UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.88858924A>C | CA492287542 | ACAN | c.6339A>C (p.Ala2113=) c.6282A>C (p.Ala2094=) | |
| 15 | g.88858924A>G | CA492287543 | ACAN | c.6339A>G (p.Ala2113=) c.6282A>G (p.Ala2094=) | |
| 15 | g.88858924A>T | CA492287544 | ACAN | c.6339A>T (p.Ala2113=) c.6282A>T (p.Ala2094=) | |
| 15 | g.88858925T>A | CA393727046 | ACAN | c.6340T>A (p.Ser2114Thr) c.6283T>A (p.Ser2095Thr) | |
| 15 | g.88858925T>C | CA393727047 | ACAN | c.6340T>C (p.Ser2114Pro) c.6283T>C (p.Ser2095Pro) | |
| 15 | g.88858925T>G | CA393727048 | ACAN | c.6340T>G (p.Ser2114Ala) c.6283T>G (p.Ser2095Ala) | |
| 15 | g.88858926C>A | CA393727049 | ACAN | c.6341C>A (p.Ser2114Tyr) c.6284C>A (p.Ser2095Tyr) | |
| 15 | g.88858926C>G | CA393727050 | ACAN | c.6341C>G (p.Ser2114Cys) c.6284C>G (p.Ser2095Cys) | gnomAD v4 |
| 15 | g.88858926C>T | CA393727051 | ACAN | c.6341C>T (p.Ser2114Phe) c.6284C>T (p.Ser2095Phe) | |
| 15 | g.88858927T>A | CA492287550 | ACAN | c.6342T>A (p.Ser2114=) c.6285T>A (p.Ser2095=) | |
| 15 | g.88858927T>C | CA492287549 | ACAN | c.6342T>C (p.Ser2114=) c.6285T>C (p.Ser2095=) | gnomAD v4 |
| 15 | g.88858927T>G | CA492287551 | ACAN | c.6342T>G (p.Ser2114=) c.6285T>G (p.Ser2095=) | |
| 15 | g.88858928G>A | CA393727052 | ACAN | c.6343G>A (p.Ala2115Thr) c.6286G>A (p.Ala2096Thr) | |
| 15 | g.88858928G>C | CA393727053 | ACAN | c.6343G>C (p.Ala2115Pro) c.6286G>C (p.Ala2096Pro) | |
| 15 | g.88858928G>T | CA393727054 | ACAN | c.6343G>T (p.Ala2115Ser) c.6286G>T (p.Ala2096Ser) | |
| 15 | g.88858929C>A | CA393727055 | ACAN | c.6344C>A (p.Ala2115Asp) c.6287C>A (p.Ala2096Asp) | gnomAD v4 |
| 15 | g.88858929C>G | CA393727056 | ACAN | c.6344C>G (p.Ala2115Gly) c.6287C>G (p.Ala2096Gly) | |
| 15 | g.88858929C>T | CA393727057 | ACAN | c.6344C>T (p.Ala2115Val) c.6287C>T (p.Ala2096Val) | |
| 15 | g.88858930C>A | CA492287555 | ACAN | c.6345C>A (p.Ala2115=) c.6288C>A (p.Ala2096=) | gnomAD v4 |
| 15 | g.88858930C= | CA2194343586 | ACAN | c.6345C= (p.Ala2115=) c.6288C= (p.Ala2096=) | |
| 15 | g.88858930C>G | CA492287557 | ACAN | c.6345C>G (p.Ala2115=) c.6288C>G (p.Ala2096=) | |
| 15 | g.88858930C>T | CA7720382 | ACAN | c.6345C>T (p.Ala2115=) c.6288C>T (p.Ala2096=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88858931G>A | CA7720383 | ACAN | c.6346G>A (p.Ala2116Thr) c.6289G>A (p.Ala2097Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.88858931G>C | CA393727059 | ACAN | c.6346G>C (p.Ala2116Pro) c.6289G>C (p.Ala2097Pro) | |
| 15 | g.88858931G= | CA2194343587 | ACAN | c.6346G= (p.Ala2116=) c.6289G= (p.Ala2097=) | |
| 15 | g.88858931G>T | CA393727058 | ACAN | c.6346G>T (p.Ala2116Ser) c.6289G>T (p.Ala2097Ser) | gnomAD v4 |
| 15 | g.88858932C>A | CA393727060 | ACAN | c.6347C>A (p.Ala2116Asp) c.6290C>A (p.Ala2097Asp) | |
| 15 | g.88858932C= | CA2194343588 | ACAN | c.6347C= (p.Ala2116=) c.6290C= (p.Ala2097=) | |
| 15 | g.88858932C>G | CA393727061 | ACAN | c.6347C>G (p.Ala2116Gly) c.6290C>G (p.Ala2097Gly) | |
| 15 | g.88858932C>T | CA393727062 | ACAN | c.6347C>T (p.Ala2116Val) c.6290C>T (p.Ala2097Val) | dbSNP gnomAD v2 COSMIC COSMIC |
| 15 | g.88858933C>A | CA492287567 | ACAN | c.6348C>A (p.Ala2116=) c.6291C>A (p.Ala2097=) | |
| 15 | g.88858933C= | CA2194343589 | ACAN | c.6348C= (p.Ala2116=) c.6291C= (p.Ala2097=) | |
| 15 | g.88858933C>G | CA492287566 | ACAN | c.6348C>G (p.Ala2116=) c.6291C>G (p.Ala2097=) | |
| 15 | g.88858933C>T | CA7720384 | ACAN | c.6348C>T (p.Ala2116=) c.6291C>T (p.Ala2097=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88858934C>A | CA393727063 | ACAN | c.6349C>A (p.Pro2117Thr) c.6292C>A (p.Pro2098Thr) | |
| 15 | g.88858934C= | CA2194343590 | ACAN | c.6349C= (p.Pro2117=) c.6292C= (p.Pro2098=) | |
| 15 | g.88858934C>G | CA393727064 | ACAN | c.6349C>G (p.Pro2117Ala) c.6292C>G (p.Pro2098Ala) | |
| 15 | g.88858934C>T | CA7720385 | ACAN | c.6349C>T (p.Pro2117Ser) c.6292C>T (p.Pro2098Ser) | dbSNP ExAC gnomAD v2 |
| 15 | g.88858935C>A | CA393727065 | ACAN | c.6350C>A (p.Pro2117His) c.6293C>A (p.Pro2098His) | |
| 15 | g.88858935C= | CA2194343591 | ACAN | c.6350C= (p.Pro2117=) c.6293C= (p.Pro2098=) | |
| 15 | g.88858935C>G | CA393727066 | ACAN | c.6350C>G (p.Pro2117Arg) c.6293C>G (p.Pro2098Arg) | |
| 15 | g.88858935C>T | CA393727067 | ACAN | c.6350C>T (p.Pro2117Leu) c.6293C>T (p.Pro2098Leu) | dbSNP |
| 15 | g.88858936T>A | CA492287570 | ACAN | c.6351T>A (p.Pro2117=) c.6294T>A (p.Pro2098=) | |
| 15 | g.88858936T>C | CA492287571 | ACAN | c.6351T>C (p.Pro2117=) c.6294T>C (p.Pro2098=) | |
