Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.17497089_17500424delCA645293918BFSP1c.736-1384_957-66del
c.319-1384_540-66del
c.361-1384_582-66del
c.403-1384_624-66del
c.628-1384_849-66del
 ClinVar
20g.17498777G>ACA634417166BFSP1c.956+43C>T (n.956+43C>T)
c.539+43C>T (n.539+43C>T)
c.581+43C>T (n.581+43C>T)
c.623+43C>T (n.623+43C>T)
c.848+43C>T (n.848+43C>T)
 dbSNP gnomAD v2
20g.17498777G=CA2353084790BFSP1c.956+43C= (n.956+43C=)
c.539+43C= (n.539+43C=)
c.581+43C= (n.581+43C=)
c.623+43C= (n.623+43C=)
c.848+43C= (n.848+43C=)
20g.17498778T>CCA9772157BFSP1c.956+42A>G (n.956+42A>G)
c.539+42A>G (n.539+42A>G)
c.581+42A>G (n.581+42A>G)
c.623+42A>G (n.623+42A>G)
c.848+42A>G (n.848+42A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.17498778T=CA2353084791BFSP1c.956+42A= (n.956+42A=)
c.539+42A= (n.539+42A=)
c.581+42A= (n.581+42A=)
c.623+42A= (n.623+42A=)
c.848+42A= (n.848+42A=)
20g.17498779G>ACA2353084793BFSP1c.956+41C>T (n.956+41C>T)
c.539+41C>T (n.539+41C>T)
c.581+41C>T (n.581+41C>T)
c.623+41C>T (n.623+41C>T)
c.848+41C>T (n.848+41C>T)
 dbSNP gnomAD v4
20g.17498779G>CCA2651989246BFSP1c.956+41C>G (n.956+41C>G)
c.539+41C>G (n.539+41C>G)
c.581+41C>G (n.581+41C>G)
c.623+41C>G (n.623+41C>G)
c.848+41C>G (n.848+41C>G)
 gnomAD v4
20g.17498779G=CA2353084792BFSP1c.956+41C= (n.956+41C=)
c.539+41C= (n.539+41C=)
c.581+41C= (n.581+41C=)
c.623+41C= (n.623+41C=)
c.848+41C= (n.848+41C=)
20g.17498779G>TCA2651989245BFSP1c.956+41C>A (n.956+41C>A)
c.539+41C>A (n.539+41C>A)
c.581+41C>A (n.581+41C>A)
c.623+41C>A (n.623+41C>A)
c.848+41C>A (n.848+41C>A)
 gnomAD v4
20g.17498779_17498780delCA1015849434BFSP1c.956+40_956+41del (n.956+40_956+41del)
c.539+40_539+41del (n.539+40_539+41del)
c.581+40_581+41del (n.581+40_581+41del)
c.623+40_623+41del (n.623+40_623+41del)
c.848+40_848+41del (n.848+40_848+41del)
 gnomAD v3 gnomAD v4
20g.17498780G>ACA2651989247BFSP1c.956+40C>T (n.956+40C>T)
c.539+40C>T (n.539+40C>T)
c.581+40C>T (n.581+40C>T)
c.623+40C>T (n.623+40C>T)
c.848+40C>T (n.848+40C>T)
 gnomAD v4
20g.17498780G>TCA2651989248BFSP1c.956+40C>A (n.956+40C>A)
c.539+40C>A (n.539+40C>A)
c.581+40C>A (n.581+40C>A)
c.623+40C>A (n.623+40C>A)
c.848+40C>A (n.848+40C>A)
 gnomAD v4
20g.17498780_17498781insTTTTTTCA1015849435BFSP1c.956+39_956+40insAAAAAA (n.956+39_956+40insAAAAAA)
c.539+39_539+40insAAAAAA (n.539+39_539+40insAAAAAA)
c.581+39_581+40insAAAAAA (n.581+39_581+40insAAAAAA)
c.623+39_623+40insAAAAAA (n.623+39_623+40insAAAAAA)
c.848+39_848+40insAAAAAA (n.848+39_848+40insAAAAAA)
 gnomAD v3 gnomAD v4
20g.17498781A>GCA2651989249BFSP1c.956+39T>C (n.956+39T>C)
c.539+39T>C (n.539+39T>C)
c.581+39T>C (n.581+39T>C)
c.623+39T>C (n.623+39T>C)
c.848+39T>C (n.848+39T>C)
 gnomAD v4
20g.17498782A>GCA2651989250BFSP1c.956+38T>C (n.956+38T>C)
c.539+38T>C (n.539+38T>C)
c.581+38T>C (n.581+38T>C)
c.623+38T>C (n.623+38T>C)
c.848+38T>C (n.848+38T>C)
 gnomAD v4
20g.17498783G>ACA2353084795BFSP1c.956+37C>T (n.956+37C>T)
c.539+37C>T (n.539+37C>T)
c.581+37C>T (n.581+37C>T)
c.623+37C>T (n.623+37C>T)
c.848+37C>T (n.848+37C>T)
 dbSNP gnomAD v4
20g.17498783G>CCA2577343534BFSP1c.956+37C>G (n.956+37C>G)
c.539+37C>G (n.539+37C>G)
c.581+37C>G (n.581+37C>G)
c.623+37C>G (n.623+37C>G)
c.848+37C>G (n.848+37C>G)
20g.17498783G=CA2353084794BFSP1c.956+37C= (n.956+37C=)
c.539+37C= (n.539+37C=)
c.581+37C= (n.581+37C=)
c.623+37C= (n.623+37C=)
c.848+37C= (n.848+37C=)
20g.17498783G>TCA1015849436BFSP1c.956+37C>A (n.956+37C>A)
c.539+37C>A (n.539+37C>A)
c.581+37C>A (n.581+37C>A)
c.623+37C>A (n.623+37C>A)
c.848+37C>A (n.848+37C>A)
 gnomAD v3 gnomAD v4
20g.17498786delCA1015849437BFSP1c.956+35del (n.956+35del)
c.539+35del (n.539+35del)
c.581+35del (n.581+35del)
c.623+35del (n.623+35del)
c.848+35del (n.848+35del)
 gnomAD v3 gnomAD v4
20g.17498786A=CA2353084796BFSP1c.956+34T= (n.956+34T=)
c.539+34T= (n.539+34T=)
c.581+34T= (n.581+34T=)
c.623+34T= (n.623+34T=)
c.848+34T= (n.848+34T=)
20g.17498786A>TCA741726455BFSP1c.956+34T>A (n.956+34T>A)
c.539+34T>A (n.539+34T>A)
c.581+34T>A (n.581+34T>A)
c.623+34T>A (n.623+34T>A)
c.848+34T>A (n.848+34T>A)
 dbSNP
20g.17498787T>ACA741726458BFSP1c.956+33A>T (n.956+33A>T)
c.539+33A>T (n.539+33A>T)
c.581+33A>T (n.581+33A>T)
c.623+33A>T (n.623+33A>T)
c.848+33A>T (n.848+33A>T)
 dbSNP gnomAD v3 gnomAD v4
20g.17498787T=CA2353084797BFSP1c.956+33A= (n.956+33A=)
c.539+33A= (n.539+33A=)
c.581+33A= (n.581+33A=)
c.623+33A= (n.623+33A=)
c.848+33A= (n.848+33A=)
20g.17498789A=CA2353084798BFSP1c.956+31T= (n.956+31T=)
c.539+31T= (n.539+31T=)
c.581+31T= (n.581+31T=)
c.623+31T= (n.623+31T=)
c.848+31T= (n.848+31T=)
20g.17498789A>GCA2353084799BFSP1c.956+31T>C (n.956+31T>C)
c.539+31T>C (n.539+31T>C)
c.581+31T>C (n.581+31T>C)
c.623+31T>C (n.623+31T>C)
c.848+31T>C (n.848+31T>C)
 dbSNP
20g.17498789A>TCA2577343535BFSP1c.956+31T>A (n.956+31T>A)
c.539+31T>A (n.539+31T>A)
c.581+31T>A (n.581+31T>A)
c.623+31T>A (n.623+31T>A)
c.848+31T>A (n.848+31T>A)
 gnomAD v4
20g.17498789_17498790delCA1015849439BFSP1c.956+30_956+31del (n.956+30_956+31del)
c.539+30_539+31del (n.539+30_539+31del)
c.581+30_581+31del (n.581+30_581+31del)
c.623+30_623+31del (n.623+30_623+31del)
c.848+30_848+31del (n.848+30_848+31del)
 gnomAD v3 gnomAD v4
20g.17498791T>CCA1015849440BFSP1c.956+29A>G (n.956+29A>G)
c.539+29A>G (n.539+29A>G)
c.581+29A>G (n.581+29A>G)
c.623+29A>G (n.623+29A>G)
c.848+29A>G (n.848+29A>G)
 gnomAD v3 gnomAD v4
