Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.18138907_18138911del | CA2677457472 | TPMT | c.494+53_494+57del (n.494+53_494+57del) c.425+53_425+57del (n.425+53_425+57del) | gnomAD v4 |
6 | g.18138907A>G | CA2677457474 | TPMT | c.494+56T>C (n.494+56T>C) c.425+56T>C (n.425+56T>C) | gnomAD v4 |
6 | g.18138909del | CA2578538818 | TPMT | c.494+54del (n.494+54del) c.425+54del (n.425+54del) | gnomAD v4 |
6 | g.18138909G>A | CA2677457476 | TPMT | c.494+54C>T (n.494+54C>T) c.425+54C>T (n.425+54C>T) | gnomAD v4 |
6 | g.18138909G>T | CA2677457475 | TPMT | c.494+54C>A (n.494+54C>A) c.425+54C>A (n.425+54C>A) | gnomAD v4 |
6 | g.18138911A>C | CA2677457477 | TPMT | c.494+52T>G (n.494+52T>G) c.425+52T>G (n.425+52T>G) | gnomAD v4 |
6 | g.18138911A>G | CA2677457478 | TPMT | c.494+52T>C (n.494+52T>C) c.425+52T>C (n.425+52T>C) | gnomAD v4 |
6 | g.18138912T>C | CA3650166 | TPMT | c.494+51A>G (n.494+51A>G) c.425+51A>G (n.425+51A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.18138912T= | CA1613557457 | TPMT | c.494+51A= (n.494+51A=) c.425+51A= (n.425+51A=) | |
6 | g.18138913A= | CA1613557461 | TPMT | c.494+50T= (n.494+50T=) c.425+50T= (n.425+50T=) | |
6 | g.18138913A>T | CA3650167 | TPMT | c.494+50T>A (n.494+50T>A) c.425+50T>A (n.425+50T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.18138914G>A | CA1613557464 | TPMT | c.494+49C>T (n.494+49C>T) c.425+49C>T (n.425+49C>T) | dbSNP gnomAD v4 |
6 | g.18138914G= | CA1613557463 | TPMT | c.494+49C= (n.494+49C=) c.425+49C= (n.425+49C=) | |
6 | g.18138915T>C | CA2578538819 | TPMT | c.494+48A>G (n.494+48A>G) c.425+48A>G (n.425+48A>G) | |
6 | g.18138916A= | CA1613557465 | TPMT | c.494+47T= (n.494+47T=) c.425+47T= (n.425+47T=) | |
6 | g.18138916A>G | CA1613557466 | TPMT | c.494+47T>C (n.494+47T>C) c.425+47T>C (n.425+47T>C) | dbSNP |
6 | g.18138917T>C | CA2677457479 | TPMT | c.494+46A>G (n.494+46A>G) c.425+46A>G (n.425+46A>G) | gnomAD v4 |
6 | g.18138918A>G | CA2677457480 | TPMT | c.494+45T>C (n.494+45T>C) c.425+45T>C (n.425+45T>C) | gnomAD v4 |
6 | g.18138920T>C | CA565556118 | TPMT | c.494+43A>G (n.494+43A>G) c.425+43A>G (n.425+43A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.18138920T= | CA1613557468 | TPMT | c.494+43A= (n.494+43A=) c.425+43A= (n.425+43A=) | |
6 | g.18138921A= | CA1613557484 | TPMT | c.494+42T= (n.494+42T=) c.425+42T= (n.425+42T=) | |
6 | g.18138921A>C | CA3650168 | TPMT | c.494+42T>G (n.494+42T>G) c.425+42T>G (n.425+42T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.18138921A>G | CA565556119 | TPMT | c.494+42T>C (n.494+42T>C) c.425+42T>C (n.425+42T>C) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.18138926del | CA2677457481 | TPMT | c.494+42del (n.494+42del) c.425+42del (n.425+42del) | gnomAD v4 |
6 | g.18138923A>G | CA2578538820 | TPMT | c.494+40T>C (n.494+40T>C) c.425+40T>C (n.425+40T>C) | gnomAD v4 |
