OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.90760949A= | CA2195277088 | BLM | c.1576A= (p.Thr526=) c.*500A= (n.*500A=) c.451A= (p.Thr151=) c.262A= (p.Thr88=) | |
| 15 | g.90760949A>C | CA393843361 | BLM | c.1576A>C (p.Thr526Pro) c.*500A>C (n.*500A>C) c.451A>C (p.Thr151Pro) c.262A>C (p.Thr88Pro) | gnomAD v4 COSMIC |
| 15 | g.90760949A>G | CA7738561 | BLM | c.1576A>G (p.Thr526Ala) c.*500A>G (n.*500A>G) c.451A>G (p.Thr151Ala) c.262A>G (p.Thr88Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90760949A>T | CA393843362 | BLM | c.1576A>T (p.Thr526Ser) c.*500A>T (n.*500A>T) c.451A>T (p.Thr151Ser) c.262A>T (p.Thr88Ser) | |
| 15 | g.90760950C>A | CA393843363 | BLM | c.1577C>A (p.Thr526Lys) c.*501C>A (n.*501C>A) c.452C>A (p.Thr151Lys) c.263C>A (p.Thr88Lys) | |
| 15 | g.90760950C>G | CA393843364 | BLM | c.1577C>G (p.Thr526Arg) c.*501C>G (n.*501C>G) c.452C>G (p.Thr151Arg) c.263C>G (p.Thr88Arg) | |
| 15 | g.90760950C>T | CA393843365 | BLM | c.1577C>T (p.Thr526Ile) c.*501C>T (n.*501C>T) c.452C>T (p.Thr151Ile) c.263C>T (p.Thr88Ile) | |
| 15 | g.90760951A= | CA2195277090 | BLM | c.1578A= (p.Thr526=) c.*502A= (n.*502A=) c.453A= (p.Thr151=) c.264A= (p.Thr88=) | |
| 15 | g.90760951A>C | CA492301708 | BLM | c.1578A>C (p.Thr526=) c.*502A>C (n.*502A>C) c.453A>C (p.Thr151=) c.264A>C (p.Thr88=) | ClinVar dbSNP |
| 15 | g.90760951A>G | CA492301709 | BLM | c.1578A>G (p.Thr526=) c.*502A>G (n.*502A>G) c.453A>G (p.Thr151=) c.264A>G (p.Thr88=) | |
| 15 | g.90760951A>T | CA492301710 | BLM | c.1578A>T (p.Thr526=) c.*502A>T (n.*502A>T) c.453A>T (p.Thr151=) c.264A>T (p.Thr88=) | |
| 15 | g.90760952A= | CA2195277092 | BLM | c.1579A= (p.Ser527=) c.*503A= (n.*503A=) c.454A= (p.Ser152=) c.265A= (p.Ser89=) | |
| 15 | g.90760952A>C | CA393843368 | BLM | c.1579A>C (p.Ser527Arg) c.*503A>C (n.*503A>C) c.454A>C (p.Ser152Arg) c.265A>C (p.Ser89Arg) | ClinVar gnomAD v4 |
| 15 | g.90760952A>G | CA393843366 | BLM | c.1579A>G (p.Ser527Gly) c.*503A>G (n.*503A>G) c.454A>G (p.Ser152Gly) c.265A>G (p.Ser89Gly) | dbSNP |
| 15 | g.90760952A>T | CA393843367 | BLM | c.1579A>T (p.Ser527Cys) c.*503A>T (n.*503A>T) c.454A>T (p.Ser152Cys) c.265A>T (p.Ser89Cys) | |
| 15 | g.90760953G>A | CA393843369 | BLM | c.1580G>A (p.Ser527Asn) c.*504G>A (n.*504G>A) c.455G>A (p.Ser152Asn) c.266G>A (p.Ser89Asn) | |
| 15 | g.90760953G>C | CA393843370 | BLM | c.1580G>C (p.Ser527Thr) c.*504G>C (n.*504G>C) c.455G>C (p.Ser152Thr) c.266G>C (p.Ser89Thr) | |
| 15 | g.90760953G>T | CA393843371 | BLM | c.1580G>T (p.Ser527Ile) c.*504G>T (n.*504G>T) c.455G>T (p.Ser152Ile) c.266G>T (p.Ser89Ile) | |
| 15 | g.90760954C>A | CA393843372 | BLM | c.1581C>A (p.Ser527Arg) c.*505C>A (n.*505C>A) c.456C>A (p.Ser152Arg) c.267C>A (p.Ser89Arg) | ClinVar |
| 15 | g.90760954C>G | CA393843373 | BLM | c.1581C>G (p.Ser527Arg) c.*505C>G (n.*505C>G) c.456C>G (p.Ser152Arg) c.267C>G (p.Ser89Arg) | gnomAD v4 |
| 15 | g.90760954C>T | CA492301712 | BLM | c.1581C>T (p.Ser527=) c.*505C>T (n.*505C>T) c.456C>T (p.Ser152=) c.267C>T (p.Ser89=) | dbSNP |
| 15 | g.90760955A>C | CA393843374 | BLM | c.1582A>C (p.Thr528Pro) c.*506A>C (n.*506A>C) c.457A>C (p.Thr153Pro) c.268A>C (p.Thr90Pro) | |
| 15 | g.90760955A>G | CA393843376 | BLM | c.1582A>G (p.Thr528Ala) c.*506A>G (n.*506A>G) c.457A>G (p.Thr153Ala) c.268A>G (p.Thr90Ala) | ClinVar |
| 15 | g.90760955A>T | CA393843375 | BLM | c.1582A>T (p.Thr528Ser) c.*506A>T (n.*506A>T) c.457A>T (p.Thr153Ser) c.268A>T (p.Thr90Ser) | |
| 15 | g.90760955_90760956insTTG | CA2580090385 | BLM | c.1582_1583insTTG (p.Thr528delinsIleAla) c.*506_*507insTTG (n.*506_*507insTTG) c.457_458insTTG (p.Thr153delinsIleAla) c.268_269insTTG (p.Thr90delinsIleAla) | ClinVar |
| 15 | g.90760956C>A | CA393843377 | BLM | c.1583C>A (p.Thr528Asn) c.*507C>A (n.*507C>A) c.458C>A (p.Thr153Asn) c.269C>A (p.Thr90Asn) | |
| 15 | g.90760956C= | CA2195277093 | BLM | c.1583C= (p.Thr528=) c.*507C= (n.*507C=) c.458C= (p.Thr153=) c.269C= (p.Thr90=) | |
| 15 | g.90760956C>G | CA393843378 | BLM | c.1583C>G (p.Thr528Ser) c.*507C>G (n.*507C>G) c.458C>G (p.Thr153Ser) c.269C>G (p.Thr90Ser) | |
| 15 | g.90760956C>T | CA393843379 | BLM | c.1583C>T (p.Thr528Ile) c.*507C>T (n.*507C>T) c.458C>T (p.Thr153Ile) c.269C>T (p.Thr90Ile) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90760957T>A | CA492301716 | BLM | c.1584T>A (p.Thr528=) c.*508T>A (n.*508T>A) c.459T>A (p.Thr153=) c.270T>A (p.Thr90=) | |
| 15 | g.90760957T>C | CA492301717 | BLM | c.1584T>C (p.Thr528=) c.*508T>C (n.*508T>C) c.459T>C (p.Thr153=) c.270T>C (p.Thr90=) | |
| 15 | g.90760957T>G | CA7738562 | BLM | c.1584T>G (p.Thr528=) c.*508T>G (n.*508T>G) c.459T>G (p.Thr153=) c.270T>G (p.Thr90=) | ClinVar dbSNP ExAC gnomAD v2 |
| 15 | g.90760957T= | CA2195277095 | BLM | c.1584T= (p.Thr528=) c.*508T= (n.*508T=) c.459T= (p.Thr153=) c.270T= (p.Thr90=) | |
| 15 | g.90760958G>A | CA393843380 | BLM | c.1585G>A (p.Ala529Thr) c.*509G>A (n.*509G>A) c.460G>A (p.Ala154Thr) c.271G>A (p.Ala91Thr) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90760958G>C | CA393843381 | BLM | c.1585G>C (p.Ala529Pro) c.*509G>C (n.*509G>C) c.460G>C (p.Ala154Pro) c.271G>C (p.Ala91Pro) | |
| 15 | g.90760958G>T | CA393843382 | BLM | c.1585G>T (p.Ala529Ser) c.*509G>T (n.*509G>T) c.460G>T (p.Ala154Ser) c.271G>T (p.Ala91Ser) | |
| 15 | g.90760959C>A | CA393843383 | BLM | c.1586C>A (p.Ala529Asp) c.*510C>A (n.*510C>A) c.461C>A (p.Ala154Asp) c.272C>A (p.Ala91Asp) | |
| 15 | g.90760959C>G | CA393843384 | BLM | c.1586C>G (p.Ala529Gly) c.*510C>G (n.*510C>G) c.461C>G (p.Ala154Gly) c.272C>G (p.Ala91Gly) | |
| 15 | g.90760959C>T | CA393843385 | BLM | c.1586C>T (p.Ala529Val) c.*510C>T (n.*510C>T) c.461C>T (p.Ala154Val) c.272C>T (p.Ala91Val) | |
| 15 | g.90760960T>A | CA492301719 | BLM | c.1587T>A (p.Ala529=) c.*511T>A (n.*511T>A) c.462T>A (p.Ala154=) c.273T>A (p.Ala91=) | ClinVar |
| 15 | g.90760960T>C | CA492301720 | BLM | c.1587T>C (p.Ala529=) c.*511T>C (n.*511T>C) c.462T>C (p.Ala154=) c.273T>C (p.Ala91=) | |
| 15 | g.90760960T>G | CA492301721 | BLM | c.1587T>G (p.Ala529=) c.*511T>G (n.*511T>G) c.462T>G (p.Ala154=) c.273T>G (p.Ala91=) | |
| 15 | g.90760961G>A | CA393843388 | BLM | c.1588G>A (p.Val530Met) c.*512G>A (n.*512G>A) c.463G>A (p.Val155Met) c.274G>A (p.Val92Met) | dbSNP |
| 15 | g.90760961G>C | CA393843387 | BLM | c.1588G>C (p.Val530Leu) c.*512G>C (n.*512G>C) c.463G>C (p.Val155Leu) c.274G>C (p.Val92Leu) | |
| 15 | g.90760961G>T | CA393843386 | BLM | c.1588G>T (p.Val530Leu) c.*512G>T (n.*512G>T) c.463G>T (p.Val155Leu) c.274G>T (p.Val92Leu) | |
| 15 | g.90760962T>A | CA393843389 | BLM | c.1589T>A (p.Val530Glu) c.*513T>A (n.*513T>A) c.464T>A (p.Val155Glu) c.275T>A (p.Val92Glu) | |