20g.17498793G>ACA312242129BFSP1c.956+27C>T (n.956+27C>T)
c.539+27C>T (n.539+27C>T)
c.581+27C>T (n.581+27C>T)
c.623+27C>T (n.623+27C>T)
c.848+27C>T (n.848+27C>T)
 dbSNP
20g.17498793G=CA2353084800BFSP1c.956+27C= (n.956+27C=)
c.539+27C= (n.539+27C=)
c.581+27C= (n.581+27C=)
c.623+27C= (n.623+27C=)
c.848+27C= (n.848+27C=)
20g.17498794C>ACA2651989251BFSP1c.956+26G>T (n.956+26G>T)
c.539+26G>T (n.539+26G>T)
c.581+26G>T (n.581+26G>T)
c.623+26G>T (n.623+26G>T)
c.848+26G>T (n.848+26G>T)
 gnomAD v4
20g.17498794C>TCA2577343536BFSP1c.956+26G>A (n.956+26G>A)
c.539+26G>A (n.539+26G>A)
c.581+26G>A (n.581+26G>A)
c.623+26G>A (n.623+26G>A)
c.848+26G>A (n.848+26G>A)
 gnomAD v4
20g.17498794_17498795insGACCACA1015849442BFSP1c.956+25_956+26insTGGTC (n.956+25_956+26insTGGTC)
c.539+25_539+26insTGGTC (n.539+25_539+26insTGGTC)
c.581+25_581+26insTGGTC (n.581+25_581+26insTGGTC)
c.623+25_623+26insTGGTC (n.623+25_623+26insTGGTC)
c.848+25_848+26insTGGTC (n.848+25_848+26insTGGTC)
 gnomAD v3 gnomAD v4
20g.17498795C=CA2353084801BFSP1c.956+25G= (n.956+25G=)
c.539+25G= (n.539+25G=)
c.581+25G= (n.581+25G=)
c.623+25G= (n.623+25G=)
c.848+25G= (n.848+25G=)
20g.17498795C>TCA312242132BFSP1c.956+25G>A (n.956+25G>A)
c.539+25G>A (n.539+25G>A)
c.581+25G>A (n.581+25G>A)
c.623+25G>A (n.623+25G>A)
c.848+25G>A (n.848+25G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.17498796T>CCA1015849444BFSP1c.956+24A>G (n.956+24A>G)
c.539+24A>G (n.539+24A>G)
c.581+24A>G (n.581+24A>G)
c.623+24A>G (n.623+24A>G)
c.848+24A>G (n.848+24A>G)
 gnomAD v3 gnomAD v4
20g.17498797G>CCA2815428177BFSP1c.956+23C>G (n.956+23C>G)
c.539+23C>G (n.539+23C>G)
c.581+23C>G (n.581+23C>G)
c.623+23C>G (n.623+23C>G)
c.848+23C>G (n.848+23C>G)
20g.17498797_17498798insACA1015849445BFSP1c.956+22_956+23insT (n.956+22_956+23insT)
c.539+22_539+23insT (n.539+22_539+23insT)
c.581+22_581+23insT (n.581+22_581+23insT)
c.623+22_623+23insT (n.623+22_623+23insT)
c.848+22_848+23insT (n.848+22_848+23insT)
 gnomAD v3 gnomAD v4
20g.17498801G>TCA2577343538BFSP1c.956+19C>A (n.956+19C>A)
c.539+19C>A (n.539+19C>A)
c.581+19C>A (n.581+19C>A)
c.623+19C>A (n.623+19C>A)
c.848+19C>A (n.848+19C>A)
 dbSNP gnomAD v4
20g.17498804delCA2577343537BFSP1c.956+19del (n.956+19del)
c.539+19del (n.539+19del)
c.581+19del (n.581+19del)
c.623+19del (n.623+19del)
c.848+19del (n.848+19del)
20g.17498801_17498808delCA1015849446BFSP1c.956+12_956+19del (n.956+12_956+19del)
c.539+12_539+19del (n.539+12_539+19del)
c.581+12_581+19del (n.581+12_581+19del)
c.623+12_623+19del (n.623+12_623+19del)
c.848+12_848+19del (n.848+12_848+19del)
 gnomAD v3 gnomAD v4
20g.17498802G>ACA634417167BFSP1c.956+18C>T (n.956+18C>T)
c.539+18C>T (n.539+18C>T)
c.581+18C>T (n.581+18C>T)
c.623+18C>T (n.623+18C>T)
c.848+18C>T (n.848+18C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.17498802G=CA2353084802BFSP1c.956+18C= (n.956+18C=)
c.539+18C= (n.539+18C=)
c.581+18C= (n.581+18C=)
c.623+18C= (n.623+18C=)
c.848+18C= (n.848+18C=)
20g.17498803G>ACA2577343539BFSP1c.956+17C>T (n.956+17C>T)
c.539+17C>T (n.539+17C>T)
c.581+17C>T (n.581+17C>T)
c.623+17C>T (n.623+17C>T)
c.848+17C>T (n.848+17C>T)
 gnomAD v4
20g.17498804G>ACA741726474BFSP1c.956+16C>T (n.956+16C>T)
c.539+16C>T (n.539+16C>T)
c.581+16C>T (n.581+16C>T)
c.623+16C>T (n.623+16C>T)
c.848+16C>T (n.848+16C>T)
 dbSNP
20g.17498804G>CCA9772158BFSP1c.956+16C>G (n.956+16C>G)
c.539+16C>G (n.539+16C>G)
c.581+16C>G (n.581+16C>G)
c.623+16C>G (n.623+16C>G)
c.848+16C>G (n.848+16C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.17498804G=CA2353084803BFSP1c.956+16C= (n.956+16C=)
c.539+16C= (n.539+16C=)
c.581+16C= (n.581+16C=)
c.623+16C= (n.623+16C=)
c.848+16C= (n.848+16C=)
20g.17498806G>ACA9772159BFSP1c.956+14C>T (n.956+14C>T)
c.539+14C>T (n.539+14C>T)
c.581+14C>T (n.581+14C>T)
c.623+14C>T (n.623+14C>T)
c.848+14C>T (n.848+14C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.17498806G=CA2353084804BFSP1c.956+14C= (n.956+14C=)
c.539+14C= (n.539+14C=)
c.581+14C= (n.581+14C=)
c.623+14C= (n.623+14C=)
c.848+14C= (n.848+14C=)
20g.17498807G>ACA634417168BFSP1c.956+13C>T (n.956+13C>T)
c.539+13C>T (n.539+13C>T)
c.581+13C>T (n.581+13C>T)
c.623+13C>T (n.623+13C>T)
c.848+13C>T (n.848+13C>T)
 dbSNP gnomAD v2 gnomAD v4
20g.17498807G=CA2353084805BFSP1c.956+13C= (n.956+13C=)
c.539+13C= (n.539+13C=)
c.581+13C= (n.581+13C=)
c.623+13C= (n.623+13C=)
c.848+13C= (n.848+13C=)
20g.17498808G>ACA2651989252BFSP1c.956+12C>T (n.956+12C>T)
c.539+12C>T (n.539+12C>T)
c.581+12C>T (n.581+12C>T)
c.623+12C>T (n.623+12C>T)
c.848+12C>T (n.848+12C>T)
 gnomAD v4
20g.17498808G=CA2353084806BFSP1c.956+12C= (n.956+12C=)
c.539+12C= (n.539+12C=)
c.581+12C= (n.581+12C=)
c.623+12C= (n.623+12C=)
c.848+12C= (n.848+12C=)
20g.17498808G>TCA9772160BFSP1c.956+12C>A (n.956+12C>A)
c.539+12C>A (n.539+12C>A)
c.581+12C>A (n.581+12C>A)
c.623+12C>A (n.623+12C>A)
c.848+12C>A (n.848+12C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.17498809C=CA2353084807BFSP1c.956+11G= (n.956+11G=)
c.539+11G= (n.539+11G=)
c.581+11G= (n.581+11G=)
c.623+11G= (n.623+11G=)
c.848+11G= (n.848+11G=)
20g.17498809C>TCA634417169BFSP1c.956+11G>A (n.956+11G>A)
c.539+11G>A (n.539+11G>A)
c.581+11G>A (n.581+11G>A)
c.623+11G>A (n.623+11G>A)
c.848+11G>A (n.848+11G>A)
 dbSNP gnomAD v2 gnomAD v4
20g.17498809_17498810insTCA1015849449BFSP1c.956+10_956+11insA (n.956+10_956+11insA)
c.539+10_539+11insA (n.539+10_539+11insA)
