Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.20955181G>A | CA16603116 | ROCK1 | c.*212C>T (n.*212C>T) c.3577C>T (p.Pro1193Ser) n.287C>T c.3655C>T (p.Pro1219Ser) c.2188C>T (p.Pro730Ser) | ClinVar dbSNP |
18 | g.20955181G>C | CA401747361 | ROCK1 | c.*212C>G (n.*212C>G) c.3577C>G (p.Pro1193Ala) n.287C>G c.3655C>G (p.Pro1219Ala) c.2188C>G (p.Pro730Ala) | |
18 | g.20955181G= | CA2288998081 | ROCK1 | c.*212C= (n.*212C=) c.3577C= (p.Pro1193=) n.287C= c.3655C= (p.Pro1219=) c.2188C= (p.Pro730=) | |
18 | g.20955181G>T | CA401747366 | ROCK1 | c.*212C>A (n.*212C>A) c.3577C>A (p.Pro1193Thr) n.287C>A c.3655C>A (p.Pro1219Thr) c.2188C>A (p.Pro730Thr) | |
18 | g.20955182A>C | CA401747367 | ROCK1 | c.*211T>G (n.*211T>G) c.3576T>G (p.Ile1192Met) n.286T>G c.3654T>G (p.Ile1218Met) c.2187T>G (p.Ile729Met) | |
18 | g.20955182A>G | CA503289057 | ROCK1 | c.*211T>C (n.*211T>C) c.3576T>C (p.Ile1192=) n.286T>C c.3654T>C (p.Ile1218=) c.2187T>C (p.Ile729=) | |
18 | g.20955182A>T | CA503289058 | ROCK1 | c.*211T>A (n.*211T>A) c.3576T>A (p.Ile1192=) n.286T>A c.3654T>A (p.Ile1218=) c.2187T>A (p.Ile729=) | |
18 | g.20955183A>C | CA401747368 | ROCK1 | c.*210T>G (n.*210T>G) c.3575T>G (p.Ile1192Ser) n.285T>G c.3653T>G (p.Ile1218Ser) c.2186T>G (p.Ile729Ser) | |
18 | g.20955183A>G | CA401747369 | ROCK1 | c.*210T>C (n.*210T>C) c.3575T>C (p.Ile1192Thr) n.285T>C c.3653T>C (p.Ile1218Thr) c.2186T>C (p.Ile729Thr) | |
18 | g.20955183A>T | CA401747370 | ROCK1 | c.*210T>A (n.*210T>A) c.3575T>A (p.Ile1192Asn) n.285T>A c.3653T>A (p.Ile1218Asn) c.2186T>A (p.Ile729Asn) | |
18 | g.20955184T>A | CA401747373 | ROCK1 | c.*209A>T (n.*209A>T) c.3574A>T (p.Ile1192Phe) n.284A>T c.3652A>T (p.Ile1218Phe) c.2185A>T (p.Ile729Phe) | COSMIC |
18 | g.20955184T>C | CA401747374 | ROCK1 | c.*209A>G (n.*209A>G) c.3574A>G (p.Ile1192Val) n.284A>G c.3652A>G (p.Ile1218Val) c.2185A>G (p.Ile729Val) | |
18 | g.20955184T>G | CA401747375 | ROCK1 | c.*209A>C (n.*209A>C) c.3574A>C (p.Ile1192Leu) n.284A>C c.3652A>C (p.Ile1218Leu) c.2185A>C (p.Ile729Leu) | |
18 | g.20955185T>A | CA401747377 | ROCK1 | c.*208A>T (n.*208A>T) c.3573A>T (p.Glu1191Asp) n.283A>T c.3651A>T (p.Glu1217Asp) c.2184A>T (p.Glu728Asp) | |
18 | g.20955185T>C | CA503289059 | ROCK1 | c.*208A>G (n.*208A>G) c.3573A>G (p.Glu1191=) n.283A>G c.3651A>G (p.Glu1217=) c.2184A>G (p.Glu728=) | |
18 | g.20955185T>G | CA401747376 | ROCK1 | c.*208A>C (n.*208A>C) c.3573A>C (p.Glu1191Asp) n.283A>C c.3651A>C (p.Glu1217Asp) c.2184A>C (p.Glu728Asp) | |
18 | g.20955186T>A | CA401747380 | ROCK1 | c.*207A>T (n.*207A>T) c.3572A>T (p.Glu1191Val) n.282A>T c.3650A>T (p.Glu1217Val) c.2183A>T (p.Glu728Val) | |
18 | g.20955186T>C | CA401747381 | ROCK1 | c.*207A>G (n.*207A>G) c.3572A>G (p.Glu1191Gly) n.282A>G c.3650A>G (p.Glu1217Gly) c.2183A>G (p.Glu728Gly) | |
18 | g.20955186T>G | CA401747382 | ROCK1 | c.*207A>C (n.*207A>C) c.3572A>C (p.Glu1191Ala) n.282A>C c.3650A>C (p.Glu1217Ala) c.2183A>C (p.Glu728Ala) | |
18 | g.20955187C>A | CA401747384 | ROCK1 | c.*206G>T (n.*206G>T) c.3571G>T (p.Glu1191Ter) n.281G>T c.3649G>T (p.Glu1217Ter) c.2182G>T (p.Glu728Ter) | |
18 | g.20955187C>G | CA401747385 | ROCK1 | c.*206G>C (n.*206G>C) c.3571G>C (p.Glu1191Gln) n.281G>C c.3649G>C (p.Glu1217Gln) c.2182G>C (p.Glu728Gln) | |
18 | g.20955187C>T | CA401747387 | ROCK1 | c.*206G>A (n.*206G>A) c.3571G>A (p.Glu1191Lys) n.281G>A c.3649G>A (p.Glu1217Lys) c.2182G>A (p.Glu728Lys) | |
18 | g.20955188T>A | CA401747389 | ROCK1 | c.*205A>T (n.*205A>T) c.3570A>T (p.Glu1190Asp) n.280A>T c.3648A>T (p.Glu1216Asp) c.2181A>T (p.Glu727Asp) | |
18 | g.20955188T>C | CA503289063 | ROCK1 | c.*205A>G (n.*205A>G) c.3570A>G (p.Glu1190=) n.280A>G c.3648A>G (p.Glu1216=) c.2181A>G (p.Glu727=) | dbSNP gnomAD v4 |
18 | g.20955188T>G | CA401747388 | ROCK1 | c.*205A>C (n.*205A>C) c.3570A>C (p.Glu1190Asp) n.280A>C c.3648A>C (p.Glu1216Asp) c.2181A>C (p.Glu727Asp) | |
18 | g.20955188T= | CA2288998082 | ROCK1 | c.*205A= (n.*205A=) c.3570A= (p.Glu1190=) n.280A= c.3648A= (p.Glu1216=) c.2181A= (p.Glu727=) | |
18 | g.20955189T>A | CA401747392 | ROCK1 | c.*204A>T (n.*204A>T) c.3569A>T (p.Glu1190Val) n.279A>T c.3647A>T (p.Glu1216Val) c.2180A>T (p.Glu727Val) | |
18 | g.20955189T>C | CA401747394 | ROCK1 | c.*204A>G (n.*204A>G) c.3569A>G (p.Glu1190Gly) n.279A>G c.3647A>G (p.Glu1216Gly) c.2180A>G (p.Glu727Gly) | |
18 | g.20955189T>G | CA401747396 | ROCK1 | c.*204A>C (n.*204A>C) c.3569A>C (p.Glu1190Ala) n.279A>C c.3647A>C (p.Glu1216Ala) c.2180A>C (p.Glu727Ala) | |
18 | g.20955190C>A | CA401747399 | ROCK1 | c.*203G>T (n.*203G>T) c.3568G>T (p.Glu1190Ter) n.278G>T c.3646G>T (p.Glu1216Ter) c.2179G>T (p.Glu727Ter) | |
18 | g.20955190C>G | CA401747402 | ROCK1 | c.*203G>C (n.*203G>C) c.3568G>C (p.Glu1190Gln) n.278G>C c.3646G>C (p.Glu1216Gln) c.2179G>C (p.Glu727Gln) | |
18 | g.20955190C>T | CA401747403 | ROCK1 | c.*203G>A (n.*203G>A) c.3568G>A (p.Glu1190Lys) n.278G>A c.3646G>A (p.Glu1216Lys) c.2179G>A (p.Glu727Lys) | |
18 | g.20955191A= | CA2288998083 | ROCK1 | c.*202T= (n.*202T=) c.3567T= (p.Thr1189=) n.277T= c.3645T= (p.Thr1215=) c.2178T= (p.Thr726=) | |