| 15 | g.90760962T>C | CA393843390 | BLM | c.1589T>C (p.Val530Ala) c.*513T>C (n.*513T>C) c.464T>C (p.Val155Ala) c.275T>C (p.Val92Ala) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90760962T>G | CA393843391 | BLM | c.1589T>G (p.Val530Gly) c.*513T>G (n.*513T>G) c.464T>G (p.Val155Gly) c.275T>G (p.Val92Gly) | |
| 15 | g.90760963G>A | CA492301724 | BLM | c.1590G>A (p.Val530=) c.*514G>A (n.*514G>A) c.465G>A (p.Val155=) c.276G>A (p.Val92=) | ClinVar |
| 15 | g.90760963G>C | CA492301725 | BLM | c.1590G>C (p.Val530=) c.*514G>C (n.*514G>C) c.465G>C (p.Val155=) c.276G>C (p.Val92=) | |
| 15 | g.90760963G>T | CA492301726 | BLM | c.1590G>T (p.Val530=) c.*514G>T (n.*514G>T) c.465G>T (p.Val155=) c.276G>T (p.Val92=) | |
| 15 | g.90760964A>C | CA393843392 | BLM | c.1591A>C (p.Lys531Gln) c.*515A>C (n.*515A>C) c.466A>C (p.Lys156Gln) c.277A>C (p.Lys93Gln) | |
| 15 | g.90760964A>G | CA393843393 | BLM | c.1591A>G (p.Lys531Glu) c.*515A>G (n.*515A>G) c.466A>G (p.Lys156Glu) c.277A>G (p.Lys93Glu) | |
| 15 | g.90760964A>T | CA393843394 | BLM | c.1591A>T (p.Lys531Ter) c.*515A>T (n.*515A>T) c.466A>T (p.Lys156Ter) c.277A>T (p.Lys93Ter) | |
| 15 | g.90760965A= | CA2195277097 | BLM | c.1592A= (p.Lys531=) c.*516A= (n.*516A=) c.467A= (p.Lys156=) c.278A= (p.Lys93=) | |
| 15 | g.90760965A>C | CA393843397 | BLM | c.1592A>C (p.Lys531Thr) c.*516A>C (n.*516A>C) c.467A>C (p.Lys156Thr) c.278A>C (p.Lys93Thr) | ClinVar dbSNP |
| 15 | g.90760965A>G | CA393843395 | BLM | c.1592A>G (p.Lys531Arg) c.*516A>G (n.*516A>G) c.467A>G (p.Lys156Arg) c.278A>G (p.Lys93Arg) | |
| 15 | g.90760965A>T | CA393843396 | BLM | c.1592A>T (p.Lys531Ile) c.*516A>T (n.*516A>T) c.467A>T (p.Lys156Ile) c.278A>T (p.Lys93Ile) | |
| 15 | g.90760966A= | CA2195277099 | BLM | c.1593A= (p.Lys531=) c.*517A= (n.*517A=) c.468A= (p.Lys156=) c.279A= (p.Lys93=) | |
| 15 | g.90760966A>C | CA393843398 | BLM | c.1593A>C (p.Lys531Asn) c.*517A>C (n.*517A>C) c.468A>C (p.Lys156Asn) c.279A>C (p.Lys93Asn) | gnomAD v4 |
| 15 | g.90760966A>G | CA492301728 | BLM | c.1593A>G (p.Lys531=) c.*517A>G (n.*517A>G) c.468A>G (p.Lys156=) c.279A>G (p.Lys93=) | gnomAD v4 COSMIC |
| 15 | g.90760966A>T | CA393843399 | BLM | c.1593A>T (p.Lys531Asn) c.*517A>T (n.*517A>T) c.468A>T (p.Lys156Asn) c.279A>T (p.Lys93Asn) | ClinVar dbSNP |
| 15 | g.90760967G>A | CA7738563 | BLM | c.1594G>A (p.Asp532Asn) c.*518G>A (n.*518G>A) c.469G>A (p.Asp157Asn) c.280G>A (p.Asp94Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.90760967G>C | CA393843400 | BLM | c.1594G>C (p.Asp532His) c.*518G>C (n.*518G>C) c.469G>C (p.Asp157His) c.280G>C (p.Asp94His) | ClinVar dbSNP |
| 15 | g.90760967G= | CA2195277101 | BLM | c.1594G= (p.Asp532=) c.*518G= (n.*518G=) c.469G= (p.Asp157=) c.280G= (p.Asp94=) | |
| 15 | g.90760967G>T | CA393843401 | BLM | c.1594G>T (p.Asp532Tyr) c.*518G>T (n.*518G>T) c.469G>T (p.Asp157Tyr) c.280G>T (p.Asp94Tyr) | ClinVar |
| 15 | g.90760967_90760970delinsGATC | CA2195277102 | BLM | c.1594_1597delinsGATC (p.Asp532=) c.*518_*521delinsGATC (n.*518_*521delinsGATC) c.469_472delinsGATC (p.Asp157=) c.280_283delinsGATC (p.Asp94=) | |
| 15 | g.90760968A= | CA2195277105 | BLM | c.1595A= (p.Asp532=) c.*519A= (n.*519A=) c.470A= (p.Asp157=) c.281A= (p.Asp94=) | |
| 15 | g.90760968A>C | CA393843404 | BLM | c.1595A>C (p.Asp532Ala) c.*519A>C (n.*519A>C) c.470A>C (p.Asp157Ala) c.281A>C (p.Asp94Ala) | |
| 15 | g.90760968A>G | CA393843402 | BLM | c.1595A>G (p.Asp532Gly) c.*519A>G (n.*519A>G) c.470A>G (p.Asp157Gly) c.281A>G (p.Asp94Gly) | ClinVar dbSNP |
| 15 | g.90760968A>T | CA393843403 | BLM | c.1595A>T (p.Asp532Val) c.*519A>T (n.*519A>T) c.470A>T (p.Asp157Val) c.281A>T (p.Asp94Val) | |
| 15 | g.90760969_90760971del | CA916080559 | BLM | c.1596_1598del (p.Asp532_Gln533delinsGlu) c.*520_*522del (n.*520_*522del) c.471_473del (p.Asp157_Gln158delinsGlu) c.282_284del (p.Asp94_Gln95delinsGlu) | ClinVar dbSNP |
| 15 | g.90760970_90760975dup | CA2575835799 | BLM | c.1597_1602dup (p.Asn534_Lys535insGlnAsn) c.*521_*526dup (n.*521_*526dup) c.472_477dup (p.Asn159_Lys160insGlnAsn) c.283_288dup (p.Asn96_Lys97insGlnAsn) | |
| 15 | g.90760969T>A | CA393843405 | BLM | c.1596T>A (p.Asp532Glu) c.*520T>A (n.*520T>A) c.471T>A (p.Asp157Glu) c.282T>A (p.Asp94Glu) | |
| 15 | g.90760969T>C | CA492301459 | BLM | c.1596T>C (p.Asp532=) c.*520T>C (n.*520T>C) c.471T>C (p.Asp157=) c.282T>C (p.Asp94=) | |
| 15 | g.90760969T>G | CA393843406 | BLM | c.1596T>G (p.Asp532Glu) c.*520T>G (n.*520T>G) c.471T>G (p.Asp157Glu) c.282T>G (p.Asp94Glu) | |
| 15 | g.90760970C>A | CA393843407 | BLM | c.1597C>A (p.Gln533Lys) c.*521C>A (n.*521C>A) c.472C>A (p.Gln158Lys) c.283C>A (p.Gln95Lys) | |
| 15 | g.90760970C>G | CA393843408 | BLM | c.1597C>G (p.Gln533Glu) c.*521C>G (n.*521C>G) c.472C>G (p.Gln158Glu) c.283C>G (p.Gln95Glu) | |
| 15 | g.90760970C>T | CA393843409 | BLM | c.1597C>T (p.Gln533Ter) c.*521C>T (n.*521C>T) c.472C>T (p.Gln158Ter) c.283C>T (p.Gln95Ter) | |
| 15 | g.90760971A= | CA2195277107 | BLM | c.1598A= (p.Gln533=) c.*522A= (n.*522A=) c.473A= (p.Gln158=) c.284A= (p.Gln95=) | |
| 15 | g.90760971A>C | CA393843410 | BLM | c.1598A>C (p.Gln533Pro) c.*522A>C (n.*522A>C) c.473A>C (p.Gln158Pro) c.284A>C (p.Gln95Pro) | |
| 15 | g.90760971A>G | CA393843411 | BLM | c.1598A>G (p.Gln533Arg) c.*522A>G (n.*522A>G) c.473A>G (p.Gln158Arg) c.284A>G (p.Gln95Arg) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90760971A>T | CA393843412 | BLM | c.1598A>T (p.Gln533Leu) c.*522A>T (n.*522A>T) c.473A>T (p.Gln158Leu) c.284A>T (p.Gln95Leu) | |
| 15 | g.90760972G>A | CA492301468 | BLM | c.1599G>A (p.Gln533=) c.*523G>A (n.*523G>A) c.474G>A (p.Gln158=) c.285G>A (p.Gln95=) | ClinVar dbSNP |
| 15 | g.90760972G>C | CA393843413 | BLM | c.1599G>C (p.Gln533His) c.*523G>C (n.*523G>C) c.474G>C (p.Gln158His) c.285G>C (p.Gln95His) | |
| 15 | g.90760972G>T | CA393843414 | BLM | c.1599G>T (p.Gln533His) c.*523G>T (n.*523G>T) c.474G>T (p.Gln158His) c.285G>T (p.Gln95His) | gnomAD v4 |
| 15 | g.90760973A>C | CA393843415 | BLM | c.1600A>C (p.Asn534His) c.*524A>C (n.*524A>C) c.475A>C (p.Asn159His) c.286A>C (p.Asn96His) | dbSNP |
| 15 | g.90760973A>G | CA393843416 | BLM | c.1600A>G (p.Asn534Asp) c.*524A>G (n.*524A>G) c.475A>G (p.Asn159Asp) c.286A>G (p.Asn96Asp) | |
| 15 | g.90760973A>T | CA393843417 | BLM | c.1600A>T (p.Asn534Tyr) c.*524A>T (n.*524A>T) c.475A>T (p.Asn159Tyr) c.286A>T (p.Asn96Tyr) | |
| 15 | g.90760974A= | CA2195277110 | BLM | c.1601A= (p.Asn534=) c.*525A= (n.*525A=) c.476A= (p.Asn159=) c.287A= (p.Asn96=) | |
| 15 | g.90760974A>C | CA393843418 | BLM | c.1601A>C (p.Asn534Thr) c.*525A>C (n.*525A>C) c.476A>C (p.Asn159Thr) c.287A>C (p.Asn96Thr) | |