c.581+10_581+11insA (n.581+10_581+11insA)
c.623+10_623+11insA (n.623+10_623+11insA)
c.848+10_848+11insA (n.848+10_848+11insA)
 gnomAD v3 gnomAD v4
20g.17498810A=CA2353084808BFSP1c.956+10T= (n.956+10T=)
c.539+10T= (n.539+10T=)
c.581+10T= (n.581+10T=)
c.623+10T= (n.623+10T=)
c.848+10T= (n.848+10T=)
20g.17498810A>CCA2353084809BFSP1c.956+10T>G (n.956+10T>G)
c.539+10T>G (n.539+10T>G)
c.581+10T>G (n.581+10T>G)
c.623+10T>G (n.623+10T>G)
c.848+10T>G (n.848+10T>G)
 dbSNP
20g.17498812A=CA2353084810BFSP1c.956+8T= (n.956+8T=)
c.539+8T= (n.539+8T=)
c.581+8T= (n.581+8T=)
c.623+8T= (n.623+8T=)
c.848+8T= (n.848+8T=)
20g.17498813C>ACA9772163BFSP1c.956+7G>T (n.956+7G>T)
c.539+7G>T (n.539+7G>T)
c.581+7G>T (n.581+7G>T)
c.623+7G>T (n.623+7G>T)
c.848+7G>T (n.848+7G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.17498813C=CA2353084811BFSP1c.956+7G= (n.956+7G=)
c.539+7G= (n.539+7G=)
c.581+7G= (n.581+7G=)
c.623+7G= (n.623+7G=)
c.848+7G= (n.848+7G=)
20g.17498813C>GCA9772161BFSP1c.956+7G>C (n.956+7G>C)
c.539+7G>C (n.539+7G>C)
c.581+7G>C (n.581+7G>C)
c.623+7G>C (n.623+7G>C)
c.848+7G>C (n.848+7G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.17498813C>TCA9772162BFSP1c.956+7G>A (n.956+7G>A)
c.539+7G>A (n.539+7G>A)
c.581+7G>A (n.581+7G>A)
c.623+7G>A (n.623+7G>A)
c.848+7G>A (n.848+7G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.17498814_17498817dupCA634417170BFSP1c.956+4_956+7dup (n.956+4_956+7dup)
c.539+4_539+7dup (n.539+4_539+7dup)
c.581+4_581+7dup (n.581+4_581+7dup)
c.623+4_623+7dup (n.623+4_623+7dup)
c.848+4_848+7dup (n.848+4_848+7dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.17498814G>ACA9772164BFSP1c.956+6C>T (n.956+6C>T)
c.539+6C>T (n.539+6C>T)
c.581+6C>T (n.581+6C>T)
c.623+6C>T (n.623+6C>T)
c.848+6C>T (n.848+6C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.17498814G=CA2353084812BFSP1c.956+6C= (n.956+6C=)
c.539+6C= (n.539+6C=)
c.581+6C= (n.581+6C=)
c.623+6C= (n.623+6C=)
c.848+6C= (n.848+6C=)
20g.17498814G>TCA9772165BFSP1c.956+6C>A (n.956+6C>A)
c.539+6C>A (n.539+6C>A)
c.581+6C>A (n.581+6C>A)
c.623+6C>A (n.623+6C>A)
c.848+6C>A (n.848+6C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.17498815C>TCA2577343540BFSP1c.956+5G>A (n.956+5G>A)
c.539+5G>A (n.539+5G>A)
c.581+5G>A (n.581+5G>A)
c.623+5G>A (n.623+5G>A)
c.848+5G>A (n.848+5G>A)
 gnomAD v4
20g.17498818A>CCA408317142BFSP1c.956+2T>G (n.956+2T>G)
c.539+2T>G (n.539+2T>G)
c.581+2T>G (n.581+2T>G)
c.623+2T>G (n.623+2T>G)
c.848+2T>G (n.848+2T>G)
20g.17498818A>GCA408317143BFSP1c.956+2T>C (n.956+2T>C)
c.539+2T>C (n.539+2T>C)
c.581+2T>C (n.581+2T>C)
c.623+2T>C (n.623+2T>C)
c.848+2T>C (n.848+2T>C)
20g.17498818A>TCA408317144BFSP1c.956+2T>A (n.956+2T>A)
c.539+2T>A (n.539+2T>A)
c.581+2T>A (n.581+2T>A)
c.623+2T>A (n.623+2T>A)
c.848+2T>A (n.848+2T>A)
20g.17498819C>ACA408317145BFSP1c.956+1G>T (n.956+1G>T)
c.539+1G>T (n.539+1G>T)
c.581+1G>T (n.581+1G>T)
c.623+1G>T (n.623+1G>T)
c.848+1G>T (n.848+1G>T)
20g.17498819C=CA2353084813BFSP1c.956+1G= (n.956+1G=)
c.539+1G= (n.539+1G=)
c.581+1G= (n.581+1G=)
c.623+1G= (n.623+1G=)
c.848+1G= (n.848+1G=)
20g.17498819C>GCA408317146BFSP1c.956+1G>C (n.956+1G>C)
c.539+1G>C (n.539+1G>C)
c.581+1G>C (n.581+1G>C)
c.623+1G>C (n.623+1G>C)
c.848+1G>C (n.848+1G>C)
20g.17498819C>TCA9772166BFSP1c.956+1G>A (n.956+1G>A)
c.539+1G>A (n.539+1G>A)
c.581+1G>A (n.581+1G>A)
c.623+1G>A (n.623+1G>A)
c.848+1G>A (n.848+1G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.17498820C>ACA408317147BFSP1c.956G>T (p.Arg319Met)
c.539G>T (p.Arg180Met)
c.581G>T (p.Arg194Met)
c.623G>T (p.Arg208Met)
c.848G>T (p.Arg283Met)
20g.17498820C>GCA408317148BFSP1c.956G>C (p.Arg319Thr)
c.539G>C (p.Arg180Thr)
c.581G>C (p.Arg194Thr)
c.623G>C (p.Arg208Thr)
c.848G>C (p.Arg283Thr)
20g.17498820C>TCA408317149BFSP1c.956G>A (p.Arg319Lys)
c.539G>A (p.Arg180Lys)
c.581G>A (p.Arg194Lys)
c.623G>A (p.Arg208Lys)
c.848G>A (p.Arg283Lys)
20g.17498821T>ACA408317150BFSP1c.955A>T (p.Arg319Trp)
c.538A>T (p.Arg180Trp)
c.580A>T (p.Arg194Trp)
c.622A>T (p.Arg208Trp)
c.847A>T (p.Arg283Trp)
20g.17498821T>CCA408317151BFSP1c.955A>G (p.Arg319Gly)
c.538A>G (p.Arg180Gly)
c.580A>G (p.Arg194Gly)
c.622A>G (p.Arg208Gly)
c.847A>G (p.Arg283Gly)
20g.17498821T>GCA509810101BFSP1c.955A>C (p.Arg319=)
c.538A>C (p.Arg180=)
c.580A>C (p.Arg194=)
c.622A>C (p.Arg208=)
c.847A>C (p.Arg283=)
20g.17498822G>ACA9772167BFSP1c.954C>T (p.Asn318=)
c.537C>T (p.Asn179=)
c.579C>T (p.Asn193=)
c.621C>T (p.Asn207=)
c.846C>T (p.Asn282=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.17498822G>CCA408317152BFSP1c.954C>G (p.Asn318Lys)
c.537C>G (p.Asn179Lys)
c.579C>G (p.Asn193Lys)
c.621C>G (p.Asn207Lys)
c.846C>G (p.Asn282Lys)
20g.17498822G=CA2353084814BFSP1c.954C= (p.Asn318=)
c.537C= (p.Asn179=)
c.579C= (p.Asn193=)
c.621C= (p.Asn207=)
c.846C= (p.Asn282=)
20g.17498822G>TCA408317153BFSP1c.954C>A (p.Asn318Lys)
c.537C>A (p.Asn179Lys)
c.579C>A (p.Asn193Lys)
c.621C>A (p.Asn207Lys)
c.846C>A (p.Asn282Lys)
20g.17498823T>ACA408317154BFSP1c.953A>T (p.Asn318Ile)
c.536A>T (p.Asn179Ile)
c.578A>T (p.Asn193Ile)
c.620A>T (p.Asn207Ile)
c.845A>T (p.Asn282Ile)
20g.17498823T>CCA408317155BFSP1c.953A>G (p.Asn318Ser)
c.536A>G (p.Asn179Ser)
c.578A>G (p.Asn193Ser)
c.620A>G (p.Asn207Ser)
c.845A>G (p.Asn282Ser)
 gnomAD v4
20g.17498823T>GCA408317156BFSP1c.953A>C (p.Asn318Thr)
c.536A>C (p.Asn179Thr)
c.578A>C (p.Asn193Thr)
c.620A>C (p.Asn207Thr)
c.845A>C (p.Asn282Thr)