6 | g.18138926A>C | CA2677457482 | TPMT | c.494+37T>G (n.494+37T>G) c.425+37T>G (n.425+37T>G) | gnomAD v4 |
6 | g.18138927T>A | CA2711112878 | TPMT | c.494+36A>T (n.494+36A>T) c.425+36A>T (n.425+36A>T) | dbSNP |
6 | g.18138927T>C | CA2677457483 | TPMT | c.494+36A>G (n.494+36A>G) c.425+36A>G (n.425+36A>G) | gnomAD v4 |
6 | g.18138928T>A | CA2578538821 | TPMT | c.494+35A>T (n.494+35A>T) c.425+35A>T (n.425+35A>T) | |
6 | g.18138928T>C | CA565556120 | TPMT | c.494+35A>G (n.494+35A>G) c.425+35A>G (n.425+35A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.18138928T= | CA1613557488 | TPMT | c.494+35A= (n.494+35A=) c.425+35A= (n.425+35A=) | |
6 | g.18138929A>G | CA2578538823 | TPMT | c.494+34T>C (n.494+34T>C) c.425+34T>C (n.425+34T>C) | |
6 | g.18138930A>T | CA2677457484 | TPMT | c.494+33T>A (n.494+33T>A) c.425+33T>A (n.425+33T>A) | gnomAD v4 |
6 | g.18138931G>C | CA2677457485 | TPMT | c.494+32C>G (n.494+32C>G) c.425+32C>G (n.425+32C>G) | gnomAD v4 |
6 | g.18138932A= | CA1613557491 | TPMT | c.494+31T= (n.494+31T=) c.425+31T= (n.425+31T=) | |
6 | g.18138932A>G | CA2677457486 | TPMT | c.494+31T>C (n.494+31T>C) c.425+31T>C (n.425+31T>C) | gnomAD v4 |
6 | g.18138932A>T | CA3650169 | TPMT | c.494+31T>A (n.494+31T>A) c.425+31T>A (n.425+31T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.18138933C= | CA1613557498 | TPMT | c.494+30G= (n.494+30G=) c.425+30G= (n.425+30G=) | |
6 | g.18138933C>G | CA822716341 | TPMT | c.494+30G>C (n.494+30G>C) c.425+30G>C (n.425+30G>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.18138933_18138937delinsCAGCT | CA1613557495 | TPMT | c.494+26_494+30delinsAGCTG (n.494+26_494+30delinsAGCTG) c.425+26_425+30delinsAGCTG (n.425+26_425+30delinsAGCTG) | |
6 | g.18138935_18138938del | CA565556121 | TPMT | c.494+26_494+29del (n.494+26_494+29del) c.425+26_425+29del (n.425+26_425+29del) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.18138935G>A | CA134966045 | TPMT | c.494+28C>T (n.494+28C>T) c.425+28C>T (n.425+28C>T) | dbSNP gnomAD v4 |
6 | g.18138935G= | CA1613557501 | TPMT | c.494+28C= (n.494+28C=) c.425+28C= (n.425+28C=) | |
6 | g.18138935G>T | CA2677457487 | TPMT | c.494+28C>A (n.494+28C>A) c.425+28C>A (n.425+28C>A) | gnomAD v4 |
6 | g.18138938A>G | CA2677457488 | TPMT | c.494+25T>C (n.494+25T>C) c.425+25T>C (n.425+25T>C) | gnomAD v4 |
6 | g.18138941C>A | CA3650171 | TPMT | c.494+22G>T (n.494+22G>T) c.425+22G>T (n.425+22G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.18138941C= | CA1613557508 | TPMT | c.494+22G= (n.494+22G=) c.425+22G= (n.425+22G=) | |
6 | g.18138941_18138943delinsCAA | CA1613557512 | TPMT | c.494+20_494+22delinsTTG (n.494+20_494+22delinsTTG) c.425+20_425+22delinsTTG (n.425+20_425+22delinsTTG) | |
6 | g.18138948dup | CA2578538827 | TPMT | c.494+21dup (n.494+21dup) c.425+21dup (n.425+21dup) | gnomAD v4 |
