Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.80591665G>A | CA491688746 | ARNT2 | c.2016G>A (p.Gln672=) c.1983G>A (p.Gln661=) c.*314G>A (n.*314G>A) | |
15 | g.80591665G>C | CA393625262 | ARNT2 | c.2016G>C (p.Gln672His) c.1983G>C (p.Gln661His) c.*314G>C (n.*314G>C) | |
15 | g.80591665G>T | CA393625260 | ARNT2 | c.2016G>T (p.Gln672His) c.1983G>T (p.Gln661His) c.*314G>T (n.*314G>T) | |
15 | g.80591666C>A | CA393625265 | ARNT2 | c.2017C>A (p.His673Asn) c.1984C>A (p.His662Asn) c.*315C>A (n.*315C>A) | |
15 | g.80591666C>G | CA393625267 | ARNT2 | c.2017C>G (p.His673Asp) c.1984C>G (p.His662Asp) c.*315C>G (n.*315C>G) | |
15 | g.80591666C>T | CA393625270 | ARNT2 | c.2017C>T (p.His673Tyr) c.1984C>T (p.His662Tyr) c.*315C>T (n.*315C>T) | |
15 | g.80591667A= | CA2190489704 | ARNT2 | c.2018A= (p.His673=) c.1985A= (p.His662=) c.*316A= (n.*316A=) | |
15 | g.80591667A>C | CA393625272 | ARNT2 | c.2018A>C (p.His673Pro) c.1985A>C (p.His662Pro) c.*316A>C (n.*316A>C) | dbSNP |
15 | g.80591667A>G | CA393625274 | ARNT2 | c.2018A>G (p.His673Arg) c.1985A>G (p.His662Arg) c.*316A>G (n.*316A>G) | |
15 | g.80591667A>T | CA393625275 | ARNT2 | c.2018A>T (p.His673Leu) c.1985A>T (p.His662Leu) c.*316A>T (n.*316A>T) | |
15 | g.80591668C>A | CA393625277 | ARNT2 | c.2019C>A (p.His673Gln) c.1986C>A (p.His662Gln) c.*317C>A (n.*317C>A) | |
15 | g.80591668C= | CA2190489706 | ARNT2 | c.2019C= (p.His673=) c.1986C= (p.His662=) c.*317C= (n.*317C=) | |
15 | g.80591668C>G | CA393625278 | ARNT2 | c.2019C>G (p.His673Gln) c.1986C>G (p.His662Gln) c.*317C>G (n.*317C>G) | |
15 | g.80591668C>T | CA7692241 | ARNT2 | c.2019C>T (p.His673=) c.1986C>T (p.His662=) c.*317C>T (n.*317C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80591669T>A | CA393625282 | ARNT2 | c.2020T>A (p.Ser674Thr) c.1987T>A (p.Ser663Thr) c.*318T>A (n.*318T>A) | |
15 | g.80591669T>C | CA393625284 | ARNT2 | c.2020T>C (p.Ser674Pro) c.1987T>C (p.Ser663Pro) c.*318T>C (n.*318T>C) | |
15 | g.80591669T>G | CA393625287 | ARNT2 | c.2020T>G (p.Ser674Ala) c.1987T>G (p.Ser663Ala) c.*318T>G (n.*318T>G) | |
15 | g.80591670C>A | CA393625294 | ARNT2 | c.2021C>A (p.Ser674Tyr) c.1988C>A (p.Ser663Tyr) c.*319C>A (n.*319C>A) | |
15 | g.80591670C>G | CA393625290 | ARNT2 | c.2021C>G (p.Ser674Cys) c.1988C>G (p.Ser663Cys) c.*319C>G (n.*319C>G) | |
15 | g.80591670C>T | CA393625292 | ARNT2 | c.2021C>T (p.Ser674Phe) c.1988C>T (p.Ser663Phe) c.*319C>T (n.*319C>T) | |
15 | g.80591671C>A | CA491688756 | ARNT2 | c.2022C>A (p.Ser674=) c.1989C>A (p.Ser663=) c.*320C>A (n.*320C>A) | |
15 | g.80591671C>G | CA491688758 | ARNT2 | c.2022C>G (p.Ser674=) c.1989C>G (p.Ser663=) c.*320C>G (n.*320C>G) | |
15 | g.80591671C>T | CA491688759 | ARNT2 | c.2022C>T (p.Ser674=) c.1989C>T (p.Ser663=) c.*320C>T (n.*320C>T) | |
15 | g.80591672C>A | CA393625297 | ARNT2 | c.2023C>A (p.His675Asn) c.1990C>A (p.His664Asn) c.*321C>A (n.*321C>A) | gnomAD v4 COSMIC |
15 | g.80591672C>G | CA393625299 | ARNT2 | c.2023C>G (p.His675Asp) c.1990C>G (p.His664Asp) c.*321C>G (n.*321C>G) | |
15 | g.80591672C>T | CA393625301 | ARNT2 | c.2023C>T (p.His675Tyr) c.1990C>T (p.His664Tyr) c.*321C>T (n.*321C>T) | |
15 | g.80591673A>C | CA393625303 | ARNT2 | c.2024A>C (p.His675Pro) c.1991A>C (p.His664Pro) c.*322A>C (n.*322A>C) | |
15 | g.80591673A>G | CA393625306 | ARNT2 | c.2024A>G (p.His675Arg) c.1991A>G (p.His664Arg) c.*322A>G (n.*322A>G) | |
15 | g.80591673A>T | CA393625308 | ARNT2 | c.2024A>T (p.His675Leu) c.1991A>T (p.His664Leu) c.*322A>T (n.*322A>T) | |
15 | g.80591674C>A | CA393625311 | ARNT2 | c.2025C>A (p.His675Gln) c.1992C>A (p.His664Gln) c.*323C>A (n.*323C>A) | |
15 | g.80591674C>G | CA393625313 | ARNT2 | c.2025C>G (p.His675Gln) c.1992C>G (p.His664Gln) c.*323C>G (n.*323C>G) | |
15 | g.80591674C>T | CA491688763 | ARNT2 | c.2025C>T (p.His675=) c.1992C>T (p.His664=) c.*323C>T (n.*323C>T) | |
15 | g.80591675C>A | CA393625316 | ARNT2 | c.2026C>A (p.Gln676Lys) c.1993C>A (p.Gln665Lys) c.*324C>A (n.*324C>A) | |
15 | g.80591675C>G | CA393625318 | ARNT2 | c.2026C>G (p.Gln676Glu) c.1993C>G (p.Gln665Glu) c.*324C>G (n.*324C>G) | |
