| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71444029T>A | CA381696111 | DHCR7 | c.285A>T (p.Lys95Asn) c.111A>T (p.Lys37Asn) n.562A>T c.-301A>T (n.-301A>T) c.189A>T (p.Lys63Asn) | |
| 11 | g.71444029T>C | CA475520175 | DHCR7 | c.285A>G (p.Lys95=) c.111A>G (p.Lys37=) n.562A>G c.-301A>G (n.-301A>G) c.189A>G (p.Lys63=) | |
| 11 | g.71444029T>G | CA381696115 | DHCR7 | c.285A>C (p.Lys95Asn) c.111A>C (p.Lys37Asn) n.562A>C c.-301A>C (n.-301A>C) c.189A>C (p.Lys63Asn) | dbSNP |
| 11 | g.71444029T= | CA1981491027 | DHCR7 | c.285A= (p.Lys95=) c.111A= (p.Lys37=) n.562A= c.-301A= (n.-301A=) c.189A= (p.Lys63=) | |
| 11 | g.71444030T>A | CA381696121 | DHCR7 | c.284A>T (p.Lys95Ile) c.110A>T (p.Lys37Ile) n.561A>T c.-302A>T (n.-302A>T) c.188A>T (p.Lys63Ile) | |
| 11 | g.71444030T>C | CA381696129 | DHCR7 | c.284A>G (p.Lys95Arg) c.110A>G (p.Lys37Arg) n.561A>G c.-302A>G (n.-302A>G) c.188A>G (p.Lys63Arg) | |
| 11 | g.71444030T>G | CA381696125 | DHCR7 | c.284A>C (p.Lys95Thr) c.110A>C (p.Lys37Thr) n.561A>C c.-302A>C (n.-302A>C) c.188A>C (p.Lys63Thr) | |
| 11 | g.71444031T>A | CA381696134 | DHCR7 | c.283A>T (p.Lys95Ter) c.109A>T (p.Lys37Ter) n.560A>T c.-303A>T (n.-303A>T) c.187A>T (p.Lys63Ter) | |
| 11 | g.71444031T>C | CA381696136 | DHCR7 | c.283A>G (p.Lys95Glu) c.109A>G (p.Lys37Glu) n.560A>G c.-303A>G (n.-303A>G) c.187A>G (p.Lys63Glu) | |
| 11 | g.71444031T>G | CA381696138 | DHCR7 | c.283A>C (p.Lys95Gln) c.109A>C (p.Lys37Gln) n.560A>C c.-303A>C (n.-303A>C) c.187A>C (p.Lys63Gln) | |
| 11 | g.71444032C>A | CA381696141 | DHCR7 | c.282G>T (p.Arg94Ser) c.108G>T (p.Arg36Ser) n.559G>T c.-304G>T (n.-304G>T) c.186G>T (p.Arg62Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.71444032C= | CA1981491028 | DHCR7 | c.282G= (p.Arg94=) c.108G= (p.Arg36=) n.559G= c.-304G= (n.-304G=) c.186G= (p.Arg62=) | |
| 11 | g.71444032C>G | CA381696144 | DHCR7 | c.282G>C (p.Arg94Ser) c.108G>C (p.Arg36Ser) n.559G>C c.-304G>C (n.-304G>C) c.186G>C (p.Arg62Ser) | |
| 11 | g.71444032C>T | CA224280804 | DHCR7 | c.282G>A (p.Arg94=) c.108G>A (p.Arg36=) n.559G>A c.-304G>A (n.-304G>A) c.186G>A (p.Arg62=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.71444033C>A | CA381696149 | DHCR7 | c.281G>T (p.Arg94Met) c.107G>T (p.Arg36Met) n.558G>T c.-305G>T (n.-305G>T) c.185G>T (p.Arg62Met) | |
| 11 | g.71444033C>G | CA381696152 | DHCR7 | c.281G>C (p.Arg94Thr) c.107G>C (p.Arg36Thr) n.558G>C c.-305G>C (n.-305G>C) c.185G>C (p.Arg62Thr) | |
| 11 | g.71444033C>T | CA381696154 | DHCR7 | c.281G>A (p.Arg94Lys) c.107G>A (p.Arg36Lys) n.558G>A c.-305G>A (n.-305G>A) c.185G>A (p.Arg62Lys) | |
| 11 | g.71444034T>A | CA381696157 | DHCR7 | c.280A>T (p.Arg94Trp) c.106A>T (p.Arg36Trp) c.106A>T n.557A>T c.-306A>T (n.-306A>T) c.184A>T (p.Arg62Trp) c.220A>T | |
