Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.23337423_23337428delinsTAACTGCA2078627582SACSc.6448_6453delinsCAGTTA (p.Gln2150=)
c.2186-7944_2186-7939delinsCAGTTA (p.=)
c.2431+4017_2431+4022delinsCAGTTA (p.=)
c.4198_4203delinsCAGTTA (p.Gln1400=)
n.1058-7944_1058-7939delinsCAGTTA (p.=)
n.2129+4017_2129+4022delinsCAGTTA
c.6007_6012delinsCAGTTA (p.Gln2003=)
c.6475_6480delinsCAGTTA (p.Gln2159=)
c.6499_6504delinsCAGTTA (p.Gln2167=)
c.6466_6471delinsCAGTTA (p.Gln2156=)
c.6439_6444delinsCAGTTA (p.Gln2147=)
13g.23337428_23337432delCA16041626SACSc.6448_6452del (p.Gln2150ArgfsTer6)
c.2186-7944_2186-7940del (p.=)
c.2431+4017_2431+4021del (p.=)
c.4198_4202del (p.Gln1400ArgfsTer6)
n.1058-7944_1058-7940del (p.=)
n.2129+4017_2129+4021del
c.6007_6011del (p.Gln2003ArgfsTer6)
c.6475_6479del (p.Gln2159ArgfsTer6)
c.6499_6503del (p.Gln2167ArgfsTer6)
c.6466_6470del (p.Gln2156ArgfsTer6)
c.6439_6443del (p.Gln2147ArgfsTer6)
ClinVar dbSNP gnomAD
13g.23337428G>ACA387521796SACSc.6448C>T (p.Gln2150Ter)
c.2186-7944C>T (p.=)
c.2431+4017C>T (p.=)
c.4198C>T (p.Gln1400Ter)
n.1058-7944C>T (p.=)
n.2129+4017C>T
c.6007C>T (p.Gln2003Ter)
c.6475C>T (p.Gln2159Ter)
c.6499C>T (p.Gln2167Ter)
c.6466C>T (p.Gln2156Ter)
c.6439C>T (p.Gln2147Ter)
13g.23337428G>CCA387521798SACSc.6448C>G (p.Gln2150Glu)
c.2186-7944C>G (p.=)
c.2431+4017C>G (p.=)
c.4198C>G (p.Gln1400Glu)
n.1058-7944C>G (p.=)
n.2129+4017C>G
c.6007C>G (p.Gln2003Glu)
c.6475C>G (p.Gln2159Glu)
c.6499C>G (p.Gln2167Glu)
c.6466C>G (p.Gln2156Glu)
c.6439C>G (p.Gln2147Glu)
13g.23337428G>TCA387521800SACSc.6448C>A (p.Gln2150Lys)
c.2186-7944C>A (p.=)
c.2431+4017C>A (p.=)
c.4198C>A (p.Gln1400Lys)
n.1058-7944C>A (p.=)
n.2129+4017C>A
c.6007C>A (p.Gln2003Lys)
c.6475C>A (p.Gln2159Lys)
c.6499C>A (p.Gln2167Lys)
c.6466C>A (p.Gln2156Lys)
c.6439C>A (p.Gln2147Lys)
13g.23337429A=CA2078627592SACSc.6447T= (p.Val2149=)
c.2186-7945T= (p.=)
c.2431+4016T= (p.=)
c.4197T= (p.Val1399=)
n.1058-7945T= (p.=)
n.2129+4016T=
c.6006T= (p.Val2002=)
c.6474T= (p.Val2158=)
c.6498T= (p.Val2166=)
c.6465T= (p.Val2155=)
c.6438T= (p.Val2146=)
13g.23337429A>CCA483161532SACSc.6447T>G (p.Val2149=)
c.2186-7945T>G (p.=)
c.2431+4016T>G (p.=)
c.4197T>G (p.Val1399=)
n.1058-7945T>G (p.=)
n.2129+4016T>G
c.6006T>G (p.Val2002=)
c.6474T>G (p.Val2158=)
c.6498T>G (p.Val2166=)
c.6465T>G (p.Val2155=)
c.6438T>G (p.Val2146=)
13g.23337429A>GCA6911080SACSc.6447T>C (p.Val2149=)
c.2186-7945T>C (p.=)
c.2431+4016T>C (p.=)