15 | g.80591675C>T | CA393625320 | ARNT2 | c.2026C>T (p.Gln676Ter) c.1993C>T (p.Gln665Ter) c.*324C>T (n.*324C>T) | |
15 | g.80591676A>C | CA393625328 | ARNT2 | c.2027A>C (p.Gln676Pro) c.1994A>C (p.Gln665Pro) c.*325A>C (n.*325A>C) | |
15 | g.80591676A>G | CA393625326 | ARNT2 | c.2027A>G (p.Gln676Arg) c.1994A>G (p.Gln665Arg) c.*325A>G (n.*325A>G) | |
15 | g.80591676A>T | CA393625324 | ARNT2 | c.2027A>T (p.Gln676Leu) c.1994A>T (p.Gln665Leu) c.*325A>T (n.*325A>T) | |
15 | g.80591677G>A | CA491688772 | ARNT2 | c.2028G>A (p.Gln676=) c.1995G>A (p.Gln665=) c.*326G>A (n.*326G>A) | gnomAD v4 |
15 | g.80591677G>C | CA393625331 | ARNT2 | c.2028G>C (p.Gln676His) c.1995G>C (p.Gln665His) c.*326G>C (n.*326G>C) | |
15 | g.80591677G>T | CA393625333 | ARNT2 | c.2028G>T (p.Gln676His) c.1995G>T (p.Gln665His) c.*326G>T (n.*326G>T) | |
15 | g.80591678C>A | CA393625335 | ARNT2 | c.2029C>A (p.Gln677Lys) c.1996C>A (p.Gln666Lys) c.*327C>A (n.*327C>A) | dbSNP |
15 | g.80591678C= | CA2190489710 | ARNT2 | c.2029C= (p.Gln677=) c.1996C= (p.Gln666=) c.*327C= (n.*327C=) | |
15 | g.80591678C>G | CA393625338 | ARNT2 | c.2029C>G (p.Gln677Glu) c.1996C>G (p.Gln666Glu) c.*327C>G (n.*327C>G) | |
15 | g.80591678C>T | CA393625340 | ARNT2 | c.2029C>T (p.Gln677Ter) c.1996C>T (p.Gln666Ter) c.*327C>T (n.*327C>T) | |
15 | g.80591679A>C | CA393625347 | ARNT2 | c.2030A>C (p.Gln677Pro) c.1997A>C (p.Gln666Pro) c.*328A>C (n.*328A>C) | |
15 | g.80591679A>G | CA393625345 | ARNT2 | c.2030A>G (p.Gln677Arg) c.1997A>G (p.Gln666Arg) c.*328A>G (n.*328A>G) | |
15 | g.80591679A>T | CA393625343 | ARNT2 | c.2030A>T (p.Gln677Leu) c.1997A>T (p.Gln666Leu) c.*328A>T (n.*328A>T) | |
15 | g.80591680G>A | CA7692242 | ARNT2 | c.2031G>A (p.Gln677=) c.1998G>A (p.Gln666=) c.*329G>A (n.*329G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80591680G>C | CA393625352 | ARNT2 | c.2031G>C (p.Gln677His) c.1998G>C (p.Gln666His) c.*329G>C (n.*329G>C) | |
15 | g.80591680G= | CA2190489712 | ARNT2 | c.2031G= (p.Gln677=) c.1998G= (p.Gln666=) c.*329G= (n.*329G=) | |
15 | g.80591680G>T | CA393625354 | ARNT2 | c.2031G>T (p.Gln677His) c.1998G>T (p.Gln666His) c.*329G>T (n.*329G>T) | gnomAD v4 |
15 | g.80591681C>A | CA393625356 | ARNT2 | c.2032C>A (p.Pro678Thr) c.1999C>A (p.Pro667Thr) c.*330C>A (n.*330C>A) | |
15 | g.80591681C>G | CA393625358 | ARNT2 | c.2032C>G (p.Pro678Ala) c.1999C>G (p.Pro667Ala) c.*330C>G (n.*330C>G) | |
15 | g.80591681C>T | CA393625359 | ARNT2 | c.2032C>T (p.Pro678Ser) c.1999C>T (p.Pro667Ser) c.*330C>T (n.*330C>T) | |
15 | g.80591682C>A | CA393625360 | ARNT2 | c.2033C>A (p.Pro678His) c.2000C>A (p.Pro667His) c.*331C>A (n.*331C>A) | |
15 | g.80591682C>G | CA393625362 | ARNT2 | c.2033C>G (p.Pro678Arg) c.2000C>G (p.Pro667Arg) c.*331C>G (n.*331C>G) | |
15 | g.80591682C>T | CA393625361 | ARNT2 | c.2033C>T (p.Pro678Leu) c.2000C>T (p.Pro667Leu) c.*331C>T (n.*331C>T) | |
15 | g.80591683C>A | CA491688779 | ARNT2 | c.2034C>A (p.Pro678=) c.2001C>A (p.Pro667=) c.*332C>A (n.*332C>A) | |
15 | g.80591683C= | CA2190489716 | ARNT2 | c.2034C= (p.Pro678=) c.2001C= (p.Pro667=) c.*332C= (n.*332C=) | |
15 | g.80591683C>G | CA7692244 | ARNT2 | c.2034C>G (p.Pro678=) c.2001C>G (p.Pro667=) c.*332C>G (n.*332C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.80591683C>T | CA7692243 | ARNT2 | c.2034C>T (p.Pro678=) c.2001C>T (p.Pro667=) c.*332C>T (n.*332C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80591684G>A | CA7692245 | ARNT2 | c.2035G>A (p.Gly679Ser) c.2002G>A (p.Gly668Ser) c.*333G>A (n.*333G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80591684G>C | CA393625369 | ARNT2 | c.2035G>C (p.Gly679Arg) c.2002G>C (p.Gly668Arg) c.*333G>C (n.*333G>C) | |
15 | g.80591684G= | CA2190489718 | ARNT2 | c.2035G= (p.Gly679=) c.2002G= (p.Gly668=) c.*333G= (n.*333G=) | |
15 | g.80591684G>T | CA393625372 | ARNT2 | c.2035G>T (p.Gly679Cys) c.2002G>T (p.Gly668Cys) c.*333G>T (n.*333G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.80591685G>A | CA393625375 | ARNT2 | c.2036G>A (p.Gly679Asp) c.2003G>A (p.Gly668Asp) c.*334G>A (n.*334G>A) | |