| 15 | g.88858936T>G | CA492287572 | ACAN | c.6351T>G (p.Pro2117=) c.6294T>G (p.Pro2098=) | |
| 15 | g.88858937G>A | CA393727070 | ACAN | c.6352G>A (p.Glu2118Lys) c.6295G>A (p.Glu2099Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.88858937G>C | CA393727069 | ACAN | c.6352G>C (p.Glu2118Gln) c.6295G>C (p.Glu2099Gln) | |
| 15 | g.88858937G= | CA2194343592 | ACAN | c.6352G= (p.Glu2118=) c.6295G= (p.Glu2099=) | |
| 15 | g.88858937G>T | CA393727068 | ACAN | c.6352G>T (p.Glu2118Ter) c.6295G>T (p.Glu2099Ter) | |
| 15 | g.88858938A= | CA2194343593 | ACAN | c.6353A= (p.Glu2118=) c.6296A= (p.Glu2099=) | |
| 15 | g.88858938A>C | CA393727072 | ACAN | c.6353A>C (p.Glu2118Ala) c.6296A>C (p.Glu2099Ala) | |
| 15 | g.88858938A>G | CA7720386 | ACAN | c.6353A>G (p.Glu2118Gly) c.6296A>G (p.Glu2099Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.88858938A>T | CA393727071 | ACAN | c.6353A>T (p.Glu2118Val) c.6296A>T (p.Glu2099Val) | |
| 15 | g.88858939G>A | CA492287574 | ACAN | c.6354G>A (p.Glu2118=) c.6297G>A (p.Glu2099=) | gnomAD v4 |
| 15 | g.88858939G>C | CA393727073 | ACAN | c.6354G>C (p.Glu2118Asp) c.6297G>C (p.Glu2099Asp) | |
| 15 | g.88858939G>T | CA393727074 | ACAN | c.6354G>T (p.Glu2118Asp) c.6297G>T (p.Glu2099Asp) | COSMIC COSMIC |
| 15 | g.88858940G>A | CA393727075 | ACAN | c.6355G>A (p.Ala2119Thr) c.6298G>A (p.Ala2100Thr) | gnomAD v4 |
| 15 | g.88858940G>C | CA393727076 | ACAN | c.6355G>C (p.Ala2119Pro) c.6298G>C (p.Ala2100Pro) | gnomAD v4 |
| 15 | g.88858940G= | CA2194343594 | ACAN | c.6355G= (p.Ala2119=) c.6298G= (p.Ala2100=) | |
| 15 | g.88858940G>T | CA393727077 | ACAN | c.6355G>T (p.Ala2119Ser) c.6298G>T (p.Ala2100Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.88858941C>A | CA393727078 | ACAN | c.6356C>A (p.Ala2119Asp) c.6299C>A (p.Ala2100Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.88858941C= | CA2194343595 | ACAN | c.6356C= (p.Ala2119=) c.6299C= (p.Ala2100=) | |
| 15 | g.88858941C>G | CA393727079 | ACAN | c.6356C>G (p.Ala2119Gly) c.6299C>G (p.Ala2100Gly) | |
| 15 | g.88858941C>T | CA393727080 | ACAN | c.6356C>T (p.Ala2119Val) c.6299C>T (p.Ala2100Val) | |
| 15 | g.88858942C>A | CA492287575 | ACAN | c.6357C>A (p.Ala2119=) c.6300C>A (p.Ala2100=) | |
| 15 | g.88858942C= | CA2194343596 | ACAN | c.6357C= (p.Ala2119=) c.6300C= (p.Ala2100=) | |
| 15 | g.88858942C>G | CA492287576 | ACAN | c.6357C>G (p.Ala2119=) c.6300C>G (p.Ala2100=) | |
| 15 | g.88858942C>T | CA492287578 | ACAN | c.6357C>T (p.Ala2119=) c.6300C>T (p.Ala2100=) | dbSNP |
| 15 | g.88858943A>C | CA393727081 | ACAN | c.6358A>C (p.Ser2120Arg) c.6301A>C (p.Ser2101Arg) | |
| 15 | g.88858943A>G | CA393727082 | ACAN | c.6358A>G (p.Ser2120Gly) c.6301A>G (p.Ser2101Gly) | |
| 15 | g.88858943A>T | CA393727083 | ACAN | c.6358A>T (p.Ser2120Cys) c.6301A>T (p.Ser2101Cys) | |
| 15 | g.88858944G>A | CA393727086 | ACAN | c.6359G>A (p.Ser2120Asn) c.6302G>A (p.Ser2101Asn) | |
| 15 | g.88858944G>C | CA393727084 | ACAN | c.6359G>C (p.Ser2120Thr) c.6302G>C (p.Ser2101Thr) | dbSNP |
| 15 | g.88858944G>T | CA393727085 | ACAN | c.6359G>T (p.Ser2120Ile) c.6302G>T (p.Ser2101Ile) | |
| 15 | g.88858945C>A | CA393727087 | ACAN | c.6360C>A (p.Ser2120Arg) c.6303C>A (p.Ser2101Arg) | gnomAD v4 |
| 15 | g.88858945C= | CA2194343597 | ACAN | c.6360C= (p.Ser2120=) c.6303C= (p.Ser2101=) | |
| 15 | g.88858945C>G | CA7720387 | ACAN | c.6360C>G (p.Ser2120Arg) c.6303C>G (p.Ser2101Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88858945C>T | CA492287582 | ACAN | c.6360C>T (p.Ser2120=) c.6303C>T (p.Ser2101=) | |
| 15 | g.88858946A= | CA2194343598 | ACAN | c.6361A= (p.Arg2121=) c.6304A= (p.Arg2102=) | |
| 15 | g.88858946A>C | CA492287584 | ACAN | c.6361A>C (p.Arg2121=) c.6304A>C (p.Arg2102=) | gnomAD v4 |
| 15 | g.88858946A>G | CA393727088 | ACAN | c.6361A>G (p.Arg2121Gly) c.6304A>G (p.Arg2102Gly) | dbSNP |
| 15 | g.88858946A>T | CA393727089 | ACAN | c.6361A>T (p.Arg2121Ter) c.6304A>T (p.Arg2102Ter) | |
| 15 | g.88858947G>A | CA7720388 | ACAN | c.6362G>A (p.Arg2121Lys) c.6305G>A (p.Arg2102Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.88858947G>C | CA393727090 | ACAN | c.6362G>C (p.Arg2121Thr) c.6305G>C (p.Arg2102Thr) | |
| 15 | g.88858947G= | CA2194343599 | ACAN | c.6362G= (p.Arg2121=) c.6305G= (p.Arg2102=) | |
| 15 | g.88858947G>T | CA393727091 | ACAN | c.6362G>T (p.Arg2121Ile) c.6305G>T (p.Arg2102Ile) | |
| 15 | g.88858948A>C | CA393727092 | ACAN | c.6363A>C (p.Arg2121Ser) c.6306A>C (p.Arg2102Ser) | |