c.4197T>C (p.Val1399=)
n.1058-7945T>C (p.=)
n.2129+4016T>C
c.6006T>C (p.Val2002=)
c.6474T>C (p.Val2158=)
c.6498T>C (p.Val2166=)
c.6465T>C (p.Val2155=)
c.6438T>C (p.Val2146=)
ClinVar dbSNP ExAC gnomAD
13g.23337429A>TCA483161533SACSc.6447T>A (p.Val2149=)
c.2186-7945T>A (p.=)
c.2431+4016T>A (p.=)
c.4197T>A (p.Val1399=)
n.1058-7945T>A (p.=)
n.2129+4016T>A
c.6006T>A (p.Val2002=)
c.6474T>A (p.Val2158=)
c.6498T>A (p.Val2166=)
c.6465T>A (p.Val2155=)
c.6438T>A (p.Val2146=)
13g.23337430A>CCA387521803SACSc.6446T>G (p.Val2149Gly)
c.2186-7946T>G (p.=)
c.2431+4015T>G (p.=)
c.4196T>G (p.Val1399Gly)
n.1058-7946T>G (p.=)
n.2129+4015T>G
c.6005T>G (p.Val2002Gly)
c.6473T>G (p.Val2158Gly)
c.6497T>G (p.Val2166Gly)
c.6464T>G (p.Val2155Gly)
c.6437T>G (p.Val2146Gly)
13g.23337430A>GCA387521805SACSc.6446T>C (p.Val2149Ala)
c.2186-7946T>C (p.=)
c.2431+4015T>C (p.=)
c.4196T>C (p.Val1399Ala)
n.1058-7946T>C (p.=)
n.2129+4015T>C
c.6005T>C (p.Val2002Ala)
c.6473T>C (p.Val2158Ala)
c.6497T>C (p.Val2166Ala)
c.6464T>C (p.Val2155Ala)
c.6437T>C (p.Val2146Ala)
13g.23337430A>TCA387521807SACSc.6446T>A (p.Val2149Asp)
c.2186-7946T>A (p.=)
c.2431+4015T>A (p.=)
c.4196T>A (p.Val1399Asp)
n.1058-7946T>A (p.=)
n.2129+4015T>A
c.6005T>A (p.Val2002Asp)
c.6473T>A (p.Val2158Asp)
c.6497T>A (p.Val2166Asp)
c.6464T>A (p.Val2155Asp)
c.6437T>A (p.Val2146Asp)
13g.23337431C>ACA387521811SACSc.6445G>T (p.Val2149Phe)
c.2186-7947G>T (p.=)
c.2431+4014G>T (p.=)
c.4195G>T (p.Val1399Phe)
n.1058-7947G>T (p.=)
n.2129+4014G>T
c.6004G>T (p.Val2002Phe)
c.6472G>T (p.Val2158Phe)
c.6496G>T (p.Val2166Phe)
c.6463G>T (p.Val2155Phe)
c.6436G>T (p.Val2146Phe)
13g.23337431C=CA2078627597SACSc.6445G= (p.Val2149=)
c.2186-7947G= (p.=)
c.2431+4014G= (p.=)
c.4195G= (p.Val1399=)
n.1058-7947G= (p.=)
n.2129+4014G=
c.6004G= (p.Val2002=)
c.6472G= (p.Val2158=)
c.6496G= (p.Val2166=)
c.6463G= (p.Val2155=)
c.6436G= (p.Val2146=)
13g.23337431C>GCA387521809SACSc.6445G>C (p.Val2149Leu)
c.2186-7947G>C (p.=)
c.2431+4014G>C (p.=)
c.4195G>C (p.Val1399Leu)
n.1058-7947G>C (p.=)
n.2129+4014G>C
c.6004G>C (p.Val2002Leu)
c.6472G>C (p.Val2158Leu)
c.6496G>C (p.Val2166Leu)
c.6463G>C (p.Val2155Leu)
c.6436G>C (p.Val2146Leu)
13g.23337431C>TCA6911081SACSc.6445G>A (p.Val2149Ile)
c.2186-7947G>A (p.=)
c.2431+4014G>A (p.=)
c.4195G>A (p.Val1399Ile)
n.1058-7947G>A (p.=)
n.2129+4014G>A
c.6004G>A (p.Val2002Ile)
c.6472G>A (p.Val2158Ile)
c.6496G>A (p.Val2166Ile)
c.6463G>A (p.Val2155Ile)
c.6436G>A (p.Val2146Ile)