15 | g.80591685G>C | CA393625377 | ARNT2 | c.2036G>C (p.Gly679Ala) c.2003G>C (p.Gly668Ala) c.*334G>C (n.*334G>C) | |
15 | g.80591685G>T | CA393625379 | ARNT2 | c.2036G>T (p.Gly679Val) c.2003G>T (p.Gly668Val) c.*334G>T (n.*334G>T) | COSMIC |
15 | g.80591686T>A | CA491688782 | ARNT2 | c.2037T>A (p.Gly679=) c.2004T>A (p.Gly668=) c.*335T>A (n.*335T>A) | |
15 | g.80591686T>C | CA491688781 | ARNT2 | c.2037T>C (p.Gly679=) c.2004T>C (p.Gly668=) c.*335T>C (n.*335T>C) | |
15 | g.80591686T>G | CA491688780 | ARNT2 | c.2037T>G (p.Gly679=) c.2004T>G (p.Gly668=) c.*335T>G (n.*335T>G) | |
15 | g.80591687C>A | CA393625381 | ARNT2 | c.2038C>A (p.Gln680Lys) c.2005C>A (p.Gln669Lys) c.*336C>A (n.*336C>A) | |
15 | g.80591687C>G | CA393625384 | ARNT2 | c.2038C>G (p.Gln680Glu) c.2005C>G (p.Gln669Glu) c.*336C>G (n.*336C>G) | gnomAD v3 gnomAD v4 |
15 | g.80591687C>T | CA393625387 | ARNT2 | c.2038C>T (p.Gln680Ter) c.2005C>T (p.Gln669Ter) c.*336C>T (n.*336C>T) | |
15 | g.80591688A>C | CA393625394 | ARNT2 | c.2039A>C (p.Gln680Pro) c.2006A>C (p.Gln669Pro) c.*337A>C (n.*337A>C) | |
15 | g.80591688A>G | CA393625391 | ARNT2 | c.2039A>G (p.Gln680Arg) c.2006A>G (p.Gln669Arg) c.*337A>G (n.*337A>G) | |
15 | g.80591688A>T | CA393625389 | ARNT2 | c.2039A>T (p.Gln680Leu) c.2006A>T (p.Gln669Leu) c.*337A>T (n.*337A>T) | |
15 | g.80591689G>A | CA491688783 | ARNT2 | c.2040G>A (p.Gln680=) c.2007G>A (p.Gln669=) c.*338G>A (n.*338G>A) | |
15 | g.80591689G>C | CA393625397 | ARNT2 | c.2040G>C (p.Gln680His) c.2007G>C (p.Gln669His) c.*338G>C (n.*338G>C) | |
15 | g.80591689G>T | CA393625399 | ARNT2 | c.2040G>T (p.Gln680His) c.2007G>T (p.Gln669His) c.*338G>T (n.*338G>T) | |
15 | g.80591690A>C | CA393625402 | ARNT2 | c.2041A>C (p.Thr681Pro) c.2008A>C (p.Thr670Pro) c.*339A>C (n.*339A>C) | |
15 | g.80591690A>G | CA393625404 | ARNT2 | c.2041A>G (p.Thr681Ala) c.2008A>G (p.Thr670Ala) c.*339A>G (n.*339A>G) | |
15 | g.80591690A>T | CA393625406 | ARNT2 | c.2041A>T (p.Thr681Ser) c.2008A>T (p.Thr670Ser) c.*339A>T (n.*339A>T) | |
15 | g.80591691C>A | CA393625409 | ARNT2 | c.2042C>A (p.Thr681Asn) c.2009C>A (p.Thr670Asn) c.*340C>A (n.*340C>A) | |
15 | g.80591691C= | CA2190489721 | ARNT2 | c.2042C= (p.Thr681=) c.2009C= (p.Thr670=) c.*340C= (n.*340C=) | |
15 | g.80591691C>G | CA393625410 | ARNT2 | c.2042C>G (p.Thr681Ser) c.2009C>G (p.Thr670Ser) c.*340C>G (n.*340C>G) | |
15 | g.80591691C>T | CA393625413 | ARNT2 | c.2042C>T (p.Thr681Ile) c.2009C>T (p.Thr670Ile) c.*340C>T (n.*340C>T) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.80591692T>A | CA491688784 | ARNT2 | c.2043T>A (p.Thr681=) c.2010T>A (p.Thr670=) c.*341T>A (n.*341T>A) | |
15 | g.80591692T>C | CA491688785 | ARNT2 | c.2043T>C (p.Thr681=) c.2010T>C (p.Thr670=) c.*341T>C (n.*341T>C) | |
15 | g.80591692T>G | CA491688786 | ARNT2 | c.2043T>G (p.Thr681=) c.2010T>G (p.Thr670=) c.*341T>G (n.*341T>G) | |
15 | g.80591693G>A | CA393625421 | ARNT2 | c.2044G>A (p.Glu682Lys) c.2011G>A (p.Glu671Lys) c.*342G>A (n.*342G>A) | |
15 | g.80591693G>C | CA393625419 | ARNT2 | c.2044G>C (p.Glu682Gln) c.2011G>C (p.Glu671Gln) c.*342G>C (n.*342G>C) | |
15 | g.80591693G>T | CA393625416 | ARNT2 | c.2044G>T (p.Glu682Ter) c.2011G>T (p.Glu671Ter) c.*342G>T (n.*342G>T) | |
15 | g.80591694A>C | CA393625425 | ARNT2 | c.2045A>C (p.Glu682Ala) c.2012A>C (p.Glu671Ala) c.*343A>C (n.*343A>C) | gnomAD v4 |
15 | g.80591694A>G | CA393625427 | ARNT2 | c.2045A>G (p.Glu682Gly) c.2012A>G (p.Glu671Gly) c.*343A>G (n.*343A>G) | gnomAD v4 |
15 | g.80591694A>T | CA393625430 | ARNT2 | c.2045A>T (p.Glu682Val) c.2012A>T (p.Glu671Val) c.*343A>T (n.*343A>T) | |
15 | g.80591695A= | CA2190489724 | ARNT2 | c.2046A= (p.Glu682=) c.2013A= (p.Glu671=) c.*344A= (n.*344A=) | |
15 | g.80591695A>C | CA393625433 | ARNT2 | c.2046A>C (p.Glu682Asp) c.2013A>C (p.Glu671Asp) c.*344A>C (n.*344A>C) | |