| 15 | g.90760974A>G | CA247014 | BLM | c.1601A>G (p.Asn534Ser) c.*525A>G (n.*525A>G) c.476A>G (p.Asn159Ser) c.287A>G (p.Asn96Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90760974A>T | CA393843419 | BLM | c.1601A>T (p.Asn534Ile) c.*525A>T (n.*525A>T) c.476A>T (p.Asn159Ile) c.287A>T (p.Asn96Ile) | |
| 15 | g.90760975T>A | CA393843420 | BLM | c.1602T>A (p.Asn534Lys) c.*526T>A (n.*526T>A) c.477T>A (p.Asn159Lys) c.288T>A (p.Asn96Lys) | |
| 15 | g.90760975T>C | CA492301480 | BLM | c.1602T>C (p.Asn534=) c.*526T>C (n.*526T>C) c.477T>C (p.Asn159=) c.288T>C (p.Asn96=) | |
| 15 | g.90760975T>G | CA393843421 | BLM | c.1602T>G (p.Asn534Lys) c.*526T>G (n.*526T>G) c.477T>G (p.Asn159Lys) c.288T>G (p.Asn96Lys) | |
| 15 | g.90760976A>C | CA393843422 | BLM | c.1603A>C (p.Lys535Gln) c.*527A>C (n.*527A>C) c.478A>C (p.Lys160Gln) c.289A>C (p.Lys97Gln) | COSMIC |
| 15 | g.90760976A>G | CA393843423 | BLM | c.1603A>G (p.Lys535Glu) c.*527A>G (n.*527A>G) c.478A>G (p.Lys160Glu) c.289A>G (p.Lys97Glu) | |
| 15 | g.90760976A>T | CA393843424 | BLM | c.1603A>T (p.Lys535Ter) c.*527A>T (n.*527A>T) c.478A>T (p.Lys160Ter) c.289A>T (p.Lys97Ter) | ClinVar |
| 15 | g.90760977A>C | CA393843425 | BLM | c.1604A>C (p.Lys535Thr) c.*528A>C (n.*528A>C) c.479A>C (p.Lys160Thr) c.290A>C (p.Lys97Thr) | |
| 15 | g.90760977A>G | CA393843426 | BLM | c.1604A>G (p.Lys535Arg) c.*528A>G (n.*528A>G) c.479A>G (p.Lys160Arg) c.290A>G (p.Lys97Arg) | |
| 15 | g.90760977A>T | CA393843427 | BLM | c.1604A>T (p.Lys535Ile) c.*528A>T (n.*528A>T) c.479A>T (p.Lys160Ile) c.290A>T (p.Lys97Ile) | |
| 15 | g.90760978A>C | CA393843428 | BLM | c.1605A>C (p.Lys535Asn) c.*529A>C (n.*529A>C) c.480A>C (p.Lys160Asn) c.291A>C (p.Lys97Asn) | |
| 15 | g.90760978A>G | CA492301485 | BLM | c.1605A>G (p.Lys535=) c.*529A>G (n.*529A>G) c.480A>G (p.Lys160=) c.291A>G (p.Lys97=) | |
| 15 | g.90760978A>T | CA393843429 | BLM | c.1605A>T (p.Lys535Asn) c.*529A>T (n.*529A>T) c.480A>T (p.Lys160Asn) c.291A>T (p.Lys97Asn) | |
| 15 | g.90760978_90760979insGGCCTTTCAAAAAGATTCTTC | CA2731529295 | BLM | c.1605_1606insGGCCTTTCAAAAAGATTCTTC (p.Lys535_His536insGlyLeuSerLysArgPhePhe) c.*529_*530insGGCCTTTCAAAAAGATTCTTC (n.*529_*530insGGCCTTTCAAAAAGATTCTTC) c.480_481insGGCCTTTCAAAAAGATTCTTC (p.Lys160_His161insGlyLeuSerLysArgPhePhe) c.291_292insGGCCTTTCAAAAAGATTCTTC (p.Lys97_His98insGlyLeuSerLysArgPhePhe) | dbSNP |
| 15 | g.90760979C>A | CA393843430 | BLM | c.1606C>A (p.His536Asn) c.*530C>A (n.*530C>A) c.481C>A (p.His161Asn) c.292C>A (p.His98Asn) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90760979C= | CA2195277112 | BLM | c.1606C= (p.His536=) c.*530C= (n.*530C=) c.481C= (p.His161=) c.292C= (p.His98=) | |
| 15 | g.90760979C>G | CA393843431 | BLM | c.1606C>G (p.His536Asp) c.*530C>G (n.*530C>G) c.481C>G (p.His161Asp) c.292C>G (p.His98Asp) | |
| 15 | g.90760979C>T | CA393843432 | BLM | c.1606C>T (p.His536Tyr) c.*530C>T (n.*530C>T) c.481C>T (p.His161Tyr) c.292C>T (p.His98Tyr) | gnomAD v4 |
| 15 | g.90760980A>C | CA393843433 | BLM | c.1607A>C (p.His536Pro) c.*531A>C (n.*531A>C) c.482A>C (p.His161Pro) c.293A>C (p.His98Pro) | |
| 15 | g.90760980A>G | CA393843435 | BLM | c.1607A>G (p.His536Arg) c.*531A>G (n.*531A>G) c.482A>G (p.His161Arg) c.293A>G (p.His98Arg) | |
| 15 | g.90760980A>T | CA393843434 | BLM | c.1607A>T (p.His536Leu) c.*531A>T (n.*531A>T) c.482A>T (p.His161Leu) c.293A>T (p.His98Leu) | |
| 15 | g.90760981T>A | CA393843436 | BLM | c.1608T>A (p.His536Gln) c.*532T>A (n.*532T>A) c.483T>A (p.His161Gln) c.294T>A (p.His98Gln) | |
| 15 | g.90760981T>C | CA492301492 | BLM | c.1608T>C (p.His536=) c.*532T>C (n.*532T>C) c.483T>C (p.His161=) c.294T>C (p.His98=) | |
| 15 | g.90760981T>G | CA393843437 | BLM | c.1608T>G (p.His536Gln) c.*532T>G (n.*532T>G) c.483T>G (p.His161Gln) c.294T>G (p.His98Gln) | |
| 15 | g.90760982A>C | CA393843438 | BLM | c.1609A>C (p.Thr537Pro) c.*533A>C (n.*533A>C) c.484A>C (p.Thr162Pro) c.295A>C (p.Thr99Pro) | |
| 15 | g.90760982A>G | CA393843439 | BLM | c.1609A>G (p.Thr537Ala) c.*533A>G (n.*533A>G) c.484A>G (p.Thr162Ala) c.295A>G (p.Thr99Ala) | |
| 15 | g.90760982A>T | CA393843440 | BLM | c.1609A>T (p.Thr537Ser) c.*533A>T (n.*533A>T) c.484A>T (p.Thr162Ser) c.295A>T (p.Thr99Ser) | |
| 15 | g.90760983C>A | CA393843441 | BLM | c.1610C>A (p.Thr537Asn) c.*534C>A (n.*534C>A) c.485C>A (p.Thr162Asn) c.296C>A (p.Thr99Asn) | ClinVar dbSNP |
| 15 | g.90760983C= | CA2195277113 | BLM | c.1610C= (p.Thr537=) c.*534C= (n.*534C=) c.485C= (p.Thr162=) c.296C= (p.Thr99=) | |
| 15 | g.90760983C>G | CA393843442 | BLM | c.1610C>G (p.Thr537Ser) c.*534C>G (n.*534C>G) c.485C>G (p.Thr162Ser) c.296C>G (p.Thr99Ser) | |
| 15 | g.90760983C>T | CA393843443 | BLM | c.1610C>T (p.Thr537Ile) c.*534C>T (n.*534C>T) c.485C>T (p.Thr162Ile) c.296C>T (p.Thr99Ile) | dbSNP gnomAD v4 |
| 15 | g.90760984T>A | CA492301502 | BLM | c.1611T>A (p.Thr537=) c.*535T>A (n.*535T>A) c.486T>A (p.Thr162=) c.297T>A (p.Thr99=) | |
| 15 | g.90760984T>C | CA492301506 | BLM | c.1611T>C (p.Thr537=) c.*535T>C (n.*535T>C) c.486T>C (p.Thr162=) c.297T>C (p.Thr99=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90760984T>G | CA492301500 | BLM | c.1611T>G (p.Thr537=) c.*535T>G (n.*535T>G) c.486T>G (p.Thr162=) c.297T>G (p.Thr99=) | |
| 15 | g.90760984T= | CA2195277114 | BLM | c.1611T= (p.Thr537=) c.*535T= (n.*535T=) c.486T= (p.Thr162=) c.297T= (p.Thr99=) | |
| 15 | g.90760985G>A | CA393843444 | BLM | c.1612G>A (p.Ala538Thr) c.*536G>A (n.*536G>A) c.487G>A (p.Ala163Thr) c.298G>A (p.Ala100Thr) | ClinVar dbSNP |
| 15 | g.90760985G>C | CA393843445 | BLM | c.1612G>C (p.Ala538Pro) c.*536G>C (n.*536G>C) c.487G>C (p.Ala163Pro) c.298G>C (p.Ala100Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90760985G= | CA2195277116 | BLM | c.1612G= (p.Ala538=) c.*536G= (n.*536G=) c.487G= (p.Ala163=) c.298G= (p.Ala100=) | |
| 15 | g.90760985G>T | CA393843446 | BLM | c.1612G>T (p.Ala538Ser) c.*536G>T (n.*536G>T) c.487G>T (p.Ala163Ser) c.298G>T (p.Ala100Ser) | |
| 15 | g.90760986C>A | CA274738311 | BLM | c.1613C>A (p.Ala538Asp) c.*537C>A (n.*537C>A) c.488C>A (p.Ala163Asp) c.299C>A (p.Ala100Asp) | ClinVar dbSNP |
| 15 | g.90760986C= | CA2195277118 | BLM | c.1613C= (p.Ala538=) c.*537C= (n.*537C=) c.488C= (p.Ala163=) c.299C= (p.Ala100=) | |
| 15 | g.90760986C>G | CA393843447 | BLM | c.1613C>G (p.Ala538Gly) c.*537C>G (n.*537C>G) c.488C>G (p.Ala163Gly) c.299C>G (p.Ala100Gly) | |
| 15 | g.90760986C>T | CA7738564 | BLM | c.1613C>T (p.Ala538Val) c.*537C>T (n.*537C>T) c.488C>T (p.Ala163Val) c.299C>T (p.Ala100Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90760987T>A | CA492301511 | BLM | c.1614T>A (p.Ala538=) c.*538T>A (n.*538T>A) c.489T>A (p.Ala163=) c.300T>A (p.Ala100=) | |
| 15 | g.90760987T>C | CA492301512 | BLM | c.1614T>C (p.Ala538=) c.*538T>C (n.*538T>C) c.489T>C (p.Ala163=) c.300T>C (p.Ala100=) | |
