Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.71444077A= | CA1981491049 | DHCR7 | c.237T= (p.His79=) c.63T= (p.His21=) n.514T= c.-333-16T= (n.-333-16T=) c.141T= (p.His47=) c.177T= (p.His59=) | |
11 | g.71444077A>C | CA381696370 | DHCR7 | c.237T>G (p.His79Gln) c.63T>G (p.His21Gln) n.514T>G c.-333-16T>G (n.-333-16T>G) c.141T>G (p.His47Gln) c.177T>G (p.His59Gln) | |
11 | g.71444077A>G | CA475520468 | DHCR7 | c.237T>C (p.His79=) c.63T>C (p.His21=) n.514T>C c.-333-16T>C (n.-333-16T>C) c.141T>C (p.His47=) c.177T>C (p.His59=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.71444077A>T | CA381696368 | DHCR7 | c.237T>A (p.His79Gln) c.63T>A (p.His21Gln) n.514T>A c.-333-16T>A (n.-333-16T>A) c.141T>A (p.His47Gln) c.177T>A (p.His59Gln) | |
11 | g.71444078T>A | CA381696372 | DHCR7 | c.236A>T (p.His79Leu) c.62A>T (p.His21Leu) n.513A>T c.-333-17A>T (n.-333-17A>T) c.140A>T (p.His47Leu) c.176A>T (p.His59Leu) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71444078T>C | CA381696374 | DHCR7 | c.236A>G (p.His79Arg) c.62A>G (p.His21Arg) n.513A>G c.-333-17A>G (n.-333-17A>G) c.140A>G (p.His47Arg) c.176A>G (p.His59Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71444078T>G | CA381696375 | DHCR7 | c.236A>C (p.His79Pro) c.62A>C (p.His21Pro) n.513A>C c.-333-17A>C (n.-333-17A>C) c.140A>C (p.His47Pro) c.176A>C (p.His59Pro) | |
11 | g.71444078T= | CA1981491050 | DHCR7 | c.236A= (p.His79=) c.62A= (p.His21=) n.513A= c.-333-17A= (n.-333-17A=) c.140A= (p.His47=) c.176A= (p.His59=) | |
11 | g.71444079G>A | CA381696378 | DHCR7 | c.235C>T (p.His79Tyr) c.61C>T (p.His21Tyr) n.512C>T c.-333-18C>T (n.-333-18C>T) c.139C>T (p.His47Tyr) c.175C>T (p.His59Tyr) | gnomAD v4 |
11 | g.71444079G>C | CA381696380 | DHCR7 | c.235C>G (p.His79Asp) c.61C>G (p.His21Asp) n.512C>G c.-333-18C>G (n.-333-18C>G) c.139C>G (p.His47Asp) c.175C>G (p.His59Asp) | |
11 | g.71444079G>T | CA381696381 | DHCR7 | c.235C>A (p.His79Asn) c.61C>A (p.His21Asn) n.512C>A c.-333-18C>A (n.-333-18C>A) c.139C>A (p.His47Asn) c.175C>A (p.His59Asn) | |
11 | g.71444080T>A | CA475520487 | DHCR7 | c.234A>T (p.Gly78=) c.60A>T (p.Gly20=) n.511A>T c.-333-19A>T (n.-333-19A>T) c.138A>T (p.Gly46=) c.174A>T (p.Gly58=) | |
11 | g.71444080T>C | CA475520489 | DHCR7 | c.234A>G (p.Gly78=) c.60A>G (p.Gly20=) n.511A>G c.-333-19A>G (n.-333-19A>G) c.138A>G (p.Gly46=) c.174A>G (p.Gly58=) | gnomAD v4 |
11 | g.71444080T>G | CA475520491 | DHCR7 | c.234A>C (p.Gly78=) c.60A>C (p.Gly20=) n.511A>C c.-333-19A>C (n.-333-19A>C) c.138A>C (p.Gly46=) c.174A>C (p.Gly58=) | |
11 | g.71444081C>A | CA381696384 | DHCR7 | c.233G>T (p.Gly78Val) c.59G>T (p.Gly20Val) n.510G>T c.-333-20G>T (n.-333-20G>T) c.137G>T (p.Gly46Val) c.173G>T (p.Gly58Val) | gnomAD v4 |
11 | g.71444081C= | CA1981491051 | DHCR7 | c.233G= (p.Gly78=) c.59G= (p.Gly20=) n.510G= c.-333-20G= (n.-333-20G=) c.137G= (p.Gly46=) c.173G= (p.Gly58=) | |