| 15 | g.88858948A>G | CA492287590 | ACAN | c.6363A>G (p.Arg2121=) c.6306A>G (p.Arg2102=) | gnomAD v4 |
| 15 | g.88858948A>T | CA393727093 | ACAN | c.6363A>T (p.Arg2121Ser) c.6306A>T (p.Arg2102Ser) | |
| 15 | g.88858949G>A | CA393727094 | ACAN | c.6364G>A (p.Glu2122Lys) c.6307G>A (p.Glu2103Lys) | |
| 15 | g.88858949G>C | CA7720389 | ACAN | c.6364G>C (p.Glu2122Gln) c.6307G>C (p.Glu2103Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88858949G= | CA2194343600 | ACAN | c.6364G= (p.Glu2122=) c.6307G= (p.Glu2103=) | |
| 15 | g.88858949G>T | CA393727095 | ACAN | c.6364G>T (p.Glu2122Ter) c.6307G>T (p.Glu2103Ter) | |
| 15 | g.88858950A>C | CA393727097 | ACAN | c.6365A>C (p.Glu2122Ala) c.6308A>C (p.Glu2103Ala) | |
| 15 | g.88858950A>G | CA393727098 | ACAN | c.6365A>G (p.Glu2122Gly) c.6308A>G (p.Glu2103Gly) | |
| 15 | g.88858950A>T | CA393727096 | ACAN | c.6365A>T (p.Glu2122Val) c.6308A>T (p.Glu2103Val) | |
| 15 | g.88858951A>C | CA393727099 | ACAN | c.6366A>C (p.Glu2122Asp) c.6309A>C (p.Glu2103Asp) | |
| 15 | g.88858951A>G | CA492287592 | ACAN | c.6366A>G (p.Glu2122=) c.6309A>G (p.Glu2103=) | |
| 15 | g.88858951A>T | CA393727100 | ACAN | c.6366A>T (p.Glu2122Asp) c.6309A>T (p.Glu2103Asp) | |
| 15 | g.88858952G>A | CA393727101 | ACAN | c.6367G>A (p.Asp2123Asn) c.6310G>A (p.Asp2104Asn) | gnomAD v4 |
| 15 | g.88858952G>C | CA393727102 | ACAN | c.6367G>C (p.Asp2123His) c.6310G>C (p.Asp2104His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88858952G= | CA2194343601 | ACAN | c.6367G= (p.Asp2123=) c.6310G= (p.Asp2104=) | |
| 15 | g.88858952G>T | CA393727103 | ACAN | c.6367G>T (p.Asp2123Tyr) c.6310G>T (p.Asp2104Tyr) | dbSNP |
| 15 | g.88858953A>C | CA393727104 | ACAN | c.6368A>C (p.Asp2123Ala) c.6311A>C (p.Asp2104Ala) | |
| 15 | g.88858953A>G | CA393727105 | ACAN | c.6368A>G (p.Asp2123Gly) c.6311A>G (p.Asp2104Gly) | |
| 15 | g.88858953A>T | CA393727106 | ACAN | c.6368A>T (p.Asp2123Val) c.6311A>T (p.Asp2104Val) | |
| 15 | g.88858954T>A | CA393727107 | ACAN | c.6369T>A (p.Asp2123Glu) c.6312T>A (p.Asp2104Glu) | |
| 15 | g.88858954T>C | CA492287593 | ACAN | c.6369T>C (p.Asp2123=) c.6312T>C (p.Asp2104=) | |
| 15 | g.88858954T>G | CA393727108 | ACAN | c.6369T>G (p.Asp2123Glu) c.6312T>G (p.Asp2104Glu) | gnomAD v3 gnomAD v4 |
| 15 | g.88858955T>A | CA393727109 | ACAN | c.6370T>A (p.Ser2124Thr) c.6313T>A (p.Ser2105Thr) | |
| 15 | g.88858955T>C | CA393727110 | ACAN | c.6370T>C (p.Ser2124Pro) c.6313T>C (p.Ser2105Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.88858955T>G | CA393727111 | ACAN | c.6370T>G (p.Ser2124Ala) c.6313T>G (p.Ser2105Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.88858955T= | CA2194343602 | ACAN | c.6370T= (p.Ser2124=) c.6313T= (p.Ser2105=) | |
| 15 | g.88858956C>A | CA393727114 | ACAN | c.6371C>A (p.Ser2124Tyr) c.6314C>A (p.Ser2105Tyr) | |
| 15 | g.88858956C>G | CA393727113 | ACAN | c.6371C>G (p.Ser2124Cys) c.6314C>G (p.Ser2105Cys) | |
| 15 | g.88858956C>T | CA393727112 | ACAN | c.6371C>T (p.Ser2124Phe) c.6314C>T (p.Ser2105Phe) | |
| 15 | g.88858957T>A | CA492287599 | ACAN | c.6372T>A (p.Ser2124=) c.6315T>A (p.Ser2105=) | |
| 15 | g.88858957T>C | CA7720390 | ACAN | c.6372T>C (p.Ser2124=) c.6315T>C (p.Ser2105=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.88858957T>G | CA492287598 | ACAN | c.6372T>G (p.Ser2124=) c.6315T>G (p.Ser2105=) | |
| 15 | g.88858957T= | CA2194343603 | ACAN | c.6372T= (p.Ser2124=) c.6315T= (p.Ser2105=) | |
| 15 | g.88858958G>A | CA393727115 | ACAN | c.6373G>A (p.Gly2125Arg) c.6316G>A (p.Gly2106Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.88858958G>C | CA393727116 | ACAN | c.6373G>C (p.Gly2125Arg) c.6316G>C (p.Gly2106Arg) | |
| 15 | g.88858958G= | CA2194343604 | ACAN | c.6373G= (p.Gly2125=) c.6316G= (p.Gly2106=) | |
| 15 | g.88858958G>T | CA393727117 | ACAN | c.6373G>T (p.Gly2125Trp) c.6316G>T (p.Gly2106Trp) | |
| 15 | g.88858959G>A | CA274485742 | ACAN | c.6374G>A (p.Gly2125Glu) c.6317G>A (p.Gly2106Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.88858959G>C | CA393727118 | ACAN | c.6374G>C (p.Gly2125Ala) c.6317G>C (p.Gly2106Ala) | dbSNP gnomAD v4 |
| 15 | g.88858959G= | CA2194343605 | ACAN | c.6374G= (p.Gly2125=) c.6317G= (p.Gly2106=) | |
| 15 | g.88858959G>T | CA393727119 | ACAN | c.6374G>T (p.Gly2125Val) c.6317G>T (p.Gly2106Val) | |
| 15 | g.88858960G>A | CA492287606 | ACAN | c.6375G>A (p.Gly2125=) c.6318G>A (p.Gly2106=) | |
| 15 | g.88858960G>C | CA492287607 | ACAN | c.6375G>C (p.Gly2125=) c.6318G>C (p.Gly2106=) | |
