gnomAD v2 |
| 3 | g.119807290T>A | CA354055561 | NR1I2 | c.40T>A (p.Phe14Ile) c.*63T>A (n.*63T>A) c.157T>A (p.Phe53Ile) n.328T>A | |
| 3 | g.119807290T>C | CA354055562 | NR1I2 | c.40T>C (p.Phe14Leu) c.*63T>C (n.*63T>C) c.157T>C (p.Phe53Leu) n.328T>C | |
| 3 | g.119807290T>G | CA354055564 | NR1I2 | c.40T>G (p.Phe14Val) c.*63T>G (n.*63T>G) c.157T>G (p.Phe53Val) n.328T>G | |
| 3 | g.119807291_119807292del | CA2577909394 | NR1I2 | c.41_42del (p.Phe14CysfsTer4) c.*64_*65del (n.*64_*65del) c.158_159del (p.Phe53CysfsTer4) n.329_330del | |
| 3 | g.119807291T>A | CA354055568 | NR1I2 | c.41T>A (p.Phe14Tyr) c.*64T>A (n.*64T>A) c.158T>A (p.Phe53Tyr) n.329T>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.119807291T>C | CA354055569 | NR1I2 | c.41T>C (p.Phe14Ser) c.*64T>C (n.*64T>C) c.158T>C (p.Phe53Ser) n.329T>C | |
| 3 | g.119807291T>G | CA354055566 | NR1I2 | c.41T>G (p.Phe14Cys) c.*64T>G (n.*64T>G) c.158T>G (p.Phe53Cys) n.329T>G | |
| 3 | g.119807291T= | CA1396723465 | NR1I2 | c.41T= (p.Phe14=) c.*64T= (n.*64T=) c.158T= (p.Phe53=) n.329T= | |
| 3 | g.119807292T>A | CA354055573 | NR1I2 | c.42T>A (p.Phe14Leu) c.*65T>A (n.*65T>A) c.159T>A (p.Phe53Leu) n.330T>A | |
| 3 | g.119807292T>C | CA435219301 | NR1I2 | c.42T>C (p.Phe14=) c.*65T>C (n.*65T>C) c.159T>C (p.Phe53=) n.330T>C | |
| 3 | g.119807292T>G | CA354055572 | NR1I2 | c.42T>G (p.Phe14Leu) c.*65T>G (n.*65T>G) c.159T>G (p.Phe53Leu) n.330T>G | |
| 3 | g.119807293G>A | CA354055575 | NR1I2 | c.43G>A (p.Val15Ile) c.*66G>A (n.*66G>A) c.160G>A (p.Val54Ile) n.331G>A | |
| 3 | g.119807293G>C | CA81750753 | NR1I2 | c.43G>C (p.Val15Leu) c.*66G>C (n.*66G>C) c.160G>C (p.Val54Leu) n.331G>C | dbSNP |
| 3 | g.119807293G= | CA1396723466 | NR1I2 | c.43G= (p.Val15=) c.*66G= (n.*66G=) c.160G= (p.Val54=) n.331G= | |
| 3 | g.119807293G>T | CA354055576 | NR1I2 | c.43G>T (p.Val15Leu) c.*66G>T (n.*66G>T) c.160G>T (p.Val54Leu) n.331G>T | |
| 3 | g.119807294T>A | CA354055579 | NR1I2 | c.44T>A (p.Val15Glu) c.*67T>A (n.*67T>A) c.161T>A (p.Val54Glu) n.332T>A | |
| 3 | g.119807294T>C | CA354055580 | NR1I2 | c.44T>C (p.Val15Ala) c.*67T>C (n.*67T>C) c.161T>C (p.Val54Ala) n.332T>C | |
| 3 | g.119807294T>G | CA354055582 | NR1I2 | c.44T>G (p.Val15Gly) c.*67T>G (n.*67T>G) c.161T>G (p.Val54Gly) n.332T>G | |
| 3 | g.119807294_119807296delinsTAC | CA1396723467 | NR1I2 | c.44_46delinsTAC (p.Val15=) c.*67_*69delinsTAC (n.*67_*69delinsTAC) c.161_163delinsTAC (p.Val54=) n.332_334delinsTAC | |
| 3 | g.119807295A>C | CA435219316 | NR1I2 | c.45A>C (p.Val15=) c.*68A>C (n.*68A>C) c.162A>C (p.Val54=) n.333A>C | |
| 3 | g.119807295A>G | CA435219319 | NR1I2 | c.45A>G (p.Val15=) c.*68A>G (n.*68A>G) c.162A>G (p.Val54=) n.333A>G | |
| 3 | g.119807295A>T | CA435219320 | NR1I2 | c.45A>T (p.Val15=) c.*68A>T (n.*68A>T) c.162A>T (p.Val54=) n.333A>T | |
| 3 | g.119807297_119807298del | CA545588573 | NR1I2 | c.47_48del (p.His16LeufsTer2) c.*70_*71del (n.*70_*71del) c.164_165del (p.His55LeufsTer2) n.335_336del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.119807296C>A | CA354055584 | NR1I2 | c.46C>A (p.His16Asn) c.*69C>A (n.*69C>A) c.163C>A (p.His55Asn) n.334C>A | |
| 3 | g.119807296C>G | CA354055586 | NR1I2 | c.46C>G (p.His16Asp) c.*69C>G (n.*69C>G) c.163C>G (p.His55Asp) n.334C>G | |
| 3 | g.119807296C>T | CA354055587 | NR1I2 | c.46C>T (p.His16Tyr) c.*69C>T (n.*69C>T) c.163C>T (p.His55Tyr) n.334C>T | ClinVar |
| 3 | g.119807297A= | CA1396723468 | NR1I2 | c.47A= (p.His16=) c.*70A= (n.*70A=) c.164A= (p.His55=) n.335A= | |
| 3 | g.119807297A>C | CA354055589 | NR1I2 | c.47A>C (p.His16Pro) c.*70A>C (n.*70A>C) c.164A>C (p.His55Pro) n.335A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.119807297A>G | CA354055591 | NR1I2 | c.47A>G (p.His16Arg) c.*70A>G (n.*70A>G) c.164A>G (p.His55Arg) n.335A>G | |
| 3 | g.119807297A>T | CA81750757 | NR1I2 | c.47A>T (p.His16Leu) c.*70A>T (n.*70A>T) c.164A>T (p.His55Leu) n.335A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.119807298del | CA2667141648 | NR1I2 | c.48del (p.Cys17ValfsTer?) c.*71del (n.*71del) c.165del (p.Cys56ValfsTer?) n.336del | gnomAD v4 |
| 3 | g.119807298C>A | CA354055595 | NR1I2 | c.48C>A (p.His16Gln) c.*71C>A (n.*71C>A) c.165C>A (p.His55Gln) n.336C>A | |
| 3 | g.119807298C>G | CA354055593 | NR1I2 | c.48C>G (p.His16Gln) c.*71C>G (n.*71C>G) c.165C>G (p.His55Gln) n.336C>G | |
| 3 | g.119807298C>T | CA435219329 | NR1I2 | c.48C>T (p.His16=) c.*71C>T (n.*71C>T) c.165C>T (p.His55=) n.336C>T | |