dbSNP ExAC gnomAD
13g.23337432T>ACA483161543SACSc.6444A>T (p.Leu2148=)
c.2186-7948A>T (p.=)
c.2431+4013A>T (p.=)
c.4194A>T (p.Leu1398=)
n.1058-7948A>T (p.=)
n.2129+4013A>T
c.6003A>T (p.Leu2001=)
c.6471A>T (p.Leu2157=)
c.6495A>T (p.Leu2165=)
c.6462A>T (p.Leu2154=)
c.6435A>T (p.Leu2145=)
13g.23337432T>CCA483161545SACSc.6444A>G (p.Leu2148=)
c.2186-7948A>G (p.=)
c.2431+4013A>G (p.=)
c.4194A>G (p.Leu1398=)
n.1058-7948A>G (p.=)
n.2129+4013A>G
c.6003A>G (p.Leu2001=)
c.6471A>G (p.Leu2157=)
c.6495A>G (p.Leu2165=)
c.6462A>G (p.Leu2154=)
c.6435A>G (p.Leu2145=)
13g.23337432T>GCA483161544SACSc.6444A>C (p.Leu2148=)
c.2186-7948A>C (p.=)
c.2431+4013A>C (p.=)
c.4194A>C (p.Leu1398=)
n.1058-7948A>C (p.=)
n.2129+4013A>C
c.6003A>C (p.Leu2001=)
c.6471A>C (p.Leu2157=)
c.6495A>C (p.Leu2165=)
c.6462A>C (p.Leu2154=)
c.6435A>C (p.Leu2145=)
13g.23337433A>CCA387521814SACSc.6443T>G (p.Leu2148Arg)
c.2186-7949T>G (p.=)
c.2431+4012T>G (p.=)
c.4193T>G (p.Leu1398Arg)
n.1058-7949T>G (p.=)
n.2129+4012T>G
c.6002T>G (p.Leu2001Arg)
c.6470T>G (p.Leu2157Arg)
c.6494T>G (p.Leu2165Arg)
c.6461T>G (p.Leu2154Arg)
c.6434T>G (p.Leu2145Arg)
13g.23337433A>GCA387521816SACSc.6443T>C (p.Leu2148Pro)
c.2186-7949T>C (p.=)
c.2431+4012T>C (p.=)
c.4193T>C (p.Leu1398Pro)
n.1058-7949T>C (p.=)
n.2129+4012T>C
c.6002T>C (p.Leu2001Pro)
c.6470T>C (p.Leu2157Pro)
c.6494T>C (p.Leu2165Pro)
c.6461T>C (p.Leu2154Pro)
c.6434T>C (p.Leu2145Pro)
13g.23337433A>TCA387521817SACSc.6443T>A (p.Leu2148Gln)
c.2186-7949T>A (p.=)
c.2431+4012T>A (p.=)
c.4193T>A (p.Leu1398Gln)
n.1058-7949T>A (p.=)
n.2129+4012T>A
c.6002T>A (p.Leu2001Gln)
c.6470T>A (p.Leu2157Gln)
c.6494T>A (p.Leu2165Gln)
c.6461T>A (p.Leu2154Gln)
c.6434T>A (p.Leu2145Gln)
13g.23337434G>ACA483161549SACSc.6442C>T (p.Leu2148=)
c.2186-7950C>T (p.=)
c.2431+4011C>T (p.=)
c.4192C>T (p.Leu1398=)
n.1058-7950C>T (p.=)
n.2129+4011C>T
c.6001C>T (p.Leu2001=)
c.6469C>T (p.Leu2157=)
c.6493C>T (p.Leu2165=)
c.6460C>T (p.Leu2154=)
c.6433C>T (p.Leu2145=)
13g.23337434G>CCA387521819SACSc.6442C>G (p.Leu2148Val)
c.2186-7950C>G (p.=)
c.2431+4011C>G (p.=)
c.4192C>G (p.Leu1398Val)
n.1058-7950C>G (p.=)
n.2129+4011C>G
c.6001C>G (p.Leu2001Val)
c.6469C>G (p.Leu2157Val)
c.6493C>G (p.Leu2165Val)
c.6460C>G (p.Leu2154Val)
c.6433C>G (p.Leu2145Val)
13g.23337434G>TCA387521822SACSc.6442C>A (p.Leu2148Ile)
c.2186-7950C>A (p.=)
c.2431+4011C>A (p.=)
c.4192C>A (p.Leu1398Ile)
n.1058-7950C>A (p.=)
n.2129+4011C>A
c.6001C>A (p.Leu2001Ile)