| 15 | g.88858960G>T | CA492287608 | ACAN | c.6375G>T (p.Gly2125=) c.6318G>T (p.Gly2106=) | |
| 15 | g.88858961T>A | CA393727120 | ACAN | c.6376T>A (p.Ser2126Thr) c.6319T>A (p.Ser2107Thr) | |
| 15 | g.88858961T>C | CA7720391 | ACAN | c.6376T>C (p.Ser2126Pro) c.6319T>C (p.Ser2107Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88858961T>G | CA393727121 | ACAN | c.6376T>G (p.Ser2126Ala) c.6319T>G (p.Ser2107Ala) | |
| 15 | g.88858961T= | CA2194343606 | ACAN | c.6376T= (p.Ser2126=) c.6319T= (p.Ser2107=) | |
| 15 | g.88858962C>A | CA393727122 | ACAN | c.6377C>A (p.Ser2126Tyr) c.6320C>A (p.Ser2107Tyr) | dbSNP |
| 15 | g.88858962C= | CA2194343607 | ACAN | c.6377C= (p.Ser2126=) c.6320C= (p.Ser2107=) | |
| 15 | g.88858962C>G | CA393727123 | ACAN | c.6377C>G (p.Ser2126Cys) c.6320C>G (p.Ser2107Cys) | |
| 15 | g.88858962C>T | CA393727124 | ACAN | c.6377C>T (p.Ser2126Phe) c.6320C>T (p.Ser2107Phe) | gnomAD v4 COSMIC COSMIC |
| 15 | g.88858963C>A | CA492287609 | ACAN | c.6378C>A (p.Ser2126=) c.6321C>A (p.Ser2107=) | gnomAD v4 |
| 15 | g.88858963C>G | CA492287610 | ACAN | c.6378C>G (p.Ser2126=) c.6321C>G (p.Ser2107=) | |
| 15 | g.88858963C>T | CA492287612 | ACAN | c.6378C>T (p.Ser2126=) c.6321C>T (p.Ser2107=) | gnomAD v4 COSMIC COSMIC |
| 15 | g.88858964C>A | CA393727126 | ACAN | c.6379C>A (p.Pro2127Thr) c.6322C>A (p.Pro2108Thr) | |
| 15 | g.88858964C>G | CA393727127 | ACAN | c.6379C>G (p.Pro2127Ala) c.6322C>G (p.Pro2108Ala) | |
| 15 | g.88858964C>T | CA393727125 | ACAN | c.6379C>T (p.Pro2127Ser) c.6322C>T (p.Pro2108Ser) | |
| 15 | g.88858965C>A | CA393727128 | ACAN | c.6380C>A (p.Pro2127His) c.6323C>A (p.Pro2108His) | |
| 15 | g.88858965C>G | CA393727129 | ACAN | c.6380C>G (p.Pro2127Arg) c.6323C>G (p.Pro2108Arg) | |
| 15 | g.88858965C>T | CA393727130 | ACAN | c.6380C>T (p.Pro2127Leu) c.6323C>T (p.Pro2108Leu) | |
| 15 | g.88858966T>A | CA492287617 | ACAN | c.6381T>A (p.Pro2127=) c.6324T>A (p.Pro2108=) | |
| 15 | g.88858966T>C | CA492287618 | ACAN | c.6381T>C (p.Pro2127=) c.6324T>C (p.Pro2108=) | |
| 15 | g.88858966T>G | CA492287619 | ACAN | c.6381T>G (p.Pro2127=) c.6324T>G (p.Pro2108=) | |
| 15 | g.88858967G>A | CA393727131 | ACAN | c.6382G>A (p.Asp2128Asn) c.6325G>A (p.Asp2109Asn) | |
| 15 | g.88858967G>C | CA393727132 | ACAN | c.6382G>C (p.Asp2128His) c.6325G>C (p.Asp2109His) | |
| 15 | g.88858967G>T | CA393727133 | ACAN | c.6382G>T (p.Asp2128Tyr) c.6325G>T (p.Asp2109Tyr) | |
| 15 | g.88858968A>C | CA393727134 | ACAN | c.6383A>C (p.Asp2128Ala) c.6326A>C (p.Asp2109Ala) | |
| 15 | g.88858968A>G | CA393727135 | ACAN | c.6383A>G (p.Asp2128Gly) c.6326A>G (p.Asp2109Gly) | gnomAD v4 |
| 15 | g.88858968A>T | CA393727136 | ACAN | c.6383A>T (p.Asp2128Val) c.6326A>T (p.Asp2109Val) | |
| 15 | g.88858969T>A | CA393727137 | ACAN | c.6384T>A (p.Asp2128Glu) c.6327T>A (p.Asp2109Glu) | |
| 15 | g.88858969T>C | CA492287622 | ACAN | c.6384T>C (p.Asp2128=) c.6327T>C (p.Asp2109=) | |
| 15 | g.88858969T>G | CA393727138 | ACAN | c.6384T>G (p.Asp2128Glu) c.6327T>G (p.Asp2109Glu) | gnomAD v4 |
| 15 | g.88858970C>A | CA393727139 | ACAN | c.6385C>A (p.Leu2129Met) c.6328C>A (p.Leu2110Met) | |
| 15 | g.88858970C= | CA2194343608 | ACAN | c.6385C= (p.Leu2129=) c.6328C= (p.Leu2110=) | |
| 15 | g.88858970C>G | CA7720392 | ACAN | c.6385C>G (p.Leu2129Val) c.6328C>G (p.Leu2110Val) | dbSNP ExAC gnomAD v2 |
| 15 | g.88858970C>T | CA492287623 | ACAN | c.6385C>T (p.Leu2129=) c.6328C>T (p.Leu2110=) | |
| 15 | g.88858971T>A | CA393727140 | ACAN | c.6386T>A (p.Leu2129Gln) c.6329T>A (p.Leu2110Gln) | |
| 15 | g.88858971T>C | CA393727142 | ACAN | c.6386T>C (p.Leu2129Pro) c.6329T>C (p.Leu2110Pro) | |
| 15 | g.88858971T>G | CA393727141 | ACAN | c.6386T>G (p.Leu2129Arg) c.6329T>G (p.Leu2110Arg) | |
| 15 | g.88858972G>A | CA492287625 | ACAN | c.6387G>A (p.Leu2129=) c.6330G>A (p.Leu2110=) | gnomAD v4 |
| 15 | g.88858972G>C | CA492287626 | ACAN | c.6387G>C (p.Leu2129=) c.6330G>C (p.Leu2110=) | gnomAD v4 |
| 15 | g.88858972G>T | CA492287627 | ACAN | c.6387G>T (p.Leu2129=) c.6330G>T (p.Leu2110=) | |
| 15 | g.88858973A>C | CA393727143 | ACAN | c.6388A>C (p.Ser2130Arg) c.6331A>C (p.Ser2111Arg) | |
| 15 | g.88858973A>G | CA393727144 | ACAN | c.6388A>G (p.Ser2130Gly) c.6331A>G (p.Ser2111Gly) | |
| 15 | g.88858973A>T | CA393727145 | ACAN | c.6388A>T (p.Ser2130Cys) c.6331A>T (p.Ser2111Cys) | |
| 15 | g.88858974G>A | CA274485765 | ACAN | c.6389G>A (p.Ser2130Asn) c.6332G>A (p.Ser2111Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.88858974G>C | CA393727146 | ACAN | c.6389G>C (p.Ser2130Thr) c.6332G>C (p.Ser2111Thr) | |