6 | g.18138948del | CA3650170 | TPMT | c.494+21del (n.494+21del) c.425+21del (n.425+21del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.18138947_18138948del | CA1086470900 | TPMT | c.494+20_494+21del (n.494+20_494+21del) c.425+20_425+21del (n.425+20_425+21del) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.18138943A= | CA1613557515 | TPMT | c.494+20T= (n.494+20T=) c.425+20T= (n.425+20T=) | |
6 | g.18138943A>C | CA2578538829 | TPMT | c.494+20T>G (n.494+20T>G) c.425+20T>G (n.425+20T>G) | |
6 | g.18138943A>G | CA822716353 | TPMT | c.494+20T>C (n.494+20T>C) c.425+20T>C (n.425+20T>C) | dbSNP gnomAD v4 |
6 | g.18138948A= | CA1613557519 | TPMT | c.494+15T= (n.494+15T=) c.425+15T= (n.425+15T=) | |
6 | g.18138948A>C | CA1613557521 | TPMT | c.494+15T>G (n.494+15T>G) c.425+15T>G (n.425+15T>G) | dbSNP |
6 | g.18138948A>G | CA2677457489 | TPMT | c.494+15T>C (n.494+15T>C) c.425+15T>C (n.425+15T>C) | gnomAD v4 |
6 | g.18138950A= | CA1613557523 | TPMT | c.494+13T= (n.494+13T=) c.425+13T= (n.425+13T=) | |
6 | g.18138950A>G | CA3650172 | TPMT | c.494+13T>C (n.494+13T>C) c.425+13T>C (n.425+13T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.18138954dup | CA2677457490 | TPMT | c.494+13dup (n.494+13dup) c.425+13dup (n.425+13dup) | gnomAD v4 |
6 | g.18138954A>G | CA2677457491 | TPMT | c.494+9T>C (n.494+9T>C) c.425+9T>C (n.425+9T>C) | gnomAD v4 |
6 | g.18138955T>A | CA2578538831 | TPMT | c.494+8A>T (n.494+8A>T) c.425+8A>T (n.425+8A>T) | |
6 | g.18138956T>C | CA2677457492 | TPMT | c.494+7A>G (n.494+7A>G) c.425+7A>G (n.425+7A>G) | gnomAD v4 |
6 | g.18138958C= | CA1613557527 | TPMT | c.494+5G= (n.494+5G=) c.425+5G= (n.425+5G=) | |
6 | g.18138958C>T | CA3650173 | TPMT | c.494+5G>A (n.494+5G>A) c.425+5G>A (n.425+5G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.18138961A>C | CA362835342 | TPMT | c.494+2T>G (n.494+2T>G) c.425+2T>G (n.425+2T>G) | |
6 | g.18138961A>G | CA362835344 | TPMT | c.494+2T>C (n.494+2T>C) c.425+2T>C (n.425+2T>C) | |
6 | g.18138961A>T | CA362835347 | TPMT | c.494+2T>A (n.494+2T>A) c.425+2T>A (n.425+2T>A) | |
6 | g.18138961dup | CA2677457493 | TPMT | c.494+2dup (n.494+2dup) c.425+2dup (n.425+2dup) | gnomAD v4 |
6 | g.18138962C>A | CA362835356 | TPMT | c.494+1G>T (n.494+1G>T) c.425+1G>T (n.425+1G>T) | |
6 | g.18138962C>G | CA362835354 | TPMT | c.494+1G>C (n.494+1G>C) c.425+1G>C (n.425+1G>C) | |
6 | g.18138962C>T | CA362835351 | TPMT | c.494+1G>A (n.494+1G>A) c.425+1G>A (n.425+1G>A) | |
6 | g.18138963C>A | CA362835360 | TPMT | c.494G>T (p.Cys165Phe) c.425G>T (p.Cys142Phe) | |
6 | g.18138963C>G | CA362835362 | TPMT | c.494G>C (p.Cys165Ser) c.425G>C (p.Cys142Ser) | |
6 | g.18138963C>T | CA362835364 | TPMT | c.494G>A (p.Cys165Tyr) c.425G>A (p.Cys142Tyr) | gnomAD v4 |
6 | g.18138964A>C | CA362835367 | TPMT | c.493T>G (p.Cys165Gly) c.424T>G (p.Cys142Gly) | |
6 | g.18138964A>G | CA362835369 | TPMT | c.493T>C (p.Cys165Arg) c.424T>C (p.Cys142Arg) | |
6 | g.18138964A>T | CA362835371 | TPMT | c.493T>A (p.Cys165Ser) c.424T>A (p.Cys142Ser) | |
