Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.41755726_41755736del | CA2637857939 | JUP | c.*14_*24del (n.*14_*24del) c.*14_*14+10del | gnomAD v4 |
17 | g.41755735_41755738del | CA2637857971 | JUP | c.*7_*10del (n.*7_*10del) | gnomAD v4 |
17 | g.41755735C>A | CA626025193 | JUP | c.*9G>T (n.*9G>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.41755735C= | CA2260169416 | JUP | c.*9G= (n.*9G=) | |
17 | g.41755735C>T | CA2637857976 | JUP | c.*9G>A (n.*9G>A) | gnomAD v4 |
17 | g.41755736C= | CA2260169417 | JUP | c.*8G= (n.*8G=) | |
17 | g.41755736C>T | CA626025194 | JUP | c.*8G>A (n.*8G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.41755736_41755737insG | CA2637857979 | JUP | c.*7_*8insC (n.*7_*8insC) | gnomAD v4 |
17 | g.41755737A>T | CA2637857978 | JUP | c.*7T>A (n.*7T>A) | gnomAD v4 |
17 | g.41755737_41755738insT | CA2637857980 | JUP | c.*6_*7insA (n.*6_*7insA) | gnomAD v4 |
17 | g.41755738G>A | CA626025195 | JUP | c.*6C>T (n.*6C>T) | dbSNP gnomAD v2 |
17 | g.41755738G>C | CA983779618 | JUP | c.*6C>G (n.*6C>G) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.41755738G= | CA2260169418 | JUP | c.*6C= (n.*6C=) | |
17 | g.41755738G>T | CA2637857981 | JUP | c.*6C>A (n.*6C>A) | gnomAD v4 |
17 | g.41755739G>A | CA2637857982 | JUP | c.*5C>T (n.*5C>T) | gnomAD v4 |
17 | g.41755739G>T | CA2637857984 | JUP | c.*5C>A (n.*5C>A) | gnomAD v4 |
17 | g.41755740C>A | CA2637857986 | JUP | c.*4G>T (n.*4G>T) | gnomAD v4 |
17 | g.41755740C>T | CA2637857987 | JUP | c.*4G>A (n.*4G>A) | gnomAD v4 |
17 | g.41755740_41755741insTCA | CA2637857989 | JUP | c.*3_*4insTGA (n.*3_*4insTGA) | gnomAD v4 |
17 | g.41755740_41755741insTGGGTGCCGTGGCTCA | CA2637857990 | JUP | c.*3_*4insTGAGCCACGGCACCCA (n.*3_*4insTGAGCCACGGCACCCA) | gnomAD v4 |
17 | g.41755741C>A | CA2593969236 | JUP | c.*3G>T (n.*3G>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.41755741C= | CA2260169419 | JUP | c.*3G= (n.*3G=) | |
17 | g.41755741C>T | CA291695 | JUP | c.*3G>A (n.*3G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41755742G>A | CA176373 | JUP | c.*2C>T (n.*2C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41755742G= | CA2260169420 | JUP | c.*2C= (n.*2C=) | |
17 | g.41755743C>T | CA2637857992 | JUP | c.*1G>A (n.*1G>A) | gnomAD v4 |
17 | g.41755744C>A | CA399490179 | JUP | c.2238G>T (p.Ter746Tyr) c.2289G>T (p.Ter763Tyr) | |
17 | g.41755744C>G | CA399490177 | JUP | c.2238G>C (p.Ter746Tyr) c.2289G>C (p.Ter763Tyr) | |
17 | g.41755744C>T | CA500019484 | JUP | c.2238G>A (p.Ter746=) c.2289G>A (p.Ter763=) | ClinVar |
17 | g.41755745T>A | CA399490181 | JUP | c.2237A>T (p.Ter746Leu) c.2288A>T (p.Ter763Leu) | |
17 | g.41755745T>C | CA399490183 | JUP | c.2237A>G (p.Ter746Trp) c.2288A>G (p.Ter763Trp) | |
17 | g.41755745T>G | CA399490184 | JUP | c.2237A>C (p.Ter746Ser) c.2288A>C (p.Ter763Ser) | |
17 | g.41755746A>C | CA399490186 | JUP | c.2236T>G (p.Ter746Glu) c.2287T>G (p.Ter763Glu) | |
17 | g.41755746A>G | CA399490187 | JUP | c.2236T>C (p.Ter746Gln) c.2287T>C (p.Ter763Gln) | |
17 | g.41755746A>T | CA399490188 | JUP | c.2236T>A (p.Ter746Lys) c.2287T>A (p.Ter763Lys) | COSMIC |
17 | g.41755747G>A | CA500019491 | JUP | c.2235C>T (p.Ala745=) c.2286C>T (p.Ala762=) | |
17 | g.41755747G>C | CA500019494 | JUP | c.2235C>G (p.Ala745=) c.2286C>G (p.Ala762=) | |
17 | g.41755747G>T | CA500019496 | JUP | c.2235C>A (p.Ala745=) c.2286C>A (p.Ala762=) | gnomAD v4 |
17 | g.41755748G>A | CA399490189 | JUP | c.2234C>T (p.Ala745Val) c.2285C>T (p.Ala762Val) | |
17 | g.41755748G>C | CA399490190 | JUP | c.2234C>G (p.Ala745Gly) c.2285C>G (p.Ala762Gly) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.41755748G= | CA2260169421 | JUP | c.2234C= (p.Ala745=) c.2285C= (p.Ala762=) | |
17 | g.41755748G>T | CA399490191 | JUP | c.2234C>A (p.Ala745Asp) c.2285C>A (p.Ala762Asp) | |
17 | g.41755749C>A | CA399490192 | JUP | c.2233G>T (p.Ala745Ser) c.2284G>T (p.Ala762Ser) | gnomAD v4 |
17 | g.41755749C>G | CA399490193 | JUP | c.2233G>C (p.Ala745Pro) c.2284G>C (p.Ala762Pro) | |
17 | g.41755749C>T | CA399490194 | JUP | c.2233G>A (p.Ala745Thr) c.2284G>A (p.Ala762Thr) | |
17 | g.41755750C>A | CA500019506 | JUP | c.2232G>T (p.Leu744=) c.2283G>T (p.Leu761=) | |
17 | g.41755750C= | CA2260169422 | JUP | c.2232G= (p.Leu744=) c.2283G= (p.Leu761=) | |
17 | g.41755750C>G | CA500019508 | JUP | c.2232G>C (p.Leu744=) c.2283G>C (p.Leu761=) | gnomAD v4 |
17 | g.41755750C>T | CA500019511 | JUP | c.2232G>A (p.Leu744=) c.2283G>A (p.Leu761=) | ClinVar dbSNP |
17 | g.41755751A>C | CA399490198 | JUP | c.2231T>G (p.Leu744Arg) c.2282T>G (p.Leu761Arg) |