| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2171780T>A | CA379112917 | TH | c.7A>T (p.Thr3Ser) | |
| 11 | g.2171780T>C | CA379112918 | TH | c.7A>G (p.Thr3Ala) | |
| 11 | g.2171780T>G | CA379112919 | TH | c.7A>C (p.Thr3Pro) | dbSNP |
| 11 | g.2171780T= | CA1948012139 | TH | c.7A= (p.Thr3=) | |
| 11 | g.2171781G>A | CA472019172 | TH | c.6C>T (p.Pro2=) | ClinVar gnomAD v4 |
| 11 | g.2171781G>C | CA472019174 | TH | c.6C>G (p.Pro2=) | |
| 11 | g.2171781G>T | CA472019175 | TH | c.6C>A (p.Pro2=) | gnomAD v4 |
| 11 | g.2171783del | CA2611984215 | TH | c.6del (p.Thr3ProfsTer?) c.6del (p.Thr3ProfsTer29) | gnomAD v4 |
| 11 | g.2171782G>A | CA5818895 | TH | c.5C>T (p.Pro2Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2171782G>C | CA379112921 | TH | c.5C>G (p.Pro2Arg) | |
| 11 | g.2171782G= | CA1948012140 | TH | c.5C= (p.Pro2=) | |
| 11 | g.2171782G>T | CA379112920 | TH | c.5C>A (p.Pro2His) | |
| 11 | g.2171783G>A | CA379112922 | TH | c.4C>T (p.Pro2Ser) | gnomAD v4 |
| 11 | g.2171783G>C | CA379112923 | TH | c.4C>G (p.Pro2Ala) | |
| 11 | g.2171783G= | CA1948012141 | TH | c.4C= (p.Pro2=) | |
| 11 | g.2171783G>T | CA5818896 | TH | c.4C>A (p.Pro2Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2171784C>A | CA379112924 | TH | c.3G>T (p.Met1Ile) | gnomAD v4 |
| 11 | g.2171784C>G | CA379112925 | TH | c.3G>C (p.Met1Ile) | |
| 11 | g.2171784C>T | CA379112926 | TH | c.3G>A (p.Met1Ile) | gnomAD v4 |
| 11 | g.2171785A= | CA1948012143 | TH | c.2T= (p.Met1=) | |
| 11 | g.2171785A>C | CA379112927 | TH | c.2T>G (p.Met1Arg) | |
| 11 | g.2171785A>G | CA5818897 | TH | c.2T>C (p.Met1Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2171785A>T | CA379112928 | TH | c.2T>A (p.Met1Lys) | |
| 11 | g.2171786T>A | CA379112931 | TH | c.1A>T (p.Met1Leu) | |
| 11 | g.2171786T>C | CA379112930 | TH | c.1A>G (p.Met1Val) | |
| 11 | g.2171786T>G | CA379112929 | TH | c.1A>C (p.Met1Leu) | |
| 11 | g.2171786dup | CA674605062 | TH | c.1dup (p.Met1AsnfsTer20) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2171787G>T | CA2611984238 | TH | c.-1C>A (n.-1C>A) | gnomAD v4 |
| 11 | g.2171788G>A | CA2611984239 | TH | c.-2C>T (n.-2C>T) | gnomAD v4 |
| 11 | g.2171788G>T | CA2590508514 | TH | c.-2C>A (n.-2C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2171789C>A | CA2611984244 | TH | c.-3G>T (n.-3G>T) | gnomAD v4 |
| 11 | g.2171789C= | CA1948012144 | TH | c.-3G= (n.-3G=) | |
| 11 | g.2171789C>G | CA2611984245 | TH | c.-3G>C (n.-3G>C) | gnomAD v4 |
| 11 | g.2171789C>T | CA1948012145 | TH | c.-3G>A (n.-3G>A) | dbSNP |
| 11 | g.2171790T>C | CA2611984248 | TH | c.-4A>G (n.-4A>G) | gnomAD v4 |
| 11 | g.2171791C>A | CA2611984251 | TH | c.-5G>T (n.-5G>T) | gnomAD v4 |
| 11 | g.2171791C= | CA1948012146 | TH | c.-5G= (n.-5G=) | |
| 11 | g.2171791C>T | CA216230152 | TH | c.-5G>A (n.-5G>A) | dbSNP |
| 11 | g.2171791_2171792del | CA2574757433 | TH | c.-6_-5del (n.-6_-5del) | gnomAD v4 |
| 11 | g.2171793G>A | CA5818898 | TH | c.-7C>T (n.-7C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2171793G= | CA1948012147 | TH | c.-7C= (n.-7C=) | |
| 11 | g.2171793G>T | CA2611984254 | TH | c.-7C>A (n.-7C>A) | gnomAD v4 |
| 11 | g.2171794T>C | CA5818899 | TH | c.-8A>G (n.-8A>G) | dbSNP ExAC gnomAD v2 |
| 11 | g.2171794T= | CA1948012148 | TH | c.-8A= (n.-8A=) | |
| 11 | g.2171795G>A | CA2611984257 | TH | c.-9C>T (n.-9C>T) | gnomAD v4 |
| 11 | g.2171795G>T | CA2611984258 | TH | c.-9C>A (n.-9C>A) | gnomAD v4 |
| 11 | g.2171796T>C | CA597089931 | TH | c.-10A>G (n.-10A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2171796T>G | CA2611984261 | TH | c.-10A>C (n.-10A>C) | gnomAD v4 |
| 11 | g.2171796T= | CA1948012149 | TH | c.-10A= (n.-10A=) | |
| 11 | g.2171798del | CA2611984265 | TH | c.-11del (n.-11del) | gnomAD v4 |