| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.55248613C>A | CA3863423 | HCRTR2 | c.224-26C>A (n.224-26C>A) c.29-26C>A (n.29-26C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.55248613C= | CA2581586443 | HCRTR2 | c.224-26C= (n.224-26C=) c.29-26C= (n.29-26C=) | |
| 6 | g.55248613C>G | CA2581586444 | HCRTR2 | c.224-26C>G (n.224-26C>G) c.29-26C>G (n.29-26C>G) | gnomAD v4 |
| 6 | g.55248613C>T | CA567639511 | HCRTR2 | c.224-26C>T (n.224-26C>T) c.29-26C>T (n.29-26C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.55248613_55248614insTATTTTCTTTGTTGAGTGA | CA2679182214 | HCRTR2 | c.224-26_224-25insTATTTTCTTTGTTGAGTGA (n.224-26_224-25insTATTTTCTTTGTTGAGTGA) c.29-26_29-25insTATTTTCTTTGTTGAGTGA (n.29-26_29-25insTATTTTCTTTGTTGAGTGA) | gnomAD v4 |
| 6 | g.55248613_55248614insTATTCCTTTTTCTTTGTTGAGTGA | CA2679182213 | HCRTR2 | c.224-26_224-25insTATTCCTTTTTCTTTGTTGAGTGA (n.224-26_224-25insTATTCCTTTTTCTTTGTTGAGTGA) c.29-26_29-25insTATTCCTTTTTCTTTGTTGAGTGA (n.29-26_29-25insTATTCCTTTTTCTTTGTTGAGTGA) | gnomAD v4 |
| 6 | g.55248614C>A | CA2679182215 | HCRTR2 | c.224-25C>A (n.224-25C>A) c.29-25C>A (n.29-25C>A) | gnomAD v4 |
| 6 | g.55248614C>T | CA3863424 | HCRTR2 | c.224-25C>T (n.224-25C>T) c.29-25C>T (n.29-25C>T) | dbSNP ExAC gnomAD v2 |
| 6 | g.55248615T>C | CA2711487269 | HCRTR2 | c.224-24T>C (n.224-24T>C) c.29-24T>C (n.29-24T>C) | dbSNP |
| 6 | g.55248615T>G | CA139607827 | HCRTR2 | c.224-24T>G (n.224-24T>G) c.29-24T>G (n.29-24T>G) | dbSNP gnomAD v4 |
| 6 | g.55248616A>C | CA2679182216 | HCRTR2 | c.224-23A>C (n.224-23A>C) c.29-23A>C (n.29-23A>C) | dbSNP gnomAD v4 |
| 6 | g.55248616A>G | CA3863425 | HCRTR2 | c.224-23A>G (n.224-23A>G) c.29-23A>G (n.29-23A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.55248617T>C | CA2679182217 | HCRTR2 | c.224-22T>C (n.224-22T>C) c.29-22T>C (n.29-22T>C) | gnomAD v4 |
| 6 | g.55248619C>A | CA2679182218 | HCRTR2 | c.224-20C>A (n.224-20C>A) c.29-20C>A (n.29-20C>A) | gnomAD v4 |
| 6 | g.55248619C>T | CA3863426 | HCRTR2 | c.224-20C>T (n.224-20C>T) c.29-20C>T (n.29-20C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.55248620C>T | CA567639512 | HCRTR2 | c.224-19C>T (n.224-19C>T) c.29-19C>T (n.29-19C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.55248621T>C | CA2679182220 | HCRTR2 | c.224-18T>C (n.224-18T>C) c.29-18T>C (n.29-18T>C) | gnomAD v4 |
| 6 | g.55248625del | CA2679182219 | HCRTR2 | c.224-14del (n.224-14del) c.29-14del (n.29-14del) | gnomAD v4 |
| 6 | g.55248624T>C | CA3863427 | HCRTR2 | c.224-15T>C (n.224-15T>C) c.29-15T>C (n.29-15T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.55248625T>C | CA3863428 | HCRTR2 | c.224-14T>C (n.224-14T>C) c.29-14T>C (n.29-14T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.55248626del | CA917753334 | HCRTR2 | c.224-13del (n.224-13del) c.29-13del (n.29-13del) | dbSNP gnomAD v4 |
| 6 | g.55248626C>T | CA139607828 | HCRTR2 | c.224-13C>T (n.224-13C>T) c.29-13C>T (n.29-13C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.55248627T>A | CA2679182222 | HCRTR2 | c.224-12T>A (n.224-12T>A) c.29-12T>A (n.29-12T>A) | gnomAD v4 |