11 | g.71444081C>G | CA381696386 | DHCR7 | c.233G>C (p.Gly78Ala) c.59G>C (p.Gly20Ala) n.510G>C c.-333-20G>C (n.-333-20G>C) c.137G>C (p.Gly46Ala) c.173G>C (p.Gly58Ala) | gnomAD v4 |
11 | g.71444081C>T | CA381696388 | DHCR7 | c.233G>A (p.Gly78Glu) c.59G>A (p.Gly20Glu) n.510G>A c.-333-20G>A (n.-333-20G>A) c.137G>A (p.Gly46Glu) c.173G>A (p.Gly58Glu) | ClinVar dbSNP |
11 | g.71444082C>A | CA381696390 | DHCR7 | c.232G>T (p.Gly78Ter) c.58G>T (p.Gly20Ter) n.509G>T c.-333-21G>T (n.-333-21G>T) c.136G>T (p.Gly46Ter) c.172G>T (p.Gly58Ter) | |
11 | g.71444082C= | CA1981491052 | DHCR7 | c.232G= (p.Gly78=) c.58G= (p.Gly20=) n.509G= c.-333-21G= (n.-333-21G=) c.136G= (p.Gly46=) c.172G= (p.Gly58=) | |
11 | g.71444082C>G | CA381696393 | DHCR7 | c.232G>C (p.Gly78Arg) c.58G>C (p.Gly20Arg) n.509G>C c.-333-21G>C (n.-333-21G>C) c.136G>C (p.Gly46Arg) c.172G>C (p.Gly58Arg) | gnomAD v4 |
11 | g.71444082C>T | CA6162658 | DHCR7 | c.232G>A (p.Gly78Arg) c.58G>A (p.Gly20Arg) n.509G>A c.-333-21G>A (n.-333-21G>A) c.136G>A (p.Gly46Arg) c.172G>A (p.Gly58Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71444083G>A | CA147245 | DHCR7 | c.231C>T (p.Thr77=) c.57C>T (p.Thr19=) n.508C>T c.-333-22C>T (n.-333-22C>T) c.135C>T (p.Thr45=) c.171C>T (p.Thr57=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71444083G>C | CA475520511 | DHCR7 | c.231C>G (p.Thr77=) c.57C>G (p.Thr19=) n.508C>G c.-333-22C>G (n.-333-22C>G) c.135C>G (p.Thr45=) c.171C>G (p.Thr57=) | ClinVar dbSNP gnomAD v4 |
11 | g.71444083G= | CA1981491053 | DHCR7 | c.231C= (p.Thr77=) c.57C= (p.Thr19=) n.508C= c.-333-22C= (n.-333-22C=) c.135C= (p.Thr45=) c.171C= (p.Thr57=) | |
11 | g.71444083G>T | CA475520507 | DHCR7 | c.231C>A (p.Thr77=) c.57C>A (p.Thr19=) n.508C>A c.-333-22C>A (n.-333-22C>A) c.135C>A (p.Thr45=) c.171C>A (p.Thr57=) | gnomAD v4 |
11 | g.71444084G>A | CA6162659 | DHCR7 | c.230C>T (p.Thr77Ile) c.56C>T (p.Thr19Ile) n.507C>T c.-333-23C>T (n.-333-23C>T) c.134C>T (p.Thr45Ile) c.170C>T (p.Thr57Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71444084G>C | CA381696398 | DHCR7 | c.230C>G (p.Thr77Ser) c.56C>G (p.Thr19Ser) n.507C>G c.-333-23C>G (n.-333-23C>G) c.134C>G (p.Thr45Ser) c.170C>G (p.Thr57Ser) | |
11 | g.71444084G= | CA1981491054 | DHCR7 | c.230C= (p.Thr77=) c.56C= (p.Thr19=) n.507C= c.-333-23C= (n.-333-23C=) c.134C= (p.Thr45=) c.170C= (p.Thr57=) | |
11 | g.71444084G>T | CA381696401 | DHCR7 | c.230C>A (p.Thr77Asn) c.56C>A (p.Thr19Asn) n.507C>A c.-333-23C>A (n.-333-23C>A) c.134C>A (p.Thr45Asn) c.170C>A (p.Thr57Asn) | |
11 | g.71444085T>A | CA381696405 | DHCR7 | c.229A>T (p.Thr77Ser) c.55A>T (p.Thr19Ser) n.506A>T c.-333-24A>T (n.-333-24A>T) c.133A>T (p.Thr45Ser) c.169A>T (p.Thr57Ser) | |
11 | g.71444085T>C | CA381696407 | DHCR7 | c.229A>G (p.Thr77Ala) c.55A>G (p.Thr19Ala) n.506A>G c.-333-24A>G (n.-333-24A>G) c.133A>G (p.Thr45Ala) c.169A>G (p.Thr57Ala) | |
11 | g.71444085T>G | CA381696410 | DHCR7 | c.229A>C (p.Thr77Pro) c.55A>C (p.Thr19Pro) n.506A>C c.-333-24A>C (n.-333-24A>C) c.133A>C (p.Thr45Pro) c.169A>C (p.Thr57Pro) | |