| 11 | g.71444034T>C | CA381696159 | DHCR7 | c.280A>G (p.Arg94Gly) c.106A>G (p.Arg36Gly) c.106A>G n.557A>G c.-306A>G (n.-306A>G) c.184A>G (p.Arg62Gly) c.220A>G | |
| 11 | g.71444034T>G | CA475520201 | DHCR7 | c.280A>C (p.Arg94=) c.106A>C (p.Arg36=) c.106A>C n.557A>C c.-306A>C (n.-306A>C) c.184A>C (p.Arg62=) c.220A>C | |
| 11 | g.71444035C>A | CA475520203 | DHCR7 | c.279G>T (p.Thr93=) c.105G>T (p.Thr35=) n.556G>T c.-307G>T (n.-307G>T) c.183G>T (p.Thr61=) c.219G>T (p.Thr73=) | |
| 11 | g.71444035C= | CA1981491029 | DHCR7 | c.279G= (p.Thr93=) c.105G= (p.Thr35=) n.556G= c.-307G= (n.-307G=) c.183G= (p.Thr61=) c.219G= (p.Thr73=) | |
| 11 | g.71444035C>G | CA475520206 | DHCR7 | c.279G>C (p.Thr93=) c.105G>C (p.Thr35=) n.556G>C c.-307G>C (n.-307G>C) c.183G>C (p.Thr61=) c.219G>C (p.Thr73=) | |
| 11 | g.71444035C>T | CA6162647 | DHCR7 | c.279G>A (p.Thr93=) c.105G>A (p.Thr35=) n.556G>A c.-307G>A (n.-307G>A) c.183G>A (p.Thr61=) c.219G>A (p.Thr73=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.71444036G>A | CA221665 | DHCR7 | c.278C>T (p.Thr93Met) c.104C>T (p.Thr35Met) n.555C>T c.-308C>T (n.-308C>T) c.182C>T (p.Thr61Met) c.218C>T (p.Thr73Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444036G>C | CA381696166 | DHCR7 | c.278C>G (p.Thr93Arg) c.104C>G (p.Thr35Arg) n.555C>G c.-308C>G (n.-308C>G) c.182C>G (p.Thr61Arg) c.218C>G (p.Thr73Arg) | |
| 11 | g.71444036G= | CA1981491030 | DHCR7 | c.278C= (p.Thr93=) c.104C= (p.Thr35=) n.555C= c.-308C= (n.-308C=) c.182C= (p.Thr61=) c.218C= (p.Thr73=) | |
| 11 | g.71444036G>T | CA381696172 | DHCR7 | c.278C>A (p.Thr93Lys) c.104C>A (p.Thr35Lys) n.555C>A c.-308C>A (n.-308C>A) c.182C>A (p.Thr61Lys) c.218C>A (p.Thr73Lys) | ClinVar |
| 11 | g.71444037T>A | CA381696176 | DHCR7 | c.277A>T (p.Thr93Ser) c.103A>T (p.Thr35Ser) n.554A>T c.-309A>T (n.-309A>T) c.181A>T (p.Thr61Ser) c.217A>T (p.Thr73Ser) | |
| 11 | g.71444037T>C | CA381696179 | DHCR7 | c.277A>G (p.Thr93Ala) c.103A>G (p.Thr35Ala) n.554A>G c.-309A>G (n.-309A>G) c.181A>G (p.Thr61Ala) c.217A>G (p.Thr73Ala) | |
| 11 | g.71444037T>G | CA381696182 | DHCR7 | c.277A>C (p.Thr93Pro) c.103A>C (p.Thr35Pro) n.554A>C c.-309A>C (n.-309A>C) c.181A>C (p.Thr61Pro) c.217A>C (p.Thr73Pro) | |
| 11 | g.71444038T>A | CA475520222 | DHCR7 | c.276A>T (p.Ile92=) c.102A>T (p.Ile34=) n.553A>T c.-310A>T (n.-310A>T) c.180A>T (p.Ile60=) c.216A>T (p.Ile72=) | |
| 11 | g.71444038T>C | CA381696196 | DHCR7 | c.276A>G (p.Ile92Met) c.102A>G (p.Ile34Met) n.553A>G c.-310A>G (n.-310A>G) c.180A>G (p.Ile60Met) c.216A>G (p.Ile72Met) | |
| 11 | g.71444038T>G | CA475520225 | DHCR7 | c.276A>C (p.Ile92=) c.102A>C (p.Ile34=) n.553A>C c.-310A>C (n.-310A>C) c.180A>C (p.Ile60=) c.216A>C (p.Ile72=) | |