| 15 | g.90760987T>G | CA492301513 | BLM | c.1614T>G (p.Ala538=) c.*538T>G (n.*538T>G) c.489T>G (p.Ala163=) c.300T>G (p.Ala100=) | |
| 15 | g.90760988T>A | CA393843448 | BLM | c.1615T>A (p.Ser539Thr) c.*539T>A (n.*539T>A) c.490T>A (p.Ser164Thr) c.301T>A (p.Ser101Thr) | |
| 15 | g.90760988T>C | CA393843450 | BLM | c.1615T>C (p.Ser539Pro) c.*539T>C (n.*539T>C) c.490T>C (p.Ser164Pro) c.301T>C (p.Ser101Pro) | |
| 15 | g.90760988T>G | CA393843449 | BLM | c.1615T>G (p.Ser539Ala) c.*539T>G (n.*539T>G) c.490T>G (p.Ser164Ala) c.301T>G (p.Ser101Ala) | |
| 15 | g.90760989C>A | CA393843451 | BLM | c.1616C>A (p.Ser539Ter) c.*540C>A (n.*540C>A) c.491C>A (p.Ser164Ter) c.302C>A (p.Ser101Ter) | |
| 15 | g.90760989C>G | CA393843453 | BLM | c.1616C>G (p.Ser539Ter) c.*540C>G (n.*540C>G) c.491C>G (p.Ser164Ter) c.302C>G (p.Ser101Ter) | |
| 15 | g.90760989C>T | CA393843452 | BLM | c.1616C>T (p.Ser539Leu) c.*540C>T (n.*540C>T) c.491C>T (p.Ser164Leu) c.302C>T (p.Ser101Leu) | |
| 15 | g.90760990A>C | CA492301518 | BLM | c.1617A>C (p.Ser539=) c.*541A>C (n.*541A>C) c.492A>C (p.Ser164=) c.303A>C (p.Ser101=) | gnomAD v4 |
| 15 | g.90760990A>G | CA492301519 | BLM | c.1617A>G (p.Ser539=) c.*541A>G (n.*541A>G) c.492A>G (p.Ser164=) c.303A>G (p.Ser101=) | |
| 15 | g.90760990A>T | CA492301520 | BLM | c.1617A>T (p.Ser539=) c.*541A>T (n.*541A>T) c.492A>T (p.Ser164=) c.303A>T (p.Ser101=) | |
| 15 | g.90760991A= | CA2195277120 | BLM | c.1618A= (p.Ile540=) c.*542A= (n.*542A=) c.493A= (p.Ile165=) c.304A= (p.Ile102=) | |
| 15 | g.90760991A>C | CA393843454 | BLM | c.1618A>C (p.Ile540Leu) c.*542A>C (n.*542A>C) c.493A>C (p.Ile165Leu) c.304A>C (p.Ile102Leu) | |
| 15 | g.90760991A>G | CA16614782 | BLM | c.1618A>G (p.Ile540Val) c.*542A>G (n.*542A>G) c.493A>G (p.Ile165Val) c.304A>G (p.Ile102Val) | ClinVar dbSNP |
| 15 | g.90760991A>T | CA393843455 | BLM | c.1618A>T (p.Ile540Leu) c.*542A>T (n.*542A>T) c.493A>T (p.Ile165Leu) c.304A>T (p.Ile102Leu) | |
| 15 | g.90760992T>A | CA393843456 | BLM | c.1619T>A (p.Ile540Lys) c.*543T>A (n.*543T>A) c.494T>A (p.Ile165Lys) c.305T>A (p.Ile102Lys) | ClinVar dbSNP |
| 15 | g.90760992T>C | CA393843457 | BLM | c.1619T>C (p.Ile540Thr) c.*543T>C (n.*543T>C) c.494T>C (p.Ile165Thr) c.305T>C (p.Ile102Thr) | |
| 15 | g.90760992T>G | CA393843458 | BLM | c.1619T>G (p.Ile540Arg) c.*543T>G (n.*543T>G) c.494T>G (p.Ile165Arg) c.305T>G (p.Ile102Arg) | |
| 15 | g.90760992T= | CA2195277123 | BLM | c.1619T= (p.Ile540=) c.*543T= (n.*543T=) c.494T= (p.Ile165=) c.305T= (p.Ile102=) | |
| 15 | g.90760993A= | CA2195277126 | BLM | c.1620A= (p.Ile540=) c.*544A= (n.*544A=) c.495A= (p.Ile165=) c.306A= (p.Ile102=) | |
| 15 | g.90760993A>C | CA492301525 | BLM | c.1620A>C (p.Ile540=) c.*544A>C (n.*544A>C) c.495A>C (p.Ile165=) c.306A>C (p.Ile102=) | |
| 15 | g.90760993A>G | CA393843459 | BLM | c.1620A>G (p.Ile540Met) c.*544A>G (n.*544A>G) c.495A>G (p.Ile165Met) c.306A>G (p.Ile102Met) | ClinVar dbSNP |
| 15 | g.90760993A>T | CA492301529 | BLM | c.1620A>T (p.Ile540=) c.*544A>T (n.*544A>T) c.495A>T (p.Ile165=) c.306A>T (p.Ile102=) | |
| 15 | g.90760995del | CA2630381041 | BLM | c.1622del (p.Asn541MetfsTer3) c.*546del (n.*546del) c.497del (p.Asn166MetfsTer3) c.308del (p.Asn103MetfsTer3) | ClinVar gnomAD v4 |
| 15 | g.90760994A>C | CA393843460 | BLM | c.1621A>C (p.Asn541His) c.*545A>C (n.*545A>C) c.496A>C (p.Asn166His) c.307A>C (p.Asn103His) | |
| 15 | g.90760994A>G | CA393843461 | BLM | c.1621A>G (p.Asn541Asp) c.*545A>G (n.*545A>G) c.496A>G (p.Asn166Asp) c.307A>G (p.Asn103Asp) | |
| 15 | g.90760994A>T | CA393843462 | BLM | c.1621A>T (p.Asn541Tyr) c.*545A>T (n.*545A>T) c.496A>T (p.Asn166Tyr) c.307A>T (p.Asn103Tyr) | |
| 15 | g.90760995A= | CA2195277127 | BLM | c.1622A= (p.Asn541=) c.*546A= (n.*546A=) c.497A= (p.Asn166=) c.308A= (p.Asn103=) | |
| 15 | g.90760995A>C | CA393843463 | BLM | c.1622A>C (p.Asn541Thr) c.*546A>C (n.*546A>C) c.497A>C (p.Asn166Thr) c.308A>C (p.Asn103Thr) | |
| 15 | g.90760995A>G | CA393843464 | BLM | c.1622A>G (p.Asn541Ser) c.*546A>G (n.*546A>G) c.497A>G (p.Asn166Ser) c.308A>G (p.Asn103Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.90760995A>T | CA393843465 | BLM | c.1622A>T (p.Asn541Ile) c.*546A>T (n.*546A>T) c.497A>T (p.Asn166Ile) c.308A>T (p.Asn103Ile) | |
| 15 | g.90760996T>A | CA393843466 | BLM | c.1623T>A (p.Asn541Lys) c.*547T>A (n.*547T>A) c.498T>A (p.Asn166Lys) c.309T>A (p.Asn103Lys) | |
| 15 | g.90760996T>C | CA492301541 | BLM | c.1623T>C (p.Asn541=) c.*547T>C (n.*547T>C) c.498T>C (p.Asn166=) c.309T>C (p.Asn103=) | |
| 15 | g.90760996T>G | CA393843467 | BLM | c.1623T>G (p.Asn541Lys) c.*547T>G (n.*547T>G) c.498T>G (p.Asn166Lys) c.309T>G (p.Asn103Lys) | |
| 15 | g.90760996_90760997delinsTG | CA2195277129 | BLM | c.1623_1624delinsTG (p.Asn541=) c.*547_*548delinsTG (n.*547_*548delinsTG) c.498_499delinsTG (p.Asn166=) c.309_310delinsTG (p.Asn103=) | |
| 15 | g.90760997del | CA7738565 | BLM | c.1624del (p.Asp542ThrfsTer2) c.*548del (n.*548del) c.499del (p.Asp167ThrfsTer2) c.310del (p.Asp104ThrfsTer2) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.90760997G>A | CA393843470 | BLM | c.1624G>A (p.Asp542Asn) c.*548G>A (n.*548G>A) c.499G>A (p.Asp167Asn) c.310G>A (p.Asp104Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.90760997G>C | CA393843468 | BLM | c.1624G>C (p.Asp542His) c.*548G>C (n.*548G>C) c.499G>C (p.Asp167His) c.310G>C (p.Asp104His) | |
| 15 | g.90760997G= | CA2195277132 | BLM | c.1624G= (p.Asp542=) c.*548G= (n.*548G=) c.499G= (p.Asp167=) c.310G= (p.Asp104=) | |
| 15 | g.90760997G>T | CA393843469 | BLM | c.1624G>T (p.Asp542Tyr) c.*548G>T (n.*548G>T) c.499G>T (p.Asp167Tyr) c.310G>T (p.Asp104Tyr) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90760998A= | CA2195277133 | BLM | c.1625A= (p.Asp542=) c.*549A= (n.*549A=) c.500A= (p.Asp167=) c.311A= (p.Asp104=) | |
| 15 | g.90760998A>C | CA393843471 | BLM | c.1625A>C (p.Asp542Ala) c.*549A>C (n.*549A>C) c.500A>C (p.Asp167Ala) c.311A>C (p.Asp104Ala) | |
| 15 | g.90760998A>G | CA393843472 | BLM | c.1625A>G (p.Asp542Gly) c.*549A>G (n.*549A>G) c.500A>G (p.Asp167Gly) c.311A>G (p.Asp104Gly) | |
| 15 | g.90760998A>T | CA274738317 | BLM | c.1625A>T (p.Asp542Val) c.*549A>T (n.*549A>T) c.500A>T (p.Asp167Val) c.311A>T (p.Asp104Val) | dbSNP |
| 15 | g.90760999C>A | CA393843473 | BLM | c.1626C>A (p.Asp542Glu) c.*550C>A (n.*550C>A) c.501C>A (p.Asp167Glu) c.312C>A (p.Asp104Glu) | ClinVar dbSNP |
| 15 | g.90760999C= | CA2195277135 | BLM | c.1626C= (p.Asp542=) c.*550C= (n.*550C=) c.501C= (p.Asp167=) c.312C= (p.Asp104=) | |
