| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.38351610_38351668dup | CA1139663833 | SPRED1 | c.1281_*4dup (n.1281_*4dup) c.1317_*4dup (n.1317_*4dup) c.1059_*4dup (n.1059_*4dup) c.1218_*4dup (n.1218_*4dup) | ClinVar dbSNP |
| 15 | g.38351618_38351627del | CA658761266 | SPRED1 | c.1289_1298del (p.Gly430ValfsTer29) c.1325_1334del (p.Gly442ValfsTer29) c.1067_1076del (p.Gly356ValfsTer29) c.1226_1235del (p.Gly409ValfsTer29) | |
| 15 | g.38351624C>A | CA391934790 | SPRED1 | c.1295C>A (p.Ala432Glu) c.1331C>A (p.Ala444Glu) c.1073C>A (p.Ala358Glu) c.1232C>A (p.Ala411Glu) | |
| 15 | g.38351624C= | CA2170812785 | SPRED1 | c.1295C= (p.Ala432=) c.1331C= (p.Ala444=) c.1073C= (p.Ala358=) c.1232C= (p.Ala411=) | |
| 15 | g.38351624C>G | CA391934791 | SPRED1 | c.1295C>G (p.Ala432Gly) c.1331C>G (p.Ala444Gly) c.1073C>G (p.Ala358Gly) c.1232C>G (p.Ala411Gly) | |
| 15 | g.38351624C>T | CA7470259 | SPRED1 | c.1295C>T (p.Ala432Val) c.1331C>T (p.Ala444Val) c.1073C>T (p.Ala358Val) c.1232C>T (p.Ala411Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351625A>C | CA489922951 | SPRED1 | c.1296A>C (p.Ala432=) c.1332A>C (p.Ala444=) c.1074A>C (p.Ala358=) c.1233A>C (p.Ala411=) | |
| 15 | g.38351625A>G | CA489922952 | SPRED1 | c.1296A>G (p.Ala432=) c.1332A>G (p.Ala444=) c.1074A>G (p.Ala358=) c.1233A>G (p.Ala411=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.38351625A>T | CA489922953 | SPRED1 | c.1296A>T (p.Ala432=) c.1332A>T (p.Ala444=) c.1074A>T (p.Ala358=) c.1233A>T (p.Ala411=) | |
| 15 | g.38351626T>A | CA391934794 | SPRED1 | c.1297T>A (p.Cys433Ser) c.1333T>A (p.Cys445Ser) c.1075T>A (p.Cys359Ser) c.1234T>A (p.Cys412Ser) | |
| 15 | g.38351626T>C | CA391934792 | SPRED1 | c.1297T>C (p.Cys433Arg) c.1333T>C (p.Cys445Arg) c.1075T>C (p.Cys359Arg) c.1234T>C (p.Cys412Arg) | |
| 15 | g.38351626T>G | CA391934793 | SPRED1 | c.1297T>G (p.Cys433Gly) c.1333T>G (p.Cys445Gly) c.1075T>G (p.Cys359Gly) c.1234T>G (p.Cys412Gly) | |
| 15 | g.38351626_38351629delinsTGTG | CA2170812786 | SPRED1 | c.1297_1300delinsTGTG (p.Cys433=) c.1333_1336delinsTGTG (p.Cys445=) c.1075_1078delinsTGTG (p.Cys359=) c.1234_1237delinsTGTG (p.Cys412=) | |
| 15 | g.38351627G>A | CA7470260 | SPRED1 | c.1298G>A (p.Cys433Tyr) c.1334G>A (p.Cys445Tyr) c.1076G>A (p.Cys359Tyr) c.1235G>A (p.Cys412Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351627G>C | CA391934795 | SPRED1 | c.1298G>C (p.Cys433Ser) c.1334G>C (p.Cys445Ser) c.1076G>C (p.Cys359Ser) c.1235G>C (p.Cys412Ser) | |
| 15 | g.38351627G= | CA2170812787 | SPRED1 | c.1298G= (p.Cys433=) c.1334G= (p.Cys445=) c.1076G= (p.Cys359=) c.1235G= (p.Cys412=) | |