15 | g.80591695A>G | CA7692246 | ARNT2 | c.2046A>G (p.Glu682=) c.2013A>G (p.Glu671=) c.*344A>G (n.*344A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.80591695A>T | CA393625437 | ARNT2 | c.2046A>T (p.Glu682Asp) c.2013A>T (p.Glu671Asp) c.*344A>T (n.*344A>T) | |
15 | g.80591696G>A | CA7692247 | ARNT2 | c.2047G>A (p.Val683Met) c.2014G>A (p.Val672Met) c.*345G>A (n.*345G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.80591696G>C | CA393625444 | ARNT2 | c.2047G>C (p.Val683Leu) c.2014G>C (p.Val672Leu) c.*345G>C (n.*345G>C) | |
15 | g.80591696G= | CA2190489728 | ARNT2 | c.2047G= (p.Val683=) c.2014G= (p.Val672=) c.*345G= (n.*345G=) | |
15 | g.80591696G>T | CA393625441 | ARNT2 | c.2047G>T (p.Val683Leu) c.2014G>T (p.Val672Leu) c.*345G>T (n.*345G>T) | COSMIC |
15 | g.80591697T>A | CA393625447 | ARNT2 | c.2048T>A (p.Val683Glu) c.2015T>A (p.Val672Glu) c.*346T>A (n.*346T>A) | |
15 | g.80591697T>C | CA393625449 | ARNT2 | c.2048T>C (p.Val683Ala) c.2015T>C (p.Val672Ala) c.*346T>C (n.*346T>C) | |
15 | g.80591697T>G | CA393625451 | ARNT2 | c.2048T>G (p.Val683Gly) c.2015T>G (p.Val672Gly) c.*346T>G (n.*346T>G) | gnomAD v4 |
15 | g.80591698G>A | CA491688788 | ARNT2 | c.2049G>A (p.Val683=) c.2016G>A (p.Val672=) c.*347G>A (n.*347G>A) | dbSNP |
15 | g.80591698G>C | CA491688789 | ARNT2 | c.2049G>C (p.Val683=) c.2016G>C (p.Val672=) c.*347G>C (n.*347G>C) | |
15 | g.80591698G= | CA2190489733 | ARNT2 | c.2049G= (p.Val683=) c.2016G= (p.Val672=) c.*347G= (n.*347G=) | |
15 | g.80591698G>T | CA491688790 | ARNT2 | c.2049G>T (p.Val683=) c.2016G>T (p.Val672=) c.*347G>T (n.*347G>T) | ClinVar dbSNP |
15 | g.80591699T>A | CA393625454 | ARNT2 | c.2050T>A (p.Phe684Ile) c.2017T>A (p.Phe673Ile) c.*348T>A (n.*348T>A) | |
15 | g.80591699T>C | CA393625457 | ARNT2 | c.2050T>C (p.Phe684Leu) c.2017T>C (p.Phe673Leu) c.*348T>C (n.*348T>C) | |
15 | g.80591699T>G | CA393625460 | ARNT2 | c.2050T>G (p.Phe684Val) c.2017T>G (p.Phe673Val) c.*348T>G (n.*348T>G) | |
15 | g.80591700T>A | CA393625462 | ARNT2 | c.2051T>A (p.Phe684Tyr) c.2018T>A (p.Phe673Tyr) c.*349T>A (n.*349T>A) | |
15 | g.80591700T>C | CA393625464 | ARNT2 | c.2051T>C (p.Phe684Ser) c.2018T>C (p.Phe673Ser) c.*349T>C (n.*349T>C) | |
15 | g.80591700T>G | CA393625466 | ARNT2 | c.2051T>G (p.Phe684Cys) c.2018T>G (p.Phe673Cys) c.*349T>G (n.*349T>G) | |
15 | g.80591701C>A | CA393625469 | ARNT2 | c.2052C>A (p.Phe684Leu) c.2019C>A (p.Phe673Leu) c.*350C>A (n.*350C>A) | |
15 | g.80591701C>G | CA393625471 | ARNT2 | c.2052C>G (p.Phe684Leu) c.2019C>G (p.Phe673Leu) c.*350C>G (n.*350C>G) | |
15 | g.80591701C>T | CA491688791 | ARNT2 | c.2052C>T (p.Phe684=) c.2019C>T (p.Phe673=) c.*350C>T (n.*350C>T) | gnomAD v4 COSMIC |
15 | g.80591702C>A | CA393625475 | ARNT2 | c.2053C>A (p.Gln685Lys) c.2020C>A (p.Gln674Lys) c.*351C>A (n.*351C>A) | |
15 | g.80591702C>G | CA393625479 | ARNT2 | c.2053C>G (p.Gln685Glu) c.2020C>G (p.Gln674Glu) c.*351C>G (n.*351C>G) | |
15 | g.80591702C>T | CA393625477 | ARNT2 | c.2053C>T (p.Gln685Ter) c.2020C>T (p.Gln674Ter) c.*351C>T (n.*351C>T) | COSMIC |
15 | g.80591703A>C | CA393625481 | ARNT2 | c.2054A>C (p.Gln685Pro) c.2021A>C (p.Gln674Pro) c.*352A>C (n.*352A>C) | |
15 | g.80591703A>G | CA393625483 | ARNT2 | c.2054A>G (p.Gln685Arg) c.2021A>G (p.Gln674Arg) c.*352A>G (n.*352A>G) | |
15 | g.80591703A>T | CA393625485 | ARNT2 | c.2054A>T (p.Gln685Leu) c.2021A>T (p.Gln674Leu) c.*352A>T (n.*352A>T) | |
15 | g.80591704G>A | CA491688792 | ARNT2 | c.2055G>A (p.Gln685=) c.2022G>A (p.Gln674=) c.*353G>A (n.*353G>A) | |
15 | g.80591704G>C | CA393625487 | ARNT2 | c.2055G>C (p.Gln685His) c.2022G>C (p.Gln674His) c.*353G>C (n.*353G>C) | |
15 | g.80591704G>T | CA393625489 | ARNT2 | c.2055G>T (p.Gln685His) c.2022G>T (p.Gln674His) c.*353G>T (n.*353G>T) | |
15 | g.80591705G>A | CA393625492 | ARNT2 | c.2055+1G>A (n.2055+1G>A) c.2022+1G>A (n.2022+1G>A) c.*353+1G>A (n.*353+1G>A) | |
15 | g.80591705G>C | CA393625494 | ARNT2 | c.2055+1G>C (n.2055+1G>C) c.2022+1G>C (n.2022+1G>C) c.*353+1G>C (n.*353+1G>C) | |
15 | g.80591705G>T | CA393625496 | ARNT2 | c.2055+1G>T (n.2055+1G>T) c.2022+1G>T (n.2022+1G>T) c.*353+1G>T (n.*353+1G>T) | |
