Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.50210624A>C | CA508175190 | MYH14 | c.259A>C (p.Arg87=) c.-2032A>C (n.-2032A>C) c.379A>C (p.Arg127=) | |
19 | g.50210624A>G | CA406946376 | MYH14 | c.259A>G (p.Arg87Gly) c.-2032A>G (n.-2032A>G) c.379A>G (p.Arg127Gly) | |
19 | g.50210624A>T | CA406946377 | MYH14 | c.259A>T (p.Arg87Trp) c.-2032A>T (n.-2032A>T) c.379A>T (p.Arg127Trp) | gnomAD v4 |
19 | g.50210625G>A | CA406946383 | MYH14 | c.260G>A (p.Arg87Lys) c.-2031G>A (n.-2031G>A) c.380G>A (p.Arg127Lys) | gnomAD v4 |
19 | g.50210625G>C | CA406946382 | MYH14 | c.260G>C (p.Arg87Thr) c.-2031G>C (n.-2031G>C) c.380G>C (p.Arg127Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.50210625G= | CA2340790526 | MYH14 | c.260G= (p.Arg87=) c.-2031G= (n.-2031G=) c.380G= (p.Arg127=) | |
19 | g.50210625G>T | CA406946380 | MYH14 | c.260G>T (p.Arg87Met) c.-2031G>T (n.-2031G>T) c.380G>T (p.Arg127Met) | gnomAD v4 |
19 | g.50210626G>A | CA508175192 | MYH14 | c.261G>A (p.Arg87=) c.-2030G>A (n.-2030G>A) c.381G>A (p.Arg127=) | |
19 | g.50210626G>C | CA406946386 | MYH14 | c.261G>C (p.Arg87Ser) c.-2030G>C (n.-2030G>C) c.381G>C (p.Arg127Ser) | |
19 | g.50210626G>T | CA406946388 | MYH14 | c.261G>T (p.Arg87Ser) c.-2030G>T (n.-2030G>T) c.381G>T (p.Arg127Ser) | gnomAD v4 |
19 | g.50210627C>A | CA508175193 | MYH14 | c.262C>A (p.Arg88=) c.-2029C>A (n.-2029C>A) c.382C>A (p.Arg128=) | gnomAD v4 |
19 | g.50210627C= | CA2340790527 | MYH14 | c.262C= (p.Arg88=) c.-2029C= (n.-2029C=) c.382C= (p.Arg128=) | |
19 | g.50210627C>G | CA406946390 | MYH14 | c.262C>G (p.Arg88Gly) c.-2029C>G (n.-2029C>G) c.382C>G (p.Arg128Gly) | |
19 | g.50210627C>T | CA9592217 | MYH14 | c.262C>T (p.Arg88Trp) c.-2029C>T (n.-2029C>T) c.382C>T (p.Arg128Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.50210628G>A | CA9592218 | MYH14 | c.263G>A (p.Arg88Gln) c.-2028G>A (n.-2028G>A) c.383G>A (p.Arg128Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.50210628G>C | CA406946394 | MYH14 | c.263G>C (p.Arg88Pro) c.-2028G>C (n.-2028G>C) c.383G>C (p.Arg128Pro) | gnomAD v4 |
19 | g.50210628G= | CA2340790528 | MYH14 | c.263G= (p.Arg88=) c.-2028G= (n.-2028G=) c.383G= (p.Arg128=) | |
19 | g.50210628G>T | CA406946396 | MYH14 | c.263G>T (p.Arg88Leu) c.-2028G>T (n.-2028G>T) c.383G>T (p.Arg128Leu) | gnomAD v4 |
19 | g.50210628_50210635dup | CA2586537517 | MYH14 | c.263_270dup (p.Leu91GlyfsTer12) c.-2028_-2021dup (n.-2028_-2021dup) c.383_390dup (p.Leu131GlyfsTer12) | gnomAD v4 |
19 | g.50210629G>A | CA508175195 | MYH14 | c.264G>A (p.Arg88=) c.-2027G>A (n.-2027G>A) c.384G>A (p.Arg128=) | gnomAD v4 |
19 | g.50210629G>C | CA508175196 | MYH14 | c.264G>C (p.Arg88=) c.-2027G>C (n.-2027G>C) c.384G>C (p.Arg128=) | |
19 | g.50210629G>T | CA508175197 | MYH14 | c.264G>T (p.Arg88=) c.-2027G>T (n.-2027G>T) c.384G>T (p.Arg128=) | gnomAD v4 |
19 | g.50210630C>A | CA406946398 | MYH14 | c.265C>A (p.Leu89Met) c.-2026C>A (n.-2026C>A) c.385C>A (p.Leu129Met) | gnomAD v4 |
19 | g.50210630C= | CA2340790529 | MYH14 | c.265C= (p.Leu89=) c.-2026C= (n.-2026C=) c.385C= (p.Leu129=) | |
19 | g.50210630C>G | CA406946400 | MYH14 | c.265C>G (p.Leu89Val) c.-2026C>G (n.-2026C>G) c.385C>G (p.Leu129Val) | |