| 3 | g.119807299T>A | CA354055597 | NR1I2 | c.49T>A (p.Cys17Ser) c.*72T>A (n.*72T>A) c.166T>A (p.Cys56Ser) n.337T>A | |
| 3 | g.119807299T>C | CA2557718 | NR1I2 | c.49T>C (p.Cys17Arg) c.*72T>C (n.*72T>C) c.166T>C (p.Cys56Arg) n.337T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.119807299T>G | CA354055598 | NR1I2 | c.49T>G (p.Cys17Gly) c.*72T>G (n.*72T>G) c.166T>G (p.Cys56Gly) n.337T>G | |
| 3 | g.119807299T= | CA1396723469 | NR1I2 | c.49T= (p.Cys17=) c.*72T= (n.*72T=) c.166T= (p.Cys56=) n.337T= | |
| 3 | g.119807300G>A | CA354055599 | NR1I2 | c.50G>A (p.Cys17Tyr) c.*73G>A (n.*73G>A) c.167G>A (p.Cys56Tyr) n.338G>A | COSMIC |
| 3 | g.119807300G>C | CA354055600 | NR1I2 | c.50G>C (p.Cys17Ser) c.*73G>C (n.*73G>C) c.167G>C (p.Cys56Ser) n.338G>C | |
| 3 | g.119807300G>T | CA354055602 | NR1I2 | c.50G>T (p.Cys17Phe) c.*73G>T (n.*73G>T) c.167G>T (p.Cys56Phe) n.338G>T | |
| 3 | g.119807301T>A | CA354055604 | NR1I2 | c.51T>A (p.Cys17Ter) c.*74T>A (n.*74T>A) c.168T>A (p.Cys56Ter) n.339T>A | |
| 3 | g.119807301T>C | CA435219338 | NR1I2 | c.51T>C (p.Cys17=) c.*74T>C (n.*74T>C) c.168T>C (p.Cys56=) n.339T>C | |
| 3 | g.119807301T>G | CA2557719 | NR1I2 | c.51T>G (p.Cys17Trp) c.*74T>G (n.*74T>G) c.168T>G (p.Cys56Trp) n.339T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.119807301T= | CA1396723470 | NR1I2 | c.51T= (p.Cys17=) c.*74T= (n.*74T=) c.168T= (p.Cys56=) n.339T= | |
| 3 | g.119807302G>A | CA2557720 | NR1I2 | c.52G>A (p.Glu18Lys) c.*75G>A (n.*75G>A) c.169G>A (p.Glu57Lys) n.340G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.119807302G>C | CA354055607 | NR1I2 | c.52G>C (p.Glu18Gln) c.*75G>C (n.*75G>C) c.169G>C (p.Glu57Gln) n.340G>C | |
| 3 | g.119807302G= | CA1396723471 | NR1I2 | c.52G= (p.Glu18=) c.*75G= (n.*75G=) c.169G= (p.Glu57=) n.340G= | |
| 3 | g.119807302G>T | CA354055609 | NR1I2 | c.52G>T (p.Glu18Ter) c.*75G>T (n.*75G>T) c.169G>T (p.Glu57Ter) n.340G>T | |
| 3 | g.119807303A>C | CA354055610 | NR1I2 | c.53A>C (p.Glu18Ala) c.*76A>C (n.*76A>C) c.170A>C (p.Glu57Ala) n.341A>C | |
| 3 | g.119807303A>G | CA354055612 | NR1I2 | c.53A>G (p.Glu18Gly) c.*76A>G (n.*76A>G) c.170A>G (p.Glu57Gly) n.341A>G | |
| 3 | g.119807303A>T | CA354055614 | NR1I2 | c.53A>T (p.Glu18Val) c.*76A>T (n.*76A>T) c.170A>T (p.Glu57Val) n.341A>T | |
| 3 | g.119807304G>A | CA435219348 | NR1I2 | c.54G>A (p.Glu18=) c.*77G>A (n.*77G>A) c.171G>A (p.Glu57=) n.342G>A | gnomAD v4 |
| 3 | g.119807304G>C | CA354055615 | NR1I2 | c.54G>C (p.Glu18Asp) c.*77G>C (n.*77G>C) c.171G>C (p.Glu57Asp) n.342G>C | |
| 3 | g.119807304G>T | CA354055616 | NR1I2 | c.54G>T (p.Glu18Asp) c.*77G>T (n.*77G>T) c.171G>T (p.Glu57Asp) n.342G>T | |
| 3 | g.119807305G>A | CA354055618 | NR1I2 | c.55G>A (p.Asp19Asn) c.*78G>A (n.*78G>A) c.172G>A (p.Asp58Asn) n.343G>A | |
| 3 | g.119807305G>C | CA354055620 | NR1I2 | c.55G>C (p.Asp19His) c.*78G>C (n.*78G>C) c.172G>C (p.Asp58His) n.343G>C | |
| 3 | g.119807305G>T | CA354055621 | NR1I2 | c.55G>T (p.Asp19Tyr) c.*78G>T (n.*78G>T) c.172G>T (p.Asp58Tyr) n.343G>T | |
| 3 | g.119807306A>C | CA354055622 | NR1I2 | c.56A>C (p.Asp19Ala) c.*79A>C (n.*79A>C) c.173A>C (p.Asp58Ala) n.344A>C | |
| 3 | g.119807306A>G | CA354055624 | NR1I2 | c.56A>G (p.Asp19Gly) c.*79A>G (n.*79A>G) c.173A>G (p.Asp58Gly) n.344A>G | |
| 3 | g.119807306A>T | CA354055626 | NR1I2 | c.56A>T (p.Asp19Val) c.*79A>T (n.*79A>T) c.173A>T (p.Asp58Val) n.344A>T | |
| 3 | g.119807309_119807310del | CA2667141649 | NR1I2 | c.59_60del (p.Thr20ArgfsTer13) c.*82_*83del (n.*82_*83del) c.176_177del (p.Thr59ArgfsTer13) n.347_348del | gnomAD v4 |
| 3 | g.119807307C>A | CA354055628 | NR1I2 | c.57C>A (p.Asp19Glu) c.*80C>A (n.*80C>A) c.174C>A (p.Asp58Glu) n.345C>A | |
| 3 | g.119807307C= | CA1396723472 | NR1I2 | c.57C= (p.Asp19=) c.*80C= (n.*80C=) c.174C= (p.Asp58=) n.345C= | |
| 3 | g.119807307C>G | CA354055627 | NR1I2 | c.57C>G (p.Asp19Glu) c.*80C>G (n.*80C>G) c.174C>G (p.Asp58Glu) n.345C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.119807307C>T | CA435219358 | NR1I2 | c.57C>T (p.Asp19=) c.*80C>T (n.*80C>T) c.174C>T (p.Asp58=) n.345C>T | |
| 3 | g.119807308A= | CA1396723473 | NR1I2 | c.58A= (p.Thr20=) c.*81A= (n.*81A=) c.175A= (p.Thr59=) n.346A= | |
| 3 | g.119807308A>C | CA354055629 | NR1I2 | c.58A>C (p.Thr20Pro) c.*81A>C (n.*81A>C) c.175A>C (p.Thr59Pro) n.346A>C | |
| 3 | g.119807308A>G | CA354055630 | NR1I2 | c.58A>G (p.Thr20Ala) c.*81A>G (n.*81A>G) c.175A>G (p.Thr59Ala) n.346A>G | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.119807308A>T | CA354055632 | NR1I2 | c.58A>T (p.Thr20Ser) c.*81A>T (n.*81A>T) c.175A>T (p.Thr59Ser) n.346A>T | |
