Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.197705407_197707188dup | CA645372705 | MARS2 | c.2_*1dup (n.2_*1dup) | ClinVar |
2 | g.197706085_197706353delinsGGGGCAACCCTCAGGCGATCACCCCCGAACCATTTCATCACGTAGTTCTTCAGTGGCTGGACGAGGAGCTGCCCGACCTGTCCGTGTCTCGCAGAAGTAGCCACTTGCACTGGGGCATTCCGGTGCCCGGGGATGATTCGCAGACCATCTATGTATGGCTGGATGCCCTGGTCAACTACCTCACTGTAATTGGCTACCCAAATGCTGAGTTCAAATCTTGGTGGCCGGCCACCTCTCATATCATAGGTAAGGACATTCTCAAATTCCAT | CA1319359945 | MARS2 | c.680_948delinsGGGGCAACCCTCAGGCGATCACCCCCGAACCATTTCATCACGTAGTTCTTCAGTGGCTGGACGAGGAGCTGCCCGACCTGTCCGTGTCTCGCAGAAGTAGCCACTTGCACTGGGGCATTCCGGTGCCCGGGGATGATTCGCAGACCATCTATGTATGGCTGGATGCCCTGGTCAACTACCTCACTGTAATTGGCTACCCAAATGCTGAGTTCAAATCTTGGTGGCCGGCCACCTCTCATATCATAGGTAAGGACATTCTCAAATTCCAT (p.Arg227=) | |
2 | g.197706087_197706354del | CA150598 | MARS2 | c.682_949del (p.Gly228ProfsTer9) | ClinVar dbSNP |
2 | g.197706302_197706305delinsTTGG | CA1319360231 | MARS2 | c.897_900delinsTTGG (p.Ser299=) | |
2 | g.197706306_197706308del | CA538917141 | MARS2 | c.901_903del (p.Trp301del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.197706304G>A | CA350213329 | MARS2 | c.899G>A (p.Trp300Ter) | dbSNP gnomAD v4 |
2 | g.197706304G>C | CA350213330 | MARS2 | c.899G>C (p.Trp300Ser) | dbSNP gnomAD v4 |
2 | g.197706304G= | CA1319360234 | MARS2 | c.899G= (p.Trp300=) | |
2 | g.197706304G>T | CA350213331 | MARS2 | c.899G>T (p.Trp300Leu) | |
2 | g.197706305G>A | CA350213332 | MARS2 | c.900G>A (p.Trp300Ter) | |
2 | g.197706305G>C | CA350213333 | MARS2 | c.900G>C (p.Trp300Cys) | |
2 | g.197706305G>T | CA350213334 | MARS2 | c.900G>T (p.Trp300Cys) | |
2 | g.197706306T>A | CA350213335 | MARS2 | c.901T>A (p.Trp301Arg) | |
2 | g.197706306T>C | CA350213336 | MARS2 | c.901T>C (p.Trp301Arg) | gnomAD v4 |
2 | g.197706306T>G | CA350213337 | MARS2 | c.901T>G (p.Trp301Gly) | |
2 | g.197706307G>A | CA350213338 | MARS2 | c.902G>A (p.Trp301Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.197706307G>C | CA350213340 | MARS2 | c.902G>C (p.Trp301Ser) | |
2 | g.197706307G= | CA1319360236 | MARS2 | c.902G= (p.Trp301=) | |
2 | g.197706307G>T | CA350213339 | MARS2 | c.902G>T (p.Trp301Leu) | |
2 | g.197706308G>A | CA350213341 | MARS2 | c.903G>A (p.Trp301Ter) | |
2 | g.197706308G>C | CA350213342 | MARS2 | c.903G>C (p.Trp301Cys) | |
2 | g.197706308G>T | CA350213343 | MARS2 | c.903G>T (p.Trp301Cys) | |
2 | g.197706309C>A | CA350213344 | MARS2 | c.904C>A (p.Pro302Thr) | |
2 | g.197706309C= | CA1319360238 | MARS2 | c.904C= (p.Pro302=) | |
2 | g.197706309C>G | CA350213345 | MARS2 | c.904C>G (p.Pro302Ala) | |
2 | g.197706309C>T | CA62878761 | MARS2 | c.904C>T (p.Pro302Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.197706310C>A | CA350213346 | MARS2 | c.905C>A (p.Pro302Gln) | |
2 | g.197706310C= | CA1319360241 | MARS2 | c.905C= (p.Pro302=) | |
2 | g.197706310C>G | CA350213347 | MARS2 | c.905C>G (p.Pro302Arg) | |
2 | g.197706310C>T | CA350213348 | MARS2 | c.905C>T (p.Pro302Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.197706311G>A | CA2044658 | MARS2 | c.906G>A (p.Pro302=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.197706311G>C | CA430823613 | MARS2 | c.906G>C (p.Pro302=) | |
2 | g.197706311G= | CA1319360244 | MARS2 | c.906G= (p.Pro302=) | |
2 | g.197706311G>T | CA430823611 | MARS2 | c.906G>T (p.Pro302=) | |
2 | g.197706312G>A | CA350213349 | MARS2 | c.907G>A (p.Ala303Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.197706312G>C | CA350213350 | MARS2 | c.907G>C (p.Ala303Pro) | |
2 | g.197706312G= | CA1319360249 | MARS2 | c.907G= (p.Ala303=) | |
2 | g.197706312G>T | CA350213351 | MARS2 | c.907G>T (p.Ala303Ser) | |
2 | g.197706313C>A | CA350213354 | MARS2 | c.908C>A (p.Ala303Asp) | |
2 | g.197706313C>G | CA350213352 | MARS2 | c.908C>G (p.Ala303Gly) | |
2 | g.197706313C>T | CA350213353 | MARS2 | c.908C>T (p.Ala303Val) | |
2 | g.197706314C>A | CA430823628 | MARS2 | c.909C>A (p.Ala303=) | |
2 | g.197706314C>G | CA430823632 | MARS2 | c.909C>G (p.Ala303=) | |
2 | g.197706314C>T | CA430823633 | MARS2 | c.909C>T (p.Ala303=) | |
2 | g.197706315A>C | CA350213355 | MARS2 | c.910A>C (p.Thr304Pro) | |
2 | g.197706315A>G | CA350213356 | MARS2 | c.910A>G (p.Thr304Ala) | |
2 | g.197706315A>T | CA350213357 | MARS2 | c.910A>T (p.Thr304Ser) | |
2 | g.197706316C>A | CA350213358 | MARS2 | c.911C>A (p.Thr304Asn) | |
2 | g.197706316C>G | CA350213359 | MARS2 | c.911C>G (p.Thr304Ser) | |
2 | g.197706316C>T | CA350213360 | MARS2 | c.911C>T (p.Thr304Ile) |