6 | g.18138965T>A | CA362835373 | TPMT | c.492A>T (p.Lys164Asn) c.423A>T (p.Lys141Asn) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.18138965T>C | CA448765211 | TPMT | c.492A>G (p.Lys164=) c.423A>G (p.Lys141=) | gnomAD v4 |
6 | g.18138965T>G | CA362835375 | TPMT | c.492A>C (p.Lys164Asn) c.423A>C (p.Lys141Asn) | |
6 | g.18138965T= | CA1613557533 | TPMT | c.492A= (p.Lys164=) c.423A= (p.Lys141=) | |
6 | g.18138966T>A | CA362835377 | TPMT | c.491A>T (p.Lys164Ile) c.422A>T (p.Lys141Ile) | |
6 | g.18138966T>C | CA362835379 | TPMT | c.491A>G (p.Lys164Arg) c.422A>G (p.Lys141Arg) | |
6 | g.18138966T>G | CA362835381 | TPMT | c.491A>C (p.Lys164Thr) c.422A>C (p.Lys141Thr) | |
6 | g.18138967T>A | CA362835383 | TPMT | c.490A>T (p.Lys164Ter) c.421A>T (p.Lys141Ter) | |
6 | g.18138967T>C | CA362835385 | TPMT | c.490A>G (p.Lys164Glu) c.421A>G (p.Lys141Glu) | |
6 | g.18138967T>G | CA362835386 | TPMT | c.490A>C (p.Lys164Gln) c.421A>C (p.Lys141Gln) | |
6 | g.18138968G>A | CA448765212 | TPMT | c.489C>T (p.Arg163=) c.420C>T (p.Arg140=) | |
6 | g.18138968G>C | CA448765213 | TPMT | c.489C>G (p.Arg163=) c.420C>G (p.Arg140=) | |
6 | g.18138968G>T | CA448765214 | TPMT | c.489C>A (p.Arg163=) c.420C>A (p.Arg140=) | |
6 | g.18138969C>A | CA362835390 | TPMT | c.488G>T (p.Arg163Leu) c.419G>T (p.Arg140Leu) | |
6 | g.18138969C= | CA1613557544 | TPMT | c.488G= (p.Arg163=) c.419G= (p.Arg140=) | |
6 | g.18138969C>G | CA362835392 | TPMT | c.488G>C (p.Arg163Pro) c.419G>C (p.Arg140Pro) | |
6 | g.18138969C>T | CA3650174 | TPMT | c.488G>A (p.Arg163His) c.419G>A (p.Arg140His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.18138970G>A | CA3650175 | TPMT | c.487C>T (p.Arg163Cys) c.418C>T (p.Arg140Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.18138970G>C | CA362835395 | TPMT | c.487C>G (p.Arg163Gly) c.418C>G (p.Arg140Gly) | |
6 | g.18138970G= | CA1613557553 | TPMT | c.487C= (p.Arg163=) c.418C= (p.Arg140=) | |
6 | g.18138970G>T | CA362835396 | TPMT | c.487C>A (p.Arg163Ser) c.418C>A (p.Arg140Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.18138971A>C | CA362835397 | TPMT | c.486T>G (p.Asp162Glu) c.417T>G (p.Asp139Glu) | |
6 | g.18138971A>G | CA448765215 | TPMT | c.486T>C (p.Asp162=) c.417T>C (p.Asp139=) | |
6 | g.18138971A>T | CA362835399 | TPMT | c.486T>A (p.Asp162Glu) c.417T>A (p.Asp139Glu) | |
6 | g.18138972T>A | CA362835405 | TPMT | c.485A>T (p.Asp162Val) c.416A>T (p.Asp139Val) | |
6 | g.18138972T>C | CA362835403 | TPMT | c.485A>G (p.Asp162Gly) c.416A>G (p.Asp139Gly) | |
6 | g.18138972T>G | CA362835401 | TPMT | c.485A>C (p.Asp162Ala) c.416A>C (p.Asp139Ala) | |
6 | g.18138973C>A | CA362835407 | TPMT | c.484G>T (p.Asp162Tyr) c.415G>T (p.Asp139Tyr) | |
6 | g.18138973C>G | CA362835409 | TPMT | c.484G>C (p.Asp162His) c.415G>C (p.Asp139His) | |
6 | g.18138973C>T | CA362835410 | TPMT | c.484G>A (p.Asp162Asn) c.415G>A (p.Asp139Asn) | |
