Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.71444068G>A | CA475520410 | DHCR7 | c.246C>T (p.Leu82=) c.72C>T (p.Leu24=) n.523C>T c.-333-7C>T (n.-333-7C>T) c.150C>T (p.Leu50=) c.186C>T (p.Leu62=) | |
11 | g.71444068G>C | CA475520415 | DHCR7 | c.246C>G (p.Leu82=) c.72C>G (p.Leu24=) n.523C>G c.-333-7C>G (n.-333-7C>G) c.150C>G (p.Leu50=) c.186C>G (p.Leu62=) | ClinVar dbSNP gnomAD v4 |
11 | g.71444068G>T | CA475520412 | DHCR7 | c.246C>A (p.Leu82=) c.72C>A (p.Leu24=) n.523C>A c.-333-7C>A (n.-333-7C>A) c.150C>A (p.Leu50=) c.186C>A (p.Leu62=) | gnomAD v4 |
11 | g.71444069A>C | CA381696339 | DHCR7 | c.245T>G (p.Leu82Arg) c.71T>G (p.Leu24Arg) n.522T>G c.-333-8T>G (n.-333-8T>G) c.149T>G (p.Leu50Arg) c.185T>G (p.Leu62Arg) | |
11 | g.71444069A>G | CA381696341 | DHCR7 | c.245T>C (p.Leu82Pro) c.71T>C (p.Leu24Pro) n.522T>C c.-333-8T>C (n.-333-8T>C) c.149T>C (p.Leu50Pro) c.185T>C (p.Leu62Pro) | |
11 | g.71444069A>T | CA381696343 | DHCR7 | c.245T>A (p.Leu82His) c.71T>A (p.Leu24His) n.522T>A c.-333-8T>A (n.-333-8T>A) c.149T>A (p.Leu50His) c.185T>A (p.Leu62His) | |
11 | g.71444070G>A | CA224280824 | DHCR7 | c.244C>T (p.Leu82Phe) c.70C>T (p.Leu24Phe) n.521C>T c.-333-9C>T (n.-333-9C>T) c.148C>T (p.Leu50Phe) c.184C>T (p.Leu62Phe) | dbSNP |
11 | g.71444070G>C | CA381696347 | DHCR7 | c.244C>G (p.Leu82Val) c.70C>G (p.Leu24Val) n.521C>G c.-333-9C>G (n.-333-9C>G) c.148C>G (p.Leu50Val) c.184C>G (p.Leu62Val) | |
11 | g.71444070G= | CA1981491045 | DHCR7 | c.244C= (p.Leu82=) c.70C= (p.Leu24=) n.521C= c.-333-9C= (n.-333-9C=) c.148C= (p.Leu50=) c.184C= (p.Leu62=) | |
11 | g.71444070G>T | CA381696345 | DHCR7 | c.244C>A (p.Leu82Ile) c.70C>A (p.Leu24Ile) n.521C>A c.-333-9C>A (n.-333-9C>A) c.148C>A (p.Leu50Ile) c.184C>A (p.Leu62Ile) | |
11 | g.71444071C>A | CA475520425 | DHCR7 | c.243G>T (p.Arg81=) c.69G>T (p.Arg23=) n.520G>T c.-333-10G>T (n.-333-10G>T) c.147G>T (p.Arg49=) c.183G>T (p.Arg61=) | gnomAD v4 |
11 | g.71444071C>G | CA475520426 | DHCR7 | c.243G>C (p.Arg81=) c.69G>C (p.Arg23=) n.520G>C c.-333-10G>C (n.-333-10G>C) c.147G>C (p.Arg49=) c.183G>C (p.Arg61=) | |
11 | g.71444071C>T | CA475520429 | DHCR7 | c.243G>A (p.Arg81=) c.69G>A (p.Arg23=) n.520G>A c.-333-10G>A (n.-333-10G>A) c.147G>A (p.Arg49=) c.183G>A (p.Arg61=) | gnomAD v4 |
11 | g.71444072C>A | CA381696351 | DHCR7 | c.242G>T (p.Arg81Leu) c.68G>T (p.Arg23Leu) n.519G>T c.-333-11G>T (n.-333-11G>T) c.146G>T (p.Arg49Leu) c.182G>T (p.Arg61Leu) | gnomAD v4 |
11 | g.71444072C= | CA1981491046 | DHCR7 | c.242G= (p.Arg81=) c.68G= (p.Arg23=) n.519G= c.-333-11G= (n.-333-11G=) c.146G= (p.Arg49=) c.182G= (p.Arg61=) | |
11 | g.71444072C>G | CA381696353 | DHCR7 | c.242G>C (p.Arg81Pro) c.68G>C (p.Arg23Pro) n.519G>C c.-333-11G>C (n.-333-11G>C) c.146G>C (p.Arg49Pro) c.182G>C (p.Arg61Pro) | |