c.6469C>A (p.Leu2157Ile)
c.6493C>A (p.Leu2165Ile)
c.6460C>A (p.Leu2154Ile)
c.6433C>A (p.Leu2145Ile)
13g.23337435T>ACA387521823SACSc.6441A>T (p.Lys2147Asn)
c.2186-7951A>T (p.=)
c.2431+4010A>T (p.=)
c.4191A>T (p.Lys1397Asn)
n.1058-7951A>T (p.=)
n.2129+4010A>T
c.6000A>T (p.Lys2000Asn)
c.6468A>T (p.Lys2156Asn)
c.6492A>T (p.Lys2164Asn)
c.6459A>T (p.Lys2153Asn)
c.6432A>T (p.Lys2144Asn)
13g.23337435T>CCA483161553SACSc.6441A>G (p.Lys2147=)
c.2186-7951A>G (p.=)
c.2431+4010A>G (p.=)
c.4191A>G (p.Lys1397=)
n.1058-7951A>G (p.=)
n.2129+4010A>G
c.6000A>G (p.Lys2000=)
c.6468A>G (p.Lys2156=)
c.6492A>G (p.Lys2164=)
c.6459A>G (p.Lys2153=)
c.6432A>G (p.Lys2144=)
13g.23337435T>GCA387521824SACSc.6441A>C (p.Lys2147Asn)
c.2186-7951A>C (p.=)
c.2431+4010A>C (p.=)
c.4191A>C (p.Lys1397Asn)
n.1058-7951A>C (p.=)
n.2129+4010A>C
c.6000A>C (p.Lys2000Asn)
c.6468A>C (p.Lys2156Asn)
c.6492A>C (p.Lys2164Asn)
c.6459A>C (p.Lys2153Asn)
c.6432A>C (p.Lys2144Asn)
13g.23337436T>ACA387521826SACSc.6440A>T (p.Lys2147Ile)
c.2186-7952A>T (p.=)
c.2431+4009A>T (p.=)
c.4190A>T (p.Lys1397Ile)
n.1058-7952A>T (p.=)
n.2129+4009A>T
c.5999A>T (p.Lys2000Ile)
c.6467A>T (p.Lys2156Ile)
c.6491A>T (p.Lys2164Ile)
c.6458A>T (p.Lys2153Ile)
c.6431A>T (p.Lys2144Ile)
13g.23337436T>CCA387521828SACSc.6440A>G (p.Lys2147Arg)
c.2186-7952A>G (p.=)
c.2431+4009A>G (p.=)
c.4190A>G (p.Lys1397Arg)
n.1058-7952A>G (p.=)
n.2129+4009A>G
c.5999A>G (p.Lys2000Arg)
c.6467A>G (p.Lys2156Arg)
c.6491A>G (p.Lys2164Arg)
c.6458A>G (p.Lys2153Arg)
c.6431A>G (p.Lys2144Arg)
13g.23337436T>GCA387521830SACSc.6440A>C (p.Lys2147Thr)
c.2186-7952A>C (p.=)
c.2431+4009A>C (p.=)
c.4190A>C (p.Lys1397Thr)
n.1058-7952A>C (p.=)
n.2129+4009A>C
c.5999A>C (p.Lys2000Thr)
c.6467A>C (p.Lys2156Thr)
c.6491A>C (p.Lys2164Thr)
c.6458A>C (p.Lys2153Thr)
c.6431A>C (p.Lys2144Thr)
13g.23337437T>ACA387521832SACSc.6439A>T (p.Lys2147Ter)
c.2186-7953A>T (p.=)
c.2431+4008A>T (p.=)
c.4189A>T (p.Lys1397Ter)
n.1058-7953A>T (p.=)
n.2129+4008A>T
c.5998A>T (p.Lys2000Ter)
c.6466A>T (p.Lys2156Ter)
c.6490A>T (p.Lys2164Ter)
c.6457A>T (p.Lys2153Ter)
c.6430A>T (p.Lys2144Ter)
13g.23337437T>CCA387521834SACSc.6439A>G (p.Lys2147Glu)
c.2186-7953A>G (p.=)
c.2431+4008A>G (p.=)
c.4189A>G (p.Lys1397Glu)
n.1058-7953A>G (p.=)
n.2129+4008A>G
c.5998A>G (p.Lys2000Glu)
c.6466A>G (p.Lys2156Glu)
c.6490A>G (p.Lys2164Glu)
c.6457A>G (p.Lys2153Glu)
c.6430A>G (p.Lys2144Glu)
13g.23337437T>GCA387521835SACSc.6439A>C (p.Lys2147Gln)