18 | g.20955191A>C | CA503289071 | ROCK1 | c.*202T>G (n.*202T>G) c.3567T>G (p.Thr1189=) n.277T>G c.3645T>G (p.Thr1215=) c.2178T>G (p.Thr726=) | |
18 | g.20955191A>G | CA503289072 | ROCK1 | c.*202T>C (n.*202T>C) c.3567T>C (p.Thr1189=) n.277T>C c.3645T>C (p.Thr1215=) c.2178T>C (p.Thr726=) | dbSNP gnomAD v2 |
18 | g.20955191A>T | CA503289073 | ROCK1 | c.*202T>A (n.*202T>A) c.3567T>A (p.Thr1189=) n.277T>A c.3645T>A (p.Thr1215=) c.2178T>A (p.Thr726=) | |
18 | g.20955192G>A | CA401747404 | ROCK1 | c.*201C>T (n.*201C>T) c.3566C>T (p.Thr1189Ile) n.276C>T c.3644C>T (p.Thr1215Ile) c.2177C>T (p.Thr726Ile) | |
18 | g.20955192G>C | CA401747406 | ROCK1 | c.*201C>G (n.*201C>G) c.3566C>G (p.Thr1189Ser) n.276C>G c.3644C>G (p.Thr1215Ser) c.2177C>G (p.Thr726Ser) | |
18 | g.20955192G= | CA2288998084 | ROCK1 | c.*201C= (n.*201C=) c.3566C= (p.Thr1189=) n.276C= c.3644C= (p.Thr1215=) c.2177C= (p.Thr726=) | |
18 | g.20955192G>T | CA401747405 | ROCK1 | c.*201C>A (n.*201C>A) c.3566C>A (p.Thr1189Asn) n.276C>A c.3644C>A (p.Thr1215Asn) c.2177C>A (p.Thr726Asn) | dbSNP |
18 | g.20955193T>A | CA401747408 | ROCK1 | c.*200A>T (n.*200A>T) c.3565A>T (p.Thr1189Ser) n.275A>T c.3643A>T (p.Thr1215Ser) c.2176A>T (p.Thr726Ser) | |
18 | g.20955193T>C | CA401747415 | ROCK1 | c.*200A>G (n.*200A>G) c.3565A>G (p.Thr1189Ala) n.275A>G c.3643A>G (p.Thr1215Ala) c.2176A>G (p.Thr726Ala) | |
18 | g.20955193T>G | CA401747417 | ROCK1 | c.*200A>C (n.*200A>C) c.3565A>C (p.Thr1189Pro) n.275A>C c.3643A>C (p.Thr1215Pro) c.2176A>C (p.Thr726Pro) | |
18 | g.20955194T>A | CA401747421 | ROCK1 | c.*199A>T (n.*199A>T) c.3564A>T (p.Glu1188Asp) n.274A>T c.3642A>T (p.Glu1214Asp) c.2175A>T (p.Glu725Asp) | |
18 | g.20955194T>C | CA503289079 | ROCK1 | c.*199A>G (n.*199A>G) c.3564A>G (p.Glu1188=) n.274A>G c.3642A>G (p.Glu1214=) c.2175A>G (p.Glu725=) | |
18 | g.20955194T>G | CA401747422 | ROCK1 | c.*199A>C (n.*199A>C) c.3564A>C (p.Glu1188Asp) n.274A>C c.3642A>C (p.Glu1214Asp) c.2175A>C (p.Glu725Asp) | |
18 | g.20955195T>A | CA401747426 | ROCK1 | c.*198A>T (n.*198A>T) c.3563A>T (p.Glu1188Val) n.273A>T c.3641A>T (p.Glu1214Val) c.2174A>T (p.Glu725Val) | |
18 | g.20955195T>C | CA401747429 | ROCK1 | c.*198A>G (n.*198A>G) c.3563A>G (p.Glu1188Gly) n.273A>G c.3641A>G (p.Glu1214Gly) c.2174A>G (p.Glu725Gly) | |
18 | g.20955195T>G | CA401747432 | ROCK1 | c.*198A>C (n.*198A>C) c.3563A>C (p.Glu1188Ala) n.273A>C c.3641A>C (p.Glu1214Ala) c.2174A>C (p.Glu725Ala) | |
18 | g.20955196C>A | CA401747434 | ROCK1 | c.*197G>T (n.*197G>T) c.3562G>T (p.Glu1188Ter) n.272G>T c.3640G>T (p.Glu1214Ter) c.2173G>T (p.Glu725Ter) | gnomAD v4 |