20g.17498824T>ACA408317157BFSP1c.952A>T (p.Asn318Tyr)
c.535A>T (p.Asn179Tyr)
c.577A>T (p.Asn193Tyr)
c.619A>T (p.Asn207Tyr)
c.844A>T (p.Asn282Tyr)
 gnomAD v4
20g.17498824T>CCA408317158BFSP1c.952A>G (p.Asn318Asp)
c.535A>G (p.Asn179Asp)
c.577A>G (p.Asn193Asp)
c.619A>G (p.Asn207Asp)
c.844A>G (p.Asn282Asp)
 ClinVar dbSNP gnomAD v4
20g.17498824T>GCA408317159BFSP1c.952A>C (p.Asn318His)
c.535A>C (p.Asn179His)
c.577A>C (p.Asn193His)
c.619A>C (p.Asn207His)
c.844A>C (p.Asn282His)
20g.17498824T=CA2353084815BFSP1c.952A= (p.Asn318=)
c.535A= (p.Asn179=)
c.577A= (p.Asn193=)
c.619A= (p.Asn207=)
c.844A= (p.Asn282=)
20g.17498825G>ACA509810103BFSP1c.951C>T (p.Gly317=)
c.534C>T (p.Gly178=)
c.576C>T (p.Gly192=)
c.618C>T (p.Gly206=)
c.843C>T (p.Gly281=)
 dbSNP
20g.17498825G>CCA509810104BFSP1c.951C>G (p.Gly317=)
c.534C>G (p.Gly178=)
c.576C>G (p.Gly192=)
c.618C>G (p.Gly206=)
c.843C>G (p.Gly281=)
20g.17498825G=CA2353084816BFSP1c.951C= (p.Gly317=)
c.534C= (p.Gly178=)
c.576C= (p.Gly192=)
c.618C= (p.Gly206=)
c.843C= (p.Gly281=)
20g.17498825G>TCA509810106BFSP1c.951C>A (p.Gly317=)
c.534C>A (p.Gly178=)
c.576C>A (p.Gly192=)
c.618C>A (p.Gly206=)
c.843C>A (p.Gly281=)
20g.17498826C>ACA408317160BFSP1c.950G>T (p.Gly317Val)
c.533G>T (p.Gly178Val)
c.575G>T (p.Gly192Val)
c.617G>T (p.Gly206Val)
c.842G>T (p.Gly281Val)
20g.17498826C=CA2353084817BFSP1c.950G= (p.Gly317=)
c.533G= (p.Gly178=)
c.575G= (p.Gly192=)
c.617G= (p.Gly206=)
c.842G= (p.Gly281=)
20g.17498826C>GCA408317161BFSP1c.950G>C (p.Gly317Ala)
c.533G>C (p.Gly178Ala)
c.575G>C (p.Gly192Ala)
c.617G>C (p.Gly206Ala)
c.842G>C (p.Gly281Ala)
 dbSNP gnomAD v2 gnomAD v4
20g.17498826C>TCA312242160BFSP1c.950G>A (p.Gly317Asp)
c.533G>A (p.Gly178Asp)
c.575G>A (p.Gly192Asp)
c.617G>A (p.Gly206Asp)
c.842G>A (p.Gly281Asp)
 dbSNP gnomAD v3 gnomAD v4
20g.17498827C>ACA408317163BFSP1c.949G>T (p.Gly317Cys)
c.532G>T (p.Gly178Cys)
c.574G>T (p.Gly192Cys)
c.616G>T (p.Gly206Cys)
c.841G>T (p.Gly281Cys)
20g.17498827C>GCA408317164BFSP1c.949G>C (p.Gly317Arg)
c.532G>C (p.Gly178Arg)
c.574G>C (p.Gly192Arg)
c.616G>C (p.Gly206Arg)
c.841G>C (p.Gly281Arg)
 gnomAD v4
20g.17498827C>TCA408317162BFSP1c.949G>A (p.Gly317Ser)
c.532G>A (p.Gly178Ser)
c.574G>A (p.Gly192Ser)
c.616G>A (p.Gly206Ser)
c.841G>A (p.Gly281Ser)
20g.17498828T>ACA408317166BFSP1c.948A>T (p.Glu316Asp)
c.531A>T (p.Glu177Asp)
c.573A>T (p.Glu191Asp)
c.615A>T (p.Glu205Asp)
c.840A>T (p.Glu280Asp)
20g.17498828T>CCA509810110BFSP1c.948A>G (p.Glu316=)
c.531A>G (p.Glu177=)
c.573A>G (p.Glu191=)
c.615A>G (p.Glu205=)
c.840A>G (p.Glu280=)
20g.17498828T>GCA408317165BFSP1c.948A>C (p.Glu316Asp)
c.531A>C (p.Glu177Asp)
c.573A>C (p.Glu191Asp)
c.615A>C (p.Glu205Asp)
c.840A>C (p.Glu280Asp)
20g.17498829T>ACA408317169BFSP1c.947A>T (p.Glu316Val)
c.530A>T (p.Glu177Val)
c.572A>T (p.Glu191Val)
c.614A>T (p.Glu205Val)
c.839A>T (p.Glu280Val)
20g.17498829T>CCA408317167BFSP1c.947A>G (p.Glu316Gly)
c.530A>G (p.Glu177Gly)
c.572A>G (p.Glu191Gly)
c.614A>G (p.Glu205Gly)
c.839A>G (p.Glu280Gly)
20g.17498829T>GCA408317168BFSP1c.947A>C (p.Glu316Ala)
c.530A>C (p.Glu177Ala)
c.572A>C (p.Glu191Ala)
c.614A>C (p.Glu205Ala)
c.839A>C (p.Glu280Ala)
20g.17498830C>ACA408317170BFSP1c.946G>T (p.Glu316Ter)
c.529G>T (p.Glu177Ter)
c.571G>T (p.Glu191Ter)
c.613G>T (p.Glu205Ter)
c.838G>T (p.Glu280Ter)
20g.17498830C>GCA408317171BFSP1c.946G>C (p.Glu316Gln)
c.529G>C (p.Glu177Gln)
c.571G>C (p.Glu191Gln)
c.613G>C (p.Glu205Gln)
c.838G>C (p.Glu280Gln)
20g.17498830C>TCA408317172BFSP1c.946G>A (p.Glu316Lys)
c.529G>A (p.Glu177Lys)
c.571G>A (p.Glu191Lys)
c.613G>A (p.Glu205Lys)
c.838G>A (p.Glu280Lys)
20g.17498831A>CCA408317173BFSP1c.945T>G (p.Ile315Met)
c.528T>G (p.Ile176Met)
c.570T>G (p.Ile190Met)
c.612T>G (p.Ile204Met)
c.837T>G (p.Ile279Met)
20g.17498831A>GCA509810114BFSP1c.945T>C (p.Ile315=)
c.528T>C (p.Ile176=)
c.570T>C (p.Ile190=)
c.612T>C (p.Ile204=)
c.837T>C (p.Ile279=)
20g.17498831A>TCA509810115BFSP1c.945T>A (p.Ile315=)
c.528T>A (p.Ile176=)
c.570T>A (p.Ile190=)
c.612T>A (p.Ile204=)
c.837T>A (p.Ile279=)
20g.17498832A>CCA408317176BFSP1c.944T>G (p.Ile315Ser)
c.527T>G (p.Ile176Ser)
c.569T>G (p.Ile190Ser)
c.611T>G (p.Ile204Ser)
c.836T>G (p.Ile279Ser)
20g.17498832A>GCA408317174BFSP1c.944T>C (p.Ile315Thr)
c.527T>C (p.Ile176Thr)
c.569T>C (p.Ile190Thr)
c.611T>C (p.Ile204Thr)
c.836T>C (p.Ile279Thr)
 gnomAD v4
20g.17498832A>TCA408317175BFSP1c.944T>A (p.Ile315Asn)
c.527T>A (p.Ile176Asn)
c.569T>A (p.Ile190Asn)
c.611T>A (p.Ile204Asn)
c.836T>A (p.Ile279Asn)
20g.17498833T>ACA408317177BFSP1c.943A>T (p.Ile315Phe)
c.526A>T (p.Ile176Phe)
c.568A>T (p.Ile190Phe)
c.610A>T (p.Ile204Phe)
c.835A>T (p.Ile279Phe)
20g.17498833T>CCA408317178BFSP1c.943A>G (p.Ile315Val)
c.526A>G (p.Ile176Val)
c.568A>G (p.Ile190Val)
c.610A>G (p.Ile204Val)
c.835A>G (p.Ile279Val)
20g.17498833T>GCA408317179BFSP1c.943A>C (p.Ile315Leu)
c.526A>C (p.Ile176Leu)
c.568A>C (p.Ile190Leu)
c.610A>C (p.Ile204Leu)
c.835A>C (p.Ile279Leu)
20g.17498834C>ACA408317180BFSP1c.942G>T (p.Glu314Asp)
c.525G>T (p.Glu175Asp)
c.567G>T (p.Glu189Asp)
c.609G>T (p.Glu203Asp)
c.834G>T (p.Glu278Asp)
 gnomAD v4
20g.17498834C>GCA408317181BFSP1c.942G>C (p.Glu314Asp)
c.525G>C (p.Glu175Asp)
c.567G>C (p.Glu189Asp)
c.609G>C (p.Glu203Asp)
c.834G>C (p.Glu278Asp)
20g.17498834C>TCA509810117BFSP1c.942G>A (p.Glu314=)
c.525G>A (p.Glu175=)
c.567G>A (p.Glu189=)
c.609G>A (p.Glu203=)
c.834G>A (p.Glu278=)
20g.17498835T>ACA408317182BFSP1c.941A>T (p.Glu314Val)
