| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.89280323_89280324delinsCG | CA2241587326 | ANKRD11 | c.6218_6219delinsCG (p.Pro2073=) c.*6021_*6022delinsCG (n.*6021_*6022delinsCG) c.745-5133_745-5132delinsCG (n.745-5133_745-5132delinsCG) c.152-5133_152-5132delinsCG c.6116_6117delinsCG (p.Pro2039=) c.5921_5922delinsCG (p.Pro1974=) c.6089_6090delinsCG (p.Pro2030=) | |
| 16 | g.89280324G>A | CA8241529 | ANKRD11 | c.6218C>T (p.Pro2073Leu) c.*6021C>T (n.*6021C>T) c.745-5133C>T (n.745-5133C>T) c.152-5133C>T c.6116C>T (p.Pro2039Leu) c.5921C>T (p.Pro1974Leu) c.6089C>T (p.Pro2030Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89280324G>C | CA397151670 | ANKRD11 | c.6218C>G (p.Pro2073Arg) c.*6021C>G (n.*6021C>G) c.745-5133C>G (n.745-5133C>G) c.152-5133C>G c.6116C>G (p.Pro2039Arg) c.5921C>G (p.Pro1974Arg) c.6089C>G (p.Pro2030Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89280324G= | CA2241587327 | ANKRD11 | c.6218C= (p.Pro2073=) c.*6021C= (n.*6021C=) c.745-5133C= (n.745-5133C=) c.152-5133C= c.6116C= (p.Pro2039=) c.5921C= (p.Pro1974=) c.6089C= (p.Pro2030=) | |
| 16 | g.89280324G>T | CA397151671 | ANKRD11 | c.6218C>A (p.Pro2073Gln) c.*6021C>A (n.*6021C>A) c.745-5133C>A (n.745-5133C>A) c.152-5133C>A c.6116C>A (p.Pro2039Gln) c.5921C>A (p.Pro1974Gln) c.6089C>A (p.Pro2030Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89280325del | CA16043632 | ANKRD11 | c.6218del (p.Pro2073ArgfsTer14) c.*6021del (n.*6021del) c.745-5133del (n.745-5133del) c.152-5133del c.6116del (p.Pro2039ArgfsTer14) c.5921del (p.Pro1974ArgfsTer14) c.6089del (p.Pro2030ArgfsTer14) | ClinVar dbSNP |
| 16 | g.89280325G>A | CA397151677 | ANKRD11 | c.6217C>T (p.Pro2073Ser) c.*6020C>T (n.*6020C>T) c.745-5134C>T (n.745-5134C>T) c.152-5134C>T c.6115C>T (p.Pro2039Ser) c.5920C>T (p.Pro1974Ser) c.6088C>T (p.Pro2030Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89280325G>C | CA397151674 | ANKRD11 | c.6217C>G (p.Pro2073Ala) c.*6020C>G (n.*6020C>G) c.745-5134C>G (n.745-5134C>G) c.152-5134C>G c.6115C>G (p.Pro2039Ala) c.5920C>G (p.Pro1974Ala) c.6088C>G (p.Pro2030Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89280325G= | CA2241587328 | ANKRD11 | c.6217C= (p.Pro2073=) c.*6020C= (n.*6020C=) c.745-5134C= (n.745-5134C=) c.152-5134C= c.6115C= (p.Pro2039=) c.5920C= (p.Pro1974=) c.6088C= (p.Pro2030=) | |
| 16 | g.89280325G>T | CA397151676 | ANKRD11 | c.6217C>A (p.Pro2073Thr) c.*6020C>A (n.*6020C>A) c.745-5134C>A (n.745-5134C>A) c.152-5134C>A c.6115C>A (p.Pro2039Thr) c.5920C>A (p.Pro1974Thr) c.6088C>A (p.Pro2030Thr) | dbSNP gnomAD v4 |
| 16 | g.89280326A>C | CA497373090 | ANKRD11 | c.6216T>G (p.Leu2072=) c.*6019T>G (n.*6019T>G) c.745-5135T>G (n.745-5135T>G) c.152-5135T>G c.6114T>G (p.Leu2038=) c.5919T>G (p.Leu1973=) c.6087T>G (p.Leu2029=) | |
| 16 | g.89280326A>G | CA497373091 | ANKRD11 | c.6216T>C (p.Leu2072=) c.*6019T>C (n.*6019T>C) c.745-5135T>C (n.745-5135T>C) c.152-5135T>C c.6114T>C (p.Leu2038=) c.5919T>C (p.Leu1973=) c.6087T>C (p.Leu2029=) | |