11 | g.71444072C>T | CA6162655 | DHCR7 | c.242G>A (p.Arg81Gln) c.68G>A (p.Arg23Gln) n.519G>A c.-333-11G>A (n.-333-11G>A) c.146G>A (p.Arg49Gln) c.182G>A (p.Arg61Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71444073G>A | CA6162656 | DHCR7 | c.241C>T (p.Arg81Trp) c.67C>T (p.Arg23Trp) n.518C>T c.-333-12C>T (n.-333-12C>T) c.145C>T (p.Arg49Trp) c.181C>T (p.Arg61Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71444073G>C | CA6162657 | DHCR7 | c.241C>G (p.Arg81Gly) c.67C>G (p.Arg23Gly) n.518C>G c.-333-12C>G (n.-333-12C>G) c.145C>G (p.Arg49Gly) c.181C>G (p.Arg61Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71444073G= | CA1981491047 | DHCR7 | c.241C= (p.Arg81=) c.67C= (p.Arg23=) n.518C= c.-333-12C= (n.-333-12C=) c.145C= (p.Arg49=) c.181C= (p.Arg61=) | |
11 | g.71444073G>T | CA475520438 | DHCR7 | c.241C>A (p.Arg81=) c.67C>A (p.Arg23=) n.518C>A c.-333-12C>A (n.-333-12C>A) c.145C>A (p.Arg49=) c.181C>A (p.Arg61=) | |
11 | g.71444074A>C | CA475520447 | DHCR7 | c.240T>G (p.Ala80=) c.66T>G (p.Ala22=) n.517T>G c.-333-13T>G (n.-333-13T>G) c.144T>G (p.Ala48=) c.180T>G (p.Ala60=) | |
11 | g.71444074A>G | CA475520448 | DHCR7 | c.240T>C (p.Ala80=) c.66T>C (p.Ala22=) n.517T>C c.-333-13T>C (n.-333-13T>C) c.144T>C (p.Ala48=) c.180T>C (p.Ala60=) | |
11 | g.71444074A>T | CA475520451 | DHCR7 | c.240T>A (p.Ala80=) c.66T>A (p.Ala22=) n.517T>A c.-333-13T>A (n.-333-13T>A) c.144T>A (p.Ala48=) c.180T>A (p.Ala60=) | |
11 | g.71444075G>A | CA381696356 | DHCR7 | c.239C>T (p.Ala80Val) c.65C>T (p.Ala22Val) n.516C>T c.-333-14C>T (n.-333-14C>T) c.143C>T (p.Ala48Val) c.179C>T (p.Ala60Val) | ClinVar dbSNP COSMIC COSMIC |
11 | g.71444075G>C | CA381696358 | DHCR7 | c.239C>G (p.Ala80Gly) c.65C>G (p.Ala22Gly) n.516C>G c.-333-14C>G (n.-333-14C>G) c.143C>G (p.Ala48Gly) c.179C>G (p.Ala60Gly) | |
11 | g.71444075G= | CA1981491048 | DHCR7 | c.239C= (p.Ala80=) c.65C= (p.Ala22=) n.516C= c.-333-14C= (n.-333-14C=) c.143C= (p.Ala48=) c.179C= (p.Ala60=) | |
11 | g.71444075G>T | CA381696359 | DHCR7 | c.239C>A (p.Ala80Asp) c.65C>A (p.Ala22Asp) n.516C>A c.-333-14C>A (n.-333-14C>A) c.143C>A (p.Ala48Asp) c.179C>A (p.Ala60Asp) | gnomAD v4 |
11 | g.71444076C>A | CA381696362 | DHCR7 | c.238G>T (p.Ala80Ser) c.64G>T (p.Ala22Ser) n.515G>T c.-333-15G>T (n.-333-15G>T) c.142G>T (p.Ala48Ser) c.178G>T (p.Ala60Ser) | |
11 | g.71444076C>G | CA381696364 | DHCR7 | c.238G>C (p.Ala80Pro) c.64G>C (p.Ala22Pro) n.515G>C c.-333-15G>C (n.-333-15G>C) c.142G>C (p.Ala48Pro) c.178G>C (p.Ala60Pro) | |
11 | g.71444076C>T | CA381696366 | DHCR7 | c.238G>A (p.Ala80Thr) c.64G>A (p.Ala22Thr) n.515G>A c.-333-15G>A (n.-333-15G>A) c.142G>A (p.Ala48Thr) c.178G>A (p.Ala60Thr) | |
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) |