c.524A>T (p.Glu175Val)
c.566A>T (p.Glu189Val)
c.608A>T (p.Glu203Val)
c.833A>T (p.Glu278Val)
20g.17498835T>CCA408317184BFSP1c.941A>G (p.Glu314Gly)
c.524A>G (p.Glu175Gly)
c.566A>G (p.Glu189Gly)
c.608A>G (p.Glu203Gly)
c.833A>G (p.Glu278Gly)
20g.17498835T>GCA408317183BFSP1c.941A>C (p.Glu314Ala)
c.524A>C (p.Glu175Ala)
c.566A>C (p.Glu189Ala)
c.608A>C (p.Glu203Ala)
c.833A>C (p.Glu278Ala)
20g.17498836C>ACA408317185BFSP1c.940G>T (p.Glu314Ter)
c.523G>T (p.Glu175Ter)
c.565G>T (p.Glu189Ter)
c.607G>T (p.Glu203Ter)
c.832G>T (p.Glu278Ter)
20g.17498836C=CA2353084818BFSP1c.940G= (p.Glu314=)
c.523G= (p.Glu175=)
c.565G= (p.Glu189=)
c.607G= (p.Glu203=)
c.832G= (p.Glu278=)
20g.17498836C>GCA408317186BFSP1c.940G>C (p.Glu314Gln)
c.523G>C (p.Glu175Gln)
c.565G>C (p.Glu189Gln)
c.607G>C (p.Glu203Gln)
c.832G>C (p.Glu278Gln)
 dbSNP gnomAD v2
20g.17498836C>TCA9772168BFSP1c.940G>A (p.Glu314Lys)
c.523G>A (p.Glu175Lys)
c.565G>A (p.Glu189Lys)
c.607G>A (p.Glu203Lys)
c.832G>A (p.Glu278Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.17498845_17498852delCA2651989253BFSP1c.933_940del (p.Ile312AspfsTer2)
c.516_523del (p.Ile173AspfsTer2)
c.558_565del (p.Ile187AspfsTer2)
c.600_607del (p.Ile201AspfsTer2)
c.825_832del (p.Ile276AspfsTer2)
 gnomAD v4
20g.17498837G>ACA9772169BFSP1c.939C>T (p.Ile313=)
c.522C>T (p.Ile174=)
c.564C>T (p.Ile188=)
c.606C>T (p.Ile202=)
c.831C>T (p.Ile277=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.17498837G>CCA408317187BFSP1c.939C>G (p.Ile313Met)
c.522C>G (p.Ile174Met)
c.564C>G (p.Ile188Met)
c.606C>G (p.Ile202Met)
c.831C>G (p.Ile277Met)
20g.17498837G=CA2353084819BFSP1c.939C= (p.Ile313=)
c.522C= (p.Ile174=)
c.564C= (p.Ile188=)
c.606C= (p.Ile202=)
c.831C= (p.Ile277=)
20g.17498837G>TCA509810119BFSP1c.939C>A (p.Ile313=)
c.522C>A (p.Ile174=)
c.564C>A (p.Ile188=)
c.606C>A (p.Ile202=)
c.831C>A (p.Ile277=)
20g.17498838A>CCA408317188BFSP1c.938T>G (p.Ile313Ser)
c.521T>G (p.Ile174Ser)
c.563T>G (p.Ile188Ser)
c.605T>G (p.Ile202Ser)
c.830T>G (p.Ile277Ser)
20g.17498838A>GCA408317189BFSP1c.938T>C (p.Ile313Thr)
c.521T>C (p.Ile174Thr)
c.563T>C (p.Ile188Thr)
c.605T>C (p.Ile202Thr)
c.830T>C (p.Ile277Thr)
20g.17498838A>TCA408317190BFSP1c.938T>A (p.Ile313Asn)
c.521T>A (p.Ile174Asn)
c.563T>A (p.Ile188Asn)
c.605T>A (p.Ile202Asn)
c.830T>A (p.Ile277Asn)
20g.17498839T>ACA408317191BFSP1c.937A>T (p.Ile313Phe)
c.520A>T (p.Ile174Phe)
c.562A>T (p.Ile188Phe)
c.604A>T (p.Ile202Phe)
c.829A>T (p.Ile277Phe)
20g.17498839T>CCA408317192BFSP1c.937A>G (p.Ile313Val)
c.520A>G (p.Ile174Val)
c.562A>G (p.Ile188Val)
c.604A>G (p.Ile202Val)
c.829A>G (p.Ile277Val)
20g.17498839T>GCA408317193BFSP1c.937A>C (p.Ile313Leu)
c.520A>C (p.Ile174Leu)
c.562A>C (p.Ile188Leu)
c.604A>C (p.Ile202Leu)
c.829A>C (p.Ile277Leu)
20g.17498840G>ACA509810122BFSP1c.936C>T (p.Ile312=)
c.519C>T (p.Ile173=)
c.561C>T (p.Ile187=)
c.603C>T (p.Ile201=)
c.828C>T (p.Ile276=)
20g.17498840G>CCA408317194BFSP1c.936C>G (p.Ile312Met)
c.519C>G (p.Ile173Met)
c.561C>G (p.Ile187Met)
c.603C>G (p.Ile201Met)
c.828C>G (p.Ile276Met)
20g.17498840G>TCA509810120BFSP1c.936C>A (p.Ile312=)
c.519C>A (p.Ile173=)
c.561C>A (p.Ile187=)
c.603C>A (p.Ile201=)
c.828C>A (p.Ile276=)
20g.17498841A>CCA408317197BFSP1c.935T>G (p.Ile312Ser)
c.518T>G (p.Ile173Ser)
c.560T>G (p.Ile187Ser)
c.602T>G (p.Ile201Ser)
c.827T>G (p.Ile276Ser)
20g.17498841A>GCA408317195BFSP1c.935T>C (p.Ile312Thr)
c.518T>C (p.Ile173Thr)
c.560T>C (p.Ile187Thr)
c.602T>C (p.Ile201Thr)
c.827T>C (p.Ile276Thr)
20g.17498841A>TCA408317196BFSP1c.935T>A (p.Ile312Asn)
c.518T>A (p.Ile173Asn)
c.560T>A (p.Ile187Asn)
c.602T>A (p.Ile201Asn)
c.827T>A (p.Ile276Asn)
20g.17498842T>ACA408317198BFSP1c.934A>T (p.Ile312Phe)
c.517A>T (p.Ile173Phe)
c.559A>T (p.Ile187Phe)
c.601A>T (p.Ile201Phe)
c.826A>T (p.Ile276Phe)
20g.17498842T>CCA408317199BFSP1c.934A>G (p.Ile312Val)
c.517A>G (p.Ile173Val)
c.559A>G (p.Ile187Val)
c.601A>G (p.Ile201Val)
c.826A>G (p.Ile276Val)
20g.17498842T>GCA408317200BFSP1c.934A>C (p.Ile312Leu)
c.517A>C (p.Ile173Leu)
c.559A>C (p.Ile187Leu)
c.601A>C (p.Ile201Leu)
c.826A>C (p.Ile276Leu)
20g.17498842T=CA2353084820BFSP1c.934A= (p.Ile312=)
c.517A= (p.Ile173=)
c.559A= (p.Ile187=)
c.601A= (p.Ile201=)
c.826A= (p.Ile276=)
20g.17498843A>CCA509810126BFSP1c.933T>G (p.Arg311=)
c.516T>G (p.Arg172=)
c.558T>G (p.Arg186=)
c.600T>G (p.Arg200=)
c.825T>G (p.Arg275=)
20g.17498843A>GCA509810127BFSP1c.933T>C (p.Arg311=)
c.516T>C (p.Arg172=)
c.558T>C (p.Arg186=)
c.600T>C (p.Arg200=)
c.825T>C (p.Arg275=)
20g.17498843A>TCA509810128BFSP1c.933T>A (p.Arg311=)
c.516T>A (p.Arg172=)
c.558T>A (p.Arg186=)
c.600T>A (p.Arg200=)
c.825T>A (p.Arg275=)
20g.17498843dupCA741726555BFSP1c.933dup (p.Ile312TyrfsTer5)
c.516dup (p.Ile173TyrfsTer5)
c.558dup (p.Ile187TyrfsTer5)
c.600dup (p.Ile201TyrfsTer5)
c.825dup (p.Ile276TyrfsTer5)
 dbSNP gnomAD v3 gnomAD v4
20g.17498844C>ACA408317201BFSP1c.932G>T (p.Arg311Leu)
c.515G>T (p.Arg172Leu)
c.557G>T (p.Arg186Leu)
c.599G>T (p.Arg200Leu)
c.824G>T (p.Arg275Leu)
 dbSNP gnomAD v3 gnomAD v4
20g.17498844C=CA2353084821BFSP1c.932G= (p.Arg311=)
c.515G= (p.Arg172=)
c.557G= (p.Arg186=)
c.599G= (p.Arg200=)
c.824G= (p.Arg275=)
20g.17498844C>GCA408317202BFSP1c.932G>C (p.Arg311Pro)
c.515G>C (p.Arg172Pro)
c.557G>C (p.Arg186Pro)
c.599G>C (p.Arg200Pro)
c.824G>C (p.Arg275Pro)
20g.17498844C>TCA9772170BFSP1c.932G>A (p.Arg311His)
c.515G>A (p.Arg172His)
c.557G>A (p.Arg186His)