| 15 | g.88858974G= | CA2194343609 | ACAN | c.6389G= (p.Ser2130=) c.6332G= (p.Ser2111=) | |
| 15 | g.88858974G>T | CA393727147 | ACAN | c.6389G>T (p.Ser2130Ile) c.6332G>T (p.Ser2111Ile) | |
| 15 | g.88858975T>A | CA393727148 | ACAN | c.6390T>A (p.Ser2130Arg) c.6333T>A (p.Ser2111Arg) | |
| 15 | g.88858975T>C | CA492287634 | ACAN | c.6390T>C (p.Ser2130=) c.6333T>C (p.Ser2111=) | gnomAD v4 |
| 15 | g.88858975T>G | CA393727149 | ACAN | c.6390T>G (p.Ser2130Arg) c.6333T>G (p.Ser2111Arg) | |
| 15 | g.88858976G>A | CA393727150 | ACAN | c.6391G>A (p.Glu2131Lys) c.6334G>A (p.Glu2112Lys) | |
| 15 | g.88858976G>C | CA393727151 | ACAN | c.6391G>C (p.Glu2131Gln) c.6334G>C (p.Glu2112Gln) | |
| 15 | g.88858976G>T | CA393727152 | ACAN | c.6391G>T (p.Glu2131Ter) c.6334G>T (p.Glu2112Ter) | |
| 15 | g.88858977A>C | CA393727155 | ACAN | c.6392A>C (p.Glu2131Ala) c.6335A>C (p.Glu2112Ala) | |
| 15 | g.88858977A>G | CA393727154 | ACAN | c.6392A>G (p.Glu2131Gly) c.6335A>G (p.Glu2112Gly) | |
| 15 | g.88858977A>T | CA393727153 | ACAN | c.6392A>T (p.Glu2131Val) c.6335A>T (p.Glu2112Val) | |
| 15 | g.88858978A>C | CA393727157 | ACAN | c.6393A>C (p.Glu2131Asp) c.6336A>C (p.Glu2112Asp) | |
| 15 | g.88858978A>G | CA492287637 | ACAN | c.6393A>G (p.Glu2131=) c.6336A>G (p.Glu2112=) | |
| 15 | g.88858978A>T | CA393727156 | ACAN | c.6393A>T (p.Glu2131Asp) c.6336A>T (p.Glu2112Asp) | |
| 15 | g.88858979A>C | CA393727159 | ACAN | c.6394A>C (p.Thr2132Pro) c.6337A>C (p.Thr2113Pro) | |
| 15 | g.88858979A>G | CA393727158 | ACAN | c.6394A>G (p.Thr2132Ala) c.6337A>G (p.Thr2113Ala) | |
| 15 | g.88858979A>T | CA393727160 | ACAN | c.6394A>T (p.Thr2132Ser) c.6337A>T (p.Thr2113Ser) | |
| 15 | g.88858980C>A | CA393727161 | ACAN | c.6395C>A (p.Thr2132Asn) c.6338C>A (p.Thr2113Asn) | |
| 15 | g.88858980C= | CA2194343610 | ACAN | c.6395C= (p.Thr2132=) c.6338C= (p.Thr2113=) | |
| 15 | g.88858980C>G | CA7720393 | ACAN | c.6395C>G (p.Thr2132Ser) c.6338C>G (p.Thr2113Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88858980C>T | CA393727162 | ACAN | c.6395C>T (p.Thr2132Ile) c.6338C>T (p.Thr2113Ile) | gnomAD v4 |
| 15 | g.88858981C>A | CA492287639 | ACAN | c.6396C>A (p.Thr2132=) c.6339C>A (p.Thr2113=) | |
| 15 | g.88858981C>G | CA492287640 | ACAN | c.6396C>G (p.Thr2132=) c.6339C>G (p.Thr2113=) | |
| 15 | g.88858981C>T | CA492287641 | ACAN | c.6396C>T (p.Thr2132=) c.6339C>T (p.Thr2113=) | |
| 15 | g.88858982A>C | CA393727163 | ACAN | c.6397A>C (p.Thr2133Pro) c.6340A>C (p.Thr2114Pro) | |
| 15 | g.88858982A>G | CA393727164 | ACAN | c.6397A>G (p.Thr2133Ala) c.6340A>G (p.Thr2114Ala) | |
| 15 | g.88858982A>T | CA393727165 | ACAN | c.6397A>T (p.Thr2133Ser) c.6340A>T (p.Thr2114Ser) | |
| 15 | g.88858983C>A | CA393727166 | ACAN | c.6398C>A (p.Thr2133Asn) c.6341C>A (p.Thr2114Asn) | gnomAD v4 |
| 15 | g.88858983C>G | CA393727167 | ACAN | c.6398C>G (p.Thr2133Ser) c.6341C>G (p.Thr2114Ser) | |
| 15 | g.88858983C>T | CA393727168 | ACAN | c.6398C>T (p.Thr2133Ile) c.6341C>T (p.Thr2114Ile) | gnomAD v4 |
| 15 | g.88858984C>A | CA492287647 | ACAN | c.6399C>A (p.Thr2133=) c.6342C>A (p.Thr2114=) | |
| 15 | g.88858984C= | CA2194343611 | ACAN | c.6399C= (p.Thr2133=) c.6342C= (p.Thr2114=) | |
| 15 | g.88858984C>G | CA492287648 | ACAN | c.6399C>G (p.Thr2133=) c.6342C>G (p.Thr2114=) | |
| 15 | g.88858984C>T | CA7720394 | ACAN | c.6399C>T (p.Thr2133=) c.6342C>T (p.Thr2114=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88858985T>A | CA393727169 | ACAN | c.6400T>A (p.Ser2134Thr) c.6343T>A (p.Ser2115Thr) | |
| 15 | g.88858985T>C | CA393727170 | ACAN | c.6400T>C (p.Ser2134Pro) c.6343T>C (p.Ser2115Pro) | |
| 15 | g.88858985T>G | CA393727171 | ACAN | c.6400T>G (p.Ser2134Ala) c.6343T>G (p.Ser2115Ala) | |
| 15 | g.88858986C>A | CA393727174 | ACAN | c.6401C>A (p.Ser2134Tyr) c.6344C>A (p.Ser2115Tyr) | dbSNP |
| 15 | g.88858986C>G | CA393727172 | ACAN | c.6401C>G (p.Ser2134Cys) c.6344C>G (p.Ser2115Cys) | |
| 15 | g.88858986C>T | CA393727173 | ACAN | c.6401C>T (p.Ser2134Phe) c.6344C>T (p.Ser2115Phe) | |
| 15 | g.88858987T>A | CA492287652 | ACAN | c.6402T>A (p.Ser2134=) c.6345T>A (p.Ser2115=) | |
| 15 | g.88858987T>C | CA492287654 | ACAN | c.6402T>C (p.Ser2134=) c.6345T>C (p.Ser2115=) | |
| 15 | g.88858987T>G | CA492287650 | ACAN | c.6402T>G (p.Ser2134=) c.6345T>G (p.Ser2115=) | gnomAD v4 |
| 15 | g.88858988G>A | CA393727175 | ACAN | c.6403G>A (p.Ala2135Thr) c.6346G>A (p.Ala2116Thr) | |