| 3 | g.119807309C>A | CA2557721 | NR1I2 | c.59C>A (p.Thr20Lys) c.*82C>A (n.*82C>A) c.176C>A (p.Thr59Lys) n.347C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.119807309C= | CA1396723474 | NR1I2 | c.59C= (p.Thr20=) c.*82C= (n.*82C=) c.176C= (p.Thr59=) n.347C= | |
| 3 | g.119807309C>G | CA354055635 | NR1I2 | c.59C>G (p.Thr20Arg) c.*82C>G (n.*82C>G) c.176C>G (p.Thr59Arg) n.347C>G | |
| 3 | g.119807309C>T | CA354055636 | NR1I2 | c.59C>T (p.Thr20Ile) c.*82C>T (n.*82C>T) c.176C>T (p.Thr59Ile) n.347C>T | gnomAD v4 |
| 3 | g.119807310A= | CA1396723475 | NR1I2 | c.60A= (p.Thr20=) c.*83A= (n.*83A=) c.177A= (p.Thr59=) n.348A= | |
| 3 | g.119807310A>C | CA435219368 | NR1I2 | c.60A>C (p.Thr20=) c.*83A>C (n.*83A>C) c.177A>C (p.Thr59=) n.348A>C | |
| 3 | g.119807310A>G | CA435219371 | NR1I2 | c.60A>G (p.Thr20=) c.*83A>G (n.*83A>G) c.177A>G (p.Thr59=) n.348A>G | dbSNP gnomAD v4 |
| 3 | g.119807310A>T | CA435219370 | NR1I2 | c.60A>T (p.Thr20=) c.*83A>T (n.*83A>T) c.177A>T (p.Thr59=) n.348A>T | |
| 3 | g.119807311G>A | CA354055637 | NR1I2 | c.61G>A (p.Glu21Lys) c.*84G>A (n.*84G>A) c.178G>A (p.Glu60Lys) n.349G>A | gnomAD v4 |
| 3 | g.119807311G>C | CA354055641 | NR1I2 | c.61G>C (p.Glu21Gln) c.*84G>C (n.*84G>C) c.178G>C (p.Glu60Gln) n.349G>C | dbSNP gnomAD v4 |
| 3 | g.119807311G>T | CA354055639 | NR1I2 | c.61G>T (p.Glu21Ter) c.*84G>T (n.*84G>T) c.178G>T (p.Glu60Ter) n.349G>T | |
| 3 | g.119807312A>C | CA354055643 | NR1I2 | c.62A>C (p.Glu21Ala) c.*85A>C (n.*85A>C) c.179A>C (p.Glu60Ala) n.350A>C | |
| 3 | g.119807312A>G | CA354055644 | NR1I2 | c.62A>G (p.Glu21Gly) c.*85A>G (n.*85A>G) c.179A>G (p.Glu60Gly) n.350A>G | |
| 3 | g.119807312A>T | CA354055646 | NR1I2 | c.62A>T (p.Glu21Val) c.*85A>T (n.*85A>T) c.179A>T (p.Glu60Val) n.350A>T | |
| 3 | g.119807313G>A | CA435219378 | NR1I2 | c.63G>A (p.Glu21=) c.*86G>A (n.*86G>A) c.180G>A (p.Glu60=) n.351G>A | |
| 3 | g.119807313G>C | CA354055648 | NR1I2 | c.63G>C (p.Glu21Asp) c.*86G>C (n.*86G>C) c.180G>C (p.Glu60Asp) n.351G>C | |
| 3 | g.119807313G= | CA1396723476 | NR1I2 | c.63G= (p.Glu21=) c.*86G= (n.*86G=) c.180G= (p.Glu60=) n.351G= | |
| 3 | g.119807313G>T | CA354055649 | NR1I2 | c.63G>T (p.Glu21Asp) c.*86G>T (n.*86G>T) c.180G>T (p.Glu60Asp) n.351G>T | dbSNP gnomAD v4 COSMIC |
| 3 | g.119807314T>A | CA354055651 | NR1I2 | c.64T>A (p.Ser22Thr) c.*87T>A (n.*87T>A) c.181T>A (p.Ser61Thr) n.352T>A | |
| 3 | g.119807314T>C | CA354055653 | NR1I2 | c.64T>C (p.Ser22Pro) c.*87T>C (n.*87T>C) c.181T>C (p.Ser61Pro) n.352T>C | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.119807314T>G | CA354055655 | NR1I2 | c.64T>G (p.Ser22Ala) c.*87T>G (n.*87T>G) c.181T>G (p.Ser61Ala) n.352T>G | |
| 3 | g.119807314T= | CA1396723477 | NR1I2 | c.64T= (p.Ser22=) c.*87T= (n.*87T=) c.181T= (p.Ser61=) n.352T= | |
| 3 | g.119807315C>A | CA354055656 | NR1I2 | c.65C>A (p.Ser22Tyr) c.*88C>A (n.*88C>A) c.182C>A (p.Ser61Tyr) n.353C>A | |
| 3 | g.119807315C>G | CA354055658 | NR1I2 | c.65C>G (p.Ser22Cys) c.*88C>G (n.*88C>G) c.182C>G (p.Ser61Cys) n.353C>G | gnomAD v4 COSMIC |
| 3 | g.119807315C>T | CA354055660 | NR1I2 | c.65C>T (p.Ser22Phe) c.*88C>T (n.*88C>T) c.182C>T (p.Ser61Phe) n.353C>T | |
| 3 | g.119807316T>A | CA435219386 | NR1I2 | c.66T>A (p.Ser22=) c.*89T>A (n.*89T>A) c.183T>A (p.Ser61=) n.354T>A | |
| 3 | g.119807316T>C | CA435219387 | NR1I2 | c.66T>C (p.Ser22=) c.*89T>C (n.*89T>C) c.183T>C (p.Ser61=) n.354T>C | dbSNP |
| 3 | g.119807316T>G | CA435219388 | NR1I2 | c.66T>G (p.Ser22=) c.*89T>G (n.*89T>G) c.183T>G (p.Ser61=) n.354T>G | |
| 3 | g.119807316T= | CA1396723478 | NR1I2 | c.66T= (p.Ser22=) c.*89T= (n.*89T=) c.183T= (p.Ser61=) n.354T= | |
| 3 | g.119807317G>A | CA354055664 | NR1I2 | c.67G>A (p.Val23Ile) c.*90G>A (n.*90G>A) c.184G>A (p.Val62Ile) n.355G>A | gnomAD v4 |
| 3 | g.119807317G>C | CA354055663 | NR1I2 | c.67G>C (p.Val23Leu) c.*90G>C (n.*90G>C) c.184G>C (p.Val62Leu) n.355G>C | |
| 3 | g.119807317G= | CA1396723479 | NR1I2 | c.67G= (p.Val23=) c.*90G= (n.*90G=) c.184G= (p.Val62=) n.355G= | |
| 3 | g.119807317G>T | CA354055662 | NR1I2 | c.67G>T (p.Val23Phe) c.*90G>T (n.*90G>T) c.184G>T (p.Val62Phe) n.355G>T | dbSNP |
| 3 | g.119807318T>A | CA354055666 | NR1I2 | c.68T>A (p.Val23Asp) c.*91T>A (n.*91T>A) c.185T>A (p.Val62Asp) n.356T>A | gnomAD v4 |