15 | g.80591706T>A | CA393625499 | ARNT2 | c.2055+2T>A (n.2055+2T>A) c.2022+2T>A (n.2022+2T>A) c.*353+2T>A (n.*353+2T>A) | |
15 | g.80591706T>C | CA393625502 | ARNT2 | c.2055+2T>C (n.2055+2T>C) c.2022+2T>C (n.2022+2T>C) c.*353+2T>C (n.*353+2T>C) | |
15 | g.80591706T>G | CA393625504 | ARNT2 | c.2055+2T>G (n.2055+2T>G) c.2022+2T>G (n.2022+2T>G) c.*353+2T>G (n.*353+2T>G) | |
15 | g.80591711C>A | CA7692248 | ARNT2 | c.2055+7C>A (n.2055+7C>A) c.2022+7C>A (n.2022+7C>A) c.*353+7C>A (n.*353+7C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80591711C= | CA2190489742 | ARNT2 | c.2055+7C= (n.2055+7C=) c.2022+7C= (n.2022+7C=) c.*353+7C= (n.*353+7C=) | |
15 | g.80591711C>G | CA2190489741 | ARNT2 | c.2055+7C>G (n.2055+7C>G) c.2022+7C>G (n.2022+7C>G) c.*353+7C>G (n.*353+7C>G) | dbSNP |
15 | g.80591711C>T | CA274047172 | ARNT2 | c.2055+7C>T (n.2055+7C>T) c.2022+7C>T (n.2022+7C>T) c.*353+7C>T (n.*353+7C>T) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.80591712del | CA2575810401 | ARNT2 | c.2055+8del (n.2055+8del) c.2022+8del (n.2022+8del) c.*353+8del (n.*353+8del) | |
15 | g.80591712G>A | CA619268108 | ARNT2 | c.2055+8G>A (n.2055+8G>A) c.2022+8G>A (n.2022+8G>A) c.*353+8G>A (n.*353+8G>A) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.80591712G>C | CA971927764 | ARNT2 | c.2055+8G>C (n.2055+8G>C) c.2022+8G>C (n.2022+8G>C) c.*353+8G>C (n.*353+8G>C) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80591712G= | CA2190489747 | ARNT2 | c.2055+8G= (n.2055+8G=) c.2022+8G= (n.2022+8G=) c.*353+8G= (n.*353+8G=) | |
15 | g.80591712G>T | CA2629889040 | ARNT2 | c.2055+8G>T (n.2055+8G>T) c.2022+8G>T (n.2022+8G>T) c.*353+8G>T (n.*353+8G>T) | gnomAD v4 |
15 | g.80591712_80591713delinsGA | CA2190489749 | ARNT2 | c.2055+8_2055+9delinsGA (n.2055+8_2055+9delinsGA) c.2022+8_2022+9delinsGA (n.2022+8_2022+9delinsGA) c.*353+8_*353+9delinsGA (n.*353+8_*353+9delinsGA) | |
15 | g.80591713del | CA2190489750 | ARNT2 | c.2055+9del (n.2055+9del) c.2022+9del (n.2022+9del) c.*353+9del (n.*353+9del) | dbSNP |
15 | g.80591713A= | CA2190489751 | ARNT2 | c.2055+9A= (n.2055+9A=) c.2022+9A= (n.2022+9A=) c.*353+9A= (n.*353+9A=) | |
15 | g.80591713A>G | CA619268109 | ARNT2 | c.2055+9A>G (n.2055+9A>G) c.2022+9A>G (n.2022+9A>G) c.*353+9A>G (n.*353+9A>G) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.80591713A>T | CA2629889041 | ARNT2 | c.2055+9A>T (n.2055+9A>T) c.2022+9A>T (n.2022+9A>T) c.*353+9A>T (n.*353+9A>T) | gnomAD v4 |
15 | g.80591714G>A | CA2629889042 | ARNT2 | c.2055+10G>A (n.2055+10G>A) c.2022+10G>A (n.2022+10G>A) c.*353+10G>A (n.*353+10G>A) | gnomAD v4 |
15 | g.80591714G>C | CA2629889043 | ARNT2 | c.2055+10G>C (n.2055+10G>C) c.2022+10G>C (n.2022+10G>C) c.*353+10G>C (n.*353+10G>C) | gnomAD v4 |
15 | g.80591714G= | CA2190489754 | ARNT2 | c.2055+10G= (n.2055+10G=) c.2022+10G= (n.2022+10G=) c.*353+10G= (n.*353+10G=) | |
15 | g.80591714G>T | CA619268110 | ARNT2 | c.2055+10G>T (n.2055+10G>T) c.2022+10G>T (n.2022+10G>T) c.*353+10G>T (n.*353+10G>T) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.80591715C>A | CA2575810402 | ARNT2 | c.2055+11C>A (n.2055+11C>A) c.2022+11C>A (n.2022+11C>A) c.*353+11C>A (n.*353+11C>A) | |
15 | g.80591715C= | CA2190489756 | ARNT2 | c.2055+11C= (n.2055+11C=) c.2022+11C= (n.2022+11C=) c.*353+11C= (n.*353+11C=) | |
15 | g.80591715C>T | CA7692249 | ARNT2 | c.2055+11C>T (n.2055+11C>T) c.2022+11C>T (n.2022+11C>T) c.*353+11C>T (n.*353+11C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80591716G>A | CA274047179 | ARNT2 | c.2055+12G>A (n.2055+12G>A) c.2022+12G>A (n.2022+12G>A) c.*353+12G>A (n.*353+12G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80591716G>C | CA2629889044 | ARNT2 | c.2055+12G>C (n.2055+12G>C) c.2022+12G>C (n.2022+12G>C) c.*353+12G>C (n.*353+12G>C) | gnomAD v4 |
15 | g.80591716G= | CA2190489759 | ARNT2 | c.2055+12G= (n.2055+12G=) c.2022+12G= (n.2022+12G=) c.*353+12G= (n.*353+12G=) | |
15 | g.80591718G>A | CA7692250 | ARNT2 | c.2055+14G>A (n.2055+14G>A) c.2022+14G>A (n.2022+14G>A) c.*353+14G>A (n.*353+14G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80591718G= | CA2190489761 | ARNT2 | c.2055+14G= (n.2055+14G=) c.2022+14G= (n.2022+14G=) c.*353+14G= (n.*353+14G=) | |
15 | g.80591719C>A | CA7692251 | ARNT2 | c.2055+15C>A (n.2055+15C>A) c.2022+15C>A (n.2022+15C>A) c.*353+15C>A (n.*353+15C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80591719C= | CA2190489764 | ARNT2 | c.2055+15C= (n.2055+15C=) c.2022+15C= (n.2022+15C=) c.*353+15C= (n.*353+15C=) | |
15 | g.80591719C>T | CA7692252 | ARNT2 | c.2055+15C>T (n.2055+15C>T) c.2022+15C>T (n.2022+15C>T) c.*353+15C>T (n.*353+15C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.80591721C= | CA2190489770 | ARNT2 | c.2055+17C= (n.2055+17C=) c.2022+17C= (n.2022+17C=) c.*353+17C= (n.*353+17C=) | |
15 | g.80591721C>T | CA619268111 | ARNT2 | c.2055+17C>T (n.2055+17C>T) c.2022+17C>T (n.2022+17C>T) c.*353+17C>T (n.*353+17C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80591722C>A | CA2804925695 | ARNT2 | c.2055+18C>A (n.2055+18C>A) c.2022+18C>A (n.2022+18C>A) c.*353+18C>A (n.*353+18C>A) | |
15 | g.80591722C= | CA2190489774 | ARNT2 | c.2055+18C= (n.2055+18C=) c.2022+18C= (n.2022+18C=) c.*353+18C= (n.*353+18C=) | |
15 | g.80591722C>G | CA619268112 | ARNT2 | c.2055+18C>G (n.2055+18C>G) c.2022+18C>G (n.2022+18C>G) c.*353+18C>G (n.*353+18C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80591722C>T | CA7692254 | ARNT2 | c.2055+18C>T (n.2055+18C>T) c.2022+18C>T (n.2022+18C>T) c.*353+18C>T (n.*353+18C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.80591731_80591750dup | CA7692253 | ARNT2 | c.2055+27_2055+46dup (n.2055+27_2055+46dup) c.2022+27_2022+46dup (n.2022+27_2022+46dup) c.*353+27_*353+46dup (n.*353+27_*353+46dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80591731_80591750del | CA2541940458 | ARNT2 | c.2055+27_2055+46del (n.2055+27_2055+46del) c.2022+27_2022+46del (n.2022+27_2022+46del) c.*353+27_*353+46del (n.*353+27_*353+46del) | |
15 | g.80591723G>A | CA7692255 | ARNT2 | c.2055+19G>A (n.2055+19G>A) c.2022+19G>A (n.2022+19G>A) c.*353+19G>A (n.*353+19G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.80591723G= | CA2190489777 | ARNT2 | c.2055+19G= (n.2055+19G=) c.2022+19G= (n.2022+19G=) c.*353+19G= (n.*353+19G=) | |
15 | g.80591723G>T | CA2575810403 | ARNT2 | c.2055+19G>T (n.2055+19G>T) c.2022+19G>T (n.2022+19G>T) c.*353+19G>T (n.*353+19G>T) | gnomAD v4 |
15 | g.80591724C>A | CA2629889045 | ARNT2 | c.2055+20C>A (n.2055+20C>A) c.2022+20C>A (n.2022+20C>A) c.*353+20C>A (n.*353+20C>A) | gnomAD v4 |
15 | g.80591725C= | CA2190489780 | ARNT2 | c.2055+21C= (n.2055+21C=) c.2022+21C= (n.2022+21C=) c.*353+21C= (n.*353+21C=) | |
15 | g.80591725C>T | CA2190489781 | ARNT2 | c.2055+21C>T (n.2055+21C>T) c.2022+21C>T (n.2022+21C>T) c.*353+21C>T (n.*353+21C>T) | dbSNP |
15 | g.80591729T>C | CA2629889046 | ARNT2 | c.2055+25T>C (n.2055+25T>C) c.2022+25T>C (n.2022+25T>C) c.*353+25T>C (n.*353+25T>C) | gnomAD v4 |
15 | g.80591730C>A | CA2629889047 | ARNT2 | c.2055+26C>A (n.2055+26C>A) c.2022+26C>A (n.2022+26C>A) c.*353+26C>A (n.*353+26C>A) | gnomAD v4 |
15 | g.80591730C= | CA2190489783 | ARNT2 | c.2055+26C= (n.2055+26C=) c.2022+26C= (n.2022+26C=) c.*353+26C= (n.*353+26C=) | |
15 | g.80591730C>T | CA7692256 | ARNT2 | c.2055+26C>T (n.2055+26C>T) c.2022+26C>T (n.2022+26C>T) c.*353+26C>T (n.*353+26C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.80591731G>A | CA7692257 | ARNT2 | c.2055+27G>A (n.2055+27G>A) c.2022+27G>A (n.2022+27G>A) c.*353+27G>A (n.*353+27G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80591731G>C | CA2575810404 | ARNT2 | c.2055+27G>C (n.2055+27G>C) c.2022+27G>C (n.2022+27G>C) c.*353+27G>C (n.*353+27G>C) | |
15 | g.80591731G= | CA2190489787 | ARNT2 | c.2055+27G= (n.2055+27G=) c.2022+27G= (n.2022+27G=) c.*353+27G= (n.*353+27G=) | |
15 | g.80591731G>T | CA2190489786 | ARNT2 | c.2055+27G>T (n.2055+27G>T) c.2022+27G>T (n.2022+27G>T) c.*353+27G>T (n.*353+27G>T) | dbSNP gnomAD v4 |
15 | g.80591732T>C | CA2629889048 | ARNT2 | c.2055+28T>C (n.2055+28T>C) c.2022+28T>C (n.2022+28T>C) c.*353+28T>C (n.*353+28T>C) | gnomAD v4 |