c.599G>A (p.Arg200His)
c.824G>A (p.Arg275His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.17498845G>ACA9772172BFSP1c.931C>T (p.Arg311Cys)
c.514C>T (p.Arg172Cys)
c.556C>T (p.Arg186Cys)
c.598C>T (p.Arg200Cys)
c.823C>T (p.Arg275Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.17498845G>CCA408317203BFSP1c.931C>G (p.Arg311Gly)
c.514C>G (p.Arg172Gly)
c.556C>G (p.Arg186Gly)
c.598C>G (p.Arg200Gly)
c.823C>G (p.Arg275Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.17498845G=CA2353084822BFSP1c.931C= (p.Arg311=)
c.514C= (p.Arg172=)
c.556C= (p.Arg186=)
c.598C= (p.Arg200=)
c.823C= (p.Arg275=)
20g.17498845G>TCA9772171BFSP1c.931C>A (p.Arg311Ser)
c.514C>A (p.Arg172Ser)
c.556C>A (p.Arg186Ser)
c.598C>A (p.Arg200Ser)
c.823C>A (p.Arg275Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.17498846A=CA2353084823BFSP1c.930T= (p.His310=)
c.513T= (p.His171=)
c.555T= (p.His185=)
c.597T= (p.His199=)
c.822T= (p.His274=)
20g.17498846A>CCA408317204BFSP1c.930T>G (p.His310Gln)
c.513T>G (p.His171Gln)
c.555T>G (p.His185Gln)
c.597T>G (p.His199Gln)
c.822T>G (p.His274Gln)
20g.17498846A>GCA509810132BFSP1c.930T>C (p.His310=)
c.513T>C (p.His171=)
c.555T>C (p.His185=)
c.597T>C (p.His199=)
c.822T>C (p.His274=)
 dbSNP gnomAD v3 gnomAD v4
20g.17498846A>TCA408317205BFSP1c.930T>A (p.His310Gln)
c.513T>A (p.His171Gln)
c.555T>A (p.His185Gln)
c.597T>A (p.His199Gln)
c.822T>A (p.His274Gln)
20g.17498847T>ACA408317207BFSP1c.929A>T (p.His310Leu)
c.512A>T (p.His171Leu)
c.554A>T (p.His185Leu)
c.596A>T (p.His199Leu)
c.821A>T (p.His274Leu)
20g.17498847T>CCA312242186BFSP1c.929A>G (p.His310Arg)
c.512A>G (p.His171Arg)
c.554A>G (p.His185Arg)
c.596A>G (p.His199Arg)
c.821A>G (p.His274Arg)
 dbSNP gnomAD v4
20g.17498847T>GCA408317206BFSP1c.929A>C (p.His310Pro)
c.512A>C (p.His171Pro)
c.554A>C (p.His185Pro)
c.596A>C (p.His199Pro)
c.821A>C (p.His274Pro)
20g.17498847T=CA2353084824BFSP1c.929A= (p.His310=)
c.512A= (p.His171=)
c.554A= (p.His185=)
c.596A= (p.His199=)
c.821A= (p.His274=)
20g.17498848G>ACA408317208BFSP1c.928C>T (p.His310Tyr)
c.511C>T (p.His171Tyr)
c.553C>T (p.His185Tyr)
c.595C>T (p.His199Tyr)
c.820C>T (p.His274Tyr)
20g.17498848G>CCA408317209BFSP1c.928C>G (p.His310Asp)
c.511C>G (p.His171Asp)
c.553C>G (p.His185Asp)
c.595C>G (p.His199Asp)
c.820C>G (p.His274Asp)
20g.17498848G>TCA408317210BFSP1c.928C>A (p.His310Asn)
c.511C>A (p.His171Asn)
c.553C>A (p.His185Asn)
c.595C>A (p.His199Asn)
c.820C>A (p.His274Asn)
20g.17498849A>CCA408317211BFSP1c.927T>G (p.Tyr309Ter)
c.510T>G (p.Tyr170Ter)
c.552T>G (p.Tyr184Ter)
c.594T>G (p.Tyr198Ter)
c.819T>G (p.Tyr273Ter)
20g.17498849A>GCA509810136BFSP1c.927T>C (p.Tyr309=)
c.510T>C (p.Tyr170=)
c.552T>C (p.Tyr184=)
c.594T>C (p.Tyr198=)
c.819T>C (p.Tyr273=)
20g.17498849A>TCA408317212BFSP1c.927T>A (p.Tyr309Ter)
c.510T>A (p.Tyr170Ter)
c.552T>A (p.Tyr184Ter)
c.594T>A (p.Tyr198Ter)
c.819T>A (p.Tyr273Ter)
20g.17498850T>ACA408317213BFSP1c.926A>T (p.Tyr309Phe)
c.509A>T (p.Tyr170Phe)
c.551A>T (p.Tyr184Phe)
c.593A>T (p.Tyr198Phe)
c.818A>T (p.Tyr273Phe)
20g.17498850T>CCA408317214BFSP1c.926A>G (p.Tyr309Cys)
c.509A>G (p.Tyr170Cys)
c.551A>G (p.Tyr184Cys)
c.593A>G (p.Tyr198Cys)
c.818A>G (p.Tyr273Cys)
 gnomAD v4
20g.17498850T>GCA408317215BFSP1c.926A>C (p.Tyr309Ser)
c.509A>C (p.Tyr170Ser)
c.551A>C (p.Tyr184Ser)
c.593A>C (p.Tyr198Ser)
c.818A>C (p.Tyr273Ser)
20g.17498851A=CA2353084825BFSP1c.925T= (p.Tyr309=)
c.508T= (p.Tyr170=)
c.550T= (p.Tyr184=)
c.592T= (p.Tyr198=)
c.817T= (p.Tyr273=)
20g.17498851A>CCA408317216BFSP1c.925T>G (p.Tyr309Asp)
c.508T>G (p.Tyr170Asp)
c.550T>G (p.Tyr184Asp)
c.592T>G (p.Tyr198Asp)
c.817T>G (p.Tyr273Asp)
 dbSNP
20g.17498851A>GCA408317217BFSP1c.925T>C (p.Tyr309His)
c.508T>C (p.Tyr170His)
c.550T>C (p.Tyr184His)
c.592T>C (p.Tyr198His)
c.817T>C (p.Tyr273His)
20g.17498851A>TCA408317218BFSP1c.925T>A (p.Tyr309Asn)
c.508T>A (p.Tyr170Asn)
c.550T>A (p.Tyr184Asn)
c.592T>A (p.Tyr198Asn)
c.817T>A (p.Tyr273Asn)
20g.17498852C>ACA509810137BFSP1c.924G>T (p.Arg308=)
c.507G>T (p.Arg169=)
c.549G>T (p.Arg183=)
c.591G>T (p.Arg197=)
c.816G>T (p.Arg272=)
 gnomAD v4
20g.17498852C=CA2353084826BFSP1c.924G= (p.Arg308=)
c.507G= (p.Arg169=)
c.549G= (p.Arg183=)
c.591G= (p.Arg197=)
c.816G= (p.Arg272=)
20g.17498852C>GCA509810139BFSP1c.924G>C (p.Arg308=)
c.507G>C (p.Arg169=)
c.549G>C (p.Arg183=)
c.591G>C (p.Arg197=)
c.816G>C (p.Arg272=)
20g.17498852C>TCA509810138BFSP1c.924G>A (p.Arg308=)
c.507G>A (p.Arg169=)
c.549G>A (p.Arg183=)
c.591G>A (p.Arg197=)
c.816G>A (p.Arg272=)
 dbSNP gnomAD v2 gnomAD v4
20g.17498853C>ACA408317220BFSP1c.923G>T (p.Arg308Leu)
c.506G>T (p.Arg169Leu)
c.548G>T (p.Arg183Leu)
c.590G>T (p.Arg197Leu)
c.815G>T (p.Arg272Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.17498853C=CA2353084827BFSP1c.923G= (p.Arg308=)
c.506G= (p.Arg169=)
c.548G= (p.Arg183=)
c.590G= (p.Arg197=)
c.815G= (p.Arg272=)
20g.17498853C>GCA408317219BFSP1c.923G>C (p.Arg308Pro)
c.506G>C (p.Arg169Pro)
c.548G>C (p.Arg183Pro)
c.590G>C (p.Arg197Pro)
c.815G>C (p.Arg272Pro)
20g.17498853C>TCA9772173BFSP1c.923G>A (p.Arg308Gln)
c.506G>A (p.Arg169Gln)
c.548G>A (p.Arg183Gln)
c.590G>A (p.Arg197Gln)
c.815G>A (p.Arg272Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.17498854G>ACA408317221BFSP1c.922C>T (p.Arg308Trp)
c.505C>T (p.Arg169Trp)
c.547C>T (p.Arg183Trp)
c.589C>T (p.Arg197Trp)
c.814C>T (p.Arg272Trp)
 dbSNP gnomAD v4
20g.17498854G>CCA408317222BFSP1c.922C>G (p.Arg308Gly)
c.505C>G (p.Arg169Gly)
c.547C>G (p.Arg183Gly)
c.589C>G (p.Arg197Gly)
c.814C>G (p.Arg272Gly)
20g.17498854G=CA2353084828BFSP1c.922C= (p.Arg308=)
c.505C= (p.Arg169=)
c.547C= (p.Arg183=)
c.589C= (p.Arg197=)
c.814C= (p.Arg272=)
20g.17498854G>TCA509810143BFSP1c.922C>A (p.Arg308=)
c.505C>A (p.Arg169=)
c.547C>A (p.Arg183=)
c.589C>A (p.Arg197=)
c.814C>A (p.Arg272=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.17498855G>ACA509810144BFSP1c.921C>T (p.Asp307=)
c.504C>T (p.Asp168=)
c.546C>T (p.Asp182=)
c.588C>T (p.Asp196=)
c.813C>T (p.Asp271=)
 gnomAD v4
20g.17498855G>CCA408317223BFSP1c.921C>G (p.Asp307Glu)
c.504C>G (p.Asp168Glu)
c.546C>G (p.Asp182Glu)
c.588C>G (p.Asp196Glu)
c.813C>G (p.Asp271Glu)
20g.17498855G>TCA408317224BFSP1c.921C>A (p.Asp307Glu)
c.504C>A (p.Asp168Glu)
c.546C>A (p.Asp182Glu)
c.588C>A (p.Asp196Glu)
c.813C>A (p.Asp271Glu)
20g.17498856T>ACA408317225BFSP1c.920A>T (p.Asp307Val)
c.503A>T (p.Asp168Val)
c.545A>T (p.Asp182Val)
c.587A>T (p.Asp196Val)
c.812A>T (p.Asp271Val)
20g.17498856T>CCA408317226BFSP1c.920A>G (p.Asp307Gly)
c.503A>G (p.Asp168Gly)
c.545A>G (p.Asp182Gly)
c.587A>G (p.Asp196Gly)
c.812A>G (p.Asp271Gly)
20g.17498856T>GCA408317227BFSP1c.920A>C (p.Asp307Ala)
c.503A>C (p.Asp168Ala)
c.545A>C (p.Asp182Ala)
c.587A>C (p.Asp196Ala)
c.812A>C (p.Asp271Ala)
20g.17498857C>ACA408317228BFSP1c.919G>T (p.Asp307Tyr)
c.502G>T (p.Asp168Tyr)
c.544G>T (p.Asp182Tyr)
c.586G>T (p.Asp196Tyr)
c.811G>T (p.Asp271Tyr)
20g.17498857C>GCA408317230BFSP1c.919G>C (p.Asp307His)
c.502G>C (p.Asp168His)
c.544G>C (p.Asp182His)
c.586G>C (p.Asp196His)
c.811G>C (p.Asp271His)
20g.17498857C>TCA408317229BFSP1c.919G>A (p.Asp307Asn)
c.502G>A (p.Asp168Asn)
c.544G>A (p.Asp182Asn)
c.586G>A (p.Asp196Asn)
c.811G>A (p.Asp271Asn)
20g.17498858C>ACA509810146BFSP1c.918G>T (p.Leu306=)
c.501G>T (p.Leu167=)
c.543G>T (p.Leu181=)
c.585G>T (p.Leu195=)
c.810G>T (p.Leu270=)
20g.17498858C=CA2353084829BFSP1c.918G= (p.Leu306=)
c.501G= (p.Leu167=)
c.543G= (p.Leu181=)
c.585G= (p.Leu195=)
c.810G= (p.Leu270=)
20g.17498858C>GCA509810147BFSP1c.918G>C (p.Leu306=)
c.501G>C (p.Leu167=)
c.543G>C (p.Leu181=)
c.585G>C (p.Leu195=)
c.810G>C (p.Leu270=)
20g.17498858C>TCA9772174BFSP1c.918G>A (p.Leu306=)
c.501G>A (p.Leu167=)
c.543G>A (p.Leu181=)
c.585G>A (p.Leu195=)
c.810G>A (p.Leu270=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.17498859A>CCA408317231BFSP1c.917T>G (p.Leu306Arg)
c.500T>G (p.Leu167Arg)
c.542T>G (p.Leu181Arg)
c.584T>G (p.Leu195Arg)
c.809T>G (p.Leu270Arg)
20g.17498859A>GCA408317232BFSP1c.917T>C (p.Leu306Pro)
c.500T>C (p.Leu167Pro)
c.542T>C (p.Leu181Pro)
c.584T>C (p.Leu195Pro)
c.809T>C (p.Leu270Pro)
 gnomAD v4
20g.17498859A>TCA408317233BFSP1c.917T>A (p.Leu306Gln)
c.500T>A (p.Leu167Gln)
c.542T>A (p.Leu181Gln)
c.584T>A (p.Leu195Gln)
c.809T>A (p.Leu270Gln)
20g.17498860G>ACA9772175BFSP1c.916C>T (p.Leu306=)
c.499C>T (p.Leu167=)
c.541C>T (p.Leu181=)
c.583C>T (p.Leu195=)
c.808C>T (p.Leu270=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
20g.17498860G>CCA408317234BFSP1c.916C>G (p.Leu306Val)
c.499C>G (p.Leu167Val)
c.541C>G (p.Leu181Val)
c.583C>G (p.Leu195Val)
c.808C>G (p.Leu270Val)
20g.17498860G=CA2353084830BFSP1c.916C= (p.Leu306=)
c.499C= (p.Leu167=)
c.541C= (p.Leu181=)
c.583C= (p.Leu195=)
c.808C= (p.Leu270=)
20g.17498860G>TCA408317235BFSP1c.916C>A (p.Leu306Met)
c.499C>A (p.Leu167Met)
c.541C>A (p.Leu181Met)
c.583C>A (p.Leu195Met)
c.808C>A (p.Leu270Met)
20g.17498861C>ACA9772176BFSP1c.915G>T (p.Glu305Asp)
c.498G>T (p.Glu166Asp)
c.540G>T (p.Glu180Asp)
c.582G>T (p.Glu194Asp)
c.807G>T (p.Glu269Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.17498861C=CA2353084831BFSP1c.915G= (p.Glu305=)
c.498G= (p.Glu166=)
c.540G= (p.Glu180=)
c.582G= (p.Glu194=)
c.807G= (p.Glu269=)
20g.17498861C>GCA408317236BFSP1c.915G>C (p.Glu305Asp)
c.498G>C (p.Glu166Asp)
c.540G>C (p.Glu180Asp)
c.582G>C (p.Glu194Asp)
c.807G>C (p.Glu269Asp)
20g.17498861C>TCA509810149BFSP1c.915G>A (p.Glu305=)
c.498G>A (p.Glu166=)
c.540G>A (p.Glu180=)
c.582G>A (p.Glu194=)
c.807G>A (p.Glu269=)
 dbSNP
20g.17498862T>ACA408317237BFSP1c.914A>T (p.Glu305Val)
c.497A>T (p.Glu166Val)
c.539A>T (p.Glu180Val)
c.581A>T (p.Glu194Val)
c.806A>T (p.Glu269Val)
20g.17498862T>CCA408317238BFSP1c.914A>G (p.Glu305Gly)
c.497A>G (p.Glu166Gly)
c.539A>G (p.Glu180Gly)
c.581A>G (p.Glu194Gly)
c.806A>G (p.Glu269Gly)
 dbSNP COSMIC COSMIC
20g.17498862T>GCA408317239BFSP1c.914A>C (p.Glu305Ala)
c.497A>C (p.Glu166Ala)
c.539A>C (p.Glu180Ala)
c.581A>C (p.Glu194Ala)
c.806A>C (p.Glu269Ala)
20g.17498862T=CA2353084832BFSP1c.914A= (p.Glu305=)
c.497A= (p.Glu166=)
c.539A= (p.Glu180=)
c.581A= (p.Glu194=)
c.806A= (p.Glu269=)
20g.17498863C>ACA408317240BFSP1c.913G>T (p.Glu305Ter)
c.496G>T (p.Glu166Ter)
c.538G>T (p.Glu180Ter)
c.580G>T (p.Glu194Ter)
c.805G>T (p.Glu269Ter)
20g.17498863C=CA2353084833BFSP1c.913G= (p.Glu305=)
c.496G= (p.Glu166=)
c.538G= (p.Glu180=)
c.580G= (p.Glu194=)
c.805G= (p.Glu269=)
20g.17498863C>GCA408317241BFSP1c.913G>C (p.Glu305Gln)
c.496G>C (p.Glu166Gln)
c.538G>C (p.Glu180Gln)
c.580G>C (p.Glu194Gln)
c.805G>C (p.Glu269Gln)
 dbSNP
20g.17498863C>TCA408317242BFSP1c.913G>A (p.Glu305Lys)
c.496G>A (p.Glu166Lys)
c.538G>A (p.Glu180Lys)
c.580G>A (p.Glu194Lys)
c.805G>A (p.Glu269Lys)
20g.17498864A>CCA408317243BFSP1c.912T>G (p.Asn304Lys)
c.495T>G (p.Asn165Lys)
c.537T>G (p.Asn179Lys)
c.579T>G (p.Asn193Lys)
c.804T>G (p.Asn268Lys)
 gnomAD v4