| 15 | g.90760999C>G | CA393843474 | BLM | c.1626C>G (p.Asp542Glu) c.*550C>G (n.*550C>G) c.501C>G (p.Asp167Glu) c.312C>G (p.Asp104Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.90760999C>T | CA492301552 | BLM | c.1626C>T (p.Asp542=) c.*550C>T (n.*550C>T) c.501C>T (p.Asp167=) c.312C>T (p.Asp104=) | ClinVar dbSNP |
| 15 | g.90761000T>A | CA393843475 | BLM | c.1627T>A (p.Leu543Ile) c.*551T>A (n.*551T>A) c.502T>A (p.Leu168Ile) c.313T>A (p.Leu105Ile) | |
| 15 | g.90761000T>C | CA492301554 | BLM | c.1627T>C (p.Leu543=) c.*551T>C (n.*551T>C) c.502T>C (p.Leu168=) c.313T>C (p.Leu105=) | |
| 15 | g.90761000T>G | CA393843476 | BLM | c.1627T>G (p.Leu543Val) c.*551T>G (n.*551T>G) c.502T>G (p.Leu168Val) c.313T>G (p.Leu105Val) | |
| 15 | g.90761001T>A | CA344498 | BLM | c.1628T>A (p.Leu543Ter) c.*552T>A (n.*552T>A) c.503T>A (p.Leu168Ter) c.314T>A (p.Leu105Ter) | dbSNP |
| 15 | g.90761001T>C | CA393843477 | BLM | c.1628T>C (p.Leu543Ser) c.*552T>C (n.*552T>C) c.503T>C (p.Leu168Ser) c.314T>C (p.Leu105Ser) | |
| 15 | g.90761001T>G | CA393843478 | BLM | c.1628T>G (p.Leu543Ter) c.*552T>G (n.*552T>G) c.503T>G (p.Leu168Ter) c.314T>G (p.Leu105Ter) | ClinVar dbSNP |
| 15 | g.90761001T= | CA2195277136 | BLM | c.1628T= (p.Leu543=) c.*552T= (n.*552T=) c.503T= (p.Leu168=) c.314T= (p.Leu105=) | |
| 15 | g.90761001_90761005delinsTAGAA | CA2195277137 | BLM | c.1628_1632delinsTAGAA (p.Leu543=) c.*552_*556delinsTAGAA (n.*552_*556delinsTAGAA) c.503_507delinsTAGAA (p.Leu168=) c.314_318delinsTAGAA (p.Leu105=) | |
| 15 | g.90761001_90761007del | CA912994833 | BLM | c.1628_1634del (p.Leu543Ter) c.*552_*558del (n.*552_*558del) c.503_509del (p.Leu168Ter) c.314_320del (p.Leu105Ter) | |
| 15 | g.90761001_90761007delinsTAGAAAG | CA2195277138 | BLM | c.1628_1634delinsTAGAAAG (p.Leu543=) c.*552_*558delinsTAGAAAG (n.*552_*558delinsTAGAAAG) c.503_509delinsTAGAAAG (p.Leu168=) c.314_320delinsTAGAAAG (p.Leu105=) | |
| 15 | g.90761002A>C | CA393843479 | BLM | c.1629A>C (p.Leu543Phe) c.*553A>C (n.*553A>C) c.504A>C (p.Leu168Phe) c.315A>C (p.Leu105Phe) | |
| 15 | g.90761002A>G | CA492301563 | BLM | c.1629A>G (p.Leu543=) c.*553A>G (n.*553A>G) c.504A>G (p.Leu168=) c.315A>G (p.Leu105=) | |
| 15 | g.90761002A>T | CA393843480 | BLM | c.1629A>T (p.Leu543Phe) c.*553A>T (n.*553A>T) c.504A>T (p.Leu168Phe) c.315A>T (p.Leu105Phe) | |
| 15 | g.90761005_90761008del | CA717017621 | BLM | c.1632_1635del (p.Arg545LysfsTer13) c.*556_*559del (n.*556_*559del) c.507_510del (p.Arg170LysfsTer13) c.318_321del (p.Arg107LysfsTer13) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90761007_90761012del | CA658824615 | BLM | c.1634_1639del (p.Arg545_Glu546del) c.*558_*563del (n.*558_*563del) c.509_514del (p.Arg170_Glu171del) c.320_325del (p.Arg107_Glu108del) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90761003G>A | CA7738566 | BLM | c.1630G>A (p.Glu544Lys) c.*554G>A (n.*554G>A) c.505G>A (p.Glu169Lys) c.316G>A (p.Glu106Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90761003G>C | CA393843481 | BLM | c.1630G>C (p.Glu544Gln) c.*554G>C (n.*554G>C) c.505G>C (p.Glu169Gln) c.316G>C (p.Glu106Gln) | |
| 15 | g.90761003G= | CA2195277142 | BLM | c.1630G= (p.Glu544=) c.*554G= (n.*554G=) c.505G= (p.Glu169=) c.316G= (p.Glu106=) | |
| 15 | g.90761003G>T | CA393843482 | BLM | c.1630G>T (p.Glu544Ter) c.*554G>T (n.*554G>T) c.505G>T (p.Glu169Ter) c.316G>T (p.Glu106Ter) | |
| 15 | g.90761004A= | CA2195277144 | BLM | c.1631A= (p.Glu544=) c.*555A= (n.*555A=) c.506A= (p.Glu169=) c.317A= (p.Glu106=) | |
| 15 | g.90761004A>C | CA393843483 | BLM | c.1631A>C (p.Glu544Ala) c.*555A>C (n.*555A>C) c.506A>C (p.Glu169Ala) c.317A>C (p.Glu106Ala) | |
| 15 | g.90761004A>G | CA393843484 | BLM | c.1631A>G (p.Glu544Gly) c.*555A>G (n.*555A>G) c.506A>G (p.Glu169Gly) c.317A>G (p.Glu106Gly) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90761004A>T | CA393843485 | BLM | c.1631A>T (p.Glu544Val) c.*555A>T (n.*555A>T) c.506A>T (p.Glu169Val) c.317A>T (p.Glu106Val) | |
| 15 | g.90761006del | CA2580090387 | BLM | c.1633del (p.Arg545GlufsTer14) c.*557del (n.*557del) c.508del (p.Arg170GlufsTer14) c.319del (p.Arg107GlufsTer14) | ClinVar |
| 15 | g.90761005A>C | CA393843486 | BLM | c.1632A>C (p.Glu544Asp) c.*556A>C (n.*556A>C) c.507A>C (p.Glu169Asp) c.318A>C (p.Glu106Asp) | |
| 15 | g.90761005A>G | CA492301573 | BLM | c.1632A>G (p.Glu544=) c.*556A>G (n.*556A>G) c.507A>G (p.Glu169=) c.318A>G (p.Glu106=) | |
| 15 | g.90761005A>T | CA393843487 | BLM | c.1632A>T (p.Glu544Asp) c.*556A>T (n.*556A>T) c.507A>T (p.Glu169Asp) c.318A>T (p.Glu106Asp) | |
| 15 | g.90761006A= | CA2195277147 | BLM | c.1633A= (p.Arg545=) c.*557A= (n.*557A=) c.508A= (p.Arg170=) c.319A= (p.Arg107=) | |
| 15 | g.90761006A>C | CA492301574 | BLM | c.1633A>C (p.Arg545=) c.*557A>C (n.*557A>C) c.508A>C (p.Arg170=) c.319A>C (p.Arg107=) | |
| 15 | g.90761006A>G | CA393843488 | BLM | c.1633A>G (p.Arg545Gly) c.*557A>G (n.*557A>G) c.508A>G (p.Arg170Gly) c.319A>G (p.Arg107Gly) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90761006A>T | CA393843489 | BLM | c.1633A>T (p.Arg545Ter) c.*557A>T (n.*557A>T) c.508A>T (p.Arg170Ter) c.319A>T (p.Arg107Ter) | |
| 15 | g.90761007G>A | CA393843490 | BLM | c.1634G>A (p.Arg545Lys) c.*558G>A (n.*558G>A) c.509G>A (p.Arg170Lys) c.320G>A (p.Arg107Lys) | ClinVar gnomAD v4 |
| 15 | g.90761007G>C | CA393843491 | BLM | c.1634G>C (p.Arg545Thr) c.*558G>C (n.*558G>C) c.509G>C (p.Arg170Thr) c.320G>C (p.Arg107Thr) | |
| 15 | g.90761007G>T | CA393843492 | BLM | c.1634G>T (p.Arg545Ile) c.*558G>T (n.*558G>T) c.509G>T (p.Arg170Ile) c.320G>T (p.Arg107Ile) | |
| 15 | g.90761008A= | CA2195277150 | BLM | c.1635A= (p.Arg545=) c.*559A= (n.*559A=) c.510A= (p.Arg170=) c.321A= (p.Arg107=) | |
| 15 | g.90761008A>C | CA393843493 | BLM | c.1635A>C (p.Arg545Ser) c.*559A>C (n.*559A>C) c.510A>C (p.Arg170Ser) c.321A>C (p.Arg107Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.90761008A>G | CA492301578 | BLM | c.1635A>G (p.Arg545=) c.*559A>G (n.*559A>G) c.510A>G (p.Arg170=) c.321A>G (p.Arg107=) | |
| 15 | g.90761008A>T | CA393843494 | BLM | c.1635A>T (p.Arg545Ser) c.*559A>T (n.*559A>T) c.510A>T (p.Arg170Ser) c.321A>T (p.Arg107Ser) | |
| 15 | g.90761009G>A | CA393843495 | BLM | c.1636G>A (p.Glu546Lys) c.*560G>A (n.*560G>A) c.511G>A (p.Glu171Lys) c.322G>A (p.Glu108Lys) | |
| 15 | g.90761009G>C | CA393843496 | BLM | c.1636G>C (p.Glu546Gln) c.*560G>C (n.*560G>C) c.511G>C (p.Glu171Gln) c.322G>C (p.Glu108Gln) | |
| 15 | g.90761009G>T | CA393843497 | BLM | c.1636G>T (p.Glu546Ter) c.*560G>T (n.*560G>T) c.511G>T (p.Glu171Ter) c.322G>T (p.Glu108Ter) | |
| 15 | g.90761010A>C | CA393843498 | BLM | c.1637A>C (p.Glu546Ala) c.*561A>C (n.*561A>C) c.512A>C (p.Glu171Ala) c.323A>C (p.Glu108Ala) | |
| 15 | g.90761010A>G | CA393843499 | BLM | c.1637A>G (p.Glu546Gly) c.*561A>G (n.*561A>G) c.512A>G (p.Glu171Gly) c.323A>G (p.Glu108Gly) | |