| 3 | g.119807318T>C | CA354055667 | NR1I2 | c.68T>C (p.Val23Ala) c.*91T>C (n.*91T>C) c.185T>C (p.Val62Ala) n.356T>C | |
| 3 | g.119807318T>G | CA354055668 | NR1I2 | c.68T>G (p.Val23Gly) c.*91T>G (n.*91T>G) c.185T>G (p.Val62Gly) n.356T>G | |
| 3 | g.119807319del | CA2577909396 | NR1I2 | c.69del (p.Pro24LeufsTer?) c.*92del (n.*92del) c.186del (p.Pro63LeufsTer?) n.357del | gnomAD v4 |
| 3 | g.119807319T>A | CA435219395 | NR1I2 | c.69T>A (p.Val23=) c.*92T>A (n.*92T>A) c.186T>A (p.Val62=) n.357T>A | |
| 3 | g.119807319T>C | CA435219393 | NR1I2 | c.69T>C (p.Val23=) c.*92T>C (n.*92T>C) c.186T>C (p.Val62=) n.357T>C | |
| 3 | g.119807319T>G | CA435219391 | NR1I2 | c.69T>G (p.Val23=) c.*92T>G (n.*92T>G) c.186T>G (p.Val62=) n.357T>G | |
| 3 | g.119807320C>A | CA354055670 | NR1I2 | c.70C>A (p.Pro24Thr) c.*93C>A (n.*93C>A) c.187C>A (p.Pro63Thr) n.358C>A | |
| 3 | g.119807320C= | CA1396723480 | NR1I2 | c.70C= (p.Pro24=) c.*93C= (n.*93C=) c.187C= (p.Pro63=) n.358C= | |
| 3 | g.119807320C>G | CA354055671 | NR1I2 | c.70C>G (p.Pro24Ala) c.*93C>G (n.*93C>G) c.187C>G (p.Pro63Ala) n.358C>G | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.119807320C>T | CA354055673 | NR1I2 | c.70C>T (p.Pro24Ser) c.*93C>T (n.*93C>T) c.187C>T (p.Pro63Ser) n.358C>T | dbSNP gnomAD v4 |
| 3 | g.119807321C>A | CA354055675 | NR1I2 | c.71C>A (p.Pro24His) c.*94C>A (n.*94C>A) c.188C>A (p.Pro63His) n.359C>A | |
| 3 | g.119807321C= | CA1396723481 | NR1I2 | c.71C= (p.Pro24=) c.*94C= (n.*94C=) c.188C= (p.Pro63=) n.359C= | |
| 3 | g.119807321C>G | CA354055677 | NR1I2 | c.71C>G (p.Pro24Arg) c.*94C>G (n.*94C>G) c.188C>G (p.Pro63Arg) n.359C>G | |
| 3 | g.119807321C>T | CA354055678 | NR1I2 | c.71C>T (p.Pro24Leu) c.*94C>T (n.*94C>T) c.188C>T (p.Pro63Leu) n.359C>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.119807322T>A | CA435219397 | NR1I2 | c.72T>A (p.Pro24=) c.*95T>A (n.*95T>A) c.189T>A (p.Pro63=) n.360T>A | |
| 3 | g.119807322T>C | CA2557722 | NR1I2 | c.72T>C (p.Pro24=) c.*95T>C (n.*95T>C) c.189T>C (p.Pro63=) n.360T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.119807322T>G | CA435219398 | NR1I2 | c.72T>G (p.Pro24=) c.*95T>G (n.*95T>G) c.189T>G (p.Pro63=) n.360T>G | |
| 3 | g.119807322T= | CA1396723482 | NR1I2 | c.72T= (p.Pro24=) c.*95T= (n.*95T=) c.189T= (p.Pro63=) n.360T= | |
| 3 | g.119807323G>A | CA354055681 | NR1I2 | c.73G>A (p.Gly25Arg) c.*96G>A (n.*96G>A) c.190G>A (p.Gly64Arg) n.361G>A | COSMIC |
| 3 | g.119807323G>C | CA354055683 | NR1I2 | c.73G>C (p.Gly25Arg) c.*96G>C (n.*96G>C) c.190G>C (p.Gly64Arg) n.361G>C | |
| 3 | g.119807323G>T | CA354055684 | NR1I2 | c.73G>T (p.Gly25Ter) c.*96G>T (n.*96G>T) c.190G>T (p.Gly64Ter) n.361G>T | |
| 3 | g.119807324G>A | CA354055690 | NR1I2 | c.74G>A (p.Gly25Glu) c.*97G>A (n.*97G>A) c.191G>A (p.Gly64Glu) n.362G>A | |
| 3 | g.119807324G>C | CA354055688 | NR1I2 | c.74G>C (p.Gly25Ala) c.*97G>C (n.*97G>C) c.191G>C (p.Gly64Ala) n.362G>C | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.119807324G= | CA1396723483 | NR1I2 | c.74G= (p.Gly25=) c.*97G= (n.*97G=) c.191G= (p.Gly64=) n.362G= | |
| 3 | g.119807324G>T | CA354055686 | NR1I2 | c.74G>T (p.Gly25Val) c.*97G>T (n.*97G>T) c.191G>T (p.Gly64Val) n.362G>T | |
| 3 | g.119807325A= | CA1396723484 | NR1I2 | c.75A= (p.Gly25=) c.*98A= (n.*98A=) c.192A= (p.Gly64=) n.363A= | |
| 3 | g.119807325A>C | CA435219403 | NR1I2 | c.75A>C (p.Gly25=) c.*98A>C (n.*98A>C) c.192A>C (p.Gly64=) n.363A>C | |
| 3 | g.119807325A>G | CA435219404 | NR1I2 | c.75A>G (p.Gly25=) c.*98A>G (n.*98A>G) c.192A>G (p.Gly64=) n.363A>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.119807325A>T | CA435219406 | NR1I2 | c.75A>T (p.Gly25=) c.*98A>T (n.*98A>T) c.192A>T (p.Gly64=) n.363A>T | |
| 3 | g.119807326A>C | CA354055691 | NR1I2 | c.76A>C (p.Lys26Gln) c.*99A>C (n.*99A>C) c.193A>C (p.Lys65Gln) n.364A>C | |
| 3 | g.119807326A>G | CA354055692 | NR1I2 | c.76A>G (p.Lys26Glu) c.*99A>G (n.*99A>G) c.193A>G (p.Lys65Glu) n.364A>G | gnomAD v4 |
| 3 | g.119807326A>T | CA354055694 | NR1I2 | c.76A>T (p.Lys26Ter) c.*99A>T (n.*99A>T) c.193A>T (p.Lys65Ter) n.364A>T | gnomAD v4 |
| 3 | g.119807327A>C | CA354055696 | NR1I2 | c.77A>C (p.Lys26Thr) c.*100A>C (n.*100A>C) c.194A>C (p.Lys65Thr) n.365A>C | |
| 3 | g.119807327A>G | CA354055698 | NR1I2 | c.77A>G (p.Lys26Arg) c.*100A>G (n.*100A>G) c.194A>G (p.Lys65Arg) n.365A>G | |
| 3 | g.119807327A>T | CA354055699 | NR1I2 | c.77A>T (p.Lys26Met) c.*100A>T (n.*100A>T) c.194A>T (p.Lys65Met) n.365A>T | |