| 15 | g.88858988G>C | CA393727176 | ACAN | c.6403G>C (p.Ala2135Pro) c.6346G>C (p.Ala2116Pro) | |
| 15 | g.88858988G= | CA2194343612 | ACAN | c.6403G= (p.Ala2135=) c.6346G= (p.Ala2116=) | |
| 15 | g.88858988G>T | CA393727177 | ACAN | c.6403G>T (p.Ala2135Ser) c.6346G>T (p.Ala2116Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.88858989del | CA2695221065 | ACAN | c.6404del (p.Ala2135AspfsTer13) c.6347del (p.Ala2116AspfsTer13) | |
| 15 | g.88858989C>A | CA393727178 | ACAN | c.6404C>A (p.Ala2135Glu) c.6347C>A (p.Ala2116Glu) | |
| 15 | g.88858989C>G | CA393727179 | ACAN | c.6404C>G (p.Ala2135Gly) c.6347C>G (p.Ala2116Gly) | |
| 15 | g.88858989C>T | CA393727180 | ACAN | c.6404C>T (p.Ala2135Val) c.6347C>T (p.Ala2116Val) | |
| 15 | g.88858990A= | CA2194343613 | ACAN | c.6405A= (p.Ala2135=) c.6348A= (p.Ala2116=) | |
| 15 | g.88858990A>C | CA492287656 | ACAN | c.6405A>C (p.Ala2135=) c.6348A>C (p.Ala2116=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.88858990A>G | CA492287657 | ACAN | c.6405A>G (p.Ala2135=) c.6348A>G (p.Ala2116=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.88858990A>T | CA492287658 | ACAN | c.6405A>T (p.Ala2135=) c.6348A>T (p.Ala2116=) | |
| 15 | g.88858991T>A | CA393727181 | ACAN | c.6406T>A (p.Phe2136Ile) c.6349T>A (p.Phe2117Ile) | |
| 15 | g.88858991T>C | CA393727182 | ACAN | c.6406T>C (p.Phe2136Leu) c.6349T>C (p.Phe2117Leu) | gnomAD v4 |
| 15 | g.88858991T>G | CA393727183 | ACAN | c.6406T>G (p.Phe2136Val) c.6349T>G (p.Phe2117Val) | |
| 15 | g.88858992T>A | CA393727184 | ACAN | c.6407T>A (p.Phe2136Tyr) c.6350T>A (p.Phe2117Tyr) | |
| 15 | g.88858992T>C | CA393727185 | ACAN | c.6407T>C (p.Phe2136Ser) c.6350T>C (p.Phe2117Ser) | |
| 15 | g.88858992T>G | CA393727186 | ACAN | c.6407T>G (p.Phe2136Cys) c.6350T>G (p.Phe2117Cys) | |
| 15 | g.88858993C>A | CA393727187 | ACAN | c.6408C>A (p.Phe2136Leu) c.6351C>A (p.Phe2117Leu) | |
| 15 | g.88858993C= | CA2194343614 | ACAN | c.6408C= (p.Phe2136=) c.6351C= (p.Phe2117=) | |
| 15 | g.88858993C>G | CA393727188 | ACAN | c.6408C>G (p.Phe2136Leu) c.6351C>G (p.Phe2117Leu) | |
| 15 | g.88858993C>T | CA7720395 | ACAN | c.6408C>T (p.Phe2136=) c.6351C>T (p.Phe2117=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.88858994C>A | CA393727189 | ACAN | c.6409C>A (p.His2137Asn) c.6352C>A (p.His2118Asn) | |
| 15 | g.88858994C>G | CA393727190 | ACAN | c.6409C>G (p.His2137Asp) c.6352C>G (p.His2118Asp) | |
| 15 | g.88858994C>T | CA393727191 | ACAN | c.6409C>T (p.His2137Tyr) c.6352C>T (p.His2118Tyr) | |
| 15 | g.88858995A>C | CA393727192 | ACAN | c.6410A>C (p.His2137Pro) c.6353A>C (p.His2118Pro) | |
| 15 | g.88858995A>G | CA393727193 | ACAN | c.6410A>G (p.His2137Arg) c.6353A>G (p.His2118Arg) | |
| 15 | g.88858995A>T | CA393727194 | ACAN | c.6410A>T (p.His2137Leu) c.6353A>T (p.His2118Leu) | |
| 15 | g.88858996del | CA2630219532 | ACAN | c.6411del (p.His2137GlnfsTer11) c.6354del (p.His2118GlnfsTer11) | gnomAD v4 |
| 15 | g.88858996C>A | CA393727195 | ACAN | c.6411C>A (p.His2137Gln) c.6354C>A (p.His2118Gln) | |
| 15 | g.88858996C= | CA2194343615 | ACAN | c.6411C= (p.His2137=) c.6354C= (p.His2118=) | |
| 15 | g.88858996C>G | CA393727196 | ACAN | c.6411C>G (p.His2137Gln) c.6354C>G (p.His2118Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.88858996C>T | CA7720396 | ACAN | c.6411C>T (p.His2137=) c.6354C>T (p.His2118=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88858997G>A | CA7720397 | ACAN | c.6412G>A (p.Glu2138Lys) c.6355G>A (p.Glu2119Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.88858997G>C | CA393727197 | ACAN | c.6412G>C (p.Glu2138Gln) c.6355G>C (p.Glu2119Gln) | |
| 15 | g.88858997G= | CA2194343616 | ACAN | c.6412G= (p.Glu2138=) c.6355G= (p.Glu2119=) | |
| 15 | g.88858997G>T | CA393727198 | ACAN | c.6412G>T (p.Glu2138Ter) c.6355G>T (p.Glu2119Ter) | |
| 15 | g.88858998A>C | CA393727201 | ACAN | c.6413A>C (p.Glu2138Ala) c.6356A>C (p.Glu2119Ala) | |
| 15 | g.88858998A>G | CA393727199 | ACAN | c.6413A>G (p.Glu2138Gly) c.6356A>G (p.Glu2119Gly) | |
| 15 | g.88858998A>T | CA393727200 | ACAN | c.6413A>T (p.Glu2138Val) c.6356A>T (p.Glu2119Val) | |
| 15 | g.88858999A>C | CA393727202 | ACAN | c.6414A>C (p.Glu2138Asp) c.6357A>C (p.Glu2119Asp) | |
| 15 | g.88858999A>G | CA492287667 | ACAN | c.6414A>G (p.Glu2138=) c.6357A>G (p.Glu2119=) | gnomAD v4 |
| 15 | g.88858999A>T | CA393727203 | ACAN | c.6414A>T (p.Glu2138Asp) c.6357A>T (p.Glu2119Asp) | |
