Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.197101197A>CCA344014208ASPMn.2108-5033T>G
c.8054T>G (p.Ile2685Ser)
c.4066-5033T>G (n.4066-5033T>G)
c.1816-5033T>G (n.1816-5033T>G)
c.2012T>G (p.Ile671Ser)
1g.197101197A>GCA344014209ASPMn.2108-5033T>C
c.8054T>C (p.Ile2685Thr)
c.4066-5033T>C (n.4066-5033T>C)
c.1816-5033T>C (n.1816-5033T>C)
c.2012T>C (p.Ile671Thr)
1g.197101197A>TCA344014210ASPMn.2108-5033T>A
c.8054T>A (p.Ile2685Asn)
c.4066-5033T>A (n.4066-5033T>A)
c.1816-5033T>A (n.1816-5033T>A)
c.2012T>A (p.Ile671Asn)
1g.197101199_197101200dupCA2586964495ASPMn.2108-5034_2108-5033dup
c.8053_8054dup (p.Gln2686PhefsTer10)
c.4066-5034_4066-5033dup (n.4066-5034_4066-5033dup)
c.1816-5034_1816-5033dup (n.1816-5034_1816-5033dup)
c.2011_2012dup (p.Gln672PhefsTer10)
1g.197101198T>ACA344014211ASPMn.2108-5034A>T
c.8053A>T (p.Ile2685Phe)
c.4066-5034A>T (n.4066-5034A>T)
c.1816-5034A>T (n.1816-5034A>T)
c.2011A>T (p.Ile671Phe)
1g.197101198T>CCA344014212ASPMn.2108-5034A>G
c.8053A>G (p.Ile2685Val)
c.4066-5034A>G (n.4066-5034A>G)
c.1816-5034A>G (n.1816-5034A>G)
c.2011A>G (p.Ile671Val)
1g.197101198T>GCA344014213ASPMn.2108-5034A>C
c.8053A>C (p.Ile2685Leu)
c.4066-5034A>C (n.4066-5034A>C)
c.1816-5034A>C (n.1816-5034A>C)
c.2011A>C (p.Ile671Leu)
1g.197101199A>CCA344014214ASPMn.2108-5035T>G
c.8052T>G (p.Asp2684Glu)
c.4066-5035T>G (n.4066-5035T>G)
c.1816-5035T>G (n.1816-5035T>G)
c.2010T>G (p.Asp670Glu)
1g.197101199A>GCA422805574ASPMn.2108-5035T>C
c.8052T>C (p.Asp2684=)
c.4066-5035T>C (n.4066-5035T>C)
c.1816-5035T>C (n.1816-5035T>C)
c.2010T>C (p.Asp670=)
1g.197101199A>TCA344014215ASPMn.2108-5035T>A
c.8052T>A (p.Asp2684Glu)
c.4066-5035T>A (n.4066-5035T>A)
c.1816-5035T>A (n.1816-5035T>A)
c.2010T>A (p.Asp670Glu)
1g.197101200T>ACA344014216ASPMn.2108-5036A>T
c.8051A>T (p.Asp2684Val)
c.4066-5036A>T (n.4066-5036A>T)
c.1816-5036A>T (n.1816-5036A>T)
c.2009A>T (p.Asp670Val)
1g.197101200T>CCA344014217ASPMn.2108-5036A>G
c.8051A>G (p.Asp2684Gly)
c.4066-5036A>G (n.4066-5036A>G)
c.1816-5036A>G (n.1816-5036A>G)
c.2009A>G (p.Asp670Gly)
1g.197101200T>GCA344014218ASPMn.2108-5036A>C
c.8051A>C (p.Asp2684Ala)
c.4066-5036A>C (n.4066-5036A>C)
c.1816-5036A>C (n.1816-5036A>C)
c.2009A>C (p.Asp670Ala)
1g.197101201C>ACA344014220ASPMn.2108-5037G>T
c.8050G>T (p.Asp2684Tyr)
c.4066-5037G>T (n.4066-5037G>T)
c.1816-5037G>T (n.1816-5037G>T)
c.2008G>T (p.Asp670Tyr)
 dbSNP gnomAD v3 gnomAD v4
1g.197101201C=CA1217929840ASPMn.2108-5037G=
c.8050G= (p.Asp2684=)
c.4066-5037G= (n.4066-5037G=)
c.1816-5037G= (n.1816-5037G=)
c.2008G= (p.Asp670=)
1g.197101201C>GCA344014221ASPMn.2108-5037G>C
c.8050G>C (p.Asp2684His)
c.4066-5037G>C (n.4066-5037G>C)
c.1816-5037G>C (n.1816-5037G>C)
c.2008G>C (p.Asp670His)
1g.197101201C>TCA344014219ASPMn.2108-5037G>A
c.8050G>A (p.Asp2684Asn)
c.4066-5037G>A (n.4066-5037G>A)
c.1816-5037G>A (n.1816-5037G>A)
c.2008G>A (p.Asp670Asn)
 ClinVar dbSNP
1g.197101202C>ACA344014223ASPMn.2108-5038G>T
c.8049G>T (p.Lys2683Asn)
c.4066-5038G>T (n.4066-5038G>T)
c.1816-5038G>T (n.1816-5038G>T)
c.2007G>T (p.Lys669Asn)
 dbSNP
1g.197101202C=CA1217929841ASPMn.2108-5038G=
c.8049G= (p.Lys2683=)
c.4066-5038G= (n.4066-5038G=)
c.1816-5038G= (n.1816-5038G=)
c.2007G= (p.Lys669=)
1g.197101202C>GCA344014222ASPMn.2108-5038G>C
c.8049G>C (p.Lys2683Asn)
c.4066-5038G>C (n.4066-5038G>C)
c.1816-5038G>C (n.1816-5038G>C)
c.2007G>C (p.Lys669Asn)
1g.197101202C>TCA1309295ASPMn.2108-5038G>A
c.8049G>A (p.Lys2683=)
c.4066-5038G>A (n.4066-5038G>A)
c.1816-5038G>A (n.1816-5038G>A)
c.2007G>A (p.Lys669=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197101203T>ACA344014224ASPMn.2108-5039A>T
c.8048A>T (p.Lys2683Met)
c.4066-5039A>T (n.4066-5039A>T)
c.1816-5039A>T (n.1816-5039A>T)
c.2006A>T (p.Lys669Met)
1g.197101203T>CCA344014225ASPMn.2108-5039A>G
c.8048A>G (p.Lys2683Arg)
c.4066-5039A>G (n.4066-5039A>G)
c.1816-5039A>G (n.1816-5039A>G)
c.2006A>G (p.Lys669Arg)
 COSMIC
1g.197101203T>GCA344014226ASPMn.2108-5039A>C
c.8048A>C (p.Lys2683Thr)
c.4066-5039A>C (n.4066-5039A>C)
c.1816-5039A>C (n.1816-5039A>C)
c.2006A>C (p.Lys669Thr)
1g.197101204T>ACA344014229ASPMn.2108-5040A>T
c.8047A>T (p.Lys2683Ter)
c.4066-5040A>T (n.4066-5040A>T)
c.1816-5040A>T (n.1816-5040A>T)
c.2005A>T (p.Lys669Ter)
1g.197101204T>CCA344014228ASPMn.2108-5040A>G
c.8047A>G (p.Lys2683Glu)
c.4066-5040A>G (n.4066-5040A>G)
c.1816-5040A>G (n.1816-5040A>G)
c.2005A>G (p.Lys669Glu)
1g.197101204T>GCA344014227ASPMn.2108-5040A>C
c.8047A>C (p.Lys2683Gln)
c.4066-5040A>C (n.4066-5040A>C)
c.1816-5040A>C (n.1816-5040A>C)
c.2005A>C (p.Lys669Gln)
1g.197101205T>ACA422805579ASPMn.2108-5041A>T
c.8046A>T (p.Arg2682=)
c.4066-5041A>T (n.4066-5041A>T)
c.1816-5041A>T (n.1816-5041A>T)
c.2004A>T (p.Arg668=)
1g.197101205T>CCA422805580ASPMn.2108-5041A>G
c.8046A>G (p.Arg2682=)
c.4066-5041A>G (n.4066-5041A>G)
c.1816-5041A>G (n.1816-5041A>G)
c.2004A>G (p.Arg668=)
 dbSNP gnomAD v4 COSMIC
1g.197101205T>GCA422805581ASPMn.2108-5041A>C
c.8046A>C (p.Arg2682=)
c.4066-5041A>C (n.4066-5041A>C)
c.1816-5041A>C (n.1816-5041A>C)
c.2004A>C (p.Arg668=)
1g.197101206C>ACA344014230ASPMn.2108-5042G>T
c.8045G>T (p.Arg2682Leu)
c.4066-5042G>T (n.4066-5042G>T)
c.1816-5042G>T (n.1816-5042G>T)
c.2003G>T (p.Arg668Leu)
1g.197101206C=CA1217929842ASPMn.2108-5042G=
c.8045G= (p.Arg2682=)
c.4066-5042G= (n.4066-5042G=)
c.1816-5042G= (n.1816-5042G=)
c.2003G= (p.Arg668=)
1g.197101206C>GCA344014231ASPMn.2108-5042G>C
c.8045G>C (p.Arg2682Pro)
c.4066-5042G>C (n.4066-5042G>C)
c.1816-5042G>C (n.1816-5042G>C)
c.2003G>C (p.Arg668Pro)
1g.197101206C>TCA1309296ASPMn.2108-5042G>A
c.8045G>A (p.Arg2682Gln)
c.4066-5042G>A (n.4066-5042G>A)
c.1816-5042G>A (n.1816-5042G>A)
c.2003G>A (p.Arg668Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197101207G>ACA344014232ASPMn.2108-5043C>T
c.8044C>T (p.Arg2682Ter)
c.4066-5043C>T (n.4066-5043C>T)
c.1816-5043C>T (n.1816-5043C>T)
c.2002C>T (p.Arg668Ter)
 dbSNP gnomAD v2 gnomAD v4
1g.197101207G>CCA344014233ASPMn.2108-5043C>G
c.8044C>G (p.Arg2682Gly)
c.4066-5043C>G (n.4066-5043C>G)
c.1816-5043C>G (n.1816-5043C>G)
c.2002C>G (p.Arg668Gly)
1g.197101207G=CA1217929843ASPMn.2108-5043C=
c.8044C= (p.Arg2682=)
c.4066-5043C= (n.4066-5043C=)
c.1816-5043C= (n.1816-5043C=)
c.2002C= (p.Arg668=)
1g.197101207G>TCA422805583ASPMn.2108-5043C>A
c.8044C>A (p.Arg2682=)
c.4066-5043C>A (n.4066-5043C>A)
c.1816-5043C>A (n.1816-5043C>A)
c.2002C>A (p.Arg668=)
1g.197101208T>ACA422805584ASPMn.2108-5044A>T
c.8043A>T (p.Val2681=)
c.4066-5044A>T (n.4066-5044A>T)
c.1816-5044A>T (n.1816-5044A>T)
c.2001A>T (p.Val667=)
1g.197101208T>CCA422805585ASPMn.2108-5044A>G
c.8043A>G (p.Val2681=)
c.4066-5044A>G (n.4066-5044A>G)
c.1816-5044A>G (n.1816-5044A>G)
c.2001A>G (p.Val667=)
1g.197101208T>GCA422805586ASPMn.2108-5044A>C
c.8043A>C (p.Val2681=)
c.4066-5044A>C (n.4066-5044A>C)
c.1816-5044A>C (n.1816-5044A>C)
c.2001A>C (p.Val667=)
1g.197101208dupCA10577223ASPMn.2108-5044dup
c.8043dup (p.Arg2682ThrfsTer26)
c.4066-5044dup (n.4066-5044dup)
c.1816-5044dup (n.1816-5044dup)
c.2001dup (p.Arg668ThrfsTer26)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.197101209A=CA1217929844ASPMn.2108-5045T=
c.8042T= (p.Val2681=)
c.4066-5045T= (n.4066-5045T=)
c.1816-5045T= (n.1816-5045T=)
c.2000T= (p.Val667=)
1g.197101209A>CCA1309297ASPMn.2108-5045T>G
c.8042T>G (p.Val2681Gly)
c.4066-5045T>G (n.4066-5045T>G)
c.1816-5045T>G (n.1816-5045T>G)
c.2000T>G (p.Val667Gly)
 dbSNP ExAC gnomAD v3 gnomAD v4
1g.197101209A>GCA344014235ASPMn.2108-5045T>C
c.8042T>C (p.Val2681Ala)