| 16 | g.89280326A>T | CA497373092 | ANKRD11 | c.6216T>A (p.Leu2072=) c.*6019T>A (n.*6019T>A) c.745-5135T>A (n.745-5135T>A) c.152-5135T>A c.6114T>A (p.Leu2038=) c.5919T>A (p.Leu1973=) c.6087T>A (p.Leu2029=) | gnomAD v4 |
| 16 | g.89280327A>C | CA397151679 | ANKRD11 | c.6215T>G (p.Leu2072Arg) c.*6018T>G (n.*6018T>G) c.745-5136T>G (n.745-5136T>G) c.152-5136T>G c.6113T>G (p.Leu2038Arg) c.5918T>G (p.Leu1973Arg) c.6086T>G (p.Leu2029Arg) | |
| 16 | g.89280327A>G | CA397151681 | ANKRD11 | c.6215T>C (p.Leu2072Pro) c.*6018T>C (n.*6018T>C) c.745-5136T>C (n.745-5136T>C) c.152-5136T>C c.6113T>C (p.Leu2038Pro) c.5918T>C (p.Leu1973Pro) c.6086T>C (p.Leu2029Pro) | |
| 16 | g.89280327A>T | CA397151683 | ANKRD11 | c.6215T>A (p.Leu2072His) c.*6018T>A (n.*6018T>A) c.745-5136T>A (n.745-5136T>A) c.152-5136T>A c.6113T>A (p.Leu2038His) c.5918T>A (p.Leu1973His) c.6086T>A (p.Leu2029His) | |
| 16 | g.89280328G>A | CA8241530 | ANKRD11 | c.6214C>T (p.Leu2072Phe) c.*6017C>T (n.*6017C>T) c.745-5137C>T (n.745-5137C>T) c.152-5137C>T c.6112C>T (p.Leu2038Phe) c.5917C>T (p.Leu1973Phe) c.6085C>T (p.Leu2029Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.89280328G>C | CA397151686 | ANKRD11 | c.6214C>G (p.Leu2072Val) c.*6017C>G (n.*6017C>G) c.745-5137C>G (n.745-5137C>G) c.152-5137C>G c.6112C>G (p.Leu2038Val) c.5917C>G (p.Leu1973Val) c.6085C>G (p.Leu2029Val) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89280328G= | CA2241587329 | ANKRD11 | c.6214C= (p.Leu2072=) c.*6017C= (n.*6017C=) c.745-5137C= (n.745-5137C=) c.152-5137C= c.6112C= (p.Leu2038=) c.5917C= (p.Leu1973=) c.6085C= (p.Leu2029=) | |
| 16 | g.89280328G>T | CA397151688 | ANKRD11 | c.6214C>A (p.Leu2072Ile) c.*6017C>A (n.*6017C>A) c.745-5137C>A (n.745-5137C>A) c.152-5137C>A c.6112C>A (p.Leu2038Ile) c.5917C>A (p.Leu1973Ile) c.6085C>A (p.Leu2029Ile) | |
| 16 | g.89280329T>A | CA497373093 | ANKRD11 | c.6213A>T (p.Ser2071=) c.*6016A>T (n.*6016A>T) c.745-5138A>T (n.745-5138A>T) c.152-5138A>T c.6111A>T (p.Ser2037=) c.5916A>T (p.Ser1972=) c.6084A>T (p.Ser2028=) | |
| 16 | g.89280329T>C | CA497373094 | ANKRD11 | c.6213A>G (p.Ser2071=) c.*6016A>G (n.*6016A>G) c.745-5138A>G (n.745-5138A>G) c.152-5138A>G c.6111A>G (p.Ser2037=) c.5916A>G (p.Ser1972=) c.6084A>G (p.Ser2028=) | |
| 16 | g.89280329T>G | CA497373095 | ANKRD11 | c.6213A>C (p.Ser2071=) c.*6016A>C (n.*6016A>C) c.745-5138A>C (n.745-5138A>C) c.152-5138A>C c.6111A>C (p.Ser2037=) c.5916A>C (p.Ser1972=) c.6084A>C (p.Ser2028=) | gnomAD v4 |
| 16 | g.89280330G>A | CA8241531 | ANKRD11 | c.6212C>T (p.Ser2071Leu) c.*6015C>T (n.*6015C>T) c.745-5139C>T (n.745-5139C>T) c.152-5139C>T c.6110C>T (p.Ser2037Leu) c.5915C>T (p.Ser1972Leu) c.6083C>T (p.Ser2028Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89280330G>C | CA16044381 | ANKRD11 | c.6212C>G (p.Ser2071Ter) c.*6015C>G (n.*6015C>G) c.745-5139C>G (n.745-5139C>G) c.152-5139C>G c.6110C>G (p.Ser2037Ter) c.5915C>G (p.Ser1972Ter) c.6083C>G (p.Ser2028Ter) | ClinVar dbSNP |