15 | g.80591733A= | CA2190489789 | ARNT2 | c.2055+29A= (n.2055+29A=) c.2022+29A= (n.2022+29A=) c.*353+29A= (n.*353+29A=) | |
15 | g.80591733A>G | CA7692258 | ARNT2 | c.2055+29A>G (n.2055+29A>G) c.2022+29A>G (n.2022+29A>G) c.*353+29A>G (n.*353+29A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80591734G>A | CA2190489792 | ARNT2 | c.2055+30G>A (n.2055+30G>A) c.2022+30G>A (n.2022+30G>A) c.*353+30G>A (n.*353+30G>A) | dbSNP |
15 | g.80591734G= | CA2190489791 | ARNT2 | c.2055+30G= (n.2055+30G=) c.2022+30G= (n.2022+30G=) c.*353+30G= (n.*353+30G=) | |
15 | g.80591734G>T | CA656645938 | ARNT2 | c.2055+30G>T (n.2055+30G>T) c.2022+30G>T (n.2022+30G>T) c.*353+30G>T (n.*353+30G>T) | COSMIC |
15 | g.80591737A= | CA2190489794 | ARNT2 | c.2055+33A= (n.2055+33A=) c.2022+33A= (n.2022+33A=) c.*353+33A= (n.*353+33A=) | |
15 | g.80591737A>C | CA2190489795 | ARNT2 | c.2055+33A>C (n.2055+33A>C) c.2022+33A>C (n.2022+33A>C) c.*353+33A>C (n.*353+33A>C) | dbSNP |
15 | g.80591737A>T | CA971927765 | ARNT2 | c.2055+33A>T (n.2055+33A>T) c.2022+33A>T (n.2022+33A>T) c.*353+33A>T (n.*353+33A>T) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80591738C= | CA2190489797 | ARNT2 | c.2055+34C= (n.2055+34C=) c.2022+34C= (n.2022+34C=) c.*353+34C= (n.*353+34C=) | |
15 | g.80591738C>G | CA274047265 | ARNT2 | c.2055+34C>G (n.2055+34C>G) c.2022+34C>G (n.2022+34C>G) c.*353+34C>G (n.*353+34C>G) | dbSNP gnomAD v4 |
15 | g.80591739C>T | CA2575810405 | ARNT2 | c.2055+35C>T (n.2055+35C>T) c.2022+35C>T (n.2022+35C>T) c.*353+35C>T (n.*353+35C>T) | gnomAD v4 |
15 | g.80591740G>A | CA7692259 | ARNT2 | c.2055+36G>A (n.2055+36G>A) c.2022+36G>A (n.2022+36G>A) c.*353+36G>A (n.*353+36G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80591740G>C | CA2575810406 | ARNT2 | c.2055+36G>C (n.2055+36G>C) c.2022+36G>C (n.2022+36G>C) c.*353+36G>C (n.*353+36G>C) | gnomAD v4 |
15 | g.80591740G= | CA2190489798 | ARNT2 | c.2055+36G= (n.2055+36G=) c.2022+36G= (n.2022+36G=) c.*353+36G= (n.*353+36G=) | |
15 | g.80591741G= | CA2190489800 | ARNT2 | c.2055+37G= (n.2055+37G=) c.2022+37G= (n.2022+37G=) c.*353+37G= (n.*353+37G=) | |
15 | g.80591741G>T | CA619268113 | ARNT2 | c.2055+37G>T (n.2055+37G>T) c.2022+37G>T (n.2022+37G>T) c.*353+37G>T (n.*353+37G>T) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.80591742C>A | CA2629889049 | ARNT2 | c.2055+38C>A (n.2055+38C>A) c.2022+38C>A (n.2022+38C>A) c.*353+38C>A (n.*353+38C>A) | gnomAD v4 |
15 | g.80591742C= | CA2190489802 | ARNT2 | c.2055+38C= (n.2055+38C=) c.2022+38C= (n.2022+38C=) c.*353+38C= (n.*353+38C=) | |
15 | g.80591742C>T | CA7692260 | ARNT2 | c.2055+38C>T (n.2055+38C>T) c.2022+38C>T (n.2022+38C>T) c.*353+38C>T (n.*353+38C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80591743G>A | CA7692261 | ARNT2 | c.2055+39G>A (n.2055+39G>A) c.2022+39G>A (n.2022+39G>A) c.*353+39G>A (n.*353+39G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80591743G>C | CA7692262 | ARNT2 | c.2055+39G>C (n.2055+39G>C) c.2022+39G>C (n.2022+39G>C) c.*353+39G>C (n.*353+39G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80591743G= | CA2190489808 | ARNT2 | c.2055+39G= (n.2055+39G=) c.2022+39G= (n.2022+39G=) c.*353+39G= (n.*353+39G=) | |
15 | g.80591743G>T | CA7692263 | ARNT2 | c.2055+39G>T (n.2055+39G>T) c.2022+39G>T (n.2022+39G>T) c.*353+39G>T (n.*353+39G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.80591746_80591748delinsTTC | CA2190489809 | ARNT2 | c.2055+42_2055+44delinsTTC (n.2055+42_2055+44delinsTTC) c.2022+42_2022+44delinsTTC (n.2022+42_2022+44delinsTTC) c.*353+42_*353+44delinsTTC (n.*353+42_*353+44delinsTTC) | |
15 | g.80591747T>A | CA2190489812 | ARNT2 | c.2055+43T>A (n.2055+43T>A) c.2022+43T>A (n.2022+43T>A) c.*353+43T>A (n.*353+43T>A) | dbSNP |
15 | g.80591747T>C | CA2575810407 | ARNT2 | c.2055+43T>C (n.2055+43T>C) c.2022+43T>C (n.2022+43T>C) c.*353+43T>C (n.*353+43T>C) | gnomAD v4 |
15 | g.80591747T= | CA2190489811 | ARNT2 | c.2055+43T= (n.2055+43T=) c.2022+43T= (n.2022+43T=) c.*353+43T= (n.*353+43T=) | |