c.4066-5045T>C (n.4066-5045T>C)
c.1816-5045T>C (n.1816-5045T>C)
c.2000T>C (p.Val667Ala)
 dbSNP gnomAD v3 gnomAD v4
1g.197101209A>TCA344014234ASPMn.2108-5045T>A
c.8042T>A (p.Val2681Glu)
c.4066-5045T>A (n.4066-5045T>A)
c.1816-5045T>A (n.1816-5045T>A)
c.2000T>A (p.Val667Glu)
1g.197101210C>ACA344014236ASPMn.2108-5046G>T
c.8041G>T (p.Val2681Leu)
c.4066-5046G>T (n.4066-5046G>T)
c.1816-5046G>T (n.1816-5046G>T)
c.1999G>T (p.Val667Leu)
1g.197101210C>GCA344014237ASPMn.2108-5046G>C
c.8041G>C (p.Val2681Leu)
c.4066-5046G>C (n.4066-5046G>C)
c.1816-5046G>C (n.1816-5046G>C)
c.1999G>C (p.Val667Leu)
1g.197101210C>TCA344014238ASPMn.2108-5046G>A
c.8041G>A (p.Val2681Ile)
c.4066-5046G>A (n.4066-5046G>A)
c.1816-5046G>A (n.1816-5046G>A)
c.1999G>A (p.Val667Ile)
1g.197101211T>ACA344014239ASPMn.2108-5047A>T
c.8040A>T (p.Lys2680Asn)
c.4066-5047A>T (n.4066-5047A>T)
c.1816-5047A>T (n.1816-5047A>T)
c.1998A>T (p.Lys666Asn)
1g.197101211T>CCA422805589ASPMn.2108-5047A>G
c.8040A>G (p.Lys2680=)
c.4066-5047A>G (n.4066-5047A>G)
c.1816-5047A>G (n.1816-5047A>G)
c.1998A>G (p.Lys666=)
1g.197101211T>GCA344014240ASPMn.2108-5047A>C
c.8040A>C (p.Lys2680Asn)
c.4066-5047A>C (n.4066-5047A>C)
c.1816-5047A>C (n.1816-5047A>C)
c.1998A>C (p.Lys666Asn)
1g.197101212T>ACA344014241ASPMn.2108-5048A>T
c.8039A>T (p.Lys2680Ile)
c.4066-5048A>T (n.4066-5048A>T)
c.1816-5048A>T (n.1816-5048A>T)
c.1997A>T (p.Lys666Ile)
1g.197101212T>CCA344014242ASPMn.2108-5048A>G
c.8039A>G (p.Lys2680Arg)
c.4066-5048A>G (n.4066-5048A>G)
c.1816-5048A>G (n.1816-5048A>G)
c.1997A>G (p.Lys666Arg)
1g.197101212T>GCA344014243ASPMn.2108-5048A>C
c.8039A>C (p.Lys2680Thr)
c.4066-5048A>C (n.4066-5048A>C)
c.1816-5048A>C (n.1816-5048A>C)
c.1997A>C (p.Lys666Thr)
1g.197101213T>ACA344014244ASPMn.2108-5049A>T
c.8038A>T (p.Lys2680Ter)
c.4066-5049A>T (n.4066-5049A>T)
c.1816-5049A>T (n.1816-5049A>T)
c.1996A>T (p.Lys666Ter)
 gnomAD v4
1g.197101213T>CCA344014245ASPMn.2108-5049A>G
c.8038A>G (p.Lys2680Glu)
c.4066-5049A>G (n.4066-5049A>G)
c.1816-5049A>G (n.1816-5049A>G)
c.1996A>G (p.Lys666Glu)
 gnomAD v4
1g.197101213T>GCA344014246ASPMn.2108-5049A>C
c.8038A>C (p.Lys2680Gln)
c.4066-5049A>C (n.4066-5049A>C)
c.1816-5049A>C (n.1816-5049A>C)
c.1996A>C (p.Lys666Gln)
1g.197101214A=CA1217929845ASPMn.2108-5050T=
c.8037T= (p.Phe2679=)
c.4066-5050T= (n.4066-5050T=)
c.1816-5050T= (n.1816-5050T=)
c.1995T= (p.Phe665=)
1g.197101214A>CCA344014247ASPMn.2108-5050T>G
c.8037T>G (p.Phe2679Leu)
c.4066-5050T>G (n.4066-5050T>G)
c.1816-5050T>G (n.1816-5050T>G)
c.1995T>G (p.Phe665Leu)
1g.197101214A>GCA422805593ASPMn.2108-5050T>C
c.8037T>C (p.Phe2679=)
c.4066-5050T>C (n.4066-5050T>C)
c.1816-5050T>C (n.1816-5050T>C)
c.1995T>C (p.Phe665=)
1g.197101214A>TCA344014248ASPMn.2108-5050T>A
c.8037T>A (p.Phe2679Leu)
c.4066-5050T>A (n.4066-5050T>A)
c.1816-5050T>A (n.1816-5050T>A)
c.1995T>A (p.Phe665Leu)
 dbSNP gnomAD v3 gnomAD v4
1g.197101215A>CCA344014249ASPMn.2108-5051T>G
c.8036T>G (p.Phe2679Cys)
c.4066-5051T>G (n.4066-5051T>G)
c.1816-5051T>G (n.1816-5051T>G)
c.1994T>G (p.Phe665Cys)
1g.197101215A>GCA344014250ASPMn.2108-5051T>C
c.8036T>C (p.Phe2679Ser)
c.4066-5051T>C (n.4066-5051T>C)
c.1816-5051T>C (n.1816-5051T>C)
c.1994T>C (p.Phe665Ser)
1g.197101215A>TCA344014251ASPMn.2108-5051T>A
c.8036T>A (p.Phe2679Tyr)
c.4066-5051T>A (n.4066-5051T>A)
c.1816-5051T>A (n.1816-5051T>A)
c.1994T>A (p.Phe665Tyr)
1g.197101216A>CCA344014252ASPMn.2108-5052T>G
c.8035T>G (p.Phe2679Val)
c.4066-5052T>G (n.4066-5052T>G)
c.1816-5052T>G (n.1816-5052T>G)
c.1993T>G (p.Phe665Val)
1g.197101216A>GCA344014253ASPMn.2108-5052T>C
c.8035T>C (p.Phe2679Leu)
c.4066-5052T>C (n.4066-5052T>C)
c.1816-5052T>C (n.1816-5052T>C)
c.1993T>C (p.Phe665Leu)
1g.197101216A>TCA344014254ASPMn.2108-5052T>A
c.8035T>A (p.Phe2679Ile)
c.4066-5052T>A (n.4066-5052T>A)
c.1816-5052T>A (n.1816-5052T>A)
c.1993T>A (p.Phe665Ile)
1g.197101217G>ACA422805595ASPMn.2108-5053C>T
c.8034C>T (p.Gly2678=)
c.4066-5053C>T (n.4066-5053C>T)
c.1816-5053C>T (n.1816-5053C>T)
c.1992C>T (p.Gly664=)
 dbSNP gnomAD v4
1g.197101217G>CCA1309298ASPMn.2108-5053C>G
c.8034C>G (p.Gly2678=)
c.4066-5053C>G (n.4066-5053C>G)
c.1816-5053C>G (n.1816-5053C>G)
c.1992C>G (p.Gly664=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197101217G=CA1148224839ASPMn.2108-5053C=
c.8034C= (p.Gly2678=)
c.4066-5053C= (n.4066-5053C=)
c.1816-5053C= (n.1816-5053C=)
c.1992C= (p.Gly664=)
1g.197101217G>TCA271114ASPMn.2108-5053C>A
c.8034C>A (p.Gly2678=)
c.4066-5053C>A (n.4066-5053C>A)
c.1816-5053C>A (n.1816-5053C>A)
c.1992C>A (p.Gly664=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197101218C>ACA344014255ASPMn.2108-5054G>T
c.8033G>T (p.Gly2678Val)
c.4066-5054G>T (n.4066-5054G>T)
c.1816-5054G>T (n.1816-5054G>T)
c.1991G>T (p.Gly664Val)
 gnomAD v4
1g.197101218C>GCA344014256ASPMn.2108-5054G>C
c.8033G>C (p.Gly2678Ala)
c.4066-5054G>C (n.4066-5054G>C)
c.1816-5054G>C (n.1816-5054G>C)
c.1991G>C (p.Gly664Ala)
1g.197101218C>TCA344014257ASPMn.2108-5054G>A
c.8033G>A (p.Gly2678Asp)
c.4066-5054G>A (n.4066-5054G>A)
c.1816-5054G>A (n.1816-5054G>A)
c.1991G>A (p.Gly664Asp)
 gnomAD v4
1g.197101219C>ACA344014258ASPMn.2108-5055G>T
c.8032G>T (p.Gly2678Cys)
c.4066-5055G>T (n.4066-5055G>T)
c.1816-5055G>T (n.1816-5055G>T)
c.1990G>T (p.Gly664Cys)
1g.197101219C>GCA344014259ASPMn.2108-5055G>C
c.8032G>C (p.Gly2678Arg)
c.4066-5055G>C (n.4066-5055G>C)
c.1816-5055G>C (n.1816-5055G>C)
c.1990G>C (p.Gly664Arg)
1g.197101219C>TCA344014260ASPMn.2108-5055G>A
c.8032G>A (p.Gly2678Ser)
c.4066-5055G>A (n.4066-5055G>A)
c.1816-5055G>A (n.1816-5055G>A)
c.1990G>A (p.Gly664Ser)
 gnomAD v4
1g.197101220T>ACA344014261ASPMn.2108-5056A>T
c.8031A>T (p.Arg2677Ser)
c.4066-5056A>T (n.4066-5056A>T)
c.1816-5056A>T (n.1816-5056A>T)
c.1989A>T (p.Arg663Ser)
1g.197101220T>CCA422805598ASPMn.2108-5056A>G
c.8031A>G (p.Arg2677=)
c.4066-5056A>G (n.4066-5056A>G)
c.1816-5056A>G (n.1816-5056A>G)
c.1989A>G (p.Arg663=)
 gnomAD v4
1g.197101220T>GCA344014262ASPMn.2108-5056A>C
c.8031A>C (p.Arg2677Ser)
c.4066-5056A>C (n.4066-5056A>C)
c.1816-5056A>C (n.1816-5056A>C)
c.1989A>C (p.Arg663Ser)
1g.197101221C>ACA344014263ASPMn.2108-5057G>T
c.8030G>T (p.Arg2677Ile)
c.4066-5057G>T (n.4066-5057G>T)
c.1816-5057G>T (n.1816-5057G>T)
c.1988G>T (p.Arg663Ile)
1g.197101221C>GCA344014264ASPMn.2108-5057G>C
c.8030G>C (p.Arg2677Thr)
c.4066-5057G>C (n.4066-5057G>C)
c.1816-5057G>C (n.1816-5057G>C)
c.1988G>C (p.Arg663Thr)
1g.197101221C>TCA344014265ASPMn.2108-5057G>A
c.8030G>A (p.Arg2677Lys)
c.4066-5057G>A (n.4066-5057G>A)
c.1816-5057G>A (n.1816-5057G>A)
c.1988G>A (p.Arg663Lys)
1g.197101222T>ACA344014266ASPMn.2108-5058A>T
c.8029A>T (p.Arg2677Ter)
c.4066-5058A>T (n.4066-5058A>T)
c.1816-5058A>T (n.1816-5058A>T)
c.1987A>T (p.Arg663Ter)
1g.197101222T>CCA344014267ASPMn.2108-5058A>G
c.8029A>G (p.Arg2677Gly)
c.4066-5058A>G (n.4066-5058A>G)
c.1816-5058A>G (n.1816-5058A>G)
c.1987A>G (p.Arg663Gly)
 gnomAD v4
1g.197101222T>GCA422805602ASPMn.2108-5058A>C
c.8029A>C (p.Arg2677=)
c.4066-5058A>C (n.4066-5058A>C)
c.1816-5058A>C (n.1816-5058A>C)
c.1987A>C (p.Arg663=)
1g.197101223G>ACA422805603ASPMn.2108-5059C>T
c.8028C>T (p.Tyr2676=)
c.4066-5059C>T (n.4066-5059C>T)
c.1816-5059C>T (n.1816-5059C>T)
c.1986C>T (p.Tyr662=)
1g.197101223G>CCA344014268ASPMn.2108-5059C>G
c.8028C>G (p.Tyr2676Ter)
c.4066-5059C>G (n.4066-5059C>G)
c.1816-5059C>G (n.1816-5059C>G)
c.1986C>G (p.Tyr662Ter)
1g.197101223G>TCA344014269ASPMn.2108-5059C>A
c.8028C>A (p.Tyr2676Ter)
c.4066-5059C>A (n.4066-5059C>A)
c.1816-5059C>A (n.1816-5059C>A)
c.1986C>A (p.Tyr662Ter)