| 15 | g.90761010A>T | CA393843500 | BLM | c.1637A>T (p.Glu546Val) c.*561A>T (n.*561A>T) c.512A>T (p.Glu171Val) c.323A>T (p.Glu108Val) | |
| 15 | g.90761011A>C | CA393843501 | BLM | c.1638A>C (p.Glu546Asp) c.*562A>C (n.*562A>C) c.513A>C (p.Glu171Asp) c.324A>C (p.Glu108Asp) | |
| 15 | g.90761011A>G | CA492301584 | BLM | c.1638A>G (p.Glu546=) c.*562A>G (n.*562A>G) c.513A>G (p.Glu171=) c.324A>G (p.Glu108=) | gnomAD v4 |
| 15 | g.90761011A>T | CA393843502 | BLM | c.1638A>T (p.Glu546Asp) c.*562A>T (n.*562A>T) c.513A>T (p.Glu171Asp) c.324A>T (p.Glu108Asp) | |
| 15 | g.90761012A= | CA2195277151 | BLM | c.1639A= (p.Thr547=) c.*563A= (n.*563A=) c.514A= (p.Thr172=) c.325A= (p.Thr109=) | |
| 15 | g.90761012A>C | CA393843503 | BLM | c.1639A>C (p.Thr547Pro) c.*563A>C (n.*563A>C) c.514A>C (p.Thr172Pro) c.325A>C (p.Thr109Pro) | |
| 15 | g.90761012A>G | CA393843504 | BLM | c.1639A>G (p.Thr547Ala) c.*563A>G (n.*563A>G) c.514A>G (p.Thr172Ala) c.325A>G (p.Thr109Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.90761012A>T | CA393843505 | BLM | c.1639A>T (p.Thr547Ser) c.*563A>T (n.*563A>T) c.514A>T (p.Thr172Ser) c.325A>T (p.Thr109Ser) | |
| 15 | g.90761013C>A | CA393843507 | BLM | c.1640C>A (p.Thr547Asn) c.*564C>A (n.*564C>A) c.515C>A (p.Thr172Asn) c.326C>A (p.Thr109Asn) | |
| 15 | g.90761013C= | CA2195277153 | BLM | c.1640C= (p.Thr547=) c.*564C= (n.*564C=) c.515C= (p.Thr172=) c.326C= (p.Thr109=) | |
| 15 | g.90761013C>G | CA393843506 | BLM | c.1640C>G (p.Thr547Ser) c.*564C>G (n.*564C>G) c.515C>G (p.Thr172Ser) c.326C>G (p.Thr109Ser) | |
| 15 | g.90761013C>T | CA7738567 | BLM | c.1640C>T (p.Thr547Ile) c.*564C>T (n.*564C>T) c.515C>T (p.Thr172Ile) c.326C>T (p.Thr109Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.90761014C>A | CA492301591 | BLM | c.1641C>A (p.Thr547=) c.*565C>A (n.*565C>A) c.516C>A (p.Thr172=) c.327C>A (p.Thr109=) | ClinVar dbSNP |
| 15 | g.90761014C>G | CA492301592 | BLM | c.1641C>G (p.Thr547=) c.*565C>G (n.*565C>G) c.516C>G (p.Thr172=) c.327C>G (p.Thr109=) | ClinVar gnomAD v4 |
| 15 | g.90761014C>T | CA492301590 | BLM | c.1641C>T (p.Thr547=) c.*565C>T (n.*565C>T) c.516C>T (p.Thr172=) c.327C>T (p.Thr109=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90761015C>A | CA393843508 | BLM | c.1642C>A (p.Gln548Lys) c.*566C>A (n.*566C>A) c.517C>A (p.Gln173Lys) c.328C>A (p.Gln110Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.90761015C= | CA2195277155 | BLM | c.1642C= (p.Gln548=) c.*566C= (n.*566C=) c.517C= (p.Gln173=) c.328C= (p.Gln110=) | |
| 15 | g.90761015C>G | CA393843509 | BLM | c.1642C>G (p.Gln548Glu) c.*566C>G (n.*566C>G) c.517C>G (p.Gln173Glu) c.328C>G (p.Gln110Glu) | |
| 15 | g.90761015C>T | CA270826 | BLM | c.1642C>T (p.Gln548Ter) c.*566C>T (n.*566C>T) c.517C>T (p.Gln173Ter) c.328C>T (p.Gln110Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90761015_90761016insGGCCGGGCGCGGTGGCT | CA2630381047 | BLM | c.1642_1643insGGCCGGGCGCGGTGGCT (p.Gln548ArgfsTer17) c.*566_*567insGGCCGGGCGCGGTGGCT (n.*566_*567insGGCCGGGCGCGGTGGCT) c.517_518insGGCCGGGCGCGGTGGCT (p.Gln173ArgfsTer17) c.328_329insGGCCGGGCGCGGTGGCT (p.Gln110ArgfsTer17) | gnomAD v4 |
| 15 | g.90761015_90761016insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG | CA619860742 | BLM | c.1642_1643insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG (p.Gln548ArgfsTer19) c.*566_*567insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG (n.*566_*567insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG) c.517_518insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG (p.Gln173ArgfsTer19) c.328_329insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG (p.Gln110ArgfsTer19) | gnomAD v2 |
| 15 | g.90761016A>C | CA393843510 | BLM | c.1643A>C (p.Gln548Pro) c.*567A>C (n.*567A>C) c.518A>C (p.Gln173Pro) c.329A>C (p.Gln110Pro) | gnomAD v4 |
| 15 | g.90761016A>G | CA393843511 | BLM | c.1643A>G (p.Gln548Arg) c.*567A>G (n.*567A>G) c.518A>G (p.Gln173Arg) c.329A>G (p.Gln110Arg) | |
| 15 | g.90761016A>T | CA393843512 | BLM | c.1643A>T (p.Gln548Leu) c.*567A>T (n.*567A>T) c.518A>T (p.Gln173Leu) c.329A>T (p.Gln110Leu) | |
| 15 | g.90761017A>C | CA393843513 | BLM | c.1644A>C (p.Gln548His) c.*568A>C (n.*568A>C) c.519A>C (p.Gln173His) c.330A>C (p.Gln110His) | |
| 15 | g.90761017A>G | CA492301598 | BLM | c.1644A>G (p.Gln548=) c.*568A>G (n.*568A>G) c.519A>G (p.Gln173=) c.330A>G (p.Gln110=) | ClinVar gnomAD v4 |
| 15 | g.90761017A>T | CA393843514 | BLM | c.1644A>T (p.Gln548His) c.*568A>T (n.*568A>T) c.519A>T (p.Gln173His) c.330A>T (p.Gln110His) | |
| 15 | g.90761017_90761018insACACACCCAACACA | CA2805211178 | BLM | c.1644_1645insACACACCCAACACA (p.Pro549ThrfsTer15) c.*568_*569insACACACCCAACACA (n.*568_*569insACACACCCAACACA) c.519_520insACACACCCAACACA (p.Pro174ThrfsTer15) c.330_331insACACACCCAACACA (p.Pro111ThrfsTer15) | |
| 15 | g.90761018C>A | CA393843515 | BLM | c.1645C>A (p.Pro549Thr) c.*569C>A (n.*569C>A) c.520C>A (p.Pro174Thr) c.331C>A (p.Pro111Thr) | ClinVar dbSNP |
| 15 | g.90761018C>G | CA393843516 | BLM | c.1645C>G (p.Pro549Ala) c.*569C>G (n.*569C>G) c.520C>G (p.Pro174Ala) c.331C>G (p.Pro111Ala) | |
| 15 | g.90761018C>T | CA393843517 | BLM | c.1645C>T (p.Pro549Ser) c.*569C>T (n.*569C>T) c.520C>T (p.Pro174Ser) c.331C>T (p.Pro111Ser) | dbSNP |
| 15 | g.90761019C>A | CA393843518 | BLM | c.1646C>A (p.Pro549His) c.*570C>A (n.*570C>A) c.521C>A (p.Pro174His) c.332C>A (p.Pro111His) | |
| 15 | g.90761019C= | CA2195277157 | BLM | c.1646C= (p.Pro549=) c.*570C= (n.*570C=) c.521C= (p.Pro174=) c.332C= (p.Pro111=) | |
| 15 | g.90761019C>G | CA393843519 | BLM | c.1646C>G (p.Pro549Arg) c.*570C>G (n.*570C>G) c.521C>G (p.Pro174Arg) c.332C>G (p.Pro111Arg) | |
| 15 | g.90761019C>T | CA393843520 | BLM | c.1646C>T (p.Pro549Leu) c.*570C>T (n.*570C>T) c.521C>T (p.Pro174Leu) c.332C>T (p.Pro111Leu) | dbSNP |
| 15 | g.90761020T>A | CA492301602 | BLM | c.1647T>A (p.Pro549=) c.*571T>A (n.*571T>A) c.522T>A (p.Pro174=) c.333T>A (p.Pro111=) | |
| 15 | g.90761020T>C | CA492301603 | BLM | c.1647T>C (p.Pro549=) c.*571T>C (n.*571T>C) c.522T>C (p.Pro174=) c.333T>C (p.Pro111=) | ClinVar |
| 15 | g.90761020T>G | CA492301604 | BLM | c.1647T>G (p.Pro549=) c.*571T>G (n.*571T>G) c.522T>G (p.Pro174=) c.333T>G (p.Pro111=) | gnomAD v4 |
| 15 | g.90761021T>A | CA393843523 | BLM | c.1648T>A (p.Ser550Thr) c.*572T>A (n.*572T>A) c.523T>A (p.Ser175Thr) c.334T>A (p.Ser112Thr) | |
| 15 | g.90761021T>C | CA393843522 | BLM | c.1648T>C (p.Ser550Pro) c.*572T>C (n.*572T>C) c.523T>C (p.Ser175Pro) c.334T>C (p.Ser112Pro) | ClinVar |
| 15 | g.90761021T>G | CA393843521 | BLM | c.1648T>G (p.Ser550Ala) c.*572T>G (n.*572T>G) c.523T>G (p.Ser175Ala) c.334T>G (p.Ser112Ala) | |