| 3 | g.119807328G>A | CA435219408 | NR1I2 | c.78G>A (p.Lys26=) c.*101G>A (n.*101G>A) c.195G>A (p.Lys65=) n.366G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.119807328G>C | CA354055701 | NR1I2 | c.78G>C (p.Lys26Asn) c.*101G>C (n.*101G>C) c.195G>C (p.Lys65Asn) n.366G>C | |
| 3 | g.119807328G= | CA1396723485 | NR1I2 | c.78G= (p.Lys26=) c.*101G= (n.*101G=) c.195G= (p.Lys65=) n.366G= | |
| 3 | g.119807328G>T | CA354055702 | NR1I2 | c.78G>T (p.Lys26Asn) c.*101G>T (n.*101G>T) c.195G>T (p.Lys65Asn) n.366G>T | dbSNP gnomAD v4 |
| 3 | g.119807329C>A | CA354055703 | NR1I2 | c.79C>A (p.Pro27Thr) c.*102C>A (n.*102C>A) c.196C>A (p.Pro66Thr) n.367C>A | |
| 3 | g.119807329C= | CA1396723486 | NR1I2 | c.79C= (p.Pro27=) c.*102C= (n.*102C=) c.196C= (p.Pro66=) n.367C= | |
| 3 | g.119807329C>G | CA354055705 | NR1I2 | c.79C>G (p.Pro27Ala) c.*102C>G (n.*102C>G) c.196C>G (p.Pro66Ala) n.367C>G | |
| 3 | g.119807329C>T | CA2557723 | NR1I2 | c.79C>T (p.Pro27Ser) c.*102C>T (n.*102C>T) c.196C>T (p.Pro66Ser) n.367C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.119807330C>A | CA354055708 | NR1I2 | c.80C>A (p.Pro27His) c.*103C>A (n.*103C>A) c.197C>A (p.Pro66His) n.368C>A | |
| 3 | g.119807330C>G | CA354055710 | NR1I2 | c.80C>G (p.Pro27Arg) c.*103C>G (n.*103C>G) c.197C>G (p.Pro66Arg) n.368C>G | |
| 3 | g.119807330C>T | CA354055712 | NR1I2 | c.80C>T (p.Pro27Leu) c.*103C>T (n.*103C>T) c.197C>T (p.Pro66Leu) n.368C>T | |
| 3 | g.119807331C>A | CA435219413 | NR1I2 | c.81C>A (p.Pro27=) c.*104C>A (n.*104C>A) c.198C>A (p.Pro66=) n.369C>A | |
| 3 | g.119807331C>G | CA435219415 | NR1I2 | c.81C>G (p.Pro27=) c.*104C>G (n.*104C>G) c.198C>G (p.Pro66=) n.369C>G | |
| 3 | g.119807331C>T | CA435219416 | NR1I2 | c.81C>T (p.Pro27=) c.*104C>T (n.*104C>T) c.198C>T (p.Pro66=) n.369C>T | |
| 3 | g.119807332A>C | CA354055717 | NR1I2 | c.82A>C (p.Ser28Arg) c.*105A>C (n.*105A>C) c.199A>C (p.Ser67Arg) n.370A>C | |
| 3 | g.119807332A>G | CA354055715 | NR1I2 | c.82A>G (p.Ser28Gly) c.*105A>G (n.*105A>G) c.199A>G (p.Ser67Gly) n.370A>G | |
| 3 | g.119807332A>T | CA354055714 | NR1I2 | c.82A>T (p.Ser28Cys) c.*105A>T (n.*105A>T) c.199A>T (p.Ser67Cys) n.370A>T | |
| 3 | g.119807333G>A | CA354055719 | NR1I2 | c.83G>A (p.Ser28Asn) c.*106G>A (n.*106G>A) c.200G>A (p.Ser67Asn) n.371G>A | dbSNP |
| 3 | g.119807333G>C | CA354055721 | NR1I2 | c.83G>C (p.Ser28Thr) c.*106G>C (n.*106G>C) c.200G>C (p.Ser67Thr) n.371G>C | |
| 3 | g.119807333G= | CA1396723487 | NR1I2 | c.83G= (p.Ser28=) c.*106G= (n.*106G=) c.200G= (p.Ser67=) n.371G= | |
| 3 | g.119807333G>T | CA354055723 | NR1I2 | c.83G>T (p.Ser28Ile) c.*106G>T (n.*106G>T) c.200G>T (p.Ser67Ile) n.371G>T | |
| 3 | g.119807334T>A | CA354055724 | NR1I2 | c.84T>A (p.Ser28Arg) c.*107T>A (n.*107T>A) c.201T>A (p.Ser67Arg) n.372T>A | |
| 3 | g.119807334T>C | CA435219419 | NR1I2 | c.84T>C (p.Ser28=) c.*107T>C (n.*107T>C) c.201T>C (p.Ser67=) n.372T>C | gnomAD v4 |
| 3 | g.119807334T>G | CA354055726 | NR1I2 | c.84T>G (p.Ser28Arg) c.*107T>G (n.*107T>G) c.201T>G (p.Ser67Arg) n.372T>G | |
| 3 | g.119807335G>A | CA2557724 | NR1I2 | c.85G>A (p.Val29Ile) c.*108G>A (n.*108G>A) c.202G>A (p.Val68Ile) n.373G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.119807335G>C | CA354055730 | NR1I2 | c.85G>C (p.Val29Leu) c.*108G>C (n.*108G>C) c.202G>C (p.Val68Leu) n.373G>C | |
| 3 | g.119807335G= | CA1396723488 | NR1I2 | c.85G= (p.Val29=) c.*108G= (n.*108G=) c.202G= (p.Val68=) n.373G= | |
| 3 | g.119807335G>T | CA354055728 | NR1I2 | c.85G>T (p.Val29Phe) c.*108G>T (n.*108G>T) c.202G>T (p.Val68Phe) n.373G>T | |
| 3 | g.119807336T>A | CA2557725 | NR1I2 | c.86T>A (p.Val29Asp) c.*109T>A (n.*109T>A) c.203T>A (p.Val68Asp) n.374T>A | dbSNP ExAC gnomAD v4 |
| 3 | g.119807336T>C | CA354055733 | NR1I2 | c.86T>C (p.Val29Ala) c.*109T>C (n.*109T>C) c.203T>C (p.Val68Ala) n.374T>C | |
| 3 | g.119807336T>G | CA354055735 | NR1I2 | c.86T>G (p.Val29Gly) c.*109T>G (n.*109T>G) c.203T>G (p.Val68Gly) n.374T>G | |
| 3 | g.119807336T= | CA1396723489 | NR1I2 | c.86T= (p.Val29=) c.*109T= (n.*109T=) c.203T= (p.Val68=) n.374T= | |
| 3 | g.119807337C>A | CA435219422 | NR1I2 | c.87C>A (p.Val29=) c.*110C>A (n.*110C>A) c.204C>A (p.Val68=) n.375C>A | |
| 3 | g.119807337C= | CA1396723490 | NR1I2 | c.87C= (p.Val29=) c.*110C= (n.*110C=) c.204C= (p.Val68=) n.375C= | |
| 3 | g.119807337C>G | CA435219423 | NR1I2 | c.87C>G (p.Val29=) c.*110C>G (n.*110C>G) c.204C>G (p.Val68=) n.375C>G | dbSNP |
| 3 | g.119807337C>T | CA435219424 | NR1I2 | c.87C>T (p.Val29=) c.*110C>T (n.*110C>T) c.204C>T (p.Val68=) n.375C>T | gnomAD v4 |