11 | g.71444086G>A | CA475520520 | DHCR7 | c.228C>T (p.Val76=) c.54C>T (p.Val18=) n.505C>T c.-333-25C>T (n.-333-25C>T) c.132C>T (p.Val44=) c.168C>T (p.Val56=) | ClinVar dbSNP |
11 | g.71444086G>C | CA475520521 | DHCR7 | c.228C>G (p.Val76=) c.54C>G (p.Val18=) n.505C>G c.-333-25C>G (n.-333-25C>G) c.132C>G (p.Val44=) c.168C>G (p.Val56=) | |
11 | g.71444086G>T | CA475520522 | DHCR7 | c.228C>A (p.Val76=) c.54C>A (p.Val18=) n.505C>A c.-333-25C>A (n.-333-25C>A) c.132C>A (p.Val44=) c.168C>A (p.Val56=) | |
11 | g.71444087A>C | CA381696412 | DHCR7 | c.227T>G (p.Val76Gly) c.53T>G (p.Val18Gly) n.504T>G c.-333-26T>G (n.-333-26T>G) c.131T>G (p.Val44Gly) c.167T>G (p.Val56Gly) | |
11 | g.71444087A>G | CA381696415 | DHCR7 | c.227T>C (p.Val76Ala) c.53T>C (p.Val18Ala) n.504T>C c.-333-26T>C (n.-333-26T>C) c.131T>C (p.Val44Ala) c.167T>C (p.Val56Ala) | |
11 | g.71444087A>T | CA381696416 | DHCR7 | c.227T>A (p.Val76Asp) c.53T>A (p.Val18Asp) n.504T>A c.-333-26T>A (n.-333-26T>A) c.131T>A (p.Val44Asp) c.167T>A (p.Val56Asp) | |
11 | g.71444088C>A | CA381696418 | DHCR7 | c.226G>T (p.Val76Phe) c.52G>T (p.Val18Phe) n.503G>T c.-333-27G>T (n.-333-27G>T) c.130G>T (p.Val44Phe) c.166G>T (p.Val56Phe) | |
11 | g.71444088C= | CA1981491055 | DHCR7 | c.226G= (p.Val76=) c.52G= (p.Val18=) n.503G= c.-333-27G= (n.-333-27G=) c.130G= (p.Val44=) c.166G= (p.Val56=) | |
11 | g.71444088C>G | CA381696421 | DHCR7 | c.226G>C (p.Val76Leu) c.52G>C (p.Val18Leu) n.503G>C c.-333-27G>C (n.-333-27G>C) c.130G>C (p.Val44Leu) c.166G>C (p.Val56Leu) | |
11 | g.71444088C>T | CA6162660 | DHCR7 | c.226G>A (p.Val76Ile) c.52G>A (p.Val18Ile) n.503G>A c.-333-27G>A (n.-333-27G>A) c.130G>A (p.Val44Ile) c.166G>A (p.Val56Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71444089G>A | CA6162661 | DHCR7 | c.225C>T (p.Ile75=) c.51C>T (p.Ile17=) n.502C>T c.-333-28C>T (n.-333-28C>T) c.129C>T (p.Ile43=) c.165C>T (p.Ile55=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.71444089G>C | CA381696426 | DHCR7 | c.225C>G (p.Ile75Met) c.51C>G (p.Ile17Met) n.502C>G c.-333-28C>G (n.-333-28C>G) c.129C>G (p.Ile43Met) c.165C>G (p.Ile55Met) | |
11 | g.71444089G= | CA1981491056 | DHCR7 | c.225C= (p.Ile75=) c.51C= (p.Ile17=) n.502C= c.-333-28C= (n.-333-28C=) c.129C= (p.Ile43=) c.165C= (p.Ile55=) | |
11 | g.71444089G>T | CA475520523 | DHCR7 | c.225C>A (p.Ile75=) c.51C>A (p.Ile17=) n.502C>A c.-333-28C>A (n.-333-28C>A) c.129C>A (p.Ile43=) c.165C>A (p.Ile55=) | |
11 | g.71444090A>C | CA381696434 | DHCR7 | c.224T>G (p.Ile75Ser) c.50T>G (p.Ile17Ser) n.501T>G c.-333-29T>G (n.-333-29T>G) c.128T>G (p.Ile43Ser) c.164T>G (p.Ile55Ser) | |
11 | g.71444090A>G | CA381696431 | DHCR7 | c.224T>C (p.Ile75Thr) c.50T>C (p.Ile17Thr) n.501T>C c.-333-29T>C (n.-333-29T>C) c.128T>C (p.Ile43Thr) c.164T>C (p.Ile55Thr) | gnomAD v4 |
11 | g.71444090A>T | CA381696429 | DHCR7 | c.224T>A (p.Ile75Asn) c.50T>A (p.Ile17Asn) n.501T>A c.-333-29T>A (n.-333-29T>A) c.128T>A (p.Ile43Asn) c.164T>A (p.Ile55Asn) |