Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.44160312_44160323del | CA2652956604 | JPH2 | c.469_480del (p.Ser157_Arg160del) | gnomAD v4 |
20 | g.44160309_44160333del | CA2577404050 | JPH2 | c.456_480del (p.Val153ArgfsTer?) | |
20 | g.44160309_44160337del | CA2652956609 | JPH2 | c.451_479del (p.Met151HisfsTer?) | gnomAD v4 |
20 | g.44160313C>A | CA510739219 | JPH2 | c.474G>T (p.Pro158=) | gnomAD v4 |
20 | g.44160313C>G | CA510739220 | JPH2 | c.474G>C (p.Pro158=) | |
20 | g.44160313C>T | CA510739221 | JPH2 | c.474G>A (p.Pro158=) | gnomAD v4 |
20 | g.44160314G>A | CA409094309 | JPH2 | c.473C>T (p.Pro158Leu) | ClinVar dbSNP gnomAD v4 |
20 | g.44160314G>C | CA409094310 | JPH2 | c.473C>G (p.Pro158Arg) | |
20 | g.44160314G= | CA2365647844 | JPH2 | c.473C= (p.Pro158=) | |
20 | g.44160314G>T | CA409094311 | JPH2 | c.473C>A (p.Pro158Gln) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.44160315G>A | CA409094313 | JPH2 | c.472C>T (p.Pro158Ser) | |
20 | g.44160315G>C | CA409094314 | JPH2 | c.472C>G (p.Pro158Ala) | |
20 | g.44160315G>T | CA409094312 | JPH2 | c.472C>A (p.Pro158Thr) | |
20 | g.44160316C>A | CA510739222 | JPH2 | c.471G>T (p.Ser157=) | gnomAD v4 |
20 | g.44160316C= | CA2365647845 | JPH2 | c.471G= (p.Ser157=) | |
20 | g.44160316C>G | CA510739223 | JPH2 | c.471G>C (p.Ser157=) | |
20 | g.44160316C>T | CA510739224 | JPH2 | c.471G>A (p.Ser157=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.44160317_44160325del | CA2652956617 | JPH2 | c.463_471del (p.Val155_Ser157del) | gnomAD v4 |
20 | g.44160317G>A | CA9868835 | JPH2 | c.470C>T (p.Ser157Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
20 | g.44160317G>C | CA409094315 | JPH2 | c.470C>G (p.Ser157Trp) | |
20 | g.44160317G= | CA2365647846 | JPH2 | c.470C= (p.Ser157=) | |
20 | g.44160317G>T | CA409094316 | JPH2 | c.470C>A (p.Ser157Ter) | gnomAD v4 |
20 | g.44160318A>C | CA409094317 | JPH2 | c.469T>G (p.Ser157Ala) | |
20 | g.44160318A>G | CA409094318 | JPH2 | c.469T>C (p.Ser157Pro) | |
20 | g.44160318A>T | CA409094319 | JPH2 | c.469T>A (p.Ser157Thr) | |
20 | g.44160319G>A | CA510739225 | JPH2 | c.468C>T (p.Arg156=) | gnomAD v4 |
20 | g.44160319G>C | CA314629799 | JPH2 | c.468C>G (p.Arg156=) | ClinVar dbSNP gnomAD v4 |
20 | g.44160319G= | CA2365647847 | JPH2 | c.468C= (p.Arg156=) | |
20 | g.44160319G>T | CA510739226 | JPH2 | c.468C>A (p.Arg156=) | gnomAD v4 |
20 | g.44160320C>A | CA409094320 | JPH2 | c.467G>T (p.Arg156Leu) | gnomAD v4 |
20 | g.44160320C= | CA2365647848 | JPH2 | c.467G= (p.Arg156=) | |
20 | g.44160320C>G | CA409094321 | JPH2 | c.467G>C (p.Arg156Pro) | |
20 | g.44160320C>T | CA409094322 | JPH2 | c.467G>A (p.Arg156His) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.44160321G>A | CA314629803 | JPH2 | c.466C>T (p.Arg156Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.44160321G>C | CA409094323 | JPH2 | c.466C>G (p.Arg156Gly) | gnomAD v4 |
20 | g.44160321G= | CA2365647849 | JPH2 | c.466C= (p.Arg156=) | |
20 | g.44160321G>T | CA409094324 | JPH2 | c.466C>A (p.Arg156Ser) | gnomAD v4 |
20 | g.44160322C>A | CA510739228 | JPH2 | c.465G>T (p.Val155=) | gnomAD v4 |
20 | g.44160322C= | CA2365647850 | JPH2 | c.465G= (p.Val155=) | |
20 | g.44160322C>G | CA510739230 | JPH2 | c.465G>C (p.Val155=) | |
20 | g.44160322C>T | CA510739229 | JPH2 | c.465G>A (p.Val155=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.44160323A= | CA2365647851 | JPH2 | c.464T= (p.Val155=) | |
20 | g.44160323A>C | CA409094327 | JPH2 | c.464T>G (p.Val155Gly) | gnomAD v4 |
20 | g.44160323A>G | CA409094326 | JPH2 | c.464T>C (p.Val155Ala) | ClinVar dbSNP gnomAD v4 |
20 | g.44160323A>T | CA409094325 | JPH2 | c.464T>A (p.Val155Glu) | |
20 | g.44160324C>A | CA409094328 | JPH2 | c.463G>T (p.Val155Leu) | gnomAD v4 |
20 | g.44160324C>G | CA409094329 | JPH2 | c.463G>C (p.Val155Leu) | |
20 | g.44160324C>T | CA409094330 | JPH2 | c.463G>A (p.Val155Met) | gnomAD v4 |
20 | g.44160325C>A | CA510739231 | JPH2 | c.462G>T (p.Val154=) | gnomAD v4 |
20 | g.44160325C>G | CA510739232 | JPH2 | c.462G>C (p.Val154=) |