| 3 | g.119807338A>C | CA354055737 | NR1I2 | c.88A>C (p.Asn30His) c.*111A>C (n.*111A>C) c.205A>C (p.Asn69His) n.376A>C | |
| 3 | g.119807338A>G | CA354055739 | NR1I2 | c.88A>G (p.Asn30Asp) c.*111A>G (n.*111A>G) c.205A>G (p.Asn69Asp) n.376A>G | |
| 3 | g.119807338A>T | CA354055741 | NR1I2 | c.88A>T (p.Asn30Tyr) c.*111A>T (n.*111A>T) c.205A>T (p.Asn69Tyr) n.376A>T | |
| 3 | g.119807339A>C | CA354055746 | NR1I2 | c.89A>C (p.Asn30Thr) c.*112A>C (n.*112A>C) c.206A>C (p.Asn69Thr) n.377A>C | |
| 3 | g.119807339A>G | CA354055743 | NR1I2 | c.89A>G (p.Asn30Ser) c.*112A>G (n.*112A>G) c.206A>G (p.Asn69Ser) n.377A>G | |
| 3 | g.119807339A>T | CA354055744 | NR1I2 | c.89A>T (p.Asn30Ile) c.*112A>T (n.*112A>T) c.206A>T (p.Asn69Ile) n.377A>T | |
| 3 | g.119807340C>A | CA354055748 | NR1I2 | c.90C>A (p.Asn30Lys) c.*113C>A (n.*113C>A) c.207C>A (p.Asn69Lys) n.378C>A | |
| 3 | g.119807340C= | CA1396723491 | NR1I2 | c.90C= (p.Asn30=) c.*113C= (n.*113C=) c.207C= (p.Asn69=) n.378C= | |
| 3 | g.119807340C>G | CA354055750 | NR1I2 | c.90C>G (p.Asn30Lys) c.*113C>G (n.*113C>G) c.207C>G (p.Asn69Lys) n.378C>G | |
| 3 | g.119807340C>T | CA2557726 | NR1I2 | c.90C>T (p.Asn30=) c.*113C>T (n.*113C>T) c.207C>T (p.Asn69=) n.378C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.119807341G>A | CA2557727 | NR1I2 | c.91G>A (p.Ala31Thr) c.*114G>A (n.*114G>A) c.208G>A (p.Ala70Thr) n.379G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.119807341G>C | CA354055753 | NR1I2 | c.91G>C (p.Ala31Pro) c.*114G>C (n.*114G>C) c.208G>C (p.Ala70Pro) n.379G>C | |
| 3 | g.119807341G= | CA1396723492 | NR1I2 | c.91G= (p.Ala31=) c.*114G= (n.*114G=) c.208G= (p.Ala70=) n.379G= | |
| 3 | g.119807341G>T | CA354055754 | NR1I2 | c.91G>T (p.Ala31Ser) c.*114G>T (n.*114G>T) c.208G>T (p.Ala70Ser) n.379G>T | |
| 3 | g.119807342C>A | CA354055756 | NR1I2 | c.92C>A (p.Ala31Glu) c.*115C>A (n.*115C>A) c.209C>A (p.Ala70Glu) n.380C>A | |
| 3 | g.119807342C>G | CA354055757 | NR1I2 | c.92C>G (p.Ala31Gly) c.*115C>G (n.*115C>G) c.209C>G (p.Ala70Gly) n.380C>G | |
| 3 | g.119807342C>T | CA354055759 | NR1I2 | c.92C>T (p.Ala31Val) c.*115C>T (n.*115C>T) c.209C>T (p.Ala70Val) n.380C>T | |
| 3 | g.119807343A>C | CA435219430 | NR1I2 | c.93A>C (p.Ala31=) c.*116A>C (n.*116A>C) c.210A>C (p.Ala70=) n.381A>C | |
| 3 | g.119807343A>G | CA435219432 | NR1I2 | c.93A>G (p.Ala31=) c.*116A>G (n.*116A>G) c.210A>G (p.Ala70=) n.381A>G | |
| 3 | g.119807343A>T | CA435219434 | NR1I2 | c.93A>T (p.Ala31=) c.*116A>T (n.*116A>T) c.210A>T (p.Ala70=) n.381A>T | |
| 3 | g.119807344G>A | CA354055761 | NR1I2 | c.94G>A (p.Asp32Asn) c.*117G>A (n.*117G>A) c.211G>A (p.Asp71Asn) n.382G>A | |
| 3 | g.119807344G>C | CA354055762 | NR1I2 | c.94G>C (p.Asp32His) c.*117G>C (n.*117G>C) c.211G>C (p.Asp71His) n.382G>C | |
| 3 | g.119807344G= | CA1396723493 | NR1I2 | c.94G= (p.Asp32=) c.*117G= (n.*117G=) c.211G= (p.Asp71=) n.382G= | |
| 3 | g.119807344G>T | CA2557728 | NR1I2 | c.94G>T (p.Asp32Tyr) c.*117G>T (n.*117G>T) c.211G>T (p.Asp71Tyr) n.382G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.119807345A= | CA1396723494 | NR1I2 | c.95A= (p.Asp32=) c.*118A= (n.*118A=) c.212A= (p.Asp71=) n.383A= | |
| 3 | g.119807345A>C | CA354055764 | NR1I2 | c.95A>C (p.Asp32Ala) c.*118A>C (n.*118A>C) c.212A>C (p.Asp71Ala) n.383A>C | |
| 3 | g.119807345A>G | CA2557729 | NR1I2 | c.95A>G (p.Asp32Gly) c.*118A>G (n.*118A>G) c.212A>G (p.Asp71Gly) n.383A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.119807345A>T | CA354055765 | NR1I2 | c.95A>T (p.Asp32Val) c.*118A>T (n.*118A>T) c.212A>T (p.Asp71Val) n.383A>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.119807346T>A | CA354055767 | NR1I2 | c.96T>A (p.Asp32Glu) c.*119T>A (n.*119T>A) c.213T>A (p.Asp71Glu) n.384T>A | |
| 3 | g.119807346T>C | CA435219439 | NR1I2 | c.96T>C (p.Asp32=) c.*119T>C (n.*119T>C) c.213T>C (p.Asp71=) n.384T>C | |
| 3 | g.119807346T>G | CA354055769 | NR1I2 | c.96T>G (p.Asp32Glu) c.*119T>G (n.*119T>G) c.213T>G (p.Asp71Glu) n.384T>G | |
| 3 | g.119807347G>A | CA2557730 | NR1I2 | c.97G>A (p.Glu33Lys) c.*120G>A (n.*120G>A) c.214G>A (p.Glu72Lys) n.385G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.119807347G>C | CA354055772 | NR1I2 | c.97G>C (p.Glu33Gln) c.*120G>C (n.*120G>C) c.214G>C (p.Glu72Gln) n.385G>C | |
| 3 | g.119807347G= | CA1396723495 | NR1I2 | c.97G= (p.Glu33=) c.*120G= (n.*120G=) c.214G= (p.Glu72=) n.385G= | |
| 3 | g.119807347G>T | CA354055773 | NR1I2 | c.97G>T (p.Glu33Ter) c.*120G>T (n.*120G>T) c.214G>T (p.Glu72Ter) n.385G>T | dbSNP |
| 3 | g.119807348del | CA2667141650 | NR1I2 | c.98del (p.Glu33GlyfsTer24) c.*121del (n.*121del) c.215del (p.Glu72GlyfsTer24) n.386del | gnomAD v4 |
| 3 | g.119807348A>C | CA354055775 | NR1I2 | c.98A>C (p.Glu33Ala) c.*121A>C (n.*121A>C) c.215A>C (p.Glu72Ala) n.386A>C | |
| 3 | g.119807348A>G | CA354055777 | NR1I2 | c.98A>G (p.Glu33Gly) c.*121A>G (n.*121A>G) c.215A>G (p.Glu72Gly) n.386A>G | |
| 3 | g.119807348A>T | CA354055779 | NR1I2 | c.98A>T (p.Glu33Val) c.*121A>T (n.*121A>T) c.215A>T (p.Glu72Val) n.386A>T | |
| 3 | g.119807349G>A | CA435219442 | NR1I2 | c.99G>A (p.Glu33=) c.*122G>A (n.*122G>A) c.216G>A (p.Glu72=) n.387G>A | dbSNP gnomAD v4 |
| 3 | g.119807349G>C | CA354055781 | NR1I2 | c.99G>C (p.Glu33Asp) c.*122G>C (n.*122G>C) c.216G>C (p.Glu72Asp) n.387G>C | |
| 3 | g.119807349G= | CA1396723496 | NR1I2 | c.99G= (p.Glu33=) c.*122G= (n.*122G=) c.216G= (p.Glu72=) n.387G= | |
| 3 | g.119807349G>T | CA354055783 | NR1I2 | c.99G>T (p.Glu33Asp) c.*122G>T (n.*122G>T) c.216G>T (p.Glu72Asp) n.387G>T | |
| 3 | g.119807350dup | CA2667141651 | NR1I2 | c.100dup (p.Glu34GlyfsTer26) c.*123dup (n.*123dup) c.217dup (p.Glu73GlyfsTer26) n.388dup | gnomAD v4 |
| 3 | g.119807350G>A | CA2557731 | NR1I2 | c.100G>A (p.Glu34Lys) c.*123G>A (n.*123G>A) c.217G>A (p.Glu73Lys) n.388G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.119807350G>C | CA354055786 | NR1I2 | c.100G>C (p.Glu34Gln) c.*123G>C (n.*123G>C) c.217G>C (p.Glu73Gln) n.388G>C | |
| 3 | g.119807350G= | CA1396723497 | NR1I2 | c.100G= (p.Glu34=) c.*123G= (n.*123G=) c.217G= (p.Glu73=) n.388G= | |
| 3 | g.119807350G>T | CA354055787 | NR1I2 | c.100G>T (p.Glu34Ter) c.*123G>T (n.*123G>T) c.217G>T (p.Glu73Ter) n.388G>T | |
| 3 | g.119807351A>C | CA354055792 | NR1I2 | c.101A>C (p.Glu34Ala) c.*124A>C (n.*124A>C) c.218A>C (p.Glu73Ala) n.389A>C | |
| 3 | g.119807351A>G | CA354055790 | NR1I2 | c.101A>G (p.Glu34Gly) c.*124A>G (n.*124A>G) c.218A>G (p.Glu73Gly) n.389A>G | |
| 3 | g.119807351A>T | CA354055789 | NR1I2 | c.101A>T (p.Glu34Val) c.*124A>T (n.*124A>T) c.218A>T (p.Glu73Val) n.389A>T | |
| 3 | g.119807352A= | CA1396723498 | NR1I2 | c.102A= (p.Glu34=) c.*125A= (n.*125A=) c.219A= (p.Glu73=) n.390A= | |
| 3 | g.119807352A>C | CA354055794 | NR1I2 | c.102A>C (p.Glu34Asp) c.*125A>C (n.*125A>C) c.219A>C (p.Glu73Asp) n.390A>C | |
| 3 | g.119807352A>G | CA435219448 | NR1I2 | c.102A>G (p.Glu34=) c.*125A>G (n.*125A>G) c.219A>G (p.Glu73=) n.390A>G | |
| 3 | g.119807352A>T | CA2557732 | NR1I2 | c.102A>T (p.Glu34Asp) c.*125A>T (n.*125A>T) c.219A>T (p.Glu73Asp) n.390A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.119807353G>A | CA354055797 | NR1I2 | c.103G>A (p.Val35Ile) c.*126G>A (n.*126G>A) c.220G>A (p.Val74Ile) n.391G>A | |
| 3 | g.119807353G>C | CA354055798 | NR1I2 | c.103G>C (p.Val35Leu) c.*126G>C (n.*126G>C) c.220G>C (p.Val74Leu) n.391G>C | gnomAD v4 |
| 3 | g.119807353G>T | CA354055800 | NR1I2 | c.103G>T (p.Val35Phe) c.*126G>T (n.*126G>T) c.220G>T (p.Val74Phe) n.391G>T | |
| 3 | g.119807354T>A | CA354055802 | NR1I2 | c.104T>A (p.Val35Asp) c.*127T>A (n.*127T>A) c.221T>A (p.Val74Asp) n.392T>A | gnomAD v4 |
| 3 | g.119807354T>C | CA354055804 | NR1I2 | c.104T>C (p.Val35Ala) c.*127T>C (n.*127T>C) c.221T>C (p.Val74Ala) n.392T>C | |
| 3 | g.119807354T>G | CA354055805 | NR1I2 | c.104T>G (p.Val35Gly) c.*127T>G (n.*127T>G) c.221T>G (p.Val74Gly) n.392T>G | |
| 3 | g.119807355C>A | CA435219453 | NR1I2 | c.105C>A (p.Val35=) c.*128C>A (n.*128C>A) c.222C>A (p.Val74=) n.393C>A | |
| 3 | g.119807355C= | CA1396723499 | NR1I2 | c.105C= (p.Val35=) c.*128C= (n.*128C=) c.222C= (p.Val74=) n.393C= | |
| 3 | g.119807355C>G | CA435219455 | NR1I2 | c.105C>G (p.Val35=) c.*128C>G (n.*128C>G) c.222C>G (p.Val74=) n.393C>G | |
| 3 | g.119807355C>T | CA2557733 | NR1I2 | c.105C>T (p.Val35=) c.*128C>T (n.*128C>T) c.222C>T (p.Val74=) n.393C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.119807356G>A | CA2557734 | NR1I2 | c.106G>A (p.Gly36Arg) c.*129G>A (n.*129G>A) c.223G>A (p.Gly75Arg) n.394G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.119807356G>C | CA354055808 | NR1I2 | c.106G>C (p.Gly36Arg) c.*129G>C (n.*129G>C) c.223G>C (p.Gly75Arg) n.394G>C | |
| 3 | g.119807356G= | CA1396723500 | NR1I2 | c.106G= (p.Gly36=) c.*129G= (n.*129G=) c.223G= (p.Gly75=) n.394G= | |
| 3 | g.119807356G>T | CA354055809 | NR1I2 | c.106G>T (p.Gly36Ter) c.*129G>T (n.*129G>T) c.223G>T (p.Gly75Ter) n.394G>T | |
