| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71444063T>A | CA381696312 | DHCR7 | c.251A>T (p.Asp84Val) c.77A>T (p.Asp26Val) n.528A>T c.-333-2A>T (n.-333-2A>T) c.155A>T (p.Asp52Val) c.191A>T (p.Asp64Val) | |
| 11 | g.71444063T>C | CA6162652 | DHCR7 | c.251A>G (p.Asp84Gly) c.77A>G (p.Asp26Gly) n.528A>G c.-333-2A>G (n.-333-2A>G) c.155A>G (p.Asp52Gly) c.191A>G (p.Asp64Gly) | dbSNP ExAC |
| 11 | g.71444063T>G | CA381696314 | DHCR7 | c.251A>C (p.Asp84Ala) c.77A>C (p.Asp26Ala) n.528A>C c.-333-2A>C (n.-333-2A>C) c.155A>C (p.Asp52Ala) c.191A>C (p.Asp64Ala) | |
| 11 | g.71444063T= | CA1981491042 | DHCR7 | c.251A= (p.Asp84=) c.77A= (p.Asp26=) n.528A= c.-333-2A= (n.-333-2A=) c.155A= (p.Asp52=) c.191A= (p.Asp64=) | |
| 11 | g.71444064C>A | CA381696318 | DHCR7 | c.250G>T (p.Asp84Tyr) c.76G>T (p.Asp26Tyr) n.527G>T c.-333-3G>T (n.-333-3G>T) c.154G>T (p.Asp52Tyr) c.190G>T (p.Asp64Tyr) | |
| 11 | g.71444064C>G | CA381696322 | DHCR7 | c.250G>C (p.Asp84His) c.76G>C (p.Asp26His) n.527G>C c.-333-3G>C (n.-333-3G>C) c.154G>C (p.Asp52His) c.190G>C (p.Asp64His) | |
| 11 | g.71444064C>T | CA381696320 | DHCR7 | c.250G>A (p.Asp84Asn) c.76G>A (p.Asp26Asn) n.527G>A c.-333-3G>A (n.-333-3G>A) c.154G>A (p.Asp52Asn) c.190G>A (p.Asp64Asn) | |
| 11 | g.71444065C>A | CA475520395 | DHCR7 | c.249G>T (p.Ser83=) c.75G>T (p.Ser25=) n.526G>T c.-333-4G>T (n.-333-4G>T) c.153G>T (p.Ser51=) c.189G>T (p.Ser63=) | dbSNP |
| 11 | g.71444065C= | CA1981491043 | DHCR7 | c.249G= (p.Ser83=) c.75G= (p.Ser25=) n.526G= c.-333-4G= (n.-333-4G=) c.153G= (p.Ser51=) c.189G= (p.Ser63=) | |
| 11 | g.71444065C>G | CA475520392 | DHCR7 | c.249G>C (p.Ser83=) c.75G>C (p.Ser25=) n.526G>C c.-333-4G>C (n.-333-4G>C) c.153G>C (p.Ser51=) c.189G>C (p.Ser63=) | |
| 11 | g.71444065C>T | CA6162653 | DHCR7 | c.249G>A (p.Ser83=) c.75G>A (p.Ser25=) n.526G>A c.-333-4G>A (n.-333-4G>A) c.153G>A (p.Ser51=) c.189G>A (p.Ser63=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444066G>A | CA6162654 | DHCR7 | c.248C>T (p.Ser83Leu) c.74C>T (p.Ser25Leu) n.525C>T c.-333-5C>T (n.-333-5C>T) c.152C>T (p.Ser51Leu) c.188C>T (p.Ser63Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 11 | g.71444066G>C | CA381696326 | DHCR7 | c.248C>G (p.Ser83Trp) c.74C>G (p.Ser25Trp) n.525C>G c.-333-5C>G (n.-333-5C>G) c.152C>G (p.Ser51Trp) c.188C>G (p.Ser63Trp) | |
| 11 | g.71444066G= | CA1981491044 | DHCR7 | c.248C= (p.Ser83=) c.74C= (p.Ser25=) n.525C= c.-333-5C= (n.-333-5C=) c.152C= (p.Ser51=) c.188C= (p.Ser63=) | |
| 11 | g.71444066G>T | CA381696328 | DHCR7 | c.248C>A (p.Ser83Ter) c.74C>A (p.Ser25Ter) n.525C>A c.-333-5C>A (n.-333-5C>A) c.152C>A (p.Ser51Ter) c.188C>A (p.Ser63Ter) | |
| 11 | g.71444067A>C | CA381696331 | DHCR7 | c.247T>G (p.Ser83Ala) c.73T>G (p.Ser25Ala) n.524T>G c.-333-6T>G (n.-333-6T>G) c.151T>G (p.Ser51Ala) c.187T>G (p.Ser63Ala) | |
| 11 | g.71444067A>G | CA381696333 | DHCR7 | c.247T>C (p.Ser83Pro) c.73T>C (p.Ser25Pro) n.524T>C c.-333-6T>C (n.-333-6T>C) c.151T>C (p.Ser51Pro) c.187T>C (p.Ser63Pro) | |
| 11 | g.71444067A>T | CA381696335 | DHCR7 | c.247T>A (p.Ser83Thr) c.73T>A (p.Ser25Thr) n.524T>A c.-333-6T>A (n.-333-6T>A) c.151T>A (p.Ser51Thr) c.187T>A (p.Ser63Thr) | |
| 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=) |