| 16 | g.89280330G= | CA2241587331 | ANKRD11 | c.6212C= (p.Ser2071=) c.*6015C= (n.*6015C=) c.745-5139C= (n.745-5139C=) c.152-5139C= c.6110C= (p.Ser2037=) c.5915C= (p.Ser1972=) c.6083C= (p.Ser2028=) | |
| 16 | g.89280330G>T | CA397151693 | ANKRD11 | c.6212C>A (p.Ser2071Ter) c.*6015C>A (n.*6015C>A) c.745-5139C>A (n.745-5139C>A) c.152-5139C>A c.6110C>A (p.Ser2037Ter) c.5915C>A (p.Ser1972Ter) c.6083C>A (p.Ser2028Ter) | gnomAD v4 |
| 16 | g.89280330_89280332delinsGAC | CA2241587330 | ANKRD11 | c.6210_6212delinsGTC (p.Lys2070=) c.*6013_*6015delinsGTC (n.*6013_*6015delinsGTC) c.745-5141_745-5139delinsGTC (n.745-5141_745-5139delinsGTC) c.152-5141_152-5139delinsGTC c.6108_6110delinsGTC (p.Lys2036=) c.5913_5915delinsGTC (p.Lys1971=) c.6081_6083delinsGTC (p.Lys2027=) | |
| 16 | g.89280331A= | CA2241587332 | ANKRD11 | c.6211T= (p.Ser2071=) c.*6014T= (n.*6014T=) c.745-5140T= (n.745-5140T=) c.152-5140T= c.6109T= (p.Ser2037=) c.5914T= (p.Ser1972=) c.6082T= (p.Ser2028=) | |
| 16 | g.89280331A>C | CA397151699 | ANKRD11 | c.6211T>G (p.Ser2071Ala) c.*6014T>G (n.*6014T>G) c.745-5140T>G (n.745-5140T>G) c.152-5140T>G c.6109T>G (p.Ser2037Ala) c.5914T>G (p.Ser1972Ala) c.6082T>G (p.Ser2028Ala) | |
| 16 | g.89280331A>G | CA8241532 | ANKRD11 | c.6211T>C (p.Ser2071Pro) c.*6014T>C (n.*6014T>C) c.745-5140T>C (n.745-5140T>C) c.152-5140T>C c.6109T>C (p.Ser2037Pro) c.5914T>C (p.Ser1972Pro) c.6082T>C (p.Ser2028Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89280331A>T | CA397151696 | ANKRD11 | c.6211T>A (p.Ser2071Thr) c.*6014T>A (n.*6014T>A) c.745-5140T>A (n.745-5140T>A) c.152-5140T>A c.6109T>A (p.Ser2037Thr) c.5914T>A (p.Ser1972Thr) c.6082T>A (p.Ser2028Thr) | |
| 16 | g.89280331_89280332del | CA279569 | ANKRD11 | c.6210_6211del (p.Lys2070AsnfsTer?) c.*6013_*6014del (n.*6013_*6014del) c.745-5141_745-5140del (n.745-5141_745-5140del) c.152-5141_152-5140del c.6108_6109del (p.Lys2036AsnfsTer?) c.5913_5914del (p.Lys1971AsnfsTer?) c.6081_6082del (p.Lys2027AsnfsTer?) | ClinVar dbSNP |
| 16 | g.89280332C>A | CA397151702 | ANKRD11 | c.6210G>T (p.Lys2070Asn) c.*6013G>T (n.*6013G>T) c.745-5141G>T (n.745-5141G>T) c.152-5141G>T c.6108G>T (p.Lys2036Asn) c.5913G>T (p.Lys1971Asn) c.6081G>T (p.Lys2027Asn) | |
| 16 | g.89280332C= | CA2241587333 | ANKRD11 | c.6210G= (p.Lys2070=) c.*6013G= (n.*6013G=) c.745-5141G= (n.745-5141G=) c.152-5141G= c.6108G= (p.Lys2036=) c.5913G= (p.Lys1971=) c.6081G= (p.Lys2027=) | |
| 16 | g.89280332C>G | CA397151704 | ANKRD11 | c.6210G>C (p.Lys2070Asn) c.*6013G>C (n.*6013G>C) c.745-5141G>C (n.745-5141G>C) c.152-5141G>C c.6108G>C (p.Lys2036Asn) c.5913G>C (p.Lys1971Asn) c.6081G>C (p.Lys2027Asn) | gnomAD v4 |
| 16 | g.89280332C>T | CA8241533 | ANKRD11 | c.6210G>A (p.Lys2070=) c.*6013G>A (n.*6013G>A) c.745-5141G>A (n.745-5141G>A) c.152-5141G>A c.6108G>A (p.Lys2036=) c.5913G>A (p.Lys1971=) c.6081G>A (p.Lys2027=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89280333T>A | CA397151707 | ANKRD11 | c.6209A>T (p.Lys2070Met) c.*6012A>T (n.*6012A>T) c.745-5142A>T (n.745-5142A>T) c.152-5142A>T c.6107A>T (p.Lys2036Met) c.5912A>T (p.Lys1971Met) c.6080A>T (p.Lys2027Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89280333T>C | CA397151709 | ANKRD11 | c.6209A>G (p.Lys2070Arg) c.*6012A>G (n.*6012A>G) c.745-5142A>G (n.745-5142A>G) c.152-5142A>G c.6107A>G (p.Lys2036Arg) c.5912A>G (p.Lys1971Arg) c.6080A>G (p.Lys2027Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89280333T>G | CA397151711 | ANKRD11 | c.6209A>C (p.Lys2070Thr) c.*6012A>C (n.*6012A>C) c.745-5142A>C (n.745-5142A>C) c.152-5142A>C c.6107A>C (p.Lys2036Thr) c.5912A>C (p.Lys1971Thr) c.6080A>C (p.Lys2027Thr) | |
| 16 | g.89280333T= | CA2241587334 | ANKRD11 | c.6209A= (p.Lys2070=) c.*6012A= (n.*6012A=) c.745-5142A= (n.745-5142A=) c.152-5142A= c.6107A= (p.Lys2036=) c.5912A= (p.Lys1971=) c.6080A= (p.Lys2027=) | |
| 16 | g.89280334T>A | CA397151714 | ANKRD11 | c.6208A>T (p.Lys2070Ter) c.*6011A>T (n.*6011A>T) c.745-5143A>T (n.745-5143A>T) c.152-5143A>T c.6106A>T (p.Lys2036Ter) c.5911A>T (p.Lys1971Ter) c.6079A>T (p.Lys2027Ter) | |
| 16 | g.89280334T>C | CA397151716 | ANKRD11 | c.6208A>G (p.Lys2070Glu) c.*6011A>G (n.*6011A>G) c.745-5143A>G (n.745-5143A>G) c.152-5143A>G c.6106A>G (p.Lys2036Glu) c.5911A>G (p.Lys1971Glu) c.6079A>G (p.Lys2027Glu) | gnomAD v4 |
| 16 | g.89280334T>G | CA397151718 | ANKRD11 | c.6208A>C (p.Lys2070Gln) c.*6011A>C (n.*6011A>C) c.745-5143A>C (n.745-5143A>C) c.152-5143A>C c.6106A>C (p.Lys2036Gln) c.5911A>C (p.Lys1971Gln) c.6079A>C (p.Lys2027Gln) | |
| 16 | g.89280336_89280344del | CA2634942518 | ANKRD11 | c.6200_6208del (p.Ser2067_Cys2069del) c.*6003_*6011del (n.*6003_*6011del) c.745-5151_745-5143del (n.745-5151_745-5143del) c.152-5151_152-5143del c.6098_6106del (p.Ser2033_Cys2035del) c.5903_5911del (p.Ser1968_Cys1970del) c.6071_6079del (p.Ser2024_Cys2026del) | gnomAD v4 |
| 16 | g.89280335G>A | CA8241534 | ANKRD11 | c.6207C>T (p.Cys2069=) c.*6010C>T (n.*6010C>T) c.745-5144C>T (n.745-5144C>T) c.152-5144C>T c.6105C>T (p.Cys2035=) c.5910C>T (p.Cys1970=) c.6078C>T (p.Cys2026=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89280335G>C | CA397151720 | ANKRD11 | c.6207C>G (p.Cys2069Trp) c.*6010C>G (n.*6010C>G) c.745-5144C>G (n.745-5144C>G) c.152-5144C>G c.6105C>G (p.Cys2035Trp) c.5910C>G (p.Cys1970Trp) c.6078C>G (p.Cys2026Trp) | dbSNP |
| 16 | g.89280335G= | CA2241587335 | ANKRD11 | c.6207C= (p.Cys2069=) c.*6010C= (n.*6010C=) c.745-5144C= (n.745-5144C=) c.152-5144C= c.6105C= (p.Cys2035=) c.5910C= (p.Cys1970=) c.6078C= (p.Cys2026=) | |
| 16 | g.89280335G>T | CA397151722 | ANKRD11 | c.6207C>A (p.Cys2069Ter) c.*6010C>A (n.*6010C>A) c.745-5144C>A (n.745-5144C>A) c.152-5144C>A c.6105C>A (p.Cys2035Ter) c.5910C>A (p.Cys1970Ter) c.6078C>A (p.Cys2026Ter) | |
| 16 | g.89280336C>A | CA8241535 | ANKRD11 | c.6206G>T (p.Cys2069Phe) c.*6009G>T (n.*6009G>T) c.745-5145G>T (n.745-5145G>T) c.152-5145G>T c.6104G>T (p.Cys2035Phe) c.5909G>T (p.Cys1970Phe) c.6077G>T (p.Cys2026Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |