| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.59269136del | CA630396729 | RAX | c.911del (p.Pro304ArgfsTer27) c.*342del (n.*342del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269136G>A | CA504297012 | RAX | c.909C>T (p.Tyr303=) c.*340C>T (n.*340C>T) | |
| 18 | g.59269136G>C | CA118941 | RAX | c.909C>G (p.Tyr303Ter) c.*340C>G (n.*340C>G) | ClinVar dbSNP |
| 18 | g.59269136G= | CA2306830764 | RAX | c.909C= (p.Tyr303=) c.*340C= (n.*340C=) | |
| 18 | g.59269136G>T | CA402583940 | RAX | c.909C>A (p.Tyr303Ter) c.*340C>A (n.*340C>A) | gnomAD v4 |
| 18 | g.59269137T>A | CA402583943 | RAX | c.908A>T (p.Tyr303Phe) c.*339A>T (n.*339A>T) | |
| 18 | g.59269137T>C | CA402583944 | RAX | c.908A>G (p.Tyr303Cys) c.*339A>G (n.*339A>G) | |
| 18 | g.59269137T>G | CA402583947 | RAX | c.908A>C (p.Tyr303Ser) c.*339A>C (n.*339A>C) | |
| 18 | g.59269138A>C | CA402583949 | RAX | c.907T>G (p.Tyr303Asp) c.*338T>G (n.*338T>G) | |
| 18 | g.59269138A>G | CA402583951 | RAX | c.907T>C (p.Tyr303His) c.*338T>C (n.*338T>C) | |
| 18 | g.59269138A>T | CA402583953 | RAX | c.907T>A (p.Tyr303Asn) c.*338T>A (n.*338T>A) | |
| 18 | g.59269138_59269141dup | CA2642011313 | RAX | c.904_907dup (p.Tyr303PhefsTer?) c.*335_*338dup (n.*335_*338dup) | gnomAD v4 |
| 18 | g.59269139G>A | CA504297018 | RAX | c.906C>T (p.Ser302=) c.*337C>T (n.*337C>T) | |
| 18 | g.59269139G>C | CA504297019 | RAX | c.906C>G (p.Ser302=) c.*337C>G (n.*337C>G) | |
| 18 | g.59269139G>T | CA504297020 | RAX | c.906C>A (p.Ser302=) c.*337C>A (n.*337C>A) | gnomAD v4 |
| 18 | g.59269140G>A | CA402583955 | RAX | c.905C>T (p.Ser302Phe) c.*336C>T (n.*336C>T) | gnomAD v4 |
| 18 | g.59269140G>C | CA402583957 | RAX | c.905C>G (p.Ser302Cys) c.*336C>G (n.*336C>G) | dbSNP gnomAD v4 |
| 18 | g.59269140G= | CA2306830767 | RAX | c.905C= (p.Ser302=) c.*336C= (n.*336C=) | |
| 18 | g.59269140G>T | CA402583959 | RAX | c.905C>A (p.Ser302Tyr) c.*336C>A (n.*336C>A) | |
| 18 | g.59269140_59269141insC | CA2526874724 | RAX | c.904_905insG (p.Ser302CysfsTer?) c.*335_*336insG (n.*335_*336insG) | |
| 18 | g.59269141A= | CA2306830769 | RAX | c.904T= (p.Ser302=) c.*335T= (n.*335T=) | |
| 18 | g.59269141A>C | CA402583963 | RAX | c.904T>G (p.Ser302Ala) c.*335T>G (n.*335T>G) | gnomAD v4 |
| 18 | g.59269141A>G | CA402583961 | RAX | c.904T>C (p.Ser302Pro) c.*335T>C (n.*335T>C) | |
| 18 | g.59269141A>T | CA402583960 | RAX | c.904T>A (p.Ser302Thr) c.*335T>A (n.*335T>A) | |
| 18 | g.59269141dup | CA2642011314 | RAX | c.904dup (p.Ser302PhefsTer?) c.*335dup (n.*335dup) | gnomAD v4 |
| 18 | g.59269142G>A | CA504297026 | RAX | c.903C>T (p.Pro301=) c.*334C>T (n.*334C>T) | dbSNP |
| 18 | g.59269142G>C | CA504297028 | RAX | c.903C>G (p.Pro301=) c.*334C>G (n.*334C>G) | |
| 18 | g.59269142G= | CA2306830771 | RAX | c.903C= (p.Pro301=) c.*334C= (n.*334C=) | |
| 18 | g.59269142G>T | CA504297031 | RAX | c.903C>A (p.Pro301=) c.*334C>A (n.*334C>A) | gnomAD v4 |
| 18 | g.59269142_59269144dup | CA8979247 | RAX | c.901_903dup (p.Pro301_Ser302insPro) c.*332_*334dup (n.*332_*334dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269144del | CA2642011315 | RAX | c.903del (p.Ser302ProfsTer29) c.*334del (n.*334del) | gnomAD v4 |
| 18 | g.59269143G>A | CA8979250 | RAX | c.902C>T (p.Pro301Leu) c.*333C>T (n.*333C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269143G>C | CA402583970 | RAX | c.902C>G (p.Pro301Arg) c.*333C>G (n.*333C>G) | |
| 18 | g.59269143G= | CA2306830774 | RAX | c.902C= (p.Pro301=) c.*333C= (n.*333C=) | |
| 18 | g.59269143G>T | CA402583971 | RAX | c.902C>A (p.Pro301His) c.*333C>A (n.*333C>A) | gnomAD v4 |
| 18 | g.59269143_59269144insAG | CA2503768803 | RAX | c.902_903insTC (p.Ser302ProfsTer30) c.*333_*334insTC (n.*333_*334insTC) | |
| 18 | g.59269153_59269155dup | CA8979248 | RAX | c.900_902dup (p.Pro301_Ser302insPro) c.*331_*333dup (n.*331_*333dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269150_59269155dup | CA8979249 | RAX | c.897_902dup (p.Pro301_Ser302insProPro) c.*328_*333dup (n.*328_*333dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.59269153_59269155del | CA630396730 | RAX | c.900_902del (p.Pro301del) c.*331_*333del (n.*331_*333del) | gnomAD v2 gnomAD v4 |
| 18 | g.59269154_59269216del | CA2642011316 | RAX | c.840_902del (p.Pro281_Pro301del) c.*271_*333del (n.*271_*333del) | gnomAD v4 |
| 18 | g.59269144G>A | CA402583974 | RAX | c.901C>T (p.Pro301Ser) c.*332C>T (n.*332C>T) | gnomAD v4 |
| 18 | g.59269144G>C | CA402583976 | RAX | c.901C>G (p.Pro301Ala) c.*332C>G (n.*332C>G) | |
| 18 | g.59269144G>T | CA402583978 | RAX | c.901C>A (p.Pro301Thr) c.*332C>A (n.*332C>A) | |
| 18 | g.59269145C>A | CA504297039 | RAX | c.900G>T (p.Pro300=) c.*331G>T (n.*331G>T) | gnomAD v4 |
| 18 | g.59269145C>G | CA504297040 | RAX | c.900G>C (p.Pro300=) c.*331G>C (n.*331G>C) | |
| 18 | g.59269145C>T | CA504297044 | RAX | c.900G>A (p.Pro300=) c.*331G>A (n.*331G>A) | gnomAD v4 |
| 18 | g.59269146G>A | CA402583980 | RAX | c.899C>T (p.Pro300Leu) c.*330C>T (n.*330C>T) | dbSNP |
| 18 | g.59269146G>C | CA402583982 | RAX | c.899C>G (p.Pro300Arg) c.*330C>G (n.*330C>G) | |
| 18 | g.59269146G= | CA2306830777 | RAX | c.899C= (p.Pro300=) c.*330C= (n.*330C=) | |
| 18 | g.59269146G>T | CA402583984 | RAX | c.899C>A (p.Pro300Gln) c.*330C>A (n.*330C>A) | gnomAD v4 |