1g.197101224T>ACA344014270ASPMn.2108-5060A>T
c.8027A>T (p.Tyr2676Phe)
c.4066-5060A>T (n.4066-5060A>T)
c.1816-5060A>T (n.1816-5060A>T)
c.1985A>T (p.Tyr662Phe)
1g.197101224T>CCA344014271ASPMn.2108-5060A>G
c.8027A>G (p.Tyr2676Cys)
c.4066-5060A>G (n.4066-5060A>G)
c.1816-5060A>G (n.1816-5060A>G)
c.1985A>G (p.Tyr662Cys)
1g.197101224T>GCA344014272ASPMn.2108-5060A>C
c.8027A>C (p.Tyr2676Ser)
c.4066-5060A>C (n.4066-5060A>C)
c.1816-5060A>C (n.1816-5060A>C)
c.1985A>C (p.Tyr662Ser)
1g.197101225A>CCA344014273ASPMn.2108-5061T>G
c.8026T>G (p.Tyr2676Asp)
c.4066-5061T>G (n.4066-5061T>G)
c.1816-5061T>G (n.1816-5061T>G)
c.1984T>G (p.Tyr662Asp)
1g.197101225A>GCA344014274ASPMn.2108-5061T>C
c.8026T>C (p.Tyr2676His)
c.4066-5061T>C (n.4066-5061T>C)
c.1816-5061T>C (n.1816-5061T>C)
c.1984T>C (p.Tyr662His)
1g.197101225A>TCA344014275ASPMn.2108-5061T>A
c.8026T>A (p.Tyr2676Asn)
c.4066-5061T>A (n.4066-5061T>A)
c.1816-5061T>A (n.1816-5061T>A)
c.1984T>A (p.Tyr662Asn)
1g.197101226A=CA1217929846ASPMn.2108-5062T=
c.8025T= (p.Tyr2675=)
c.4066-5062T= (n.4066-5062T=)
c.1816-5062T= (n.1816-5062T=)
c.1983T= (p.Tyr661=)
1g.197101226A>CCA344014276ASPMn.2108-5062T>G
c.8025T>G (p.Tyr2675Ter)
c.4066-5062T>G (n.4066-5062T>G)
c.1816-5062T>G (n.1816-5062T>G)
c.1983T>G (p.Tyr661Ter)
1g.197101226A>GCA422805606ASPMn.2108-5062T>C
c.8025T>C (p.Tyr2675=)
c.4066-5062T>C (n.4066-5062T>C)
c.1816-5062T>C (n.1816-5062T>C)
c.1983T>C (p.Tyr661=)
 dbSNP gnomAD v3 gnomAD v4
1g.197101226A>TCA344014277ASPMn.2108-5062T>A
c.8025T>A (p.Tyr2675Ter)
c.4066-5062T>A (n.4066-5062T>A)
c.1816-5062T>A (n.1816-5062T>A)
c.1983T>A (p.Tyr661Ter)
1g.197101227T>ACA344014278ASPMn.2108-5063A>T
c.8024A>T (p.Tyr2675Phe)
c.4066-5063A>T (n.4066-5063A>T)
c.1816-5063A>T (n.1816-5063A>T)
c.1982A>T (p.Tyr661Phe)
1g.197101227T>CCA344014280ASPMn.2108-5063A>G
c.8024A>G (p.Tyr2675Cys)
c.4066-5063A>G (n.4066-5063A>G)
c.1816-5063A>G (n.1816-5063A>G)
c.1982A>G (p.Tyr661Cys)
1g.197101227T>GCA344014279ASPMn.2108-5063A>C
c.8024A>C (p.Tyr2675Ser)
c.4066-5063A>C (n.4066-5063A>C)
c.1816-5063A>C (n.1816-5063A>C)
c.1982A>C (p.Tyr661Ser)
1g.197101228A=CA1217929847ASPMn.2108-5064T=
c.8023T= (p.Tyr2675=)
c.4066-5064T= (n.4066-5064T=)
c.1816-5064T= (n.1816-5064T=)
c.1981T= (p.Tyr661=)
1g.197101228A>CCA344014281ASPMn.2108-5064T>G
c.8023T>G (p.Tyr2675Asp)
c.4066-5064T>G (n.4066-5064T>G)
c.1816-5064T>G (n.1816-5064T>G)
c.1981T>G (p.Tyr661Asp)
1g.197101228A>GCA344014283ASPMn.2108-5064T>C
c.8023T>C (p.Tyr2675His)
c.4066-5064T>C (n.4066-5064T>C)
c.1816-5064T>C (n.1816-5064T>C)
c.1981T>C (p.Tyr661His)
 dbSNP
1g.197101228A>TCA344014282ASPMn.2108-5064T>A
c.8023T>A (p.Tyr2675Asn)
c.4066-5064T>A (n.4066-5064T>A)
c.1816-5064T>A (n.1816-5064T>A)
c.1981T>A (p.Tyr661Asn)
1g.197101229A>CCA422805610ASPMn.2108-5065T>G
c.8022T>G (p.Ser2674=)
c.4066-5065T>G (n.4066-5065T>G)
c.1816-5065T>G (n.1816-5065T>G)
c.1980T>G (p.Ser660=)
1g.197101229A>GCA422805611ASPMn.2108-5065T>C
c.8022T>C (p.Ser2674=)
c.4066-5065T>C (n.4066-5065T>C)
c.1816-5065T>C (n.1816-5065T>C)
c.1980T>C (p.Ser660=)
1g.197101229A>TCA422805612ASPMn.2108-5065T>A
c.8022T>A (p.Ser2674=)
c.4066-5065T>A (n.4066-5065T>A)
c.1816-5065T>A (n.1816-5065T>A)
c.1980T>A (p.Ser660=)
1g.197101230G>ACA344014284ASPMn.2108-5066C>T
c.8021C>T (p.Ser2674Phe)
c.4066-5066C>T (n.4066-5066C>T)
c.1816-5066C>T (n.1816-5066C>T)
c.1979C>T (p.Ser660Phe)
1g.197101230G>CCA344014285ASPMn.2108-5066C>G
c.8021C>G (p.Ser2674Cys)
c.4066-5066C>G (n.4066-5066C>G)
c.1816-5066C>G (n.1816-5066C>G)
c.1979C>G (p.Ser660Cys)
1g.197101230G>TCA344014286ASPMn.2108-5066C>A
c.8021C>A (p.Ser2674Tyr)
c.4066-5066C>A (n.4066-5066C>A)
c.1816-5066C>A (n.1816-5066C>A)
c.1979C>A (p.Ser660Tyr)
1g.197101231A>CCA344014287ASPMn.2108-5067T>G
c.8020T>G (p.Ser2674Ala)
c.4066-5067T>G (n.4066-5067T>G)
c.1816-5067T>G (n.1816-5067T>G)
c.1978T>G (p.Ser660Ala)
1g.197101231A>GCA344014288ASPMn.2108-5067T>C
c.8020T>C (p.Ser2674Pro)
c.4066-5067T>C (n.4066-5067T>C)
c.1816-5067T>C (n.1816-5067T>C)
c.1978T>C (p.Ser660Pro)
 gnomAD v4
1g.197101231A>TCA344014289ASPMn.2108-5067T>A
c.8020T>A (p.Ser2674Thr)
c.4066-5067T>A (n.4066-5067T>A)
c.1816-5067T>A (n.1816-5067T>A)
c.1978T>A (p.Ser660Thr)
1g.197101232C>ACA344014290ASPMn.2108-5068G>T
c.8019G>T (p.Gln2673His)
c.4066-5068G>T (n.4066-5068G>T)
c.1816-5068G>T (n.1816-5068G>T)
c.1977G>T (p.Gln659His)
1g.197101232C>GCA344014291ASPMn.2108-5068G>C
c.8019G>C (p.Gln2673His)
c.4066-5068G>C (n.4066-5068G>C)
c.1816-5068G>C (n.1816-5068G>C)
c.1977G>C (p.Gln659His)
1g.197101232C>TCA422805616ASPMn.2108-5068G>A
c.8019G>A (p.Gln2673=)
c.4066-5068G>A (n.4066-5068G>A)
c.1816-5068G>A (n.1816-5068G>A)
c.1977G>A (p.Gln659=)
 dbSNP
1g.197101233T>ACA344014292ASPMn.2108-5069A>T
c.8018A>T (p.Gln2673Leu)
c.4066-5069A>T (n.4066-5069A>T)
c.1816-5069A>T (n.1816-5069A>T)
c.1976A>T (p.Gln659Leu)
1g.197101233T>CCA344014293ASPMn.2108-5069A>G
c.8018A>G (p.Gln2673Arg)
c.4066-5069A>G (n.4066-5069A>G)
c.1816-5069A>G (n.1816-5069A>G)
c.1976A>G (p.Gln659Arg)
1g.197101233T>GCA344014294ASPMn.2108-5069A>C
c.8018A>C (p.Gln2673Pro)
c.4066-5069A>C (n.4066-5069A>C)
c.1816-5069A>C (n.1816-5069A>C)
c.1976A>C (p.Gln659Pro)
1g.197101234G>ACA271112ASPMn.2108-5070C>T
c.8017C>T (p.Gln2673Ter)
c.4066-5070C>T (n.4066-5070C>T)
c.1816-5070C>T (n.1816-5070C>T)
c.1975C>T (p.Gln659Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197101234G>CCA344014295ASPMn.2108-5070C>G
c.8017C>G (p.Gln2673Glu)
c.4066-5070C>G (n.4066-5070C>G)
c.1816-5070C>G (n.1816-5070C>G)
c.1975C>G (p.Gln659Glu)
1g.197101234G=CA1148224841ASPMn.2108-5070C=
c.8017C= (p.Gln2673=)
c.4066-5070C= (n.4066-5070C=)
c.1816-5070C= (n.1816-5070C=)
c.1975C= (p.Gln659=)
1g.197101234G>TCA344014296ASPMn.2108-5070C>A
c.8017C>A (p.Gln2673Lys)
c.4066-5070C>A (n.4066-5070C>A)
c.1816-5070C>A (n.1816-5070C>A)
c.1975C>A (p.Gln659Lys)
 COSMIC
1g.197101235T>ACA422805618ASPMn.2108-5071A>T
c.8016A>T (p.Ile2672=)
c.4066-5071A>T (n.4066-5071A>T)
c.1816-5071A>T (n.1816-5071A>T)
c.1974A>T (p.Ile658=)
1g.197101235T>CCA1309300ASPMn.2108-5071A>G
c.8016A>G (p.Ile2672Met)
c.4066-5071A>G (n.4066-5071A>G)
c.1816-5071A>G (n.1816-5071A>G)
c.1974A>G (p.Ile658Met)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.197101235T>GCA1309299ASPMn.2108-5071A>C
c.8016A>C (p.Ile2672=)
c.4066-5071A>C (n.4066-5071A>C)
c.1816-5071A>C (n.1816-5071A>C)
c.1974A>C (p.Ile658=)
 dbSNP ExAC gnomAD v2
1g.197101235T=CA1217929848ASPMn.2108-5071A=
c.8016A= (p.Ile2672=)
c.4066-5071A= (n.4066-5071A=)
c.1816-5071A= (n.1816-5071A=)
c.1974A= (p.Ile658=)
1g.197101235dupCA528534968ASPMn.2108-5071dup
c.8016dup (p.Gln2673ThrfsTer8)
c.4066-5071dup (n.4066-5071dup)
c.1816-5071dup (n.1816-5071dup)
c.1974dup (p.Gln659ThrfsTer8)
 dbSNP gnomAD v2
1g.197101236A=CA1217929849ASPMn.2108-5072T=
c.8015T= (p.Ile2672=)
c.4066-5072T= (n.4066-5072T=)
c.1816-5072T= (n.1816-5072T=)
c.1973T= (p.Ile658=)
1g.197101236A>CCA344014297ASPMn.2108-5072T>G
c.8015T>G (p.Ile2672Arg)
c.4066-5072T>G (n.4066-5072T>G)
c.1816-5072T>G (n.1816-5072T>G)
c.1973T>G (p.Ile658Arg)
1g.197101236A>GCA344014298ASPMn.2108-5072T>C
c.8015T>C (p.Ile2672Thr)
c.4066-5072T>C (n.4066-5072T>C)
c.1816-5072T>C (n.1816-5072T>C)
c.1973T>C (p.Ile658Thr)
1g.197101236A>TCA344014299ASPMn.2108-5072T>A
c.8015T>A (p.Ile2672Lys)
c.4066-5072T>A (n.4066-5072T>A)
c.1816-5072T>A (n.1816-5072T>A)
c.1973T>A (p.Ile658Lys)
 dbSNP gnomAD v2
1g.197101237T>ACA344014300ASPMn.2108-5073A>T
c.8014A>T (p.Ile2672Leu)
c.4066-5073A>T (n.4066-5073A>T)
c.1816-5073A>T (n.1816-5073A>T)
c.1972A>T (p.Ile658Leu)
1g.197101237T>CCA35870354ASPMn.2108-5073A>G
c.8014A>G (p.Ile2672Val)
c.4066-5073A>G (n.4066-5073A>G)
c.1816-5073A>G (n.1816-5073A>G)
c.1972A>G (p.Ile658Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197101237T>GCA344014301ASPMn.2108-5073A>C
c.8014A>C (p.Ile2672Leu)
c.4066-5073A>C (n.4066-5073A>C)
c.1816-5073A>C (n.1816-5073A>C)
c.1972A>C (p.Ile658Leu)
1g.197101237T=CA1142403432ASPMn.2108-5073A=
c.8014A= (p.Ile2672=)
c.4066-5073A= (n.4066-5073A=)
c.1816-5073A= (n.1816-5073A=)
c.1972A= (p.Ile658=)
1g.197101238A>CCA344014302ASPMn.2108-5074T>G
c.8013T>G (p.Cys2671Trp)
c.4066-5074T>G (n.4066-5074T>G)
c.1816-5074T>G (n.1816-5074T>G)
c.1971T>G (p.Cys657Trp)
1g.197101238A>GCA422805619ASPMn.2108-5074T>C
c.8013T>C (p.Cys2671=)
c.4066-5074T>C (n.4066-5074T>C)
c.1816-5074T>C (n.1816-5074T>C)
c.1971T>C (p.Cys657=)
 COSMIC
1g.197101238A>TCA344014303ASPMn.2108-5074T>A
c.8013T>A (p.Cys2671Ter)
c.4066-5074T>A (n.4066-5074T>A)
c.1816-5074T>A (n.1816-5074T>A)
c.1971T>A (p.Cys657Ter)
1g.197101239_197101242delCA2747239788ASPMn.2108-5077_2108-5074del
c.8010_8013del (p.Cys2671TyrfsTer23)
c.4066-5077_4066-5074del (n.4066-5077_4066-5074del)
c.1816-5077_1816-5074del (n.1816-5077_1816-5074del)
c.1968_1971del (p.Cys657TyrfsTer23)
1g.197101239C>ACA35870356ASPMn.2108-5075G>T
c.8012G>T (p.Cys2671Phe)
c.4066-5075G>T (n.4066-5075G>T)
c.1816-5075G>T (n.1816-5075G>T)
c.1970G>T (p.Cys657Phe)
 dbSNP gnomAD v2
1g.197101239C=CA1143763569ASPMn.2108-5075G=
c.8012G= (p.Cys2671=)
c.4066-5075G= (n.4066-5075G=)
c.1816-5075G= (n.1816-5075G=)
c.1970G= (p.Cys657=)
1g.197101239C>GCA344014305ASPMn.2108-5075G>C
c.8012G>C (p.Cys2671Ser)
c.4066-5075G>C (n.4066-5075G>C)
c.1816-5075G>C (n.1816-5075G>C)
c.1970G>C (p.Cys657Ser)
 gnomAD v4
1g.197101239C>TCA344014304ASPMn.2108-5075G>A
c.8012G>A (p.Cys2671Tyr)
c.4066-5075G>A (n.4066-5075G>A)
c.1816-5075G>A (n.1816-5075G>A)
c.1970G>A (p.Cys657Tyr)
1g.197101240A>CCA344014308ASPMn.2108-5076T>G
c.8011T>G (p.Cys2671Gly)
c.4066-5076T>G (n.4066-5076T>G)
c.1816-5076T>G (n.1816-5076T>G)
c.1969T>G (p.Cys657Gly)
1g.197101240A>GCA344014310ASPMn.2108-5076T>C
c.8011T>C (p.Cys2671Arg)
c.4066-5076T>C (n.4066-5076T>C)
c.1816-5076T>C (n.1816-5076T>C)
c.1969T>C (p.Cys657Arg)
1g.197101240A>TCA344014311ASPMn.2108-5076T>A
c.8011T>A (p.Cys2671Ser)
c.4066-5076T>A (n.4066-5076T>A)
c.1816-5076T>A (n.1816-5076T>A)
c.1969T>A (p.Cys657Ser)
1g.197101241A>CCA344014313ASPMn.2108-5077T>G
c.8010T>G (p.Ile2670Met)
c.4066-5077T>G (n.4066-5077T>G)
c.1816-5077T>G (n.1816-5077T>G)
c.1968T>G (p.Ile656Met)
1g.197101241A>GCA422805620ASPMn.2108-5077T>C
c.8010T>C (p.Ile2670=)
c.4066-5077T>C (n.4066-5077T>C)
c.1816-5077T>C (n.1816-5077T>C)
c.1968T>C (p.Ile656=)
1g.197101241A>TCA422805621ASPMn.2108-5077T>A
c.8010T>A (p.Ile2670=)
c.4066-5077T>A (n.4066-5077T>A)
c.1816-5077T>A (n.1816-5077T>A)
c.1968T>A (p.Ile656=)
1g.197101242A=CA1140612693ASPMn.2108-5078T=
c.8009T= (p.Ile2670=)
c.4066-5078T= (n.4066-5078T=)
c.1816-5078T= (n.1816-5078T=)
c.1967T= (p.Ile656=)
1g.197101242A>CCA344014315ASPMn.2108-5078T>G
c.8009T>G (p.Ile2670Ser)
c.4066-5078T>G (n.4066-5078T>G)
c.1816-5078T>G (n.1816-5078T>G)
c.1967T>G (p.Ile656Ser)
1g.197101242A>GCA271110ASPMn.2108-5078T>C
c.8009T>C (p.Ile2670Thr)
c.4066-5078T>C (n.4066-5078T>C)
c.1816-5078T>C (n.1816-5078T>C)
c.1967T>C (p.Ile656Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197101242A>TCA344014317ASPMn.2108-5078T>A
c.8009T>A (p.Ile2670Asn)
c.4066-5078T>A (n.4066-5078T>A)
c.1816-5078T>A (n.1816-5078T>A)
c.1967T>A (p.Ile656Asn)
1g.197101243T>ACA344014320ASPMn.2108-5079A>T
c.8008A>T (p.Ile2670Phe)
c.4066-5079A>T (n.4066-5079A>T)
c.1816-5079A>T (n.1816-5079A>T)
c.1966A>T (p.Ile656Phe)
1g.197101243T>CCA344014322ASPMn.2108-5079A>G
c.8008A>G (p.Ile2670Val)
c.4066-5079A>G (n.4066-5079A>G)
c.1816-5079A>G (n.1816-5079A>G)
c.1966A>G (p.Ile656Val)
 dbSNP gnomAD v4
1g.197101243T>GCA344014323ASPMn.2108-5079A>C
c.8008A>C (p.Ile2670Leu)
c.4066-5079A>C (n.4066-5079A>C)
c.1816-5079A>C (n.1816-5079A>C)
c.1966A>C (p.Ile656Leu)
1g.197101243T=CA1217929850ASPMn.2108-5079A=
c.8008A= (p.Ile2670=)
c.4066-5079A= (n.4066-5079A=)
c.1816-5079A= (n.1816-5079A=)
c.1966A= (p.Ile656=)
1g.197101244A>CCA422805623ASPMn.2108-5080T>G
c.8007T>G (p.Val2669=)
c.4066-5080T>G (n.4066-5080T>G)
c.1816-5080T>G (n.1816-5080T>G)
c.1965T>G (p.Val655=)
1g.197101244A>GCA422805624ASPMn.2108-5080T>C
c.8007T>C (p.Val2669=)
c.4066-5080T>C (n.4066-5080T>C)
c.1816-5080T>C (n.1816-5080T>C)
c.1965T>C (p.Val655=)
1g.197101244A>TCA422805625ASPMn.2108-5080T>A
c.8007T>A (p.Val2669=)
c.4066-5080T>A (n.4066-5080T>A)
c.1816-5080T>A (n.1816-5080T>A)
c.1965T>A (p.Val655=)
1g.197101244_197101259delinsAACTGCTTGGGTACGCCA1217929851ASPMn.2108-5095_2108-5080delinsGCGTACCCAAGCAGTT
c.7992_8007delinsGCGTACCCAAGCAGTT (p.Val2664=)
c.4066-5095_4066-5080delinsGCGTACCCAAGCAGTT (n.4066-5095_4066-5080delinsGCGTACCCAAGCAGTT)
c.1816-5095_1816-5080delinsGCGTACCCAAGCAGTT (n.1816-5095_1816-5080delinsGCGTACCCAAGCAGTT)
c.1950_1965delinsGCGTACCCAAGCAGTT (p.Val650=)
1g.197101245_197101260delCA2747239789ASPMn.2108-5095_2108-5080del
c.7992_8007del (p.Arg2665PhefsTer25)
c.4066-5095_4066-5080del (n.4066-5095_4066-5080del)
c.1816-5095_1816-5080del (n.1816-5095_1816-5080del)
c.1950_1965del (p.Arg651PhefsTer25)
1g.197101245A=CA1217929852ASPMn.2108-5081T=
c.8006T= (p.Val2669=)
c.4066-5081T= (n.4066-5081T=)
c.1816-5081T= (n.1816-5081T=)
c.1964T= (p.Val655=)
1g.197101245A>CCA344014326ASPMn.2108-5081T>G
c.8006T>G (p.Val2669Gly)
c.4066-5081T>G (n.4066-5081T>G)
c.1816-5081T>G (n.1816-5081T>G)
c.1964T>G (p.Val655Gly)
1g.197101245A>GCA344014327ASPMn.2108-5081T>C
c.8006T>C (p.Val2669Ala)
c.4066-5081T>C (n.4066-5081T>C)
c.1816-5081T>C (n.1816-5081T>C)
c.1964T>C (p.Val655Ala)
1g.197101245A>TCA344014329ASPMn.2108-5081T>A
c.8006T>A (p.Val2669Asp)
c.4066-5081T>A (n.4066-5081T>A)
c.1816-5081T>A (n.1816-5081T>A)
c.1964T>A (p.Val655Asp)
 dbSNP gnomAD v3 gnomAD v4
1g.197101250_197101264delCA528534973ASPMn.2108-5095_2108-5081del
c.7992_8006del (p.Arg2665_Val2669del)
c.4066-5095_4066-5081del (n.4066-5095_4066-5081del)
c.1816-5095_1816-5081del (n.1816-5095_1816-5081del)
c.1950_1964del (p.Arg651_Val655del)
 dbSNP gnomAD v2 gnomAD v4
1g.197101246C>ACA344014332ASPMn.2108-5082G>T
c.8005G>T (p.Val2669Phe)
c.4066-5082G>T (n.4066-5082G>T)
c.1816-5082G>T (n.1816-5082G>T)
c.1963G>T (p.Val655Phe)
1g.197101246C>GCA344014335ASPMn.2108-5082G>C
c.8005G>C (p.Val2669Leu)
c.4066-5082G>C (n.4066-5082G>C)
c.1816-5082G>C (n.1816-5082G>C)
c.1963G>C (p.Val655Leu)
1g.197101246C>TCA344014333ASPMn.2108-5082G>A
c.8005G>A (p.Val2669Ile)
c.4066-5082G>A (n.4066-5082G>A)
c.1816-5082G>A (n.1816-5082G>A)
c.1963G>A (p.Val655Ile)
1g.197101247T>ACA422805629ASPMn.2108-5083A>T
c.8004A>T (p.Ala2668=)
c.4066-5083A>T (n.4066-5083A>T)
c.1816-5083A>T (n.1816-5083A>T)
c.1962A>T (p.Ala654=)
1g.197101247T>CCA422805630ASPMn.2108-5083A>G
c.8004A>G (p.Ala2668=)
c.4066-5083A>G (n.4066-5083A>G)
c.1816-5083A>G (n.1816-5083A>G)
c.1962A>G (p.Ala654=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.197101247T>GCA422805631ASPMn.2108-5083A>C
c.8004A>C (p.Ala2668=)
c.4066-5083A>C (n.4066-5083A>C)
c.1816-5083A>C (n.1816-5083A>C)
c.1962A>C (p.Ala654=)
1g.197101247T=CA1217929853ASPMn.2108-5083A=
c.8004A= (p.Ala2668=)
c.4066-5083A= (n.4066-5083A=)
c.1816-5083A= (n.1816-5083A=)
c.1962A= (p.Ala654=)
1g.197101248G>ACA344014337ASPMn.2108-5084C>T
c.8003C>T (p.Ala2668Val)
c.4066-5084C>T (n.4066-5084C>T)
c.1816-5084C>T (n.1816-5084C>T)
c.1961C>T (p.Ala654Val)
 ClinVar
1g.197101248G>CCA35870361ASPMn.2108-5084C>G
c.8003C>G (p.Ala2668Gly)
c.4066-5084C>G (n.4066-5084C>G)
c.1816-5084C>G (n.1816-5084C>G)
c.1961C>G (p.Ala654Gly)
 dbSNP
1g.197101248G=CA1217929854ASPMn.2108-5084C=
c.8003C= (p.Ala2668=)
c.4066-5084C= (n.4066-5084C=)
c.1816-5084C= (n.1816-5084C=)
c.1961C= (p.Ala654=)
1g.197101248G>TCA344014340ASPMn.2108-5084C>A
c.8003C>A (p.Ala2668Glu)
c.4066-5084C>A (n.4066-5084C>A)
c.1816-5084C>A (n.1816-5084C>A)
c.1961C>A (p.Ala654Glu)
1g.197101249C>ACA344014342ASPMn.2108-5085G>T
c.8002G>T (p.Ala2668Ser)
c.4066-5085G>T (n.4066-5085G>T)
c.1816-5085G>T (n.1816-5085G>T)
c.1960G>T (p.Ala654Ser)
 dbSNP
1g.197101249C=CA1217929855ASPMn.2108-5085G=
c.8002G= (p.Ala2668=)
c.4066-5085G= (n.4066-5085G=)
c.1816-5085G= (n.1816-5085G=)
c.1960G= (p.Ala654=)
1g.197101249C>GCA344014343ASPMn.2108-5085G>C
c.8002G>C (p.Ala2668Pro)
c.4066-5085G>C (n.4066-5085G>C)
c.1816-5085G>C (n.1816-5085G>C)
c.1960G>C (p.Ala654Pro)
1g.197101249C>TCA344014345ASPMn.2108-5085G>A
c.8002G>A (p.Ala2668Thr)
c.4066-5085G>A (n.4066-5085G>A)
c.1816-5085G>A (n.1816-5085G>A)
c.1960G>A (p.Ala654Thr)
 ClinVar
1g.197101250T>ACA344014346ASPMn.2108-5086A>T
c.8001A>T (p.Gln2667His)
c.4066-5086A>T (n.4066-5086A>T)
c.1816-5086A>T (n.1816-5086A>T)
c.1959A>T (p.Gln653His)
1g.197101250T>CCA35870364ASPMn.2108-5086A>G
c.8001A>G (p.Gln2667=)
c.4066-5086A>G (n.4066-5086A>G)
c.1816-5086A>G (n.1816-5086A>G)
c.1959A>G (p.Gln653=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197101250T>GCA344014348ASPMn.2108-5086A>C
c.8001A>C (p.Gln2667His)
c.4066-5086A>C (n.4066-5086A>C)
c.1816-5086A>C (n.1816-5086A>C)
c.1959A>C (p.Gln653His)
1g.197101250T=CA1217929856ASPMn.2108-5086A=
c.8001A= (p.Gln2667=)
c.4066-5086A= (n.4066-5086A=)
c.1816-5086A= (n.1816-5086A=)
c.1959A= (p.Gln653=)
1g.197101251T>ACA344014350ASPMn.2108-5087A>T
c.8000A>T (p.Gln2667Leu)
c.4066-5087A>T (n.4066-5087A>T)
c.1816-5087A>T (n.1816-5087A>T)
c.1958A>T (p.Gln653Leu)
1g.197101251T>CCA344014351ASPMn.2108-5087A>G
c.8000A>G (p.Gln2667Arg)
c.4066-5087A>G (n.4066-5087A>G)
c.1816-5087A>G (n.1816-5087A>G)
c.1958A>G (p.Gln653Arg)
1g.197101251T>GCA344014352ASPMn.2108-5087A>C
c.8000A>C (p.Gln2667Pro)
c.4066-5087A>C (n.4066-5087A>C)
c.1816-5087A>C (n.1816-5087A>C)
c.1958A>C (p.Gln653Pro)
1g.197101252G>ACA344014357ASPMn.2108-5088C>T
c.7999C>T (p.Gln2667Ter)
c.4066-5088C>T (n.4066-5088C>T)
c.1816-5088C>T (n.1816-5088C>T)
c.1957C>T (p.Gln653Ter)
1g.197101252G>CCA1309301ASPMn.2108-5088C>G
c.7999C>G (p.Gln2667Glu)
c.4066-5088C>G (n.4066-5088C>G)
c.1816-5088C>G (n.1816-5088C>G)
c.1957C>G (p.Gln653Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197101252G=CA1217929857ASPMn.2108-5088C=
c.7999C= (p.Gln2667=)
c.4066-5088C= (n.4066-5088C=)
c.1816-5088C= (n.1816-5088C=)
c.1957C= (p.Gln653=)
1g.197101252G>TCA344014355ASPMn.2108-5088C>A
c.7999C>A (p.Gln2667Lys)
c.4066-5088C>A (n.4066-5088C>A)
c.1816-5088C>A (n.1816-5088C>A)
c.1957C>A (p.Gln653Lys)
1g.197101254delCA2649661726ASPMn.2108-5088del
c.7999del (p.Gln2667LysfsTer28)
c.4066-5088del (n.4066-5088del)
c.1816-5088del (n.1816-5088del)
c.1957del (p.Gln653LysfsTer28)
 gnomAD v4
1g.197101253G>ACA35870368ASPMn.2108-5089C>T
c.7998C>T (p.Thr2666=)
c.4066-5089C>T (n.4066-5089C>T)
c.1816-5089C>T (n.1816-5089C>T)
c.1956C>T (p.Thr652=)
 ClinVar dbSNP gnomAD v4
1g.197101253G>CCA422805640ASPMn.2108-5089C>G
c.7998C>G (p.Thr2666=)
c.4066-5089C>G (n.4066-5089C>G)
c.1816-5089C>G (n.1816-5089C>G)
c.1956C>G (p.Thr652=)
1g.197101253G=CA1217929858ASPMn.2108-5089C=
c.7998C= (p.Thr2666=)
c.4066-5089C= (n.4066-5089C=)
c.1816-5089C= (n.1816-5089C=)
c.1956C= (p.Thr652=)
1g.197101253G>TCA422805638ASPMn.2108-5089C>A
c.7998C>A (p.Thr2666=)
c.4066-5089C>A (n.4066-5089C>A)
c.1816-5089C>A (n.1816-5089C>A)
c.1956C>A (p.Thr652=)
1g.197101254G>ACA344014360ASPMn.2108-5090C>T
c.7997C>T (p.Thr2666Ile)
c.4066-5090C>T (n.4066-5090C>T)
c.1816-5090C>T (n.1816-5090C>T)
c.1955C>T (p.Thr652Ile)
 gnomAD v4
1g.197101254G>CCA344014362ASPMn.2108-5090C>G
c.7997C>G (p.Thr2666Ser)
c.4066-5090C>G (n.4066-5090C>G)
c.1816-5090C>G (n.1816-5090C>G)
c.1955C>G (p.Thr652Ser)
1g.197101254G>TCA344014364ASPMn.2108-5090C>A
c.7997C>A (p.Thr2666Asn)
c.4066-5090C>A (n.4066-5090C>A)
c.1816-5090C>A (n.1816-5090C>A)
c.1955C>A (p.Thr652Asn)
1g.197101255T>ACA344014366ASPMn.2108-5091A>T
c.7996A>T (p.Thr2666Ser)
c.4066-5091A>T (n.4066-5091A>T)
c.1816-5091A>T (n.1816-5091A>T)
c.1954A>T (p.Thr652Ser)
1g.197101255T>CCA344014368ASPMn.2108-5091A>G
c.7996A>G (p.Thr2666Ala)
c.4066-5091A>G (n.4066-5091A>G)
c.1816-5091A>G (n.1816-5091A>G)
c.1954A>G (p.Thr652Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197101255T>GCA344014370ASPMn.2108-5091A>C
c.7996A>C (p.Thr2666Pro)
c.4066-5091A>C (n.4066-5091A>C)
c.1816-5091A>C (n.1816-5091A>C)
c.1954A>C (p.Thr652Pro)
1g.197101255T=CA1217929859ASPMn.2108-5091A=
c.7996A= (p.Thr2666=)
c.4066-5091A= (n.4066-5091A=)
c.1816-5091A= (n.1816-5091A=)
c.1954A= (p.Thr652=)
1g.197101256A>CCA422805642ASPMn.2108-5092T>G
c.7995T>G (p.Arg2665=)
c.4066-5092T>G (n.4066-5092T>G)
c.1816-5092T>G (n.1816-5092T>G)
c.1953T>G (p.Arg651=)
1g.197101256A>GCA422805643ASPMn.2108-5092T>C
c.7995T>C (p.Arg2665=)
c.4066-5092T>C (n.4066-5092T>C)
c.1816-5092T>C (n.1816-5092T>C)
c.1953T>C (p.Arg651=)
1g.197101256A>TCA422805644ASPMn.2108-5092T>A
c.7995T>A (p.Arg2665=)
c.4066-5092T>A (n.4066-5092T>A)
c.1816-5092T>A (n.1816-5092T>A)
c.1953T>A (p.Arg651=)
1g.197101257C>ACA344014374ASPMn.2108-5093G>T
c.7994G>T (p.Arg2665Leu)
c.4066-5093G>T (n.4066-5093G>T)
c.1816-5093G>T (n.1816-5093G>T)
c.1952G>T (p.Arg651Leu)
 gnomAD v4
1g.197101257C=CA1217929860ASPMn.2108-5093G=
c.7994G= (p.Arg2665=)
c.4066-5093G= (n.4066-5093G=)
c.1816-5093G= (n.1816-5093G=)
c.1952G= (p.Arg651=)
1g.197101257C>GCA1309303ASPMn.2108-5093G>C
c.7994G>C (p.Arg2665Pro)
c.4066-5093G>C (n.4066-5093G>C)
c.1816-5093G>C (n.1816-5093G>C)
c.1952G>C (p.Arg651Pro)
 dbSNP ExAC gnomAD v2
1g.197101257C>TCA1309302ASPMn.2108-5093G>A
c.7994G>A (p.Arg2665His)
c.4066-5093G>A (n.4066-5093G>A)
c.1816-5093G>A (n.1816-5093G>A)
c.1952G>A (p.Arg651His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197101258G>ACA1309304ASPMn.2108-5094C>T
c.7993C>T (p.Arg2665Cys)
c.4066-5094C>T (n.4066-5094C>T)
c.1816-5094C>T (n.1816-5094C>T)
c.1951C>T (p.Arg651Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197101258G>CCA344014378ASPMn.2108-5094C>G
c.7993C>G (p.Arg2665Gly)
c.4066-5094C>G (n.4066-5094C>G)
c.1816-5094C>G (n.1816-5094C>G)
c.1951C>G (p.Arg651Gly)
1g.197101258G=CA1143511765ASPMn.2108-5094C=
c.7993C= (p.Arg2665=)
c.4066-5094C= (n.4066-5094C=)
c.1816-5094C= (n.1816-5094C=)
c.1951C= (p.Arg651=)
1g.197101258G>TCA344014379ASPMn.2108-5094C>A
c.7993C>A (p.Arg2665Ser)
c.4066-5094C>A (n.4066-5094C>A)
c.1816-5094C>A (n.1816-5094C>A)
c.1951C>A (p.Arg651Ser)
1g.197101259C>ACA422805647ASPMn.2108-5095G>T
c.7992G>T (p.Val2664=)
c.4066-5095G>T (n.4066-5095G>T)
c.1816-5095G>T (n.1816-5095G>T)
c.1950G>T (p.Val650=)
 gnomAD v4
1g.197101259C>GCA422805648ASPMn.2108-5095G>C
c.7992G>C (p.Val2664=)
c.4066-5095G>C (n.4066-5095G>C)
c.1816-5095G>C (n.1816-5095G>C)
c.1950G>C (p.Val650=)
1g.197101259C>TCA422805650ASPMn.2108-5095G>A
c.7992G>A (p.Val2664=)
c.4066-5095G>A (n.4066-5095G>A)
c.1816-5095G>A (n.1816-5095G>A)
c.1950G>A (p.Val650=)
1g.197101260A=CA1217929861ASPMn.2108-5096T=
c.7991T= (p.Val2664=)
c.4066-5096T= (n.4066-5096T=)
c.1816-5096T= (n.1816-5096T=)
c.1949T= (p.Val650=)
1g.197101260A>CCA344014381ASPMn.2108-5096T>G
c.7991T>G (p.Val2664Gly)
c.4066-5096T>G (n.4066-5096T>G)
c.1816-5096T>G (n.1816-5096T>G)
c.1949T>G (p.Val650Gly)
1g.197101260A>GCA344014383ASPMn.2108-5096T>C
c.7991T>C (p.Val2664Ala)
c.4066-5096T>C (n.4066-5096T>C)
c.1816-5096T>C (n.1816-5096T>C)
c.1949T>C (p.Val650Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.197101260A>TCA344014384ASPMn.2108-5096T>A
c.7991T>A (p.Val2664Glu)
c.4066-5096T>A (n.4066-5096T>A)
c.1816-5096T>A (n.1816-5096T>A)
c.1949T>A (p.Val650Glu)
1g.197101261C>ACA344014387ASPMn.2108-5097G>T
c.7990G>T (p.Val2664Leu)
c.4066-5097G>T (n.4066-5097G>T)
c.1816-5097G>T (n.1816-5097G>T)
c.1948G>T (p.Val650Leu)
1g.197101261C=CA1217929862ASPMn.2108-5097G=
c.7990G= (p.Val2664=)
c.4066-5097G= (n.4066-5097G=)
c.1816-5097G= (n.1816-5097G=)
c.1948G= (p.Val650=)
1g.197101261C>GCA344014390ASPMn.2108-5097G>C
c.7990G>C (p.Val2664Leu)
c.4066-5097G>C (n.4066-5097G>C)
c.1816-5097G>C (n.1816-5097G>C)
c.1948G>C (p.Val650Leu)
1g.197101261C>TCA344014388ASPMn.2108-5097G>A
c.7990G>A (p.Val2664Met)
c.4066-5097G>A (n.4066-5097G>A)
c.1816-5097G>A (n.1816-5097G>A)
c.1948G>A (p.Val650Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197101262T>ACA422805652ASPMn.2108-5098A>T
c.7989A>T (p.Ala2663=)
c.4066-5098A>T (n.4066-5098A>T)
c.1816-5098A>T (n.1816-5098A>T)
c.1947A>T (p.Ala649=)
1g.197101262T>CCA422805653ASPMn.2108-5098A>G
c.7989A>G (p.Ala2663=)
c.4066-5098A>G (n.4066-5098A>G)
c.1816-5098A>G (n.1816-5098A>G)
c.1947A>G (p.Ala649=)
1g.197101262T>GCA422805654ASPMn.2108-5098A>C
c.7989A>C (p.Ala2663=)
c.4066-5098A>C (n.4066-5098A>C)
c.1816-5098A>C (n.1816-5098A>C)
c.1947A>C (p.Ala649=)
1g.197101263G>ACA1309305ASPMn.2108-5099C>T
c.7988C>T (p.Ala2663Val)
c.4066-5099C>T (n.4066-5099C>T)
c.1816-5099C>T (n.1816-5099C>T)
c.1946C>T (p.Ala649Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197101263G>CCA344014394ASPMn.2108-5099C>G
c.7988C>G (p.Ala2663Gly)
c.4066-5099C>G (n.4066-5099C>G)
c.1816-5099C>G (n.1816-5099C>G)
c.1946C>G (p.Ala649Gly)
1g.197101263G=CA1217929863ASPMn.2108-5099C=
c.7988C= (p.Ala2663=)
c.4066-5099C= (n.4066-5099C=)
c.1816-5099C= (n.1816-5099C=)
c.1946C= (p.Ala649=)
1g.197101263G>TCA344014395ASPMn.2108-5099C>A
c.7988C>A (p.Ala2663Glu)
c.4066-5099C>A (n.4066-5099C>A)
c.1816-5099C>A (n.1816-5099C>A)
c.1946C>A (p.Ala649Glu)
 dbSNP
1g.197101264C>ACA344014397ASPMn.2108-5100G>T
c.7987G>T (p.Ala2663Ser)
c.4066-5100G>T (n.4066-5100G>T)
c.1816-5100G>T (n.1816-5100G>T)
c.1945G>T (p.Ala649Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.197101264C=CA1217929864ASPMn.2108-5100G=
c.7987G= (p.Ala2663=)
c.4066-5100G= (n.4066-5100G=)
c.1816-5100G= (n.1816-5100G=)
c.1945G= (p.Ala649=)
1g.197101264C>GCA344014399ASPMn.2108-5100G>C
c.7987G>C (p.Ala2663Pro)
c.4066-5100G>C (n.4066-5100G>C)
c.1816-5100G>C (n.1816-5100G>C)
c.1945G>C (p.Ala649Pro)
1g.197101264C>TCA344014401ASPMn.2108-5100G>A
c.7987G>A (p.Ala2663Thr)
c.4066-5100G>A (n.4066-5100G>A)
c.1816-5100G>A (n.1816-5100G>A)
c.1945G>A (p.Ala649Thr)
 COSMIC
1g.197101265A>CCA422805655ASPMn.2108-5101T>G
c.7986T>G (p.Thr2662=)
c.4066-5101T>G (n.4066-5101T>G)
c.1816-5101T>G (n.1816-5101T>G)
c.1944T>G (p.Thr648=)
 COSMIC
1g.197101265A>GCA422805656ASPMn.2108-5101T>C
c.7986T>C (p.Thr2662=)
c.4066-5101T>C (n.4066-5101T>C)
c.1816-5101T>C (n.1816-5101T>C)
c.1944T>C (p.Thr648=)
1g.197101265A>TCA422805657ASPMn.2108-5101T>A
c.7986T>A (p.Thr2662=)
c.4066-5101T>A (n.4066-5101T>A)
c.1816-5101T>A (n.1816-5101T>A)
c.1944T>A (p.Thr648=)
1g.197101266G>ACA344014403ASPMn.2108-5102C>T
c.7985C>T (p.Thr2662Ile)
c.4066-5102C>T (n.4066-5102C>T)
c.1816-5102C>T (n.1816-5102C>T)
c.1943C>T (p.Thr648Ile)
 COSMIC
1g.197101266G>CCA344014405ASPMn.2108-5102C>G
c.7985C>G (p.Thr2662Ser)
c.4066-5102C>G (n.4066-5102C>G)
c.1816-5102C>G (n.1816-5102C>G)
c.1943C>G (p.Thr648Ser)
 dbSNP
1g.197101266G>TCA344014407ASPMn.2108-5102C>A
c.7985C>A (p.Thr2662Asn)
c.4066-5102C>A (n.4066-5102C>A)
c.1816-5102C>A (n.1816-5102C>A)
c.1943C>A (p.Thr648Asn)
1g.197101267T>ACA344014409ASPMn.2108-5103A>T
c.7984A>T (p.Thr2662Ser)
c.4066-5103A>T (n.4066-5103A>T)
c.1816-5103A>T (n.1816-5103A>T)
c.1942A>T (p.Thr648Ser)
1g.197101267T>CCA344014411ASPMn.2108-5103A>G
c.7984A>G (p.Thr2662Ala)
c.4066-5103A>G (n.4066-5103A>G)
c.1816-5103A>G (n.1816-5103A>G)
c.1942A>G (p.Thr648Ala)
 gnomAD v4
1g.197101267T>GCA344014413ASPMn.2108-5103A>C
c.7984A>C (p.Thr2662Pro)
c.4066-5103A>C (n.4066-5103A>C)
c.1816-5103A>C (n.1816-5103A>C)
c.1942A>C (p.Thr648Pro)
1g.197101268T>ACA422805659ASPMn.2108-5104A>T
c.7983A>T (p.Leu2661=)
c.4066-5104A>T (n.4066-5104A>T)
c.1816-5104A>T (n.1816-5104A>T)
c.1941A>T (p.Leu647=)
1g.197101268T>CCA422805660ASPMn.2108-5104A>G
c.7983A>G (p.Leu2661=)
c.4066-5104A>G (n.4066-5104A>G)
c.1816-5104A>G (n.1816-5104A>G)
c.1941A>G (p.Leu647=)
 gnomAD v4
1g.197101268T>GCA422805661ASPMn.2108-5104A>C
c.7983A>C (p.Leu2661=)
c.4066-5104A>C (n.4066-5104A>C)
c.1816-5104A>C (n.1816-5104A>C)
c.1941A>C (p.Leu647=)
 gnomAD v4
1g.197101269A=CA1217929865ASPMn.2108-5105T=
c.7982T= (p.Leu2661=)
c.4066-5105T= (n.4066-5105T=)
c.1816-5105T= (n.1816-5105T=)
c.1940T= (p.Leu647=)
1g.197101269A>CCA241070ASPMn.2108-5105T>G
c.7982T>G (p.Leu2661Arg)
c.4066-5105T>G (n.4066-5105T>G)
c.1816-5105T>G (n.1816-5105T>G)
c.1940T>G (p.Leu647Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.197101269A>GCA344014417ASPMn.2108-5105T>C
c.7982T>C (p.Leu2661Pro)
c.4066-5105T>C (n.4066-5105T>C)
c.1816-5105T>C (n.1816-5105T>C)
c.1940T>C (p.Leu647Pro)
 dbSNP gnomAD v4
1g.197101269A>TCA344014416ASPMn.2108-5105T>A
c.7982T>A (p.Leu2661Gln)
c.4066-5105T>A (n.4066-5105T>A)
c.1816-5105T>A (n.1816-5105T>A)
c.1940T>A (p.Leu647Gln)
1g.197101270G>ACA422805664ASPMn.2108-5106C>T
c.7981C>T (p.Leu2661=)
c.4066-5106C>T (n.4066-5106C>T)
c.1816-5106C>T (n.1816-5106C>T)
c.1939C>T (p.Leu647=)
1g.197101270G>CCA344014419ASPMn.2108-5106C>G
c.7981C>G (p.Leu2661Val)
c.4066-5106C>G (n.4066-5106C>G)
c.1816-5106C>G (n.1816-5106C>G)
c.1939C>G (p.Leu647Val)
1g.197101270G>TCA344014421ASPMn.2108-5106C>A
c.7981C>A (p.Leu2661Ile)
c.4066-5106C>A (n.4066-5106C>A)
c.1816-5106C>A (n.1816-5106C>A)
c.1939C>A (p.Leu647Ile)
1g.197101271T>ACA344014423ASPMn.2108-5107A>T
c.7980A>T (p.Lys2660Asn)
c.4066-5107A>T (n.4066-5107A>T)
c.1816-5107A>T (n.1816-5107A>T)
c.1938A>T (p.Lys646Asn)
1g.197101271T>CCA422805668ASPMn.2108-5107A>G
c.7980A>G (p.Lys2660=)
c.4066-5107A>G (n.4066-5107A>G)
c.1816-5107A>G (n.1816-5107A>G)
c.1938A>G (p.Lys646=)
 dbSNP gnomAD v4
1g.197101271T>GCA344014425ASPMn.2108-5107A>C
c.7980A>C (p.Lys2660Asn)
c.4066-5107A>C (n.4066-5107A>C)
c.1816-5107A>C (n.1816-5107A>C)
c.1938A>C (p.Lys646Asn)
1g.197101271T=CA1217929866ASPMn.2108-5107A=
c.7980A= (p.Lys2660=)
c.4066-5107A= (n.4066-5107A=)
c.1816-5107A= (n.1816-5107A=)
c.1938A= (p.Lys646=)
1g.197101272T>ACA344014428ASPMn.2108-5108A>T
c.7979A>T (p.Lys2660Ile)
c.4066-5108A>T (n.4066-5108A>T)
c.1816-5108A>T (n.1816-5108A>T)
c.1937A>T (p.Lys646Ile)
1g.197101272T>CCA344014430ASPMn.2108-5108A>G
c.7979A>G (p.Lys2660Arg)
c.4066-5108A>G (n.4066-5108A>G)
c.1816-5108A>G (n.1816-5108A>G)
c.1937A>G (p.Lys646Arg)
 gnomAD v4
1g.197101272T>GCA344014431ASPMn.2108-5108A>C
c.7979A>C (p.Lys2660Thr)
c.4066-5108A>C (n.4066-5108A>C)
c.1816-5108A>C (n.1816-5108A>C)
c.1937A>C (p.Lys646Thr)
1g.197101273T>ACA344014432ASPMn.2108-5109A>T
c.7978A>T (p.Lys2660Ter)
c.4066-5109A>T (n.4066-5109A>T)
c.1816-5109A>T (n.1816-5109A>T)