c.2186-7953A>C (p.=)
c.2431+4008A>C (p.=)
c.4189A>C (p.Lys1397Gln)
n.1058-7953A>C (p.=)
n.2129+4008A>C
c.5998A>C (p.Lys2000Gln)
c.6466A>C (p.Lys2156Gln)
c.6490A>C (p.Lys2164Gln)
c.6457A>C (p.Lys2153Gln)
c.6430A>C (p.Lys2144Gln)
13g.23337438A>CCA387521836SACSc.6438T>G (p.Ile2146Met)
c.2186-7954T>G (p.=)
c.2431+4007T>G (p.=)
c.4188T>G (p.Ile1396Met)
n.1058-7954T>G (p.=)
n.2129+4007T>G
c.5997T>G (p.Ile1999Met)
c.6465T>G (p.Ile2155Met)
c.6489T>G (p.Ile2163Met)
c.6456T>G (p.Ile2152Met)
c.6429T>G (p.Ile2143Met)
13g.23337438A>GCA483161560SACSc.6438T>C (p.Ile2146=)
c.2186-7954T>C (p.=)
c.2431+4007T>C (p.=)
c.4188T>C (p.Ile1396=)
n.1058-7954T>C (p.=)
n.2129+4007T>C
c.5997T>C (p.Ile1999=)
c.6465T>C (p.Ile2155=)
c.6489T>C (p.Ile2163=)
c.6456T>C (p.Ile2152=)
c.6429T>C (p.Ile2143=)
13g.23337438A>TCA483161562SACSc.6438T>A (p.Ile2146=)
c.2186-7954T>A (p.=)
c.2431+4007T>A (p.=)
c.4188T>A (p.Ile1396=)
n.1058-7954T>A (p.=)
n.2129+4007T>A
c.5997T>A (p.Ile1999=)
c.6465T>A (p.Ile2155=)
c.6489T>A (p.Ile2163=)
c.6456T>A (p.Ile2152=)
c.6429T>A (p.Ile2143=)
13g.23337439A>CCA387521842SACSc.6437T>G (p.Ile2146Ser)
c.2186-7955T>G (p.=)
c.2431+4006T>G (p.=)
c.4187T>G (p.Ile1396Ser)
n.1058-7955T>G (p.=)
n.2129+4006T>G
c.5996T>G (p.Ile1999Ser)
c.6464T>G (p.Ile2155Ser)
c.6488T>G (p.Ile2163Ser)
c.6455T>G (p.Ile2152Ser)
c.6428T>G (p.Ile2143Ser)
13g.23337439A>GCA387521838SACSc.6437T>C (p.Ile2146Thr)
c.2186-7955T>C (p.=)
c.2431+4006T>C (p.=)
c.4187T>C (p.Ile1396Thr)
n.1058-7955T>C (p.=)
n.2129+4006T>C
c.5996T>C (p.Ile1999Thr)
c.6464T>C (p.Ile2155Thr)
c.6488T>C (p.Ile2163Thr)
c.6455T>C (p.Ile2152Thr)
c.6428T>C (p.Ile2143Thr)
13g.23337439A>TCA387521840SACSc.6437T>A (p.Ile2146Asn)
c.2186-7955T>A (p.=)
c.2431+4006T>A (p.=)
c.4187T>A (p.Ile1396Asn)
n.1058-7955T>A (p.=)
n.2129+4006T>A
c.5996T>A (p.Ile1999Asn)
c.6464T>A (p.Ile2155Asn)
c.6488T>A (p.Ile2163Asn)
c.6455T>A (p.Ile2152Asn)
c.6428T>A (p.Ile2143Asn)
13g.23337440T>ACA387521845SACSc.6436A>T (p.Ile2146Phe)
c.2186-7956A>T (p.=)
c.2431+4005A>T (p.=)
c.4186A>T (p.Ile1396Phe)
n.1058-7956A>T (p.=)
n.2129+4005A>T
c.5995A>T (p.Ile1999Phe)
c.6463A>T (p.Ile2155Phe)
c.6487A>T (p.Ile2163Phe)
c.6454A>T (p.Ile2152Phe)
c.6427A>T (p.Ile2143Phe)
13g.23337440T>CCA387521847SACSc.6436A>G (p.Ile2146Val)
c.2186-7956A>G (p.=)
c.2431+4005A>G (p.=)
c.4186A>G (p.Ile1396Val)
n.1058-7956A>G (p.=)
n.2129+4005A>G
c.5995A>G (p.Ile1999Val)
c.6463A>G (p.Ile2155Val)
c.6487A>G (p.Ile2163Val)
c.6454A>G (p.Ile2152Val)
c.6427A>G (p.Ile2143Val)
ClinVar
13g.23337440T>GCA387521848SACSc.6436A>C (p.Ile2146Leu)
c.2186-7956A>C (p.=)
c.2431+4005A>C (p.=)
c.4186A>C (p.Ile1396Leu)
n.1058-7956A>C (p.=)
n.2129+4005A>C
c.5995A>C (p.Ile1999Leu)
c.6463A>C (p.Ile2155Leu)
c.6487A>C (p.Ile2163Leu)
c.6454A>C (p.Ile2152Leu)
c.6427A>C (p.Ile2143Leu)
13g.23337440T=CA2078627602SACSc.6436A= (p.Ile2146=)
c.2186-7956A= (p.=)
c.2431+4005A= (p.=)
c.4186A= (p.Ile1396=)
n.1058-7956A= (p.=)
n.2129+4005A=
c.5995A= (p.Ile1999=)
c.6463A= (p.Ile2155=)
c.6487A= (p.Ile2163=)
c.6454A= (p.Ile2152=)
c.6427A= (p.Ile2143=)
13g.23337441C>ACA387521851SACSc.6435G>T (p.Leu2145Phe)
c.2186-7957G>T (p.=)
c.2431+4004G>T (p.=)
c.4185G>T (p.Leu1395Phe)
n.1058-7957G>T (p.=)
n.2129+4004G>T
c.5994G>T (p.Leu1998Phe)
c.6462G>T (p.Leu2154Phe)
c.6486G>T (p.Leu2162Phe)
c.6453G>T (p.Leu2151Phe)
c.6426G>T (p.Leu2142Phe)
13g.23337441C=CA2078627610SACSc.6435G= (p.Leu2145=)
c.2186-7957G= (p.=)
c.2431+4004G= (p.=)
c.4185G= (p.Leu1395=)
n.1058-7957G= (p.=)
n.2129+4004G=
c.5994G= (p.Leu1998=)
c.6462G= (p.Leu2154=)
c.6486G= (p.Leu2162=)
c.6453G= (p.Leu2151=)
c.6426G= (p.Leu2142=)
13g.23337441C>GCA387521852SACSc.6435G>C (p.Leu2145Phe)
c.2186-7957G>C (p.=)
c.2431+4004G>C (p.=)
c.4185G>C (p.Leu1395Phe)
n.1058-7957G>C (p.=)
n.2129+4004G>C
c.5994G>C (p.Leu1998Phe)
c.6462G>C (p.Leu2154Phe)
c.6486G>C (p.Leu2162Phe)
c.6453G>C (p.Leu2151Phe)
c.6426G>C (p.Leu2142Phe)
ClinVar
13g.23337441C>TCA483161571SACSc.6435G>A (p.Leu2145=)
c.2186-7957G>A (p.=)
c.2431+4004G>A (p.=)
c.4185G>A (p.Leu1395=)
n.1058-7957G>A (p.=)
n.2129+4004G>A
c.5994G>A (p.Leu1998=)
c.6462G>A (p.Leu2154=)
c.6486G>A (p.Leu2162=)
c.6453G>A (p.Leu2151=)
c.6426G>A (p.Leu2142=)
13g.23337441_23337443delinsCAACA2078627611SACSc.6433_6435delinsTTG (p.Leu2145=)
c.2186-7959_2186-7957delinsTTG (p.=)
c.2431+4002_2431+4004delinsTTG (p.=)
c.4183_4185delinsTTG (p.Leu1395=)
n.1058-7959_1058-7957delinsTTG (p.=)
n.2129+4002_2129+4004delinsTTG
c.5992_5994delinsTTG (p.Leu1998=)
c.6460_6462delinsTTG (p.Leu2154=)
c.6484_6486delinsTTG (p.Leu2162=)
c.6451_6453delinsTTG (p.Leu2151=)
c.6424_6426delinsTTG (p.Leu2142=)
13g.23337442A=CA2078627616SACSc.6434T= (p.Leu2145=)
c.2186-7958T= (p.=)
c.2431+4003T= (p.=)
c.4184T= (p.Leu1395=)
n.1058-7958T= (p.=)
n.2129+4003T=
c.5993T= (p.Leu1998=)
c.6461T= (p.Leu2154=)
c.6485T= (p.Leu2162=)
c.6452T= (p.Leu2151=)
c.6425T= (p.Leu2142=)

Number of alleles fetched