Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.74457554T>A | CA381974252 | KCNE3 | c.10A>T (p.Thr4Ser) c.142A>T (p.Thr48Ser) | |
11 | g.74457554T>C | CA230668 | KCNE3 | c.10A>G (p.Thr4Ala) c.142A>G (p.Thr48Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.74457554T>G | CA381974251 | KCNE3 | c.10A>C (p.Thr4Pro) c.142A>C (p.Thr48Pro) | |
11 | g.74457554T= | CA1982893368 | KCNE3 | c.10A= (p.Thr4=) c.142A= (p.Thr48=) | |
11 | g.74457555A>C | CA475888269 | KCNE3 | c.9T>G (p.Thr3=) c.141T>G (p.Thr47=) | |
11 | g.74457555A>G | CA475888270 | KCNE3 | c.9T>C (p.Thr3=) c.141T>C (p.Thr47=) | |
11 | g.74457555A>T | CA475888271 | KCNE3 | c.9T>A (p.Thr3=) c.141T>A (p.Thr47=) | |
11 | g.74457556G>A | CA381974253 | KCNE3 | c.8C>T (p.Thr3Ile) c.140C>T (p.Thr47Ile) | |
11 | g.74457556G>C | CA381974254 | KCNE3 | c.8C>G (p.Thr3Ser) c.140C>G (p.Thr47Ser) | |
11 | g.74457556G>T | CA381974255 | KCNE3 | c.8C>A (p.Thr3Asn) c.140C>A (p.Thr47Asn) | |
11 | g.74457557T>A | CA381974256 | KCNE3 | c.7A>T (p.Thr3Ser) c.139A>T (p.Thr47Ser) | |
11 | g.74457557T>C | CA381974257 | KCNE3 | c.7A>G (p.Thr3Ala) c.139A>G (p.Thr47Ala) | |
11 | g.74457557T>G | CA381974258 | KCNE3 | c.7A>C (p.Thr3Pro) c.139A>C (p.Thr47Pro) | |
11 | g.74457558C>A | CA381974259 | KCNE3 | c.6G>T (p.Glu2Asp) c.138G>T (p.Glu46Asp) | |
11 | g.74457558C>G | CA381974260 | KCNE3 | c.6G>C (p.Glu2Asp) c.138G>C (p.Glu46Asp) | |
11 | g.74457558C>T | CA475888272 | KCNE3 | c.6G>A (p.Glu2=) c.138G>A (p.Glu46=) | gnomAD v4 |
11 | g.74457559T>A | CA381974261 | KCNE3 | c.5A>T (p.Glu2Val) c.137A>T (p.Glu46Val) | |
11 | g.74457559T>C | CA381974262 | KCNE3 | c.5A>G (p.Glu2Gly) c.137A>G (p.Glu46Gly) | |
11 | g.74457559T>G | CA381974263 | KCNE3 | c.5A>C (p.Glu2Ala) c.137A>C (p.Glu46Ala) | |
11 | g.74457560C>A | CA381974266 | KCNE3 | c.4G>T (p.Glu2Ter) c.136G>T (p.Glu46Ter) | |
11 | g.74457560C>G | CA381974265 | KCNE3 | c.4G>C (p.Glu2Gln) c.136G>C (p.Glu46Gln) | |
11 | g.74457560C>T | CA381974264 | KCNE3 | c.4G>A (p.Glu2Lys) c.136G>A (p.Glu46Lys) | |
11 | g.74457561C>A | CA381974267 | KCNE3 | c.3G>T (p.Met1Ile) c.135G>T (p.Met45Ile) | |
11 | g.74457561C>G | CA381974268 | KCNE3 | c.3G>C (p.Met1Ile) c.135G>C (p.Met45Ile) | |
11 | g.74457561C>T | CA381974269 | KCNE3 | c.3G>A (p.Met1Ile) c.135G>A (p.Met45Ile) | COSMIC |
11 | g.74457562A= | CA1982893369 | KCNE3 | c.2T= (p.Met1=) c.134T= (p.Met45=) | |
11 | g.74457562A>C | CA381974270 | KCNE3 | c.2T>G (p.Met1Arg) c.134T>G (p.Met45Arg) | gnomAD v4 |
11 | g.74457562A>G | CA6184876 | KCNE3 | c.2T>C (p.Met1Thr) c.134T>C (p.Met45Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.74457562A>T | CA381974271 | KCNE3 | c.2T>A (p.Met1Lys) c.134T>A (p.Met45Lys) | |
11 | g.74457563T>A | CA381974272 | KCNE3 | c.1A>T (p.Met1Leu) c.133A>T (p.Met45Leu) | |
11 | g.74457563T>C | CA381974273 | KCNE3 | c.1A>G (p.Met1Val) c.133A>G (p.Met45Val) | gnomAD v4 |
11 | g.74457563T>G | CA381974274 | KCNE3 | c.1A>C (p.Met1Leu) c.133A>C (p.Met45Leu) | |
11 | g.74457565G>C | CA6184877 | KCNE3 | c.-2C>G (n.-2C>G) c.131C>G (p.Ala44Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.74457565G= | CA1982893370 | KCNE3 | c.-2C= (n.-2C=) c.131C= (p.Ala44=) | |
11 | g.74457566C>A | CA6184878 | KCNE3 | c.-3G>T (n.-3G>T) c.130G>T (p.Ala44Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.74457566C= | CA1982893371 | KCNE3 | c.-3G= (n.-3G=) c.130G= (p.Ala44=) | |
11 | g.74457567A>T | CA2615094120 | KCNE3 | c.-4T>A (n.-4T>A) c.129T>A (p.Val43=) | gnomAD v4 |
11 | g.74457569C= | CA1982893372 | KCNE3 | c.-6G= (n.-6G=) c.127G= (p.Val43=) | |
11 | g.74457569C>T | CA6184879 | KCNE3 | c.-6G>A (n.-6G>A) c.127G>A (p.Val43Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.74457570A>C | CA2615094121 | KCNE3 | c.-7T>G (n.-7T>G) c.126T>G (p.Pro42=) | gnomAD v4 |
11 | g.74457571G>A | CA6184880 | KCNE3 | c.-8C>T (n.-8C>T) c.125C>T (p.Pro42Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.74457571G>C | CA2615094122 | KCNE3 | c.-8C>G (n.-8C>G) c.125C>G (p.Pro42Arg) | gnomAD v4 |
11 | g.74457571G= | CA1982893373 | KCNE3 | c.-8C= (n.-8C=) c.125C= (p.Pro42=) | |
11 | g.74457572G>A | CA600712396 | KCNE3 | c.-9C>T (n.-9C>T) c.124C>T (p.Pro42Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.74457572G= | CA1982893374 | KCNE3 | c.-9C= (n.-9C=) c.124C= (p.Pro42=) | |
11 | g.74457573G>A | CA6184881 | KCNE3 | c.-10C>T (n.-10C>T) c.123C>T (p.Ile41=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.74457573G= | CA1982893375 | KCNE3 | c.-10C= (n.-10C=) c.123C= (p.Ile41=) | |
11 | g.74457573G>T | CA2792710372 | KCNE3 | c.-10C>A (n.-10C>A) c.123C>A (p.Ile41=) | |
11 | g.74457574A= | CA1982893376 | KCNE3 | c.-11T= (n.-11T=) c.122T= (p.Ile41=) | |
11 | g.74457574A>G | CA6184882 | KCNE3 | c.-11T>C (n.-11T>C) c.122T>C (p.Ile41Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |