| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.24261779G>A | CA256461 | TGM1 | c.424C>T (p.Arg142Cys) c.-29+348C>T (n.-29+348C>T) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 14 | g.24261779G>C | CA389277941 | TGM1 | c.424C>G (p.Arg142Gly) c.-29+348C>G (n.-29+348C>G) | |
| 14 | g.24261779G= | CA2123855929 | TGM1 | c.424C= (p.Arg142=) c.-29+348C= (n.-29+348C=) | |
| 14 | g.24261779G>T | CA389277953 | TGM1 | c.424C>A (p.Arg142Ser) c.-29+348C>A (n.-29+348C>A) | |
| 14 | g.24261780C>A | CA485665245 | TGM1 | c.423G>T (p.Val141=) c.-29+347G>T (n.-29+347G>T) | |
| 14 | g.24261780C>G | CA485665246 | TGM1 | c.423G>C (p.Val141=) c.-29+347G>C (n.-29+347G>C) | |
| 14 | g.24261780C>T | CA485665247 | TGM1 | c.423G>A (p.Val141=) c.-29+347G>A (n.-29+347G>A) | |
| 14 | g.24261781A= | CA2123855930 | TGM1 | c.422T= (p.Val141=) c.-29+346T= (n.-29+346T=) | |
| 14 | g.24261781A>C | CA7131417 | TGM1 | c.422T>G (p.Val141Gly) c.-29+346T>G (n.-29+346T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.24261781A>G | CA389277962 | TGM1 | c.422T>C (p.Val141Ala) c.-29+346T>C (n.-29+346T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24261781A>T | CA389277963 | TGM1 | c.422T>A (p.Val141Glu) c.-29+346T>A (n.-29+346T>A) | |
| 14 | g.24261782C>A | CA389277966 | TGM1 | c.421G>T (p.Val141Leu) c.-29+345G>T (n.-29+345G>T) | |
| 14 | g.24261782C>G | CA389277969 | TGM1 | c.421G>C (p.Val141Leu) c.-29+345G>C (n.-29+345G>C) | |
| 14 | g.24261782C>T | CA389277975 | TGM1 | c.421G>A (p.Val141Met) c.-29+345G>A (n.-29+345G>A) | |
| 14 | g.24261783T>A | CA485665248 | TGM1 | c.420A>T (p.Ile140=) c.-29+344A>T (n.-29+344A>T) | |
| 14 | g.24261783T>C | CA7131418 | TGM1 | c.420A>G (p.Ile140Met) c.-29+344A>G (n.-29+344A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24261783T>G | CA485665249 | TGM1 | c.420A>C (p.Ile140=) c.-29+344A>C (n.-29+344A>C) | |
| 14 | g.24261783T= | CA2123855931 | TGM1 | c.420A= (p.Ile140=) c.-29+344A= (n.-29+344A=) | |
| 14 | g.24261784A>C | CA389277985 | TGM1 | c.419T>G (p.Ile140Arg) c.-29+343T>G (n.-29+343T>G) | |
| 14 | g.24261784A>G | CA389277987 | TGM1 | c.419T>C (p.Ile140Thr) c.-29+343T>C (n.-29+343T>C) | gnomAD v4 |
| 14 | g.24261784A>T | CA389277989 | TGM1 | c.419T>A (p.Ile140Lys) c.-29+343T>A (n.-29+343T>A) | |
| 14 | g.24261785T>A | CA389278008 | TGM1 | c.418A>T (p.Ile140Leu) c.-29+342A>T (n.-29+342A>T) | |
| 14 | g.24261785T>C | CA7131419 | TGM1 | c.418A>G (p.Ile140Val) c.-29+342A>G (n.-29+342A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24261785T>G | CA389277995 | TGM1 | c.418A>C (p.Ile140Leu) c.-29+342A>C (n.-29+342A>C) | |
| 14 | g.24261785T= | CA2123855932 | TGM1 | c.418A= (p.Ile140=) c.-29+342A= (n.-29+342A=) | |
| 14 | g.24261786C>A | CA485665251 | TGM1 | c.417G>T (p.Leu139=) c.-29+341G>T (n.-29+341G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24261786C= | CA2123855933 | TGM1 | c.417G= (p.Leu139=) c.-29+341G= (n.-29+341G=) | |
| 14 | g.24261786C>G | CA485665252 | TGM1 | c.417G>C (p.Leu139=) c.-29+341G>C (n.-29+341G>C) | |
| 14 | g.24261786C>T | CA485665253 | TGM1 | c.417G>A (p.Leu139=) c.-29+341G>A (n.-29+341G>A) | dbSNP |
| 14 | g.24261787A>C | CA389278015 | TGM1 | c.416T>G (p.Leu139Arg) c.-29+340T>G (n.-29+340T>G) | |
| 14 | g.24261787A>G | CA389278019 | TGM1 | c.416T>C (p.Leu139Pro) c.-29+340T>C (n.-29+340T>C) | |
| 14 | g.24261787A>T | CA389278026 | TGM1 | c.416T>A (p.Leu139Gln) c.-29+340T>A (n.-29+340T>A) | |
| 14 | g.24261788G>A | CA485783337 | TGM1 | c.415C>T (p.Leu139=) c.-29+339C>T (n.-29+339C>T) | ClinVar |
| 14 | g.24261788G>C | CA389278031 | TGM1 | c.415C>G (p.Leu139Val) c.-29+339C>G (n.-29+339C>G) | dbSNP gnomAD v2 |
| 14 | g.24261788G= | CA2123855934 | TGM1 | c.415C= (p.Leu139=) c.-29+339C= (n.-29+339C=) | |
| 14 | g.24261788G>T | CA389278033 | TGM1 | c.415C>A (p.Leu139Met) c.-29+339C>A (n.-29+339C>A) | |
| 14 | g.24261789C>A | CA389278037 | TGM1 | c.414G>T (p.Glu138Asp) c.-29+338G>T (n.-29+338G>T) | |
| 14 | g.24261789C>G | CA389278067 | TGM1 | c.414G>C (p.Glu138Asp) c.-29+338G>C (n.-29+338G>C) | |
| 14 | g.24261789C>T | CA485783339 | TGM1 | c.414G>A (p.Glu138=) c.-29+338G>A (n.-29+338G>A) | |
| 14 | g.24261789_24261792delinsCTCG | CA2123855935 | TGM1 | c.411_414delinsCGAG (p.Asp137=) c.-29+335_-29+338delinsCGAG (n.-29+335_-29+338delinsCGAG) | |
| 14 | g.24261790T>A | CA389278073 | TGM1 | c.413A>T (p.Glu138Val) c.-29+337A>T (n.-29+337A>T) | |
| 14 | g.24261790T>C | CA389278075 | TGM1 | c.413A>G (p.Glu138Gly) c.-29+337A>G (n.-29+337A>G) | |
| 14 | g.24261790T>G | CA389278077 | TGM1 | c.413A>C (p.Glu138Ala) c.-29+337A>C (n.-29+337A>C) | |
| 14 | g.24261794_24261796del | CA613320815 | TGM1 | c.411_413del (p.Asp137del) c.-29+335_-29+337del (n.-29+335_-29+337del) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24261791C>A | CA389278080 | TGM1 | c.412G>T (p.Glu138Ter) c.-29+336G>T (n.-29+336G>T) | gnomAD v4 |
| 14 | g.24261791C= | CA2123855936 | TGM1 | c.412G= (p.Glu138=) c.-29+336G= (n.-29+336G=) | |
| 14 | g.24261791C>G | CA389278087 | TGM1 | c.412G>C (p.Glu138Gln) c.-29+336G>C (n.-29+336G>C) | gnomAD v4 |
| 14 | g.24261791C>T | CA7131420 | TGM1 | c.412G>A (p.Glu138Lys) c.-29+336G>A (n.-29+336G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24261792G>A | CA7131421 | TGM1 | c.411C>T (p.Asp137=) c.-29+335C>T (n.-29+335C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.24261792G>C | CA389278101 | TGM1 | c.411C>G (p.Asp137Glu) c.-29+335C>G (n.-29+335C>G) | dbSNP gnomAD v2 gnomAD v4 |