| 15 | g.88859000G>A | CA393727204 | ACAN | c.6415G>A (p.Ala2139Thr) c.6358G>A (p.Ala2120Thr) | |
| 15 | g.88859000G>C | CA393727205 | ACAN | c.6415G>C (p.Ala2139Pro) c.6358G>C (p.Ala2120Pro) | dbSNP |
| 15 | g.88859000G= | CA2194343617 | ACAN | c.6415G= (p.Ala2139=) c.6358G= (p.Ala2120=) | |
| 15 | g.88859000G>T | CA393727206 | ACAN | c.6415G>T (p.Ala2139Ser) c.6358G>T (p.Ala2120Ser) | |
| 15 | g.88859001C>A | CA393727207 | ACAN | c.6416C>A (p.Ala2139Asp) c.6359C>A (p.Ala2120Asp) | |
| 15 | g.88859001C>G | CA393727208 | ACAN | c.6416C>G (p.Ala2139Gly) c.6359C>G (p.Ala2120Gly) | |
| 15 | g.88859001C>T | CA393727209 | ACAN | c.6416C>T (p.Ala2139Val) c.6359C>T (p.Ala2120Val) | |
| 15 | g.88859002T>A | CA492287673 | ACAN | c.6417T>A (p.Ala2139=) c.6360T>A (p.Ala2120=) | |
| 15 | g.88859002T>C | CA492287674 | ACAN | c.6417T>C (p.Ala2139=) c.6360T>C (p.Ala2120=) | |
| 15 | g.88859002T>G | CA492287672 | ACAN | c.6417T>G (p.Ala2139=) c.6360T>G (p.Ala2120=) | |
| 15 | g.88859003A>C | CA393727210 | ACAN | c.6418A>C (p.Asn2140His) c.6361A>C (p.Asn2121His) | gnomAD v4 |
| 15 | g.88859003A>G | CA393727211 | ACAN | c.6418A>G (p.Asn2140Asp) c.6361A>G (p.Asn2121Asp) | dbSNP |
| 15 | g.88859003A>T | CA393727212 | ACAN | c.6418A>T (p.Asn2140Tyr) c.6361A>T (p.Asn2121Tyr) | |
| 15 | g.88859004A>C | CA393727214 | ACAN | c.6419A>C (p.Asn2140Thr) c.6362A>C (p.Asn2121Thr) | |
| 15 | g.88859004A>G | CA393727215 | ACAN | c.6419A>G (p.Asn2140Ser) c.6362A>G (p.Asn2121Ser) | |
| 15 | g.88859004A>T | CA393727213 | ACAN | c.6419A>T (p.Asn2140Ile) c.6362A>T (p.Asn2121Ile) | |
| 15 | g.88859005C>A | CA393727217 | ACAN | c.6420C>A (p.Asn2140Lys) c.6363C>A (p.Asn2121Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.88859005C= | CA2194343618 | ACAN | c.6420C= (p.Asn2140=) c.6363C= (p.Asn2121=) | |
| 15 | g.88859005C>G | CA393727216 | ACAN | c.6420C>G (p.Asn2140Lys) c.6363C>G (p.Asn2121Lys) | |
| 15 | g.88859005C>T | CA7720398 | ACAN | c.6420C>T (p.Asn2140=) c.6363C>T (p.Asn2121=) | dbSNP ExAC gnomAD v2 |
| 15 | g.88859006C>A | CA393727218 | ACAN | c.6421C>A (p.Leu2141Ile) c.6364C>A (p.Leu2122Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.88859006C= | CA2194343619 | ACAN | c.6421C= (p.Leu2141=) c.6364C= (p.Leu2122=) | |
| 15 | g.88859006C>G | CA393727219 | ACAN | c.6421C>G (p.Leu2141Val) c.6364C>G (p.Leu2122Val) | |
| 15 | g.88859006C>T | CA393727220 | ACAN | c.6421C>T (p.Leu2141Phe) c.6364C>T (p.Leu2122Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88859007T>A | CA393727221 | ACAN | c.6422T>A (p.Leu2141His) c.6365T>A (p.Leu2122His) | |
| 15 | g.88859007T>C | CA393727222 | ACAN | c.6422T>C (p.Leu2141Pro) c.6365T>C (p.Leu2122Pro) | |
| 15 | g.88859007T>G | CA393727223 | ACAN | c.6422T>G (p.Leu2141Arg) c.6365T>G (p.Leu2122Arg) | |
| 15 | g.88859008T>A | CA492287681 | ACAN | c.6423T>A (p.Leu2141=) c.6366T>A (p.Leu2122=) | dbSNP |
| 15 | g.88859008T>C | CA7720399 | ACAN | c.6423T>C (p.Leu2141=) c.6366T>C (p.Leu2122=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88859008T>G | CA492287680 | ACAN | c.6423T>G (p.Leu2141=) c.6366T>G (p.Leu2122=) | |
| 15 | g.88859008T= | CA2194343620 | ACAN | c.6423T= (p.Leu2141=) c.6366T= (p.Leu2122=) | |
| 15 | g.88859009G>A | CA7720400 | ACAN | c.6424G>A (p.Glu2142Lys) c.6367G>A (p.Glu2123Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88859009G>C | CA393727224 | ACAN | c.6424G>C (p.Glu2142Gln) c.6367G>C (p.Glu2123Gln) | |
| 15 | g.88859009G= | CA2194343621 | ACAN | c.6424G= (p.Glu2142=) c.6367G= (p.Glu2123=) | |
| 15 | g.88859009G>T | CA393727225 | ACAN | c.6424G>T (p.Glu2142Ter) c.6367G>T (p.Glu2123Ter) | |
| 15 | g.88859010A>C | CA393727228 | ACAN | c.6425A>C (p.Glu2142Ala) c.6368A>C (p.Glu2123Ala) | |
| 15 | g.88859010A>G | CA393727226 | ACAN | c.6425A>G (p.Glu2142Gly) c.6368A>G (p.Glu2123Gly) | |
| 15 | g.88859010A>T | CA393727227 | ACAN | c.6425A>T (p.Glu2142Val) c.6368A>T (p.Glu2123Val) | |
| 15 | g.88859011G>A | CA492287688 | ACAN | c.6426G>A (p.Glu2142=) c.6369G>A (p.Glu2123=) | dbSNP |
| 15 | g.88859011G>C | CA393727229 | ACAN | c.6426G>C (p.Glu2142Asp) c.6369G>C (p.Glu2123Asp) | |
| 15 | g.88859011G= | CA2194343622 | ACAN | c.6426G= (p.Glu2142=) c.6369G= (p.Glu2123=) | |
| 15 | g.88859011G>T | CA393727230 | ACAN | c.6426G>T (p.Glu2142Asp) c.6369G>T (p.Glu2123Asp) | |
| 15 | g.88859012A= | CA2194343623 | ACAN | c.6427A= (p.Arg2143=) c.6370A= (p.Arg2124=) | |
| 15 | g.88859012A>C | CA492287689 | ACAN | c.6427A>C (p.Arg2143=) c.6370A>C (p.Arg2124=) | |