15 | g.80591750_80591751insGTAGGTACCGGCGCCGTCTC | CA2629889050 | ARNT2 | c.2055+46_2055+47insGTAGGTACCGGCGCCGTCTC (n.2055+46_2055+47insGTAGGTACCGGCGCCGTCTC) c.2022+46_2022+47insGTAGGTACCGGCGCCGTCTC (n.2022+46_2022+47insGTAGGTACCGGCGCCGTCTC) c.*353+46_*353+47insGTAGGTACCGGCGCCGTCTC (n.*353+46_*353+47insGTAGGTACCGGCGCCGTCTC) | gnomAD v4 |
15 | g.80591752_80591753del | CA971927766 | ARNT2 | c.2055+48_2055+49del (n.2055+48_2055+49del) c.2022+48_2022+49del (n.2022+48_2022+49del) c.*353+48_*353+49del (n.*353+48_*353+49del) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80591748C= | CA2190489813 | ARNT2 | c.2055+44C= (n.2055+44C=) c.2022+44C= (n.2022+44C=) c.*353+44C= (n.*353+44C=) | |
15 | g.80591748C>G | CA619268114 | ARNT2 | c.2055+44C>G (n.2055+44C>G) c.2022+44C>G (n.2022+44C>G) c.*353+44C>G (n.*353+44C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80591749T>C | CA2541941529 | ARNT2 | c.2055+45T>C (n.2055+45T>C) c.2022+45T>C (n.2022+45T>C) c.*353+45T>C (n.*353+45T>C) | gnomAD v4 |
15 | g.80591750C>A | CA2629889051 | ARNT2 | c.2055+46C>A (n.2055+46C>A) c.2022+46C>A (n.2022+46C>A) c.*353+46C>A (n.*353+46C>A) | gnomAD v4 |
15 | g.80591751T>C | CA274047289 | ARNT2 | c.2055+47T>C (n.2055+47T>C) c.2022+47T>C (n.2022+47T>C) c.*353+47T>C (n.*353+47T>C) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80591751T= | CA2190489814 | ARNT2 | c.2055+47T= (n.2055+47T=) c.2022+47T= (n.2022+47T=) c.*353+47T= (n.*353+47T=) | |
15 | g.80591752C= | CA2190489816 | ARNT2 | c.2055+48C= (n.2055+48C=) c.2022+48C= (n.2022+48C=) c.*353+48C= (n.*353+48C=) | |
15 | g.80591752C>T | CA619268115 | ARNT2 | c.2055+48C>T (n.2055+48C>T) c.2022+48C>T (n.2022+48C>T) c.*353+48C>T (n.*353+48C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80591754G>A | CA2567255676 | ARNT2 | c.2055+50G>A (n.2055+50G>A) c.2022+50G>A (n.2022+50G>A) c.*353+50G>A (n.*353+50G>A) | |
15 | g.80591754G>T | CA2804925696 | ARNT2 | c.2055+50G>T (n.2055+50G>T) c.2022+50G>T (n.2022+50G>T) c.*353+50G>T (n.*353+50G>T) | |
15 | g.80591755C>A | CA2804925697 | ARNT2 | c.2055+51C>A (n.2055+51C>A) c.2022+51C>A (n.2022+51C>A) c.*353+51C>A (n.*353+51C>A) | |
15 | g.80591759C= | CA2190489818 | ARNT2 | c.2055+55C= (n.2055+55C=) c.2022+55C= (n.2022+55C=) c.*353+55C= (n.*353+55C=) | |
15 | g.80591759C>T | CA971927767 | ARNT2 | c.2055+55C>T (n.2055+55C>T) c.2022+55C>T (n.2022+55C>T) c.*353+55C>T (n.*353+55C>T) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80591760T>A | CA2804925698 | ARNT2 | c.2055+56T>A (n.2055+56T>A) c.2022+56T>A (n.2022+56T>A) c.*353+56T>A (n.*353+56T>A) | |
15 | g.80591760T>C | CA2629889052 | ARNT2 | c.2055+56T>C (n.2055+56T>C) c.2022+56T>C (n.2022+56T>C) c.*353+56T>C (n.*353+56T>C) | gnomAD v4 |
15 | g.80591761T>C | CA971927768 | ARNT2 | c.2055+57T>C (n.2055+57T>C) c.2022+57T>C (n.2022+57T>C) c.*353+57T>C (n.*353+57T>C) | dbSNP |
15 | g.80591761T= | CA2190489820 | ARNT2 | c.2055+57T= (n.2055+57T=) c.2022+57T= (n.2022+57T=) c.*353+57T= (n.*353+57T=) | |
15 | g.80591762T>A | CA2190489823 | ARNT2 | c.2055+58T>A (n.2055+58T>A) c.2022+58T>A (n.2022+58T>A) c.*353+58T>A (n.*353+58T>A) | dbSNP gnomAD v4 |
15 | g.80591762T>C | CA2190489821 | ARNT2 | c.2055+58T>C (n.2055+58T>C) c.2022+58T>C (n.2022+58T>C) c.*353+58T>C (n.*353+58T>C) | dbSNP gnomAD v4 |
15 | g.80591762T= | CA2190489822 | ARNT2 | c.2055+58T= (n.2055+58T=) c.2022+58T= (n.2022+58T=) c.*353+58T= (n.*353+58T=) | |
15 | g.80591763C>A | CA2190489827 | ARNT2 | c.2055+59C>A (n.2055+59C>A) c.2022+59C>A (n.2022+59C>A) c.*353+59C>A (n.*353+59C>A) | dbSNP gnomAD v4 |
15 | g.80591763C= | CA2190489826 | ARNT2 | c.2055+59C= (n.2055+59C=) c.2022+59C= (n.2022+59C=) c.*353+59C= (n.*353+59C=) | |
15 | g.80591763C>T | CA2629889053 | ARNT2 | c.2055+59C>T (n.2055+59C>T) c.2022+59C>T (n.2022+59C>T) c.*353+59C>T (n.*353+59C>T) | dbSNP gnomAD v4 |
15 | g.80591767dup | CA2575810408 | ARNT2 | c.2055+63dup (n.2055+63dup) c.2022+63dup (n.2022+63dup) c.*353+63dup (n.*353+63dup) | gnomAD v4 |