| 11 | g.71444039A>C | CA381696198 | DHCR7 | c.275T>G (p.Ile92Arg) c.101T>G (p.Ile34Arg) n.552T>G c.-311T>G (n.-311T>G) c.179T>G (p.Ile60Arg) c.215T>G (p.Ile72Arg) | |
| 11 | g.71444039A>G | CA381696201 | DHCR7 | c.275T>C (p.Ile92Thr) c.101T>C (p.Ile34Thr) n.552T>C c.-311T>C (n.-311T>C) c.179T>C (p.Ile60Thr) c.215T>C (p.Ile72Thr) | |
| 11 | g.71444039A>T | CA381696204 | DHCR7 | c.275T>A (p.Ile92Lys) c.101T>A (p.Ile34Lys) n.552T>A c.-311T>A (n.-311T>A) c.179T>A (p.Ile60Lys) c.215T>A (p.Ile72Lys) | gnomAD v4 |
| 11 | g.71444040T>A | CA381696207 | DHCR7 | c.274A>T (p.Ile92Leu) c.100A>T (p.Ile34Leu) n.551A>T c.-312A>T (n.-312A>T) c.178A>T (p.Ile60Leu) c.214A>T (p.Ile72Leu) | |
| 11 | g.71444040T>C | CA381696211 | DHCR7 | c.274A>G (p.Ile92Val) c.100A>G (p.Ile34Val) n.551A>G c.-312A>G (n.-312A>G) c.178A>G (p.Ile60Val) c.214A>G (p.Ile72Val) | gnomAD v4 |
| 11 | g.71444040T>G | CA381696209 | DHCR7 | c.274A>C (p.Ile92Leu) c.100A>C (p.Ile34Leu) n.551A>C c.-312A>C (n.-312A>C) c.178A>C (p.Ile60Leu) c.214A>C (p.Ile72Leu) | |
| 11 | g.71444041A= | CA1981491031 | DHCR7 | c.273T= (p.Pro91=) c.99T= (p.Pro33=) n.550T= c.-313T= (n.-313T=) c.177T= (p.Pro59=) c.213T= (p.Pro71=) | |
| 11 | g.71444041A>C | CA475520240 | DHCR7 | c.273T>G (p.Pro91=) c.99T>G (p.Pro33=) n.550T>G c.-313T>G (n.-313T>G) c.177T>G (p.Pro59=) c.213T>G (p.Pro71=) | |
| 11 | g.71444041A>G | CA6162648 | DHCR7 | c.273T>C (p.Pro91=) c.99T>C (p.Pro33=) n.550T>C c.-313T>C (n.-313T>C) c.177T>C (p.Pro59=) c.213T>C (p.Pro71=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444041A>T | CA475520242 | DHCR7 | c.273T>A (p.Pro91=) c.99T>A (p.Pro33=) n.550T>A c.-313T>A (n.-313T>A) c.177T>A (p.Pro59=) c.213T>A (p.Pro71=) | ClinVar dbSNP |
| 11 | g.71444042G>A | CA381696213 | DHCR7 | c.272C>T (p.Pro91Leu) c.98C>T (p.Pro33Leu) n.549C>T c.-314C>T (n.-314C>T) c.176C>T (p.Pro59Leu) c.212C>T (p.Pro71Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.71444042G>C | CA381696215 | DHCR7 | c.272C>G (p.Pro91Arg) c.98C>G (p.Pro33Arg) n.549C>G c.-314C>G (n.-314C>G) c.176C>G (p.Pro59Arg) c.212C>G (p.Pro71Arg) | |
| 11 | g.71444042G= | CA1981491032 | DHCR7 | c.272C= (p.Pro91=) c.98C= (p.Pro33=) n.549C= c.-314C= (n.-314C=) c.176C= (p.Pro59=) c.212C= (p.Pro71=) | |
| 11 | g.71444042G>T | CA381696216 | DHCR7 | c.272C>A (p.Pro91His) c.98C>A (p.Pro33His) n.549C>A c.-314C>A (n.-314C>A) c.176C>A (p.Pro59His) c.212C>A (p.Pro71His) | |
| 11 | g.71444043G>A | CA381696218 | DHCR7 | c.271C>T (p.Pro91Ser) c.97C>T (p.Pro33Ser) n.548C>T c.-315C>T (n.-315C>T) c.175C>T (p.Pro59Ser) c.211C>T (p.Pro71Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444043G>C | CA381696221 | DHCR7 | c.271C>G (p.Pro91Ala) c.97C>G (p.Pro33Ala) n.548C>G c.-315C>G (n.-315C>G) c.175C>G (p.Pro59Ala) c.211C>G (p.Pro71Ala) |