| 15 | g.88859012A>G | CA274485830 | ACAN | c.6427A>G (p.Arg2143Gly) c.6370A>G (p.Arg2124Gly) | dbSNP |
| 15 | g.88859012A>T | CA393727231 | ACAN | c.6427A>T (p.Arg2143Ter) c.6370A>T (p.Arg2124Ter) | |
| 15 | g.88859013G>A | CA393727232 | ACAN | c.6428G>A (p.Arg2143Lys) c.6371G>A (p.Arg2124Lys) | |
| 15 | g.88859013G>C | CA393727233 | ACAN | c.6428G>C (p.Arg2143Thr) c.6371G>C (p.Arg2124Thr) | |
| 15 | g.88859013G>T | CA393727234 | ACAN | c.6428G>T (p.Arg2143Ile) c.6371G>T (p.Arg2124Ile) | |
| 15 | g.88859014A>C | CA393727235 | ACAN | c.6429A>C (p.Arg2143Ser) c.6372A>C (p.Arg2124Ser) | |
| 15 | g.88859014A>G | CA492287693 | ACAN | c.6429A>G (p.Arg2143=) c.6372A>G (p.Arg2124=) | |
| 15 | g.88859014A>T | CA393727236 | ACAN | c.6429A>T (p.Arg2143Ser) c.6372A>T (p.Arg2124Ser) | |
| 15 | g.88859015T>A | CA393727237 | ACAN | c.6430T>A (p.Ser2144Thr) c.6373T>A (p.Ser2125Thr) | |
| 15 | g.88859015T>C | CA393727238 | ACAN | c.6430T>C (p.Ser2144Pro) c.6373T>C (p.Ser2125Pro) | |
| 15 | g.88859015T>G | CA393727239 | ACAN | c.6430T>G (p.Ser2144Ala) c.6373T>G (p.Ser2125Ala) | |
| 15 | g.88859016C>A | CA393727241 | ACAN | c.6431C>A (p.Ser2144Tyr) c.6374C>A (p.Ser2125Tyr) | |
| 15 | g.88859016C= | CA2194343624 | ACAN | c.6431C= (p.Ser2144=) c.6374C= (p.Ser2125=) | |
| 15 | g.88859016C>G | CA393727242 | ACAN | c.6431C>G (p.Ser2144Cys) c.6374C>G (p.Ser2125Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.88859016C>T | CA393727240 | ACAN | c.6431C>T (p.Ser2144Phe) c.6374C>T (p.Ser2125Phe) | dbSNP COSMIC COSMIC |
| 15 | g.88859017C>A | CA492287695 | ACAN | c.6432C>A (p.Ser2144=) c.6375C>A (p.Ser2125=) | |
| 15 | g.88859017C= | CA2194343625 | ACAN | c.6432C= (p.Ser2144=) c.6375C= (p.Ser2125=) | |
| 15 | g.88859017C>G | CA492287697 | ACAN | c.6432C>G (p.Ser2144=) c.6375C>G (p.Ser2125=) | |
| 15 | g.88859017C>T | CA492287698 | ACAN | c.6432C>T (p.Ser2144=) c.6375C>T (p.Ser2125=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.88859018T>A | CA393727243 | ACAN | c.6433T>A (p.Ser2145Thr) c.6376T>A (p.Ser2126Thr) | |
| 15 | g.88859018T>C | CA393727244 | ACAN | c.6433T>C (p.Ser2145Pro) c.6376T>C (p.Ser2126Pro) | |
| 15 | g.88859018T>G | CA393727245 | ACAN | c.6433T>G (p.Ser2145Ala) c.6376T>G (p.Ser2126Ala) | |
| 15 | g.88859019C>A | CA393727246 | ACAN | c.6434C>A (p.Ser2145Tyr) c.6377C>A (p.Ser2126Tyr) | |
| 15 | g.88859019C= | CA2194343626 | ACAN | c.6434C= (p.Ser2145=) c.6377C= (p.Ser2126=) | |
| 15 | g.88859019C>G | CA393727247 | ACAN | c.6434C>G (p.Ser2145Cys) c.6377C>G (p.Ser2126Cys) | gnomAD v4 |
| 15 | g.88859019C>T | CA7720401 | ACAN | c.6434C>T (p.Ser2145Phe) c.6377C>T (p.Ser2126Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.88859020T>A | CA492287701 | ACAN | c.6435T>A (p.Ser2145=) c.6378T>A (p.Ser2126=) | |
| 15 | g.88859020T>C | CA7720402 | ACAN | c.6435T>C (p.Ser2145=) c.6378T>C (p.Ser2126=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88859020T>G | CA492287702 | ACAN | c.6435T>G (p.Ser2145=) c.6378T>G (p.Ser2126=) | |
| 15 | g.88859020T= | CA2194343627 | ACAN | c.6435T= (p.Ser2145=) c.6378T= (p.Ser2126=) | |
| 15 | g.88859021G>A | CA393727248 | ACAN | c.6436G>A (p.Gly2146Ser) c.6379G>A (p.Gly2127Ser) | dbSNP |
| 15 | g.88859021G>C | CA393727249 | ACAN | c.6436G>C (p.Gly2146Arg) c.6379G>C (p.Gly2127Arg) | |
| 15 | g.88859021G= | CA2194343628 | ACAN | c.6436G= (p.Gly2146=) c.6379G= (p.Gly2127=) | |
| 15 | g.88859021G>T | CA393727250 | ACAN | c.6436G>T (p.Gly2146Cys) c.6379G>T (p.Gly2127Cys) | |
| 15 | g.88859022G>A | CA393727251 | ACAN | c.6437G>A (p.Gly2146Asp) c.6380G>A (p.Gly2127Asp) | |
| 15 | g.88859022G>C | CA393727252 | ACAN | c.6437G>C (p.Gly2146Ala) c.6380G>C (p.Gly2127Ala) | |
| 15 | g.88859022G= | CA2194343629 | ACAN | c.6437G= (p.Gly2146=) c.6380G= (p.Gly2127=) | |
| 15 | g.88859022G>T | CA393727253 | ACAN | c.6437G>T (p.Gly2146Val) c.6380G>T (p.Gly2127Val) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.88859023C>A | CA492287707 | ACAN | c.6438C>A (p.Gly2146=) c.6381C>A (p.Gly2127=) | |
| 15 | g.88859023C>G | CA492287708 | ACAN | c.6438C>G (p.Gly2146=) c.6381C>G (p.Gly2127=) | |
| 15 | g.88859023C>T | CA492287709 | ACAN | c.6438C>T (p.Gly2146=) c.6381C>T (p.Gly2127=) | |
| 15 | g.88859024C>A | CA393727255 | ACAN | c.6439C>A (p.Leu2147Ile) c.6382C>A (p.Leu2128Ile) | |
| 15 | g.88859024C>G | CA393727254 | ACAN | c.6439C>G (p.Leu2147Val) c.6382C>G (p.Leu2128Val) | gnomAD v4 |
| 15 | g.88859024C>T | CA492287710 | ACAN | c.6439C>T (p.Leu2147=) c.6382C>T (p.Leu2128=) |