| 15 | g.38351627G>T | CA391934796 | SPRED1 | c.1298G>T (p.Cys433Phe) c.1334G>T (p.Cys445Phe) c.1076G>T (p.Cys359Phe) c.1235G>T (p.Cys412Phe) | |
| 15 | g.38351629_38351631del | CA968818059 | SPRED1 | c.1300_1302del (p.Gly434del) c.1336_1338del (p.Gly446del) c.1078_1080del (p.Gly360del) c.1237_1239del (p.Gly413del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.38351628T>A | CA391934797 | SPRED1 | c.1299T>A (p.Cys433Ter) c.1335T>A (p.Cys445Ter) c.1077T>A (p.Cys359Ter) c.1236T>A (p.Cys412Ter) | |
| 15 | g.38351628T>C | CA489922954 | SPRED1 | c.1299T>C (p.Cys433=) c.1335T>C (p.Cys445=) c.1077T>C (p.Cys359=) c.1236T>C (p.Cys412=) | ClinVar dbSNP |
| 15 | g.38351628T>G | CA391934798 | SPRED1 | c.1299T>G (p.Cys433Trp) c.1335T>G (p.Cys445Trp) c.1077T>G (p.Cys359Trp) c.1236T>G (p.Cys412Trp) | |
| 15 | g.38351629G>A | CA391934799 | SPRED1 | c.1300G>A (p.Gly434Ser) c.1336G>A (p.Gly446Ser) c.1078G>A (p.Gly360Ser) c.1237G>A (p.Gly413Ser) | gnomAD v4 |
| 15 | g.38351629G>C | CA391934800 | SPRED1 | c.1300G>C (p.Gly434Arg) c.1336G>C (p.Gly446Arg) c.1078G>C (p.Gly360Arg) c.1237G>C (p.Gly413Arg) | |
| 15 | g.38351629G>T | CA391934801 | SPRED1 | c.1300G>T (p.Gly434Cys) c.1336G>T (p.Gly446Cys) c.1078G>T (p.Gly360Cys) c.1237G>T (p.Gly413Cys) | ClinVar gnomAD v4 |
| 15 | g.38351630G>A | CA391934802 | SPRED1 | c.1301G>A (p.Gly434Asp) c.1337G>A (p.Gly446Asp) c.1079G>A (p.Gly360Asp) c.1238G>A (p.Gly413Asp) | gnomAD v4 |
| 15 | g.38351630G>C | CA391934803 | SPRED1 | c.1301G>C (p.Gly434Ala) c.1337G>C (p.Gly446Ala) c.1079G>C (p.Gly360Ala) c.1238G>C (p.Gly413Ala) | |
| 15 | g.38351630G= | CA2170812788 | SPRED1 | c.1301G= (p.Gly434=) c.1337G= (p.Gly446=) c.1079G= (p.Gly360=) c.1238G= (p.Gly413=) | |
| 15 | g.38351630G>T | CA7470261 | SPRED1 | c.1301G>T (p.Gly434Val) c.1337G>T (p.Gly446Val) c.1079G>T (p.Gly360Val) c.1238G>T (p.Gly413Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.38351631T>A | CA489922955 | SPRED1 | c.1302T>A (p.Gly434=) c.1338T>A (p.Gly446=) c.1080T>A (p.Gly360=) c.1239T>A (p.Gly413=) | |
| 15 | g.38351631T>C | CA489922956 | SPRED1 | c.1302T>C (p.Gly434=) c.1338T>C (p.Gly446=) c.1080T>C (p.Gly360=) c.1239T>C (p.Gly413=) | |
| 15 | g.38351631T>G | CA489922957 | SPRED1 | c.1302T>G (p.Gly434=) c.1338T>G (p.Gly446=) c.1080T>G (p.Gly360=) c.1239T>G (p.Gly413=) | |
| 15 | g.38351632T>A | CA391934806 | SPRED1 | c.1303T>A (p.Cys435Ser) c.1339T>A (p.Cys447Ser) c.1081T>A (p.Cys361Ser) c.1240T>A (p.Cys414Ser) | |
| 15 | g.38351632T>C | CA391934805 | SPRED1 | c.1303T>C (p.Cys435Arg) c.1339T>C (p.Cys447Arg) c.1081T>C (p.Cys361Arg) c.1240T>C (p.Cys414Arg) | |
| 15 | g.38351632T>G | CA391934804 | SPRED1 | c.1303T>G (p.Cys435Gly) c.1339T>G (p.Cys447Gly) c.1081T>G (p.Cys361Gly) c.1240T>G (p.Cys414Gly) | |
| 15 | g.38351633G>A | CA391934807 | SPRED1 | c.1304G>A (p.Cys435Tyr) c.1340G>A (p.Cys447Tyr) c.1082G>A (p.Cys361Tyr) c.1241G>A (p.Cys414Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351633G>C | CA391934808 | SPRED1 | c.1304G>C (p.Cys435Ser) c.1340G>C (p.Cys447Ser) c.1082G>C (p.Cys361Ser) c.1241G>C (p.Cys414Ser) | |
| 15 | g.38351633G= | CA2170812789 | SPRED1 | c.1304G= (p.Cys435=) c.1340G= (p.Cys447=) c.1082G= (p.Cys361=) c.1241G= (p.Cys414=) | |
| 15 | g.38351633G>T | CA391934809 | SPRED1 | c.1304G>T (p.Cys435Phe) c.1340G>T (p.Cys447Phe) c.1082G>T (p.Cys361Phe) c.1241G>T (p.Cys414Phe) | gnomAD v4 COSMIC |
| 15 | g.38351634C>A | CA391934810 | SPRED1 | c.1305C>A (p.Cys435Ter) c.1341C>A (p.Cys447Ter) c.1083C>A (p.Cys361Ter) c.1242C>A (p.Cys414Ter) | |
| 15 | g.38351634C>G | CA391934811 | SPRED1 | c.1305C>G (p.Cys435Trp) c.1341C>G (p.Cys447Trp) c.1083C>G (p.Cys361Trp) c.1242C>G (p.Cys414Trp) | |
| 15 | g.38351634C>T | CA489922958 | SPRED1 | c.1305C>T (p.Cys435=) c.1341C>T (p.Cys447=) c.1083C>T (p.Cys361=) c.1242C>T (p.Cys414=) | |
| 15 | g.38351635T>A | CA391934812 | SPRED1 | c.1306T>A (p.Cys436Ser) c.1342T>A (p.Cys448Ser) c.1084T>A (p.Cys362Ser) c.1243T>A (p.Cys415Ser) | |
| 15 | g.38351635T>C | CA391934813 | SPRED1 | c.1306T>C (p.Cys436Arg) c.1342T>C (p.Cys448Arg) c.1084T>C (p.Cys362Arg) c.1243T>C (p.Cys415Arg) | |
| 15 | g.38351635T>G | CA391934814 | SPRED1 | c.1306T>G (p.Cys436Gly) c.1342T>G (p.Cys448Gly) c.1084T>G (p.Cys362Gly) c.1243T>G (p.Cys415Gly) | |
| 15 | g.38351636G>A | CA7470262 | SPRED1 | c.1307G>A (p.Cys436Tyr) c.1343G>A (p.Cys448Tyr) c.1085G>A (p.Cys362Tyr) c.1244G>A (p.Cys415Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351636G>C | CA391934815 | SPRED1 | c.1307G>C (p.Cys436Ser) c.1343G>C (p.Cys448Ser) c.1085G>C (p.Cys362Ser) c.1244G>C (p.Cys415Ser) | ClinVar |
| 15 | g.38351636G= | CA2170812790 | SPRED1 | c.1307G= (p.Cys436=) c.1343G= (p.Cys448=) c.1085G= (p.Cys362=) c.1244G= (p.Cys415=) | |
| 15 | g.38351636G>T | CA391934816 | SPRED1 | c.1307G>T (p.Cys436Phe) c.1343G>T (p.Cys448Phe) c.1085G>T (p.Cys362Phe) c.1244G>T (p.Cys415Phe) | gnomAD v4 |
| 15 | g.38351637T>A | CA391934817 | SPRED1 | c.1308T>A (p.Cys436Ter) c.1344T>A (p.Cys448Ter) c.1086T>A (p.Cys362Ter) c.1245T>A (p.Cys415Ter) | |
| 15 | g.38351637T>C | CA489922959 | SPRED1 | c.1308T>C (p.Cys436=) c.1344T>C (p.Cys448=) c.1086T>C (p.Cys362=) c.1245T>C (p.Cys415=) |