6 | g.18138974A>C | CA448765217 | TPMT | c.483T>G (p.Gly161=) c.414T>G (p.Gly138=) | gnomAD v4 |
6 | g.18138974A>G | CA448765218 | TPMT | c.483T>C (p.Gly161=) c.414T>C (p.Gly138=) | |
6 | g.18138974A>T | CA448765216 | TPMT | c.483T>A (p.Gly161=) c.414T>A (p.Gly138=) | |
6 | g.18138975C>A | CA362835411 | TPMT | c.482G>T (p.Gly161Val) c.413G>T (p.Gly138Val) | |
6 | g.18138975C= | CA1613557560 | TPMT | c.482G= (p.Gly161=) c.413G= (p.Gly138=) | |
6 | g.18138975C>G | CA362835413 | TPMT | c.482G>C (p.Gly161Ala) c.413G>C (p.Gly138Ala) | |
6 | g.18138975C>T | CA362835414 | TPMT | c.482G>A (p.Gly161Asp) c.413G>A (p.Gly138Asp) | dbSNP gnomAD v4 |
6 | g.18138976C>A | CA362835415 | TPMT | c.481G>T (p.Gly161Cys) c.412G>T (p.Gly138Cys) | |
6 | g.18138976C>G | CA362835417 | TPMT | c.481G>C (p.Gly161Arg) c.412G>C (p.Gly138Arg) | |
6 | g.18138976C>T | CA362835416 | TPMT | c.481G>A (p.Gly161Ser) c.412G>A (p.Gly138Ser) | |
6 | g.18138977T>A | CA448765222 | TPMT | c.480A>T (p.Pro160=) c.411A>T (p.Pro137=) | |
6 | g.18138977T>C | CA448765223 | TPMT | c.480A>G (p.Pro160=) c.411A>G (p.Pro137=) | |
6 | g.18138977T>G | CA448765224 | TPMT | c.480A>C (p.Pro160=) c.411A>C (p.Pro137=) | |
6 | g.18138978G>A | CA362835419 | TPMT | c.479C>T (p.Pro160Leu) c.410C>T (p.Pro137Leu) | gnomAD v4 |
6 | g.18138978G>C | CA362835421 | TPMT | c.479C>G (p.Pro160Arg) c.410C>G (p.Pro137Arg) | |
6 | g.18138978G>T | CA362835423 | TPMT | c.479C>A (p.Pro160Gln) c.410C>A (p.Pro137Gln) | |
6 | g.18138979G>A | CA362835431 | TPMT | c.478C>T (p.Pro160Ser) c.409C>T (p.Pro137Ser) | COSMIC |
6 | g.18138979G>C | CA3650176 | TPMT | c.478C>G (p.Pro160Ala) c.409C>G (p.Pro137Ala) | dbSNP ExAC gnomAD v3 gnomAD v4 |
6 | g.18138979G= | CA1613557569 | TPMT | c.478C= (p.Pro160=) c.409C= (p.Pro137=) | |
6 | g.18138979G>T | CA362835433 | TPMT | c.478C>A (p.Pro160Thr) c.409C>A (p.Pro137Thr) | |
6 | g.18138980A>C | CA362835438 | TPMT | c.477T>G (p.Asn159Lys) c.408T>G (p.Asn136Lys) | |
6 | g.18138980A>G | CA448765226 | TPMT | c.477T>C (p.Asn159=) c.408T>C (p.Asn136=) | |
6 | g.18138980A>T | CA362835439 | TPMT | c.477T>A (p.Asn159Lys) c.408T>A (p.Asn136Lys) | |
6 | g.18138981T>A | CA362835443 | TPMT | c.476A>T (p.Asn159Ile) c.407A>T (p.Asn136Ile) | |
6 | g.18138981T>C | CA362835444 | TPMT | c.476A>G (p.Asn159Ser) c.407A>G (p.Asn136Ser) | |
6 | g.18138981T>G | CA362835446 | TPMT | c.476A>C (p.Asn159Thr) c.407A>C (p.Asn136Thr) | |
6 | g.18138981_18138984delinsTTGA | CA1613557573 | TPMT | c.473_476delinsTCAA (p.Ile158=) c.404_407delinsTCAA (p.Ile135=) | |
6 | g.18138982T>A | CA362835447 | TPMT | c.475A>T (p.Asn159Tyr) c.406A>T (p.Asn136Tyr) | |
6 | g.18138982T>C | CA362835450 | TPMT | c.475A>G (p.Asn159Asp) c.406A>G (p.Asn136Asp) | |
6 | g.18138982T>G | CA362835449 | TPMT | c.475A>C (p.Asn159His) c.406A>C (p.Asn136His) | |
6 | g.18138982_18138983insAAT | CA2677457495 | TPMT | c.475_476insTTA (p.Ile158_Asn159insIle) c.406_407insTTA (p.Ile135_Asn136insIle) | gnomAD v4 |