c.1936A>T (p.Lys646Ter)
1g.197101273T>CCA344014434ASPMn.2108-5109A>G
c.7978A>G (p.Lys2660Glu)
c.4066-5109A>G (n.4066-5109A>G)
c.1816-5109A>G (n.1816-5109A>G)
c.1936A>G (p.Lys646Glu)
1g.197101273T>GCA344014436ASPMn.2108-5109A>C
c.7978A>C (p.Lys2660Gln)
c.4066-5109A>C (n.4066-5109A>C)
c.1816-5109A>C (n.1816-5109A>C)
c.1936A>C (p.Lys646Gln)
1g.197101274T>ACA344014437ASPMn.2108-5110A>T
c.7977A>T (p.Arg2659Ser)
c.4066-5110A>T (n.4066-5110A>T)
c.1816-5110A>T (n.1816-5110A>T)
c.1935A>T (p.Arg645Ser)
1g.197101274T>CCA422805673ASPMn.2108-5110A>G
c.7977A>G (p.Arg2659=)
c.4066-5110A>G (n.4066-5110A>G)
c.1816-5110A>G (n.1816-5110A>G)
c.1935A>G (p.Arg645=)
 dbSNP
1g.197101274T>GCA344014439ASPMn.2108-5110A>C
c.7977A>C (p.Arg2659Ser)
c.4066-5110A>C (n.4066-5110A>C)
c.1816-5110A>C (n.1816-5110A>C)
c.1935A>C (p.Arg645Ser)
1g.197101274T=CA1217929867ASPMn.2108-5110A=
c.7977A= (p.Arg2659=)
c.4066-5110A= (n.4066-5110A=)
c.1816-5110A= (n.1816-5110A=)
c.1935A= (p.Arg645=)
1g.197101275C>ACA344014444ASPMn.2108-5111G>T
c.7976G>T (p.Arg2659Ile)
c.4066-5111G>T (n.4066-5111G>T)
c.1816-5111G>T (n.1816-5111G>T)
c.1934G>T (p.Arg645Ile)
1g.197101275C=CA1217929868ASPMn.2108-5111G=
c.7976G= (p.Arg2659=)
c.4066-5111G= (n.4066-5111G=)
c.1816-5111G= (n.1816-5111G=)
c.1934G= (p.Arg645=)
1g.197101275C>GCA344014442ASPMn.2108-5111G>C
c.7976G>C (p.Arg2659Thr)
c.4066-5111G>C (n.4066-5111G>C)
c.1816-5111G>C (n.1816-5111G>C)
c.1934G>C (p.Arg645Thr)
1g.197101275C>TCA10608702ASPMn.2108-5111G>A
c.7976G>A (p.Arg2659Lys)
c.4066-5111G>A (n.4066-5111G>A)
c.1816-5111G>A (n.1816-5111G>A)
c.1934G>A (p.Arg645Lys)
 ClinVar dbSNP gnomAD v4
1g.197101276T>ACA344014446ASPMn.2108-5112A>T
c.7975A>T (p.Arg2659Ter)
c.4066-5112A>T (n.4066-5112A>T)
c.1816-5112A>T (n.1816-5112A>T)
c.1933A>T (p.Arg645Ter)
1g.197101276T>CCA344014448ASPMn.2108-5112A>G
c.7975A>G (p.Arg2659Gly)
c.4066-5112A>G (n.4066-5112A>G)
c.1816-5112A>G (n.1816-5112A>G)
c.1933A>G (p.Arg645Gly)
 dbSNP
1g.197101276T>GCA422805676ASPMn.2108-5112A>C
c.7975A>C (p.Arg2659=)
c.4066-5112A>C (n.4066-5112A>C)
c.1816-5112A>C (n.1816-5112A>C)
c.1933A>C (p.Arg645=)
1g.197101276T=CA1217929869ASPMn.2108-5112A=
c.7975A= (p.Arg2659=)
c.4066-5112A= (n.4066-5112A=)
c.1816-5112A= (n.1816-5112A=)
c.1933A= (p.Arg645=)
1g.197101277G>ACA422805677ASPMn.2108-5113C>T
c.7974C>T (p.Tyr2658=)
c.4066-5113C>T (n.4066-5113C>T)
c.1816-5113C>T (n.1816-5113C>T)
c.1932C>T (p.Tyr644=)
1g.197101277G>CCA344014449ASPMn.2108-5113C>G
c.7974C>G (p.Tyr2658Ter)
c.4066-5113C>G (n.4066-5113C>G)
c.1816-5113C>G (n.1816-5113C>G)
c.1932C>G (p.Tyr644Ter)
 gnomAD v4
1g.197101277G=CA1217929870ASPMn.2108-5113C=
c.7974C= (p.Tyr2658=)
c.4066-5113C= (n.4066-5113C=)
c.1816-5113C= (n.1816-5113C=)
c.1932C= (p.Tyr644=)
1g.197101277G>TCA1309306ASPMn.2108-5113C>A
c.7974C>A (p.Tyr2658Ter)
c.4066-5113C>A (n.4066-5113C>A)
c.1816-5113C>A (n.1816-5113C>A)
c.1932C>A (p.Tyr644Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197101278T>ACA344014452ASPMn.2108-5114A>T
c.7973A>T (p.Tyr2658Phe)
c.4066-5114A>T (n.4066-5114A>T)
c.1816-5114A>T (n.1816-5114A>T)
c.1931A>T (p.Tyr644Phe)
 gnomAD v4
1g.197101278T>CCA344014453ASPMn.2108-5114A>G
c.7973A>G (p.Tyr2658Cys)
c.4066-5114A>G (n.4066-5114A>G)
c.1816-5114A>G (n.1816-5114A>G)
c.1931A>G (p.Tyr644Cys)
 gnomAD v4
1g.197101278T>GCA344014456ASPMn.2108-5114A>C
c.7973A>C (p.Tyr2658Ser)
c.4066-5114A>C (n.4066-5114A>C)
c.1816-5114A>C (n.1816-5114A>C)
c.1931A>C (p.Tyr644Ser)
1g.197101278dupCA528534978ASPMn.2108-5114dup
c.7973dup (p.Tyr2658Ter)
c.4066-5114dup (n.4066-5114dup)
c.1816-5114dup (n.1816-5114dup)
c.1931dup (p.Tyr644Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197101279A>CCA344014458ASPMn.2108-5115T>G
c.7972T>G (p.Tyr2658Asp)
c.4066-5115T>G (n.4066-5115T>G)
c.1816-5115T>G (n.1816-5115T>G)
c.1930T>G (p.Tyr644Asp)
1g.197101279A>GCA344014460ASPMn.2108-5115T>C
c.7972T>C (p.Tyr2658His)
c.4066-5115T>C (n.4066-5115T>C)
c.1816-5115T>C (n.1816-5115T>C)
c.1930T>C (p.Tyr644His)
1g.197101279A>TCA344014462ASPMn.2108-5115T>A
c.7972T>A (p.Tyr2658Asn)
c.4066-5115T>A (n.4066-5115T>A)
c.1816-5115T>A (n.1816-5115T>A)
c.1930T>A (p.Tyr644Asn)
1g.197101279_197101282delinsATCTCA1217929871ASPMn.2108-5118_2108-5115delinsAGAT
c.7969_7972delinsAGAT (p.Arg2657=)
c.4066-5118_4066-5115delinsAGAT (n.4066-5118_4066-5115delinsAGAT)
c.1816-5118_1816-5115delinsAGAT (n.1816-5118_1816-5115delinsAGAT)
c.1927_1930delinsAGAT (p.Arg643=)
1g.197101280T>ACA1309308ASPMn.2108-5116A>T
c.7971A>T (p.Arg2657Ser)
c.4066-5116A>T (n.4066-5116A>T)
c.1816-5116A>T (n.1816-5116A>T)
c.1929A>T (p.Arg643Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197101280T>CCA422805681ASPMn.2108-5116A>G
c.7971A>G (p.Arg2657=)
c.4066-5116A>G (n.4066-5116A>G)
c.1816-5116A>G (n.1816-5116A>G)
c.1929A>G (p.Arg643=)
 gnomAD v4
1g.197101280T>GCA344014464ASPMn.2108-5116A>C
c.7971A>C (p.Arg2657Ser)
c.4066-5116A>C (n.4066-5116A>C)
c.1816-5116A>C (n.1816-5116A>C)
c.1929A>C (p.Arg643Ser)
1g.197101280T=CA1217929872ASPMn.2108-5116A=
c.7971A= (p.Arg2657=)
c.4066-5116A= (n.4066-5116A=)
c.1816-5116A= (n.1816-5116A=)
c.1929A= (p.Arg643=)
1g.197101284_197101286delCA1309307ASPMn.2108-5118_2108-5116del
c.7969_7971del (p.Arg2657del)
c.4066-5118_4066-5116del (n.4066-5118_4066-5116del)
c.1816-5118_1816-5116del (n.1816-5118_1816-5116del)
c.1927_1929del (p.Arg643del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197101281C>ACA344014468ASPMn.2108-5117G>T
c.7970G>T (p.Arg2657Ile)
c.4066-5117G>T (n.4066-5117G>T)
c.1816-5117G>T (n.1816-5117G>T)
c.1928G>T (p.Arg643Ile)
1g.197101281C=CA1148456410ASPMn.2108-5117G=
c.7970G= (p.Arg2657=)
c.4066-5117G= (n.4066-5117G=)
c.1816-5117G= (n.1816-5117G=)
c.1928G= (p.Arg643=)
1g.197101281C>GCA1309309ASPMn.2108-5117G>C
c.7970G>C (p.Arg2657Thr)
c.4066-5117G>C (n.4066-5117G>C)
c.1816-5117G>C (n.1816-5117G>C)
c.1928G>C (p.Arg643Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197101281C>TCA344014467ASPMn.2108-5117G>A
c.7970G>A (p.Arg2657Lys)
c.4066-5117G>A (n.4066-5117G>A)
c.1816-5117G>A (n.1816-5117G>A)
c.1928G>A (p.Arg643Lys)
 gnomAD v4
1g.197101282T>ACA344014473ASPMn.2108-5118A>T
c.7969A>T (p.Arg2657Ter)
c.4066-5118A>T (n.4066-5118A>T)
c.1816-5118A>T (n.1816-5118A>T)
c.1927A>T (p.Arg643Ter)
1g.197101282T>CCA344014471ASPMn.2108-5118A>G
c.7969A>G (p.Arg2657Gly)
c.4066-5118A>G (n.4066-5118A>G)
c.1816-5118A>G (n.1816-5118A>G)
c.1927A>G (p.Arg643Gly)
1g.197101282T>GCA422805682ASPMn.2108-5118A>C
c.7969A>C (p.Arg2657=)
c.4066-5118A>C (n.4066-5118A>C)
c.1816-5118A>C (n.1816-5118A>C)
c.1927A>C (p.Arg643=)
1g.197101283T>ACA344014477ASPMn.2108-5119A>T
c.7968A>T (p.Arg2656Ser)
c.4066-5119A>T (n.4066-5119A>T)
c.1816-5119A>T (n.1816-5119A>T)
c.1926A>T (p.Arg642Ser)
1g.197101283T>CCA422805685ASPMn.2108-5119A>G
c.7968A>G (p.Arg2656=)
c.4066-5119A>G (n.4066-5119A>G)
c.1816-5119A>G (n.1816-5119A>G)
c.1926A>G (p.Arg642=)
1g.197101283T>GCA344014475ASPMn.2108-5119A>C
c.7968A>C (p.Arg2656Ser)
c.4066-5119A>C (n.4066-5119A>C)
c.1816-5119A>C (n.1816-5119A>C)
c.1926A>C (p.Arg642Ser)
1g.197101284C>ACA344014481ASPMn.2108-5120G>T
c.7967G>T (p.Arg2656Ile)
c.4066-5120G>T (n.4066-5120G>T)
c.1816-5120G>T (n.1816-5120G>T)
c.1925G>T (p.Arg642Ile)
1g.197101284C>GCA344014479ASPMn.2108-5120G>C
c.7967G>C (p.Arg2656Thr)
c.4066-5120G>C (n.4066-5120G>C)
c.1816-5120G>C (n.1816-5120G>C)
c.1925G>C (p.Arg642Thr)
1g.197101284C>TCA344014482ASPMn.2108-5120G>A
c.7967G>A (p.Arg2656Lys)
c.4066-5120G>A (n.4066-5120G>A)
c.1816-5120G>A (n.1816-5120G>A)