19 | g.50210630C>T | CA508175198 | MYH14 | c.265C>T (p.Leu89=) c.-2026C>T (n.-2026C>T) c.385C>T (p.Leu129=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.50210631T>A | CA406946402 | MYH14 | c.266T>A (p.Leu89Gln) c.-2025T>A (n.-2025T>A) c.386T>A (p.Leu129Gln) | |
19 | g.50210631T>C | CA309565589 | MYH14 | c.266T>C (p.Leu89Pro) c.-2025T>C (n.-2025T>C) c.386T>C (p.Leu129Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
19 | g.50210631T>G | CA406946403 | MYH14 | c.266T>G (p.Leu89Arg) c.-2025T>G (n.-2025T>G) c.386T>G (p.Leu129Arg) | |
19 | g.50210631T= | CA2340790530 | MYH14 | c.266T= (p.Leu89=) c.-2025T= (n.-2025T=) c.386T= (p.Leu129=) | |
19 | g.50210632G>A | CA508175199 | MYH14 | c.267G>A (p.Leu89=) c.-2024G>A (n.-2024G>A) c.387G>A (p.Leu129=) | gnomAD v4 |
19 | g.50210632G>C | CA508175203 | MYH14 | c.267G>C (p.Leu89=) c.-2024G>C (n.-2024G>C) c.387G>C (p.Leu129=) | |
19 | g.50210632G>T | CA508175201 | MYH14 | c.267G>T (p.Leu89=) c.-2024G>T (n.-2024G>T) c.387G>T (p.Leu129=) | |
19 | g.50210633C>A | CA508175205 | MYH14 | c.268C>A (p.Arg90=) c.-2023C>A (n.-2023C>A) c.388C>A (p.Arg130=) | gnomAD v4 |
19 | g.50210633C>G | CA406946406 | MYH14 | c.268C>G (p.Arg90Gly) c.-2023C>G (n.-2023C>G) c.388C>G (p.Arg130Gly) | |
19 | g.50210633C>T | CA406946407 | MYH14 | c.268C>T (p.Arg90Ter) c.-2023C>T (n.-2023C>T) c.388C>T (p.Arg130Ter) | gnomAD v4 COSMIC COSMIC COSMIC |
19 | g.50210634G>A | CA309565593 | MYH14 | c.269G>A (p.Arg90Gln) c.-2022G>A (n.-2022G>A) c.389G>A (p.Arg130Gln) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.50210634G>C | CA406946410 | MYH14 | c.269G>C (p.Arg90Pro) c.-2022G>C (n.-2022G>C) c.389G>C (p.Arg130Pro) | dbSNP gnomAD v4 |
19 | g.50210634G= | CA2340790531 | MYH14 | c.269G= (p.Arg90=) c.-2022G= (n.-2022G=) c.389G= (p.Arg130=) | |
19 | g.50210634G>T | CA406946412 | MYH14 | c.269G>T (p.Arg90Leu) c.-2022G>T (n.-2022G>T) c.389G>T (p.Arg130Leu) | gnomAD v4 |
19 | g.50210635A>C | CA508175206 | MYH14 | c.270A>C (p.Arg90=) c.-2021A>C (n.-2021A>C) c.390A>C (p.Arg130=) | |
19 | g.50210635A>G | CA508175207 | MYH14 | c.270A>G (p.Arg90=) c.-2021A>G (n.-2021A>G) c.390A>G (p.Arg130=) | |
19 | g.50210635A>T | CA508175209 | MYH14 | c.270A>T (p.Arg90=) c.-2021A>T (n.-2021A>T) c.390A>T (p.Arg130=) | |
19 | g.50210636C>A | CA406946414 | MYH14 | c.271C>A (p.Leu91Met) c.-2020C>A (n.-2020C>A) c.391C>A (p.Leu131Met) | |
19 | g.50210636C>G | CA406946416 | MYH14 | c.271C>G (p.Leu91Val) c.-2020C>G (n.-2020C>G) c.391C>G (p.Leu131Val) | |
19 | g.50210636C>T | CA508175210 | MYH14 | c.271C>T (p.Leu91=) c.-2020C>T (n.-2020C>T) c.391C>T (p.Leu131=) | gnomAD v4 |
19 | g.50210637T>A | CA406946418 | MYH14 | c.272T>A (p.Leu91Gln) c.-2019T>A (n.-2019T>A) c.392T>A (p.Leu131Gln) | |
19 | g.50210637T>C | CA406946420 | MYH14 | c.272T>C (p.Leu91Pro) c.-2019T>C (n.-2019T>C) c.392T>C (p.Leu131Pro) | |
19 | g.50210637T>G | CA406946422 | MYH14 | c.272T>G (p.Leu91Arg) c.-2019T>G (n.-2019T>G) c.392T>G (p.Leu131Arg) | |
19 | g.50210638G>A | CA508175212 | MYH14 | c.273G>A (p.Leu91=) c.-2018G>A (n.-2018G>A) c.393G>A (p.Leu131=) | gnomAD v4 |