6 | g.18138984_18138986del | CA917687393 | TPMT | c.473_475del (p.Ile158del) c.404_406del (p.Ile135del) | dbSNP |
6 | g.18138983G>A | CA3650177 | TPMT | c.474C>T (p.Ile158=) c.405C>T (p.Ile135=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.18138983G>C | CA362835451 | TPMT | c.474C>G (p.Ile158Met) c.405C>G (p.Ile135Met) | dbSNP |
6 | g.18138983G= | CA1613557591 | TPMT | c.474C= (p.Ile158=) c.405C= (p.Ile135=) | |
6 | g.18138983G>T | CA448765227 | TPMT | c.474C>A (p.Ile158=) c.405C>A (p.Ile135=) | |
6 | g.18138983_18138984insCTCCTCTATCCCAA | CA2677457497 | TPMT | c.473_474insTTGGGATAGAGGAG (p.Asn159TrpfsTer?) c.404_405insTTGGGATAGAGGAG (p.Asn136TrpfsTer?) | gnomAD v4 |
6 | g.18138984A>C | CA362835453 | TPMT | c.473T>G (p.Ile158Ser) c.404T>G (p.Ile135Ser) | |
6 | g.18138984A>G | CA362835455 | TPMT | c.473T>C (p.Ile158Thr) c.404T>C (p.Ile135Thr) | |
6 | g.18138984A>T | CA362835457 | TPMT | c.473T>A (p.Ile158Asn) c.404T>A (p.Ile135Asn) | gnomAD v4 |
6 | g.18138985T>A | CA362835459 | TPMT | c.472A>T (p.Ile158Phe) c.403A>T (p.Ile135Phe) | |
6 | g.18138985T>C | CA3650178 | TPMT | c.472A>G (p.Ile158Val) c.403A>G (p.Ile135Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.18138985T>G | CA362835463 | TPMT | c.472A>C (p.Ile158Leu) c.403A>C (p.Ile135Leu) | |
6 | g.18138985T= | CA1613557595 | TPMT | c.472A= (p.Ile158=) c.403A= (p.Ile135=) | |
6 | g.18138986G>A | CA448765228 | TPMT | c.471C>T (p.Ala157=) c.402C>T (p.Ala134=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.18138986G>C | CA448765229 | TPMT | c.471C>G (p.Ala157=) c.402C>G (p.Ala134=) | |
6 | g.18138986G= | CA1613557599 | TPMT | c.471C= (p.Ala157=) c.402C= (p.Ala134=) | |
6 | g.18138986G>T | CA448765230 | TPMT | c.471C>A (p.Ala157=) c.402C>A (p.Ala134=) | |
6 | g.18138987G>A | CA362835465 | TPMT | c.470C>T (p.Ala157Val) c.401C>T (p.Ala134Val) | |
6 | g.18138987G>C | CA362835467 | TPMT | c.470C>G (p.Ala157Gly) c.401C>G (p.Ala134Gly) | |
6 | g.18138987G>T | CA362835469 | TPMT | c.470C>A (p.Ala157Asp) c.401C>A (p.Ala134Asp) | |
6 | g.18138988C>A | CA362835470 | TPMT | c.469G>T (p.Ala157Ser) c.400G>T (p.Ala134Ser) | |
6 | g.18138988C>G | CA362835475 | TPMT | c.469G>C (p.Ala157Pro) c.400G>C (p.Ala134Pro) | |
6 | g.18138988C>T | CA362835476 | TPMT | c.469G>A (p.Ala157Thr) c.400G>A (p.Ala134Thr) | gnomAD v4 |
6 | g.18138989A>C | CA448765232 | TPMT | c.468T>G (p.Val156=) c.399T>G (p.Val133=) | |
6 | g.18138989A>G | CA448765233 | TPMT | c.468T>C (p.Val156=) c.399T>C (p.Val133=) | |
6 | g.18138989A>T | CA448765234 | TPMT | c.468T>A (p.Val156=) c.399T>A (p.Val133=) | |
6 | g.18138990A>C | CA362835477 | TPMT | c.467T>G (p.Val156Gly) c.398T>G (p.Val133Gly) | |
6 | g.18138990A>G | CA362835479 | TPMT | c.467T>C (p.Val156Ala) c.398T>C (p.Val133Ala) | |
6 | g.18138990A>T | CA362835478 | TPMT | c.467T>A (p.Val156Asp) c.398T>A (p.Val133Asp) | |