| 15 | g.90761022C>A | CA393843524 | BLM | c.1649C>A (p.Ser550Tyr) c.*573C>A (n.*573C>A) c.524C>A (p.Ser175Tyr) c.335C>A (p.Ser112Tyr) | |
| 15 | g.90761022C>G | CA393843525 | BLM | c.1649C>G (p.Ser550Cys) c.*573C>G (n.*573C>G) c.524C>G (p.Ser175Cys) c.335C>G (p.Ser112Cys) | |
| 15 | g.90761022C>T | CA393843526 | BLM | c.1649C>T (p.Ser550Phe) c.*573C>T (n.*573C>T) c.524C>T (p.Ser175Phe) c.335C>T (p.Ser112Phe) | dbSNP |
| 15 | g.90761023C>A | CA492301610 | BLM | c.1650C>A (p.Ser550=) c.*574C>A (n.*574C>A) c.525C>A (p.Ser175=) c.336C>A (p.Ser112=) | |
| 15 | g.90761023C>G | CA492301611 | BLM | c.1650C>G (p.Ser550=) c.*574C>G (n.*574C>G) c.525C>G (p.Ser175=) c.336C>G (p.Ser112=) | ClinVar |
| 15 | g.90761023C>T | CA492301612 | BLM | c.1650C>T (p.Ser550=) c.*574C>T (n.*574C>T) c.525C>T (p.Ser175=) c.336C>T (p.Ser112=) | |
| 15 | g.90761024T>A | CA393843527 | BLM | c.1651T>A (p.Tyr551Asn) c.*575T>A (n.*575T>A) c.526T>A (p.Tyr176Asn) c.337T>A (p.Tyr113Asn) | |
| 15 | g.90761024T>C | CA393843528 | BLM | c.1651T>C (p.Tyr551His) c.*575T>C (n.*575T>C) c.526T>C (p.Tyr176His) c.337T>C (p.Tyr113His) | |
| 15 | g.90761024T>G | CA393843529 | BLM | c.1651T>G (p.Tyr551Asp) c.*575T>G (n.*575T>G) c.526T>G (p.Tyr176Asp) c.337T>G (p.Tyr113Asp) | |
| 15 | g.90761025A= | CA2195277159 | BLM | c.1652A= (p.Tyr551=) c.*576A= (n.*576A=) c.527A= (p.Tyr176=) c.338A= (p.Tyr113=) | |
| 15 | g.90761025A>C | CA393843530 | BLM | c.1652A>C (p.Tyr551Ser) c.*576A>C (n.*576A>C) c.527A>C (p.Tyr176Ser) c.338A>C (p.Tyr113Ser) | |
| 15 | g.90761025A>G | CA7738568 | BLM | c.1652A>G (p.Tyr551Cys) c.*576A>G (n.*576A>G) c.527A>G (p.Tyr176Cys) c.338A>G (p.Tyr113Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90761025A>T | CA393843531 | BLM | c.1652A>T (p.Tyr551Phe) c.*576A>T (n.*576A>T) c.527A>T (p.Tyr176Phe) c.338A>T (p.Tyr113Phe) | |
| 15 | g.90761026T>A | CA393843532 | BLM | c.1653T>A (p.Tyr551Ter) c.*577T>A (n.*577T>A) c.528T>A (p.Tyr176Ter) c.339T>A (p.Tyr113Ter) | |
| 15 | g.90761026T>C | CA492301618 | BLM | c.1653T>C (p.Tyr551=) c.*577T>C (n.*577T>C) c.528T>C (p.Tyr176=) c.339T>C (p.Tyr113=) | ClinVar |
| 15 | g.90761026T>G | CA393843533 | BLM | c.1653T>G (p.Tyr551Ter) c.*577T>G (n.*577T>G) c.528T>G (p.Tyr176Ter) c.339T>G (p.Tyr113Ter) | |
| 15 | g.90761027G>A | CA393843536 | BLM | c.1654G>A (p.Asp552Asn) c.*578G>A (n.*578G>A) c.529G>A (p.Asp177Asn) c.340G>A (p.Asp114Asn) | dbSNP |
| 15 | g.90761027G>C | CA393843535 | BLM | c.1654G>C (p.Asp552His) c.*578G>C (n.*578G>C) c.529G>C (p.Asp177His) c.340G>C (p.Asp114His) | dbSNP |
| 15 | g.90761027G= | CA2195277161 | BLM | c.1654G= (p.Asp552=) c.*578G= (n.*578G=) c.529G= (p.Asp177=) c.340G= (p.Asp114=) | |
| 15 | g.90761027G>T | CA393843534 | BLM | c.1654G>T (p.Asp552Tyr) c.*578G>T (n.*578G>T) c.529G>T (p.Asp177Tyr) c.340G>T (p.Asp114Tyr) | |
| 15 | g.90761028A>C | CA393843537 | BLM | c.1655A>C (p.Asp552Ala) c.*579A>C (n.*579A>C) c.530A>C (p.Asp177Ala) c.341A>C (p.Asp114Ala) | |
| 15 | g.90761028A>G | CA393843538 | BLM | c.1655A>G (p.Asp552Gly) c.*579A>G (n.*579A>G) c.530A>G (p.Asp177Gly) c.341A>G (p.Asp114Gly) | |
| 15 | g.90761028A>T | CA393843539 | BLM | c.1655A>T (p.Asp552Val) c.*579A>T (n.*579A>T) c.530A>T (p.Asp177Val) c.341A>T (p.Asp114Val) | |
| 15 | g.90761029T>A | CA393843540 | BLM | c.1656T>A (p.Asp552Glu) c.*580T>A (n.*580T>A) c.531T>A (p.Asp177Glu) c.342T>A (p.Asp114Glu) | |
| 15 | g.90761029T>C | CA492301621 | BLM | c.1656T>C (p.Asp552=) c.*580T>C (n.*580T>C) c.531T>C (p.Asp177=) c.342T>C (p.Asp114=) | |
| 15 | g.90761029T>G | CA393843541 | BLM | c.1656T>G (p.Asp552Glu) c.*580T>G (n.*580T>G) c.531T>G (p.Asp177Glu) c.342T>G (p.Asp114Glu) | |
| 15 | g.90761030A= | CA2195277164 | BLM | c.1657A= (p.Ile553=) c.*581A= (n.*581A=) c.532A= (p.Ile178=) c.343A= (p.Ile115=) | |
| 15 | g.90761030A>C | CA393843542 | BLM | c.1657A>C (p.Ile553Leu) c.*581A>C (n.*581A>C) c.532A>C (p.Ile178Leu) c.343A>C (p.Ile115Leu) | |
| 15 | g.90761030A>G | CA274738344 | BLM | c.1657A>G (p.Ile553Val) c.*581A>G (n.*581A>G) c.532A>G (p.Ile178Val) c.343A>G (p.Ile115Val) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90761030A>T | CA393843543 | BLM | c.1657A>T (p.Ile553Phe) c.*581A>T (n.*581A>T) c.532A>T (p.Ile178Phe) c.343A>T (p.Ile115Phe) | |
| 15 | g.90761031T>A | CA393843544 | BLM | c.1658T>A (p.Ile553Asn) c.*582T>A (n.*582T>A) c.533T>A (p.Ile178Asn) c.344T>A (p.Ile115Asn) | |
| 15 | g.90761031T>C | CA393843545 | BLM | c.1658T>C (p.Ile553Thr) c.*582T>C (n.*582T>C) c.533T>C (p.Ile178Thr) c.344T>C (p.Ile115Thr) | |
| 15 | g.90761031T>G | CA393843546 | BLM | c.1658T>G (p.Ile553Ser) c.*582T>G (n.*582T>G) c.533T>G (p.Ile178Ser) c.344T>G (p.Ile115Ser) | gnomAD v4 |
| 15 | g.90761032T>A | CA492301623 | BLM | c.1659T>A (p.Ile553=) c.*583T>A (n.*583T>A) c.534T>A (p.Ile178=) c.345T>A (p.Ile115=) | |
| 15 | g.90761032T>C | CA492301625 | BLM | c.1659T>C (p.Ile553=) c.*583T>C (n.*583T>C) c.534T>C (p.Ile178=) c.345T>C (p.Ile115=) | |
| 15 | g.90761032T>G | CA393843547 | BLM | c.1659T>G (p.Ile553Met) c.*583T>G (n.*583T>G) c.534T>G (p.Ile178Met) c.345T>G (p.Ile115Met) | |
| 15 | g.90761033G>A | CA393843550 | BLM | c.1660G>A (p.Asp554Asn) c.*584G>A (n.*584G>A) c.535G>A (p.Asp179Asn) c.346G>A (p.Asp116Asn) | ClinVar dbSNP |
| 15 | g.90761033G>C | CA393843549 | BLM | c.1660G>C (p.Asp554His) c.*584G>C (n.*584G>C) c.535G>C (p.Asp179His) c.346G>C (p.Asp116His) | dbSNP |
| 15 | g.90761033G>T | CA393843548 | BLM | c.1660G>T (p.Asp554Tyr) c.*584G>T (n.*584G>T) c.535G>T (p.Asp179Tyr) c.346G>T (p.Asp116Tyr) | |
| 15 | g.90761034A= | CA2195277166 | BLM | c.1661A= (p.Asp554=) c.*585A= (n.*585A=) c.536A= (p.Asp179=) c.347A= (p.Asp116=) | |
| 15 | g.90761034A>C | CA393843551 | BLM | c.1661A>C (p.Asp554Ala) c.*585A>C (n.*585A>C) c.536A>C (p.Asp179Ala) c.347A>C (p.Asp116Ala) | |
| 15 | g.90761034A>G | CA393843552 | BLM | c.1661A>G (p.Asp554Gly) c.*585A>G (n.*585A>G) c.536A>G (p.Asp179Gly) c.347A>G (p.Asp116Gly) | |
| 15 | g.90761034A>T | CA393843553 | BLM | c.1661A>T (p.Asp554Val) c.*585A>T (n.*585A>T) c.536A>T (p.Asp179Val) c.347A>T (p.Asp116Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.90761035T>A | CA393843554 | BLM | c.1662T>A (p.Asp554Glu) c.*586T>A (n.*586T>A) c.537T>A (p.Asp179Glu) c.348T>A (p.Asp116Glu) | |
| 15 | g.90761035T>C | CA492301633 | BLM | c.1662T>C (p.Asp554=) c.*586T>C (n.*586T>C) c.537T>C (p.Asp179=) c.348T>C (p.Asp116=) | |
| 15 | g.90761035T>G | CA393843555 | BLM | c.1662T>G (p.Asp554Glu) c.*586T>G (n.*586T>G) c.537T>G (p.Asp179Glu) c.348T>G (p.Asp116Glu) | |
| 15 | g.90761036A>C | CA393843556 | BLM | c.1663A>C (p.Asn555His) c.*587A>C (n.*587A>C) c.538A>C (p.Asn180His) c.349A>C (p.Asn117His) | |