c.1925G>A (p.Arg642Lys)
1g.197101285T>ACA344014484ASPMn.2108-5121A>T
c.7966A>T (p.Arg2656Ter)
c.4066-5121A>T (n.4066-5121A>T)
c.1816-5121A>T (n.1816-5121A>T)
c.1924A>T (p.Arg642Ter)
1g.197101285T>CCA344014486ASPMn.2108-5121A>G
c.7966A>G (p.Arg2656Gly)
c.4066-5121A>G (n.4066-5121A>G)
c.1816-5121A>G (n.1816-5121A>G)
c.1924A>G (p.Arg642Gly)
1g.197101285T>GCA422805687ASPMn.2108-5121A>C
c.7966A>C (p.Arg2656=)
c.4066-5121A>C (n.4066-5121A>C)
c.1816-5121A>C (n.1816-5121A>C)
c.1924A>C (p.Arg642=)
 dbSNP gnomAD v2
1g.197101285T=CA1217929873ASPMn.2108-5121A=
c.7966A= (p.Arg2656=)
c.4066-5121A= (n.4066-5121A=)
c.1816-5121A= (n.1816-5121A=)
c.1924A= (p.Arg642=)
1g.197101286T>ACA344014487ASPMn.2108-5122A>T
c.7965A>T (p.Gln2655His)
c.4066-5122A>T (n.4066-5122A>T)
c.1816-5122A>T (n.1816-5122A>T)
c.1923A>T (p.Gln641His)
1g.197101286T>CCA422805688ASPMn.2108-5122A>G
c.7965A>G (p.Gln2655=)
c.4066-5122A>G (n.4066-5122A>G)
c.1816-5122A>G (n.1816-5122A>G)
c.1923A>G (p.Gln641=)
1g.197101286T>GCA344014488ASPMn.2108-5122A>C
c.7965A>C (p.Gln2655His)
c.4066-5122A>C (n.4066-5122A>C)
c.1816-5122A>C (n.1816-5122A>C)
c.1923A>C (p.Gln641His)
1g.197101287T>ACA344014491ASPMn.2108-5123A>T
c.7964A>T (p.Gln2655Leu)
c.4066-5123A>T (n.4066-5123A>T)
c.1816-5123A>T (n.1816-5123A>T)
c.1922A>T (p.Gln641Leu)
 dbSNP gnomAD v4
1g.197101287T>CCA344014492ASPMn.2108-5123A>G
c.7964A>G (p.Gln2655Arg)
c.4066-5123A>G (n.4066-5123A>G)
c.1816-5123A>G (n.1816-5123A>G)
c.1922A>G (p.Gln641Arg)
1g.197101287T>GCA344014494ASPMn.2108-5123A>C
c.7964A>C (p.Gln2655Pro)
c.4066-5123A>C (n.4066-5123A>C)
c.1816-5123A>C (n.1816-5123A>C)
c.1922A>C (p.Gln641Pro)
1g.197101287T=CA1217929874ASPMn.2108-5123A=
c.7964A= (p.Gln2655=)
c.4066-5123A= (n.4066-5123A=)
c.1816-5123A= (n.1816-5123A=)
c.1922A= (p.Gln641=)
1g.197101288G>ACA344014497ASPMn.2108-5124C>T
c.7963C>T (p.Gln2655Ter)
c.4066-5124C>T (n.4066-5124C>T)
c.1816-5124C>T (n.1816-5124C>T)
c.1921C>T (p.Gln641Ter)
1g.197101288G>CCA344014500ASPMn.2108-5124C>G
c.7963C>G (p.Gln2655Glu)
c.4066-5124C>G (n.4066-5124C>G)
c.1816-5124C>G (n.1816-5124C>G)
c.1921C>G (p.Gln641Glu)
1g.197101288G>TCA344014498ASPMn.2108-5124C>A
c.7963C>A (p.Gln2655Lys)
c.4066-5124C>A (n.4066-5124C>A)
c.1816-5124C>A (n.1816-5124C>A)
c.1921C>A (p.Gln641Lys)
1g.197101289A>CCA344014502ASPMn.2108-5125T>G
c.7962T>G (p.Ile2654Met)
c.4066-5125T>G (n.4066-5125T>G)
c.1816-5125T>G (n.1816-5125T>G)
c.1920T>G (p.Ile640Met)
1g.197101289A>GCA422805690ASPMn.2108-5125T>C
c.7962T>C (p.Ile2654=)
c.4066-5125T>C (n.4066-5125T>C)
c.1816-5125T>C (n.1816-5125T>C)
c.1920T>C (p.Ile640=)
 gnomAD v4
1g.197101289A>TCA422805689ASPMn.2108-5125T>A
c.7962T>A (p.Ile2654=)
c.4066-5125T>A (n.4066-5125T>A)
c.1816-5125T>A (n.1816-5125T>A)
c.1920T>A (p.Ile640=)
1g.197101290A=CA1217929875ASPMn.2108-5126T=
c.7961T= (p.Ile2654=)
c.4066-5126T= (n.4066-5126T=)
c.1816-5126T= (n.1816-5126T=)
c.1919T= (p.Ile640=)
1g.197101290A>CCA344014503ASPMn.2108-5126T>G
c.7961T>G (p.Ile2654Ser)
c.4066-5126T>G (n.4066-5126T>G)
c.1816-5126T>G (n.1816-5126T>G)
c.1919T>G (p.Ile640Ser)
1g.197101290A>GCA344014505ASPMn.2108-5126T>C
c.7961T>C (p.Ile2654Thr)
c.4066-5126T>C (n.4066-5126T>C)
c.1816-5126T>C (n.1816-5126T>C)
c.1919T>C (p.Ile640Thr)
1g.197101290A>TCA344014507ASPMn.2108-5126T>A
c.7961T>A (p.Ile2654Asn)
c.4066-5126T>A (n.4066-5126T>A)
c.1816-5126T>A (n.1816-5126T>A)
c.1919T>A (p.Ile640Asn)
 dbSNP
1g.197101291T>ACA344014512ASPMn.2108-5127A>T
c.7960A>T (p.Ile2654Phe)
c.4066-5127A>T (n.4066-5127A>T)
c.1816-5127A>T (n.1816-5127A>T)
c.1918A>T (p.Ile640Phe)
1g.197101291T>CCA344014509ASPMn.2108-5127A>G
c.7960A>G (p.Ile2654Val)
c.4066-5127A>G (n.4066-5127A>G)
c.1816-5127A>G (n.1816-5127A>G)
c.1918A>G (p.Ile640Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197101291T>GCA344014510ASPMn.2108-5127A>C
c.7960A>C (p.Ile2654Leu)
c.4066-5127A>C (n.4066-5127A>C)
c.1816-5127A>C (n.1816-5127A>C)
c.1918A>C (p.Ile640Leu)
 dbSNP
1g.197101291T=CA1217929876ASPMn.2108-5127A=
c.7960A= (p.Ile2654=)
c.4066-5127A= (n.4066-5127A=)
c.1816-5127A= (n.1816-5127A=)
c.1918A= (p.Ile640=)
1g.197101292A=CA1217929877ASPMn.2108-5128T=
c.7959T= (p.Ser2653=)
c.4066-5128T= (n.4066-5128T=)
c.1816-5128T= (n.1816-5128T=)
c.1917T= (p.Ser639=)
1g.197101292A>CCA422805691ASPMn.2108-5128T>G
c.7959T>G (p.Ser2653=)
c.4066-5128T>G (n.4066-5128T>G)
c.1816-5128T>G (n.1816-5128T>G)
c.1917T>G (p.Ser639=)
1g.197101292A>GCA422805692ASPMn.2108-5128T>C
c.7959T>C (p.Ser2653=)
c.4066-5128T>C (n.4066-5128T>C)
c.1816-5128T>C (n.1816-5128T>C)
c.1917T>C (p.Ser639=)
 dbSNP gnomAD v4
1g.197101292A>TCA422805693ASPMn.2108-5128T>A
c.7959T>A (p.Ser2653=)
c.4066-5128T>A (n.4066-5128T>A)
c.1816-5128T>A (n.1816-5128T>A)
c.1917T>A (p.Ser639=)
1g.197101293G>ACA344014514ASPMn.2108-5129C>T
c.7958C>T (p.Ser2653Phe)
c.4066-5129C>T (n.4066-5129C>T)
c.1816-5129C>T (n.1816-5129C>T)
c.1916C>T (p.Ser639Phe)
 dbSNP
1g.197101293G>CCA344014515ASPMn.2108-5129C>G
c.7958C>G (p.Ser2653Cys)
c.4066-5129C>G (n.4066-5129C>G)
c.1816-5129C>G (n.1816-5129C>G)
c.1916C>G (p.Ser639Cys)
 gnomAD v4 COSMIC
1g.197101293G=CA1217929878ASPMn.2108-5129C=
c.7958C= (p.Ser2653=)
c.4066-5129C= (n.4066-5129C=)
c.1816-5129C= (n.1816-5129C=)
c.1916C= (p.Ser639=)
1g.197101293G>TCA344014517ASPMn.2108-5129C>A
c.7958C>A (p.Ser2653Tyr)
c.4066-5129C>A (n.4066-5129C>A)
c.1816-5129C>A (n.1816-5129C>A)
c.1916C>A (p.Ser639Tyr)
1g.197101294A>CCA344014519ASPMn.2108-5130T>G
c.7957T>G (p.Ser2653Ala)
c.4066-5130T>G (n.4066-5130T>G)
c.1816-5130T>G (n.1816-5130T>G)
c.1915T>G (p.Ser639Ala)
1g.197101294A>GCA344014520ASPMn.2108-5130T>C
c.7957T>C (p.Ser2653Pro)
c.4066-5130T>C (n.4066-5130T>C)
c.1816-5130T>C (n.1816-5130T>C)
c.1915T>C (p.Ser639Pro)
1g.197101294A>TCA344014521ASPMn.2108-5130T>A
c.7957T>A (p.Ser2653Thr)
c.4066-5130T>A (n.4066-5130T>A)
c.1816-5130T>A (n.1816-5130T>A)
c.1915T>A (p.Ser639Thr)
1g.197101295A=CA1217929879ASPMn.2108-5131T=
c.7956T= (p.Val2652=)
c.4066-5131T= (n.4066-5131T=)
c.1816-5131T= (n.1816-5131T=)
c.1914T= (p.Val638=)
1g.197101295A>CCA422805696ASPMn.2108-5131T>G
c.7956T>G (p.Val2652=)
c.4066-5131T>G (n.4066-5131T>G)
c.1816-5131T>G (n.1816-5131T>G)
c.1914T>G (p.Val638=)
1g.197101295A>GCA422805697ASPMn.2108-5131T>C
c.7956T>C (p.Val2652=)
c.4066-5131T>C (n.4066-5131T>C)
c.1816-5131T>C (n.1816-5131T>C)
c.1914T>C (p.Val638=)
 dbSNP
1g.197101295A>TCA422805698ASPMn.2108-5131T>A
c.7956T>A (p.Val2652=)
c.4066-5131T>A (n.4066-5131T>A)
c.1816-5131T>A (n.1816-5131T>A)
c.1914T>A (p.Val638=)
1g.197101296A>CCA344014524ASPMn.2108-5132T>G
c.7955T>G (p.Val2652Gly)
c.4066-5132T>G (n.4066-5132T>G)
c.1816-5132T>G (n.1816-5132T>G)
c.1913T>G (p.Val638Gly)
1g.197101296A>GCA344014525ASPMn.2108-5132T>C
c.7955T>C (p.Val2652Ala)
c.4066-5132T>C (n.4066-5132T>C)
c.1816-5132T>C (n.1816-5132T>C)
c.1913T>C (p.Val638Ala)
1g.197101296A>TCA344014527ASPMn.2108-5132T>A
c.7955T>A (p.Val2652Asp)
c.4066-5132T>A (n.4066-5132T>A)
c.1816-5132T>A (n.1816-5132T>A)
c.1913T>A (p.Val638Asp)
1g.197101297C>ACA344014530ASPMn.2108-5133G>T
c.7954G>T (p.Val2652Phe)
c.4066-5133G>T (n.4066-5133G>T)
c.1816-5133G>T (n.1816-5133G>T)
c.1912G>T (p.Val638Phe)
 gnomAD v4
1g.197101297C>GCA344014531ASPMn.2108-5133G>C
c.7954G>C (p.Val2652Leu)
c.4066-5133G>C (n.4066-5133G>C)
c.1816-5133G>C (n.1816-5133G>C)
c.1912G>C (p.Val638Leu)
1g.197101297C>TCA344014533ASPMn.2108-5133G>A
c.7954G>A (p.Val2652Ile)
c.4066-5133G>A (n.4066-5133G>A)
c.1816-5133G>A (n.1816-5133G>A)
c.1912G>A (p.Val638Ile)

Number of alleles fetched