6 | g.18138991C>A | CA362835481 | TPMT | c.466G>T (p.Val156Phe) c.397G>T (p.Val133Phe) | |
6 | g.18138991C>G | CA362835483 | TPMT | c.466G>C (p.Val156Leu) c.397G>C (p.Val133Leu) | |
6 | g.18138991C>T | CA362835484 | TPMT | c.466G>A (p.Val156Ile) c.397G>A (p.Val133Ile) | |
6 | g.18138992T>A | CA362835485 | TPMT | c.465A>T (p.Leu155Phe) c.396A>T (p.Leu132Phe) | |
6 | g.18138992T>C | CA448765235 | TPMT | c.465A>G (p.Leu155=) c.396A>G (p.Leu132=) | |
6 | g.18138992T>G | CA362835490 | TPMT | c.465A>C (p.Leu155Phe) c.396A>C (p.Leu132Phe) | |
6 | g.18138993A= | CA1613557603 | TPMT | c.464T= (p.Leu155=) c.395T= (p.Leu132=) | |
6 | g.18138993A>C | CA362835492 | TPMT | c.464T>G (p.Leu155Ter) c.395T>G (p.Leu132Ter) | |
6 | g.18138993A>G | CA362835493 | TPMT | c.464T>C (p.Leu155Ser) c.395T>C (p.Leu132Ser) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.18138993A>T | CA362835495 | TPMT | c.464T>A (p.Leu155Ter) c.395T>A (p.Leu132Ter) | |
6 | g.18138994A>C | CA362835497 | TPMT | c.463T>G (p.Leu155Val) c.394T>G (p.Leu132Val) | |
6 | g.18138994A>G | CA448765236 | TPMT | c.463T>C (p.Leu155=) c.394T>C (p.Leu132=) | |
6 | g.18138994A>T | CA362835507 | TPMT | c.463T>A (p.Leu155Ile) c.394T>A (p.Leu132Ile) | |
6 | g.18138995T>A | CA448765237 | TPMT | c.462A>T (p.Ala154=) c.393A>T (p.Ala131=) | |
6 | g.18138995T>C | CA448765239 | TPMT | c.462A>G (p.Ala154=) c.393A>G (p.Ala131=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.18138995T>G | CA448765238 | TPMT | c.462A>C (p.Ala154=) c.393A>C (p.Ala131=) | |
6 | g.18138995T= | CA1613557611 | TPMT | c.462A= (p.Ala154=) c.393A= (p.Ala131=) | |
6 | g.18138996G>A | CA362835513 | TPMT | c.461C>T (p.Ala154Val) c.392C>T (p.Ala131Val) | |
6 | g.18138996G>C | CA362835515 | TPMT | c.461C>G (p.Ala154Gly) c.392C>G (p.Ala131Gly) | |
6 | g.18138996G= | CA1613557623 | TPMT | c.461C= (p.Ala154=) c.392C= (p.Ala131=) | |
6 | g.18138996G>T | CA362835510 | TPMT | c.461C>A (p.Ala154Glu) c.392C>A (p.Ala131Glu) | |
6 | g.18138997C>A | CA362835519 | TPMT | c.460G>T (p.Ala154Ser) c.391G>T (p.Ala131Ser) | dbSNP gnomAD v4 |
6 | g.18138997C= | CA891834522 | TPMT | c.460G= (p.Ala154=) c.391G= (p.Ala131=) | |
6 | g.18138997C>G | CA362835520 | TPMT | c.460G>C (p.Ala154Pro) c.391G>C (p.Ala131Pro) | |
6 | g.18138997C>T | CA122645 | TPMT | c.460G>A (p.Ala154Thr) c.391G>A (p.Ala131Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.18139000_18139002dup | CA822716420 | TPMT | c.458_460dup (p.Gly153_Ala154insGly) c.389_391dup (p.Gly130_Ala131insGly) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.18138998T>A | CA448765242 | TPMT | c.459A>T (p.Gly153=) c.390A>T (p.Gly130=) | |
6 | g.18138998T>C | CA448765243 | TPMT | c.459A>G (p.Gly153=) c.390A>G (p.Gly130=) | |
6 | g.18138998T>G | CA448765244 | TPMT | c.459A>C (p.Gly153=) c.390A>C (p.Gly130=) | |
6 | g.18138999C>A | CA362835524 | TPMT | c.458G>T (p.Gly153Val) c.389G>T (p.Gly130Val) | |