| 15 | g.90761036A>G | CA393843557 | BLM | c.1663A>G (p.Asn555Asp) c.*587A>G (n.*587A>G) c.538A>G (p.Asn180Asp) c.349A>G (p.Asn117Asp) | dbSNP |
| 15 | g.90761036A>T | CA393843558 | BLM | c.1663A>T (p.Asn555Tyr) c.*587A>T (n.*587A>T) c.538A>T (p.Asn180Tyr) c.349A>T (p.Asn117Tyr) | |
| 15 | g.90761037A>C | CA393843559 | BLM | c.1664A>C (p.Asn555Thr) c.*588A>C (n.*588A>C) c.539A>C (p.Asn180Thr) c.350A>C (p.Asn117Thr) | |
| 15 | g.90761037A>G | CA393843560 | BLM | c.1664A>G (p.Asn555Ser) c.*588A>G (n.*588A>G) c.539A>G (p.Asn180Ser) c.350A>G (p.Asn117Ser) | |
| 15 | g.90761037A>T | CA393843561 | BLM | c.1664A>T (p.Asn555Ile) c.*588A>T (n.*588A>T) c.539A>T (p.Asn180Ile) c.350A>T (p.Asn117Ile) | |
| 15 | g.90761038T>A | CA393843562 | BLM | c.1665T>A (p.Asn555Lys) c.*589T>A (n.*589T>A) c.540T>A (p.Asn180Lys) c.351T>A (p.Asn117Lys) | |
| 15 | g.90761038T>C | CA492301637 | BLM | c.1665T>C (p.Asn555=) c.*589T>C (n.*589T>C) c.540T>C (p.Asn180=) c.351T>C (p.Asn117=) | |
| 15 | g.90761038T>G | CA393843563 | BLM | c.1665T>G (p.Asn555Lys) c.*589T>G (n.*589T>G) c.540T>G (p.Asn180Lys) c.351T>G (p.Asn117Lys) | |
| 15 | g.90761039T>A | CA393843566 | BLM | c.1666T>A (p.Phe556Ile) c.*590T>A (n.*590T>A) c.541T>A (p.Phe181Ile) c.352T>A (p.Phe118Ile) | |
| 15 | g.90761039T>C | CA393843565 | BLM | c.1666T>C (p.Phe556Leu) c.*590T>C (n.*590T>C) c.541T>C (p.Phe181Leu) c.352T>C (p.Phe118Leu) | |
| 15 | g.90761039T>G | CA393843564 | BLM | c.1666T>G (p.Phe556Val) c.*590T>G (n.*590T>G) c.541T>G (p.Phe181Val) c.352T>G (p.Phe118Val) | |
| 15 | g.90761040T>A | CA393843569 | BLM | c.1667T>A (p.Phe556Tyr) c.*591T>A (n.*591T>A) c.542T>A (p.Phe181Tyr) c.353T>A (p.Phe118Tyr) | |
| 15 | g.90761040T>C | CA393843567 | BLM | c.1667T>C (p.Phe556Ser) c.*591T>C (n.*591T>C) c.542T>C (p.Phe181Ser) c.353T>C (p.Phe118Ser) | |
| 15 | g.90761040T>G | CA393843568 | BLM | c.1667T>G (p.Phe556Cys) c.*591T>G (n.*591T>G) c.542T>G (p.Phe181Cys) c.353T>G (p.Phe118Cys) | |
| 15 | g.90761041T>A | CA393843570 | BLM | c.1668T>A (p.Phe556Leu) c.*592T>A (n.*592T>A) c.543T>A (p.Phe181Leu) c.354T>A (p.Phe118Leu) | |
| 15 | g.90761041T>C | CA492301642 | BLM | c.1668T>C (p.Phe556=) c.*592T>C (n.*592T>C) c.543T>C (p.Phe181=) c.354T>C (p.Phe118=) | ClinVar |
| 15 | g.90761041T>G | CA393843571 | BLM | c.1668T>G (p.Phe556Leu) c.*592T>G (n.*592T>G) c.543T>G (p.Phe181Leu) c.354T>G (p.Phe118Leu) | |
| 15 | g.90761042G>A | CA393843572 | BLM | c.1669G>A (p.Asp557Asn) c.*593G>A (n.*593G>A) c.544G>A (p.Asp182Asn) c.355G>A (p.Asp119Asn) | |
| 15 | g.90761042G>C | CA393843573 | BLM | c.1669G>C (p.Asp557His) c.*593G>C (n.*593G>C) c.544G>C (p.Asp182His) c.355G>C (p.Asp119His) | |
| 15 | g.90761042G>T | CA393843574 | BLM | c.1669G>T (p.Asp557Tyr) c.*593G>T (n.*593G>T) c.544G>T (p.Asp182Tyr) c.355G>T (p.Asp119Tyr) | |
| 15 | g.90761043A>C | CA393843577 | BLM | c.1670A>C (p.Asp557Ala) c.*594A>C (n.*594A>C) c.545A>C (p.Asp182Ala) c.356A>C (p.Asp119Ala) | |
| 15 | g.90761043A>G | CA393843575 | BLM | c.1670A>G (p.Asp557Gly) c.*594A>G (n.*594A>G) c.545A>G (p.Asp182Gly) c.356A>G (p.Asp119Gly) | |
| 15 | g.90761043A>T | CA393843576 | BLM | c.1670A>T (p.Asp557Val) c.*594A>T (n.*594A>T) c.545A>T (p.Asp182Val) c.356A>T (p.Asp119Val) | |
| 15 | g.90761044C>A | CA393843578 | BLM | c.1671C>A (p.Asp557Glu) c.*595C>A (n.*595C>A) c.546C>A (p.Asp182Glu) c.357C>A (p.Asp119Glu) | |
| 15 | g.90761044C>G | CA393843579 | BLM | c.1671C>G (p.Asp557Glu) c.*595C>G (n.*595C>G) c.546C>G (p.Asp182Glu) c.357C>G (p.Asp119Glu) | dbSNP |
| 15 | g.90761044C>T | CA492301646 | BLM | c.1671C>T (p.Asp557=) c.*595C>T (n.*595C>T) c.546C>T (p.Asp182=) c.357C>T (p.Asp119=) | gnomAD v3 gnomAD v4 |
| 15 | g.90761045A>C | CA393843580 | BLM | c.1672A>C (p.Ile558Leu) c.*596A>C (n.*596A>C) c.547A>C (p.Ile183Leu) c.358A>C (p.Ile120Leu) | |
| 15 | g.90761045A>G | CA393843581 | BLM | c.1672A>G (p.Ile558Val) c.*596A>G (n.*596A>G) c.547A>G (p.Ile183Val) c.358A>G (p.Ile120Val) | ClinVar gnomAD v4 |
| 15 | g.90761045A>T | CA393843582 | BLM | c.1672A>T (p.Ile558Leu) c.*596A>T (n.*596A>T) c.547A>T (p.Ile183Leu) c.358A>T (p.Ile120Leu) | |
| 15 | g.90761046T>A | CA393843585 | BLM | c.1673T>A (p.Ile558Lys) c.*597T>A (n.*597T>A) c.548T>A (p.Ile183Lys) c.359T>A (p.Ile120Lys) | |
| 15 | g.90761046T>C | CA393843583 | BLM | c.1673T>C (p.Ile558Thr) c.*597T>C (n.*597T>C) c.548T>C (p.Ile183Thr) c.359T>C (p.Ile120Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.90761046T>G | CA393843584 | BLM | c.1673T>G (p.Ile558Arg) c.*597T>G (n.*597T>G) c.548T>G (p.Ile183Arg) c.359T>G (p.Ile120Arg) | |
| 15 | g.90761046T= | CA2195277167 | BLM | c.1673T= (p.Ile558=) c.*597T= (n.*597T=) c.548T= (p.Ile183=) c.359T= (p.Ile120=) | |
| 15 | g.90761047A= | CA2195277169 | BLM | c.1674A= (p.Ile558=) c.*598A= (n.*598A=) c.549A= (p.Ile183=) c.360A= (p.Ile120=) | |
| 15 | g.90761047A>C | CA492301650 | BLM | c.1674A>C (p.Ile558=) c.*598A>C (n.*598A>C) c.549A>C (p.Ile183=) c.360A>C (p.Ile120=) | ClinVar |
| 15 | g.90761047A>G | CA393843586 | BLM | c.1674A>G (p.Ile558Met) c.*598A>G (n.*598A>G) c.549A>G (p.Ile183Met) c.360A>G (p.Ile120Met) | |
| 15 | g.90761047A>T | CA7738569 | BLM | c.1674A>T (p.Ile558=) c.*598A>T (n.*598A>T) c.549A>T (p.Ile183=) c.360A>T (p.Ile120=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.90761048G>A | CA393843587 | BLM | c.1675G>A (p.Asp559Asn) c.*599G>A (n.*599G>A) c.550G>A (p.Asp184Asn) c.361G>A (p.Asp121Asn) | |
| 15 | g.90761048G>C | CA393843588 | BLM | c.1675G>C (p.Asp559His) c.*599G>C (n.*599G>C) c.550G>C (p.Asp184His) c.361G>C (p.Asp121His) | dbSNP |
| 15 | g.90761048G>T | CA393843589 | BLM | c.1675G>T (p.Asp559Tyr) c.*599G>T (n.*599G>T) c.550G>T (p.Asp184Tyr) c.361G>T (p.Asp121Tyr) | |
| 15 | g.90761048_90761049delinsTT | CA2573151478 | BLM | c.1675_1676delinsTT (p.Asp559Phe) c.*599_*600delinsTT (n.*599_*600delinsTT) c.550_551delinsTT (p.Asp184Phe) c.361_362delinsTT (p.Asp121Phe) | ClinVar dbSNP |
| 15 | g.90761053_90761064del | CA2739269733 | BLM | c.1680_1691del (p.Phe561_Asp564del) c.*604_*615del (n.*604_*615del) c.555_566del (p.Phe186_Asp189del) c.366_377del (p.Phe123_Asp126del) | ClinVar |
| 15 | g.90761049A= | CA2195277171 | BLM | c.1676A= (p.Asp559=) c.*600A= (n.*600A=) c.551A= (p.Asp184=) c.362A= (p.Asp121=) | |
| 15 | g.90761049A>C | CA393843590 | BLM | c.1676A>C (p.Asp559Ala) c.*600A>C (n.*600A>C) c.551A>C (p.Asp184Ala) c.362A>C (p.Asp121Ala) | |
| 15 | g.90761049A>G | CA393843591 | BLM | c.1676A>G (p.Asp559Gly) c.*600A>G (n.*600A>G) c.551A>G (p.Asp184Gly) c.362A>G (p.Asp121Gly) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90761049A>T | CA393843592 | BLM | c.1676A>T (p.Asp559Val) c.*600A>T (n.*600A>T) c.551A>T (p.Asp184Val) c.362A>T (p.Asp121Val) | ClinVar dbSNP |