| 6 | g.55248627T>C | CA2578651944 | HCRTR2 | c.224-12T>C (n.224-12T>C) c.29-12T>C (n.29-12T>C) | gnomAD v4 |
| 6 | g.55248630del | CA2679182221 | HCRTR2 | c.224-9del (n.224-9del) c.29-9del (n.29-9del) | gnomAD v4 |
| 6 | g.55248628T>C | CA2679182223 | HCRTR2 | c.224-11T>C (n.224-11T>C) c.29-11T>C (n.29-11T>C) | gnomAD v4 |
| 6 | g.55248628T>G | CA3863429 | HCRTR2 | c.224-11T>G (n.224-11T>G) c.29-11T>G (n.29-11T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.55248629T>C | CA2679182224 | HCRTR2 | c.224-10T>C (n.224-10T>C) c.29-10T>C (n.29-10T>C) | gnomAD v4 |
| 6 | g.55248631C>G | CA139607829 | HCRTR2 | c.224-8C>G (n.224-8C>G) c.29-8C>G (n.29-8C>G) | dbSNP |
| 6 | g.55248631_55248634del | CA567639513 | HCRTR2 | c.224-8_224-5del (n.224-8_224-5del) c.29-8_29-5del (n.29-8_29-5del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.55248632A>C | CA2679182225 | HCRTR2 | c.224-7A>C (n.224-7A>C) c.29-7A>C (n.29-7A>C) | gnomAD v4 |
| 6 | g.55248632A>T | CA1089223043 | HCRTR2 | c.224-7A>T (n.224-7A>T) c.29-7A>T (n.29-7A>T) | gnomAD v3 gnomAD v4 |
| 6 | g.55248633A>C | CA2711484599 | HCRTR2 | c.224-6A>C (n.224-6A>C) c.29-6A>C (n.29-6A>C) | dbSNP |
| 6 | g.55248633A>G | CA3863430 | HCRTR2 | c.224-6A>G (n.224-6A>G) c.29-6A>G (n.29-6A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.55248634A>G | CA2679182226 | HCRTR2 | c.224-5A>G (n.224-5A>G) c.29-5A>G (n.29-5A>G) | gnomAD v4 |
| 6 | g.55248635T>A | CA2578651945 | HCRTR2 | c.224-4T>A (n.224-4T>A) c.29-4T>A (n.29-4T>A) | gnomAD v4 |
| 6 | g.55248635T>C | CA567639515 | HCRTR2 | c.224-4T>C (n.224-4T>C) c.29-4T>C (n.29-4T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.55248636_55248637insTTTT | CA567639514 | HCRTR2 | c.224-3_224-2insTTTT (n.224-3_224-2insTTTT) c.29-3_29-2insTTTT (n.29-3_29-2insTTTT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.55248637A>C | CA364609011 | HCRTR2 | c.224-2A>C (n.224-2A>C) c.29-2A>C (n.29-2A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.55248637A>G | CA364609012 | HCRTR2 | c.224-2A>G (n.224-2A>G) c.29-2A>G (n.29-2A>G) | |
| 6 | g.55248637A>T | CA364609013 | HCRTR2 | c.224-2A>T (n.224-2A>T) c.29-2A>T (n.29-2A>T) | gnomAD v3 gnomAD v4 |
| 6 | g.55248638G>A | CA364609016 | HCRTR2 | c.224-1G>A (n.224-1G>A) c.29-1G>A (n.29-1G>A) | COSMIC |
| 6 | g.55248638G>C | CA364609015 | HCRTR2 | c.224-1G>C (n.224-1G>C) c.29-1G>C (n.29-1G>C) | dbSNP gnomAD v2 |
| 6 | g.55248638G>T | CA364609014 | HCRTR2 | c.224-1G>T (n.224-1G>T) c.29-1G>T (n.29-1G>T) | gnomAD v3 gnomAD v4 |
| 6 | g.55248639T>A | CA364609017 | HCRTR2 | c.224T>A (p.Val75Asp) c.29T>A (p.Val10Asp) | |
| 6 | g.55248639T>C | CA364609018 | HCRTR2 | c.224T>C (p.Val75Ala) c.29T>C (p.Val10Ala) | |
| 6 | g.55248639T>G | CA364609019 | HCRTR2 | c.224T>G (p.Val75Gly) c.29T>G (p.Val10Gly) | |
| 6 | g.55248640T>A | CA450593414 | HCRTR2 | c.225T>A (p.Val75=) c.30T>A (p.Val10=) | |
| 6 | g.55248640T>C | CA3863431 | HCRTR2 | c.225T>C (p.Val75=) c.30T>C (p.Val10=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.55248640T>G | CA450593415 | HCRTR2 | c.225T>G (p.Val75=) c.30T>G (p.Val10=) |