6 | g.18138999C>G | CA362835526 | TPMT | c.458G>C (p.Gly153Ala) c.389G>C (p.Gly130Ala) | |
6 | g.18138999C>T | CA362835530 | TPMT | c.458G>A (p.Gly153Glu) c.389G>A (p.Gly130Glu) | |
6 | g.18139000C>A | CA362835532 | TPMT | c.457G>T (p.Gly153Ter) c.388G>T (p.Gly130Ter) | |
6 | g.18139000C>G | CA362835533 | TPMT | c.457G>C (p.Gly153Arg) c.388G>C (p.Gly130Arg) | |
6 | g.18139000C>T | CA362835536 | TPMT | c.457G>A (p.Gly153Arg) c.388G>A (p.Gly130Arg) | |
6 | g.18139001T>A | CA362835543 | TPMT | c.456A>T (p.Arg152Ser) c.387A>T (p.Arg129Ser) | |
6 | g.18139001T>C | CA448765249 | TPMT | c.456A>G (p.Arg152=) c.387A>G (p.Arg129=) | |
6 | g.18139001T>G | CA362835545 | TPMT | c.456A>C (p.Arg152Ser) c.387A>C (p.Arg129Ser) | |
6 | g.18139002C>A | CA362835547 | TPMT | c.455G>T (p.Arg152Ile) c.386G>T (p.Arg129Ile) | |
6 | g.18139002C= | CA1613557636 | TPMT | c.455G= (p.Arg152=) c.386G= (p.Arg129=) | |
6 | g.18139002C>G | CA362835549 | TPMT | c.455G>C (p.Arg152Thr) c.386G>C (p.Arg129Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.18139002C>T | CA362835550 | TPMT | c.455G>A (p.Arg152Lys) c.386G>A (p.Arg129Lys) | |
6 | g.18139003T>A | CA362835551 | TPMT | c.454A>T (p.Arg152Ter) c.385A>T (p.Arg129Ter) | |
6 | g.18139003T>C | CA362835553 | TPMT | c.454A>G (p.Arg152Gly) c.385A>G (p.Arg129Gly) | |
6 | g.18139003T>G | CA448765250 | TPMT | c.454A>C (p.Arg152=) c.385A>C (p.Arg129=) | gnomAD v4 |
6 | g.18139004A= | CA1613557642 | TPMT | c.453T= (p.Asp151=) c.384T= (p.Asp128=) | |
6 | g.18139004A>C | CA362835555 | TPMT | c.453T>G (p.Asp151Glu) c.384T>G (p.Asp128Glu) | |
6 | g.18139004A>G | CA3650179 | TPMT | c.453T>C (p.Asp151=) c.384T>C (p.Asp128=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.18139004A>T | CA362835561 | TPMT | c.453T>A (p.Asp151Glu) c.384T>A (p.Asp128Glu) | |
6 | g.18139005T>A | CA362835562 | TPMT | c.452A>T (p.Asp151Val) c.383A>T (p.Asp128Val) | |
6 | g.18139005T>C | CA362835564 | TPMT | c.452A>G (p.Asp151Gly) c.383A>G (p.Asp128Gly) | |
6 | g.18139005T>G | CA362835565 | TPMT | c.452A>C (p.Asp151Ala) c.383A>C (p.Asp128Ala) | |
6 | g.18139006C>A | CA362835566 | TPMT | c.451G>T (p.Asp151Tyr) c.382G>T (p.Asp128Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.18139006C= | CA1613557648 | TPMT | c.451G= (p.Asp151=) c.382G= (p.Asp128=) | |
6 | g.18139006C>G | CA362835569 | TPMT | c.451G>C (p.Asp151His) c.382G>C (p.Asp128His) | |
6 | g.18139006C>T | CA362835570 | TPMT | c.451G>A (p.Asp151Asn) c.382G>A (p.Asp128Asn) | |
6 | g.18139006_18139007insACTTT | CA2530385263 | TPMT | c.450_451insAAAGT (p.Asp151LysfsTer7) c.381_382insAAAGT (p.Asp128LysfsTer7) | |
6 | g.18139007C>A | CA362835574 | TPMT | c.450G>T (p.Trp150Cys) c.381G>T (p.Trp127Cys) | |
6 | g.18139007C>G | CA362835577 | TPMT | c.450G>C (p.Trp150Cys) c.381G>C (p.Trp127Cys) | |
6 | g.18139007C>T | CA362835580 | TPMT | c.450G>A (p.Trp150Ter) c.381G>A (p.Trp127Ter) |