| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 11 | g.71444091T>A | CA245187 | DHCR7 | c.223A>T (p.Ile75Phe) c.49A>T (p.Ile17Phe) n.500A>T c.-333-30A>T (n.-333-30A>T) c.127A>T (p.Ile43Phe) c.163A>T (p.Ile55Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444091T>C | CA381696438 | DHCR7 | c.223A>G (p.Ile75Val) c.49A>G (p.Ile17Val) n.500A>G c.-333-30A>G (n.-333-30A>G) c.127A>G (p.Ile43Val) c.163A>G (p.Ile55Val) | gnomAD v4 |
| 11 | g.71444091T>G | CA381696437 | DHCR7 | c.223A>C (p.Ile75Leu) c.49A>C (p.Ile17Leu) n.500A>C c.-333-30A>C (n.-333-30A>C) c.127A>C (p.Ile43Leu) c.163A>C (p.Ile55Leu) | gnomAD v4 |
| 11 | g.71444091T= | CA1981491057 | DHCR7 | c.223A= (p.Ile75=) c.49A= (p.Ile17=) n.500A= c.-333-30A= (n.-333-30A=) c.127A= (p.Ile43=) c.163A= (p.Ile55=) | |
| 11 | g.71444092G>A | CA6162662 | DHCR7 | c.222C>T (p.Asp74=) c.48C>T (p.Asp16=) n.499C>T c.-333-31C>T (n.-333-31C>T) c.126C>T (p.Asp42=) c.162C>T (p.Asp54=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444092G>C | CA6162663 | DHCR7 | c.222C>G (p.Asp74Glu) c.48C>G (p.Asp16Glu) n.499C>G c.-333-31C>G (n.-333-31C>G) c.126C>G (p.Asp42Glu) c.162C>G (p.Asp54Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444092G= | CA1981491058 | DHCR7 | c.222C= (p.Asp74=) c.48C= (p.Asp16=) n.499C= c.-333-31C= (n.-333-31C=) c.126C= (p.Asp42=) c.162C= (p.Asp54=) | |
| 11 | g.71444092G>T | CA381696442 | DHCR7 | c.222C>A (p.Asp74Glu) c.48C>A (p.Asp16Glu) n.499C>A c.-333-31C>A (n.-333-31C>A) c.126C>A (p.Asp42Glu) c.162C>A (p.Asp54Glu) | |
| 11 | g.71444093T>A | CA381696445 | DHCR7 | c.221A>T (p.Asp74Val) c.47A>T (p.Asp16Val) n.498A>T c.-333-32A>T (n.-333-32A>T) c.125A>T (p.Asp42Val) c.161A>T (p.Asp54Val) | |
| 11 | g.71444093T>C | CA381696447 | DHCR7 | c.221A>G (p.Asp74Gly) c.47A>G (p.Asp16Gly) n.498A>G c.-333-32A>G (n.-333-32A>G) c.125A>G (p.Asp42Gly) c.161A>G (p.Asp54Gly) | gnomAD v4 |
| 11 | g.71444093T>G | CA224280849 | DHCR7 | c.221A>C (p.Asp74Ala) c.47A>C (p.Asp16Ala) n.498A>C c.-333-32A>C (n.-333-32A>C) c.125A>C (p.Asp42Ala) c.161A>C (p.Asp54Ala) | dbSNP |
| 11 | g.71444093T= | CA1981491059 | DHCR7 | c.221A= (p.Asp74=) c.47A= (p.Asp16=) n.498A= c.-333-32A= (n.-333-32A=) c.125A= (p.Asp42=) c.161A= (p.Asp54=) | |
| 11 | g.71444094C>A | CA381696449 | DHCR7 | c.220G>T (p.Asp74Tyr) c.46G>T (p.Asp16Tyr) n.497G>T c.-333-33G>T (n.-333-33G>T) c.124G>T (p.Asp42Tyr) c.160G>T (p.Asp54Tyr) | |
| 11 | g.71444094C= | CA1981491060 | DHCR7 | c.220G= (p.Asp74=) c.46G= (p.Asp16=) n.497G= c.-333-33G= (n.-333-33G=) c.124G= (p.Asp42=) c.160G= (p.Asp54=) | |
| 11 | g.71444094C>G | CA381696450 | DHCR7 | c.220G>C (p.Asp74His) c.46G>C (p.Asp16His) n.497G>C c.-333-33G>C (n.-333-33G>C) c.124G>C (p.Asp42His) c.160G>C (p.Asp54His) | |
| 11 | g.71444094C>T | CA6162664 | DHCR7 | c.220G>A (p.Asp74Asn) c.46G>A (p.Asp16Asn) n.497G>A c.-333-33G>A (n.-333-33G>A) c.124G>A (p.Asp42Asn) c.160G>A (p.Asp54Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444095C>A | CA475520526 | DHCR7 | c.219G>T (p.Val73=) c.45G>T (p.Val15=) n.496G>T c.-333-34G>T (n.-333-34G>T) c.123G>T (p.Val41=) c.159G>T (p.Val53=) | |
| 11 | g.71444095C>G | CA475520525 | DHCR7 | c.219G>C (p.Val73=) c.45G>C (p.Val15=) n.496G>C c.-333-34G>C (n.-333-34G>C) c.123G>C (p.Val41=) c.159G>C (p.Val53=) | |
| 11 | g.71444095C>T | CA475520524 | DHCR7 | c.219G>A (p.Val73=) c.45G>A (p.Val15=) n.496G>A c.-333-34G>A (n.-333-34G>A) c.123G>A (p.Val41=) c.159G>A (p.Val53=) | gnomAD v4 |
| 11 | g.71444096A>C | CA381696453 | DHCR7 | c.218T>G (p.Val73Gly) c.44T>G (p.Val15Gly) n.495T>G c.-333-35T>G (n.-333-35T>G) c.122T>G (p.Val41Gly) c.158T>G (p.Val53Gly) | |
| 11 | g.71444096A>G | CA381696456 | DHCR7 | c.218T>C (p.Val73Ala) c.44T>C (p.Val15Ala) n.495T>C c.-333-35T>C (n.-333-35T>C) c.122T>C (p.Val41Ala) c.158T>C (p.Val53Ala) | gnomAD v4 |
| 11 | g.71444096A>T | CA381696458 | DHCR7 | c.218T>A (p.Val73Glu) c.44T>A (p.Val15Glu) n.495T>A c.-333-35T>A (n.-333-35T>A) c.122T>A (p.Val41Glu) c.158T>A (p.Val53Glu) |