| 3 | g.119807357G>A | CA2557735 | NR1I2 | c.107G>A (p.Gly36Glu) c.*130G>A (n.*130G>A) c.224G>A (p.Gly75Glu) n.395G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.119807357G>C | CA354055813 | NR1I2 | c.107G>C (p.Gly36Ala) c.*130G>C (n.*130G>C) c.224G>C (p.Gly75Ala) n.395G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.119807357G= | CA1396723501 | NR1I2 | c.107G= (p.Gly36=) c.*130G= (n.*130G=) c.224G= (p.Gly75=) n.395G= | |
| 3 | g.119807357G>T | CA354055812 | NR1I2 | c.107G>T (p.Gly36Val) c.*130G>T (n.*130G>T) c.224G>T (p.Gly75Val) n.395G>T | |
| 3 | g.119807358A>C | CA435219458 | NR1I2 | c.108A>C (p.Gly36=) c.*131A>C (n.*131A>C) c.225A>C (p.Gly75=) n.396A>C | |
| 3 | g.119807358A>G | CA435219457 | NR1I2 | c.108A>G (p.Gly36=) c.*131A>G (n.*131A>G) c.225A>G (p.Gly75=) n.396A>G | |
| 3 | g.119807358A>T | CA435219456 | NR1I2 | c.108A>T (p.Gly36=) c.*131A>T (n.*131A>T) c.225A>T (p.Gly75=) n.396A>T | |
| 3 | g.119807359G>A | CA81750853 | NR1I2 | c.109G>A (p.Gly37Ser) c.*132G>A (n.*132G>A) c.226G>A (p.Gly76Ser) n.397G>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.119807359G>C | CA354055817 | NR1I2 | c.109G>C (p.Gly37Arg) c.*132G>C (n.*132G>C) c.226G>C (p.Gly76Arg) n.397G>C | |
| 3 | g.119807359G= | CA1396723502 | NR1I2 | c.109G= (p.Gly37=) c.*132G= (n.*132G=) c.226G= (p.Gly76=) n.397G= | |
| 3 | g.119807359G>T | CA354055818 | NR1I2 | c.109G>T (p.Gly37Cys) c.*132G>T (n.*132G>T) c.226G>T (p.Gly76Cys) n.397G>T | |
| 3 | g.119807360G>A | CA354055820 | NR1I2 | c.110G>A (p.Gly37Asp) c.*133G>A (n.*133G>A) c.227G>A (p.Gly76Asp) n.398G>A | gnomAD v4 COSMIC |
| 3 | g.119807360G>C | CA354055822 | NR1I2 | c.110G>C (p.Gly37Ala) c.*133G>C (n.*133G>C) c.227G>C (p.Gly76Ala) n.398G>C | |
| 3 | g.119807360G>T | CA354055823 | NR1I2 | c.110G>T (p.Gly37Val) c.*133G>T (n.*133G>T) c.227G>T (p.Gly76Val) n.398G>T | COSMIC |
| 3 | g.119807361T>A | CA435219465 | NR1I2 | c.111T>A (p.Gly37=) c.*134T>A (n.*134T>A) c.228T>A (p.Gly76=) n.399T>A | |
| 3 | g.119807361T>C | CA435219467 | NR1I2 | c.111T>C (p.Gly37=) c.*134T>C (n.*134T>C) c.228T>C (p.Gly76=) n.399T>C | |
| 3 | g.119807361T>G | CA435219466 | NR1I2 | c.111T>G (p.Gly37=) c.*134T>G (n.*134T>G) c.228T>G (p.Gly76=) n.399T>G | |
| 3 | g.119807362C>A | CA354055825 | NR1I2 | c.112C>A (p.Pro38Thr) c.*135C>A (n.*135C>A) c.229C>A (p.Pro77Thr) n.400C>A | |
| 3 | g.119807362C>G | CA354055827 | NR1I2 | c.112C>G (p.Pro38Ala) c.*135C>G (n.*135C>G) c.229C>G (p.Pro77Ala) n.400C>G | |
| 3 | g.119807362C>T | CA354055829 | NR1I2 | c.112C>T (p.Pro38Ser) c.*135C>T (n.*135C>T) c.229C>T (p.Pro77Ser) n.400C>T | gnomAD v4 |
| 3 | g.119807365del | CA2667141652 | NR1I2 | c.115del (p.Gln39LysfsTer18) c.*138del (n.*138del) c.232del (p.Gln78LysfsTer18) n.403del | gnomAD v4 |
| 3 | g.119807363C>A | CA354055830 | NR1I2 | c.113C>A (p.Pro38His) c.*136C>A (n.*136C>A) c.230C>A (p.Pro77His) n.401C>A | |
| 3 | g.119807363C>G | CA354055831 | NR1I2 | c.113C>G (p.Pro38Arg) c.*136C>G (n.*136C>G) c.230C>G (p.Pro77Arg) n.401C>G | |
| 3 | g.119807363C>T | CA354055832 | NR1I2 | c.113C>T (p.Pro38Leu) c.*136C>T (n.*136C>T) c.230C>T (p.Pro77Leu) n.401C>T | |
| 3 | g.119807364C>A | CA435219529 | NR1I2 | c.114C>A (p.Pro38=) c.*137C>A (n.*137C>A) c.231C>A (p.Pro77=) n.402C>A | |
| 3 | g.119807364C>G | CA435219530 | NR1I2 | c.114C>G (p.Pro38=) c.*137C>G (n.*137C>G) c.231C>G (p.Pro77=) n.402C>G | gnomAD v4 |
| 3 | g.119807364C>T | CA435219531 | NR1I2 | c.114C>T (p.Pro38=) c.*137C>T (n.*137C>T) c.231C>T (p.Pro77=) n.402C>T | |
| 3 | g.119807365C>A | CA354055835 | NR1I2 | c.115C>A (p.Gln39Lys) c.*138C>A (n.*138C>A) c.232C>A (p.Gln78Lys) n.403C>A | gnomAD v4 |
| 3 | g.119807365C>G | CA354055834 | NR1I2 | c.115C>G (p.Gln39Glu) c.*138C>G (n.*138C>G) c.232C>G (p.Gln78Glu) n.403C>G | |
| 3 | g.119807365C>T | CA354055833 | NR1I2 | c.115C>T (p.Gln39Ter) c.*138C>T (n.*138C>T) c.232C>T (p.Gln78Ter) n.403C>T | |
| 3 | g.119807366A>C | CA354055837 | NR1I2 | c.116A>C (p.Gln39Pro) c.*139A>C (n.*139A>C) c.233A>C (p.Gln78Pro) n.404A>C | |
| 3 | g.119807366A>G | CA354055839 | NR1I2 | c.116A>G (p.Gln39Arg) c.*139A>G (n.*139A>G) c.233A>G (p.Gln78Arg) n.404A>G | |
| 3 | g.119807366A>T | CA354055840 | NR1I2 | c.116A>T (p.Gln39Leu) c.*139A>T (n.*139A>T) c.233A>T (p.Gln78Leu) n.404A>T | |
| 3 | g.119807368del | CA2667141653 | NR1I2 | c.118del (p.Ile40SerfsTer17) c.*141del (n.*141del) c.235del (p.Ile79SerfsTer17) n.406del | gnomAD v4 |