20g.17498864A>GCA509810155BFSP1c.912T>C (p.Asn304=)
c.495T>C (p.Asn165=)
c.537T>C (p.Asn179=)
c.579T>C (p.Asn193=)
c.804T>C (p.Asn268=)
20g.17498864A>TCA408317244BFSP1c.912T>A (p.Asn304Lys)
c.495T>A (p.Asn165Lys)
c.537T>A (p.Asn179Lys)
c.579T>A (p.Asn193Lys)
c.804T>A (p.Asn268Lys)
20g.17498865T>ACA408317245BFSP1c.911A>T (p.Asn304Ile)
c.494A>T (p.Asn165Ile)
c.536A>T (p.Asn179Ile)
c.578A>T (p.Asn193Ile)
c.803A>T (p.Asn268Ile)
20g.17498865T>CCA408317246BFSP1c.911A>G (p.Asn304Ser)
c.494A>G (p.Asn165Ser)
c.536A>G (p.Asn179Ser)
c.578A>G (p.Asn193Ser)
c.803A>G (p.Asn268Ser)
20g.17498865T>GCA408317247BFSP1c.911A>C (p.Asn304Thr)
c.494A>C (p.Asn165Thr)
c.536A>C (p.Asn179Thr)
c.578A>C (p.Asn193Thr)
c.803A>C (p.Asn268Thr)
20g.17498866T>ACA408317248BFSP1c.910A>T (p.Asn304Tyr)
c.493A>T (p.Asn165Tyr)
c.535A>T (p.Asn179Tyr)
c.577A>T (p.Asn193Tyr)
c.802A>T (p.Asn268Tyr)
20g.17498866T>CCA9772177BFSP1c.910A>G (p.Asn304Asp)
c.493A>G (p.Asn165Asp)
c.535A>G (p.Asn179Asp)
c.577A>G (p.Asn193Asp)
c.802A>G (p.Asn268Asp)
 dbSNP ExAC gnomAD v2
20g.17498866T>GCA408317249BFSP1c.910A>C (p.Asn304His)
c.493A>C (p.Asn165His)
c.535A>C (p.Asn179His)
c.577A>C (p.Asn193His)
c.802A>C (p.Asn268His)
20g.17498866T=CA2353084834BFSP1c.910A= (p.Asn304=)
c.493A= (p.Asn165=)
c.535A= (p.Asn179=)
c.577A= (p.Asn193=)
c.802A= (p.Asn268=)
20g.17498867C>ACA408317250BFSP1c.909G>T (p.Lys303Asn)
c.492G>T (p.Lys164Asn)
c.534G>T (p.Lys178Asn)
c.576G>T (p.Lys192Asn)
c.801G>T (p.Lys267Asn)
 COSMIC COSMIC
20g.17498867C>GCA408317251BFSP1c.909G>C (p.Lys303Asn)
c.492G>C (p.Lys164Asn)
c.534G>C (p.Lys178Asn)
c.576G>C (p.Lys192Asn)
c.801G>C (p.Lys267Asn)
20g.17498867C>TCA509810158BFSP1c.909G>A (p.Lys303=)
c.492G>A (p.Lys164=)
c.534G>A (p.Lys178=)
c.576G>A (p.Lys192=)
c.801G>A (p.Lys267=)
20g.17498868T>ACA408317252BFSP1c.908A>T (p.Lys303Met)
c.491A>T (p.Lys164Met)
c.533A>T (p.Lys178Met)
c.575A>T (p.Lys192Met)
c.800A>T (p.Lys267Met)
20g.17498868T>CCA408317253BFSP1c.908A>G (p.Lys303Arg)
c.491A>G (p.Lys164Arg)
c.533A>G (p.Lys178Arg)
c.575A>G (p.Lys192Arg)
c.800A>G (p.Lys267Arg)
20g.17498868T>GCA408317254BFSP1c.908A>C (p.Lys303Thr)
c.491A>C (p.Lys164Thr)
c.533A>C (p.Lys178Thr)
c.575A>C (p.Lys192Thr)
c.800A>C (p.Lys267Thr)
20g.17498869T>ACA408317255BFSP1c.907A>T (p.Lys303Ter)
c.490A>T (p.Lys164Ter)
c.532A>T (p.Lys178Ter)
c.574A>T (p.Lys192Ter)
c.799A>T (p.Lys267Ter)
20g.17498869T>CCA408317256BFSP1c.907A>G (p.Lys303Glu)
c.490A>G (p.Lys164Glu)
c.532A>G (p.Lys178Glu)
c.574A>G (p.Lys192Glu)
c.799A>G (p.Lys267Glu)
 dbSNP
20g.17498869T>GCA408317257BFSP1c.907A>C (p.Lys303Gln)
c.490A>C (p.Lys164Gln)
c.532A>C (p.Lys178Gln)
c.574A>C (p.Lys192Gln)
c.799A>C (p.Lys267Gln)
20g.17498869T=CA2353084835BFSP1c.907A= (p.Lys303=)
c.490A= (p.Lys164=)
c.532A= (p.Lys178=)
c.574A= (p.Lys192=)
c.799A= (p.Lys267=)
20g.17498870C>ACA509810160BFSP1c.906G>T (p.Leu302=)
c.489G>T (p.Leu163=)
c.531G>T (p.Leu177=)
c.573G>T (p.Leu191=)
c.798G>T (p.Leu266=)
20g.17498870C>GCA509810161BFSP1c.906G>C (p.Leu302=)
c.489G>C (p.Leu163=)
c.531G>C (p.Leu177=)
c.573G>C (p.Leu191=)
c.798G>C (p.Leu266=)
20g.17498870C>TCA509810162BFSP1c.906G>A (p.Leu302=)
c.489G>A (p.Leu163=)
c.531G>A (p.Leu177=)
c.573G>A (p.Leu191=)
c.798G>A (p.Leu266=)
20g.17498871A>CCA408317258BFSP1c.905T>G (p.Leu302Arg)
c.488T>G (p.Leu163Arg)
c.530T>G (p.Leu177Arg)
c.572T>G (p.Leu191Arg)
c.797T>G (p.Leu266Arg)
20g.17498871A>GCA408317259BFSP1c.905T>C (p.Leu302Pro)
c.488T>C (p.Leu163Pro)
c.530T>C (p.Leu177Pro)
c.572T>C (p.Leu191Pro)
c.797T>C (p.Leu266Pro)
20g.17498871A>TCA408317260BFSP1c.905T>A (p.Leu302Gln)
c.488T>A (p.Leu163Gln)
c.530T>A (p.Leu177Gln)
c.572T>A (p.Leu191Gln)
c.797T>A (p.Leu266Gln)
20g.17498872G>ACA509810163BFSP1c.904C>T (p.Leu302=)
c.487C>T (p.Leu163=)
c.529C>T (p.Leu177=)
c.571C>T (p.Leu191=)
c.796C>T (p.Leu266=)
 gnomAD v4
20g.17498872G>CCA408317261BFSP1c.904C>G (p.Leu302Val)
c.487C>G (p.Leu163Val)
c.529C>G (p.Leu177Val)
c.571C>G (p.Leu191Val)
c.796C>G (p.Leu266Val)
20g.17498872G=CA2353084836BFSP1c.904C= (p.Leu302=)
c.487C= (p.Leu163=)
c.529C= (p.Leu177=)
c.571C= (p.Leu191=)
c.796C= (p.Leu266=)
20g.17498872G>TCA408317262BFSP1c.904C>A (p.Leu302Met)
c.487C>A (p.Leu163Met)
c.529C>A (p.Leu177Met)
c.571C>A (p.Leu191Met)
c.796C>A (p.Leu266Met)
 dbSNP gnomAD v2 gnomAD v4
20g.17498873G>ACA509810164BFSP1c.903C>T (p.Thr301=)
c.486C>T (p.Thr162=)
c.528C>T (p.Thr176=)
c.570C>T (p.Thr190=)
c.795C>T (p.Thr265=)
20g.17498873G>CCA509810167BFSP1c.903C>G (p.Thr301=)
c.486C>G (p.Thr162=)
c.528C>G (p.Thr176=)
c.570C>G (p.Thr190=)
c.795C>G (p.Thr265=)
20g.17498873G>TCA509810166BFSP1c.903C>A (p.Thr301=)
c.486C>A (p.Thr162=)
c.528C>A (p.Thr176=)
c.570C>A (p.Thr190=)
c.795C>A (p.Thr265=)
20g.17498874G>ACA408317263BFSP1c.902C>T (p.Thr301Ile)
c.485C>T (p.Thr162Ile)
c.527C>T (p.Thr176Ile)
c.569C>T (p.Thr190Ile)
c.794C>T (p.Thr265Ile)
 dbSNP gnomAD v2 gnomAD v4
20g.17498874G>CCA408317264BFSP1c.902C>G (p.Thr301Ser)
c.485C>G (p.Thr162Ser)
c.527C>G (p.Thr176Ser)
c.569C>G (p.Thr190Ser)
c.794C>G (p.Thr265Ser)
20g.17498874G=CA2353084837BFSP1c.902C= (p.Thr301=)
c.485C= (p.Thr162=)
c.527C= (p.Thr176=)
c.569C= (p.Thr190=)
c.794C= (p.Thr265=)
20g.17498874G>TCA9772178BFSP1c.902C>A (p.Thr301Asn)
c.485C>A (p.Thr162Asn)
c.527C>A (p.Thr176Asn)
c.569C>A (p.Thr190Asn)
c.794C>A (p.Thr265Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.17498875T>ACA408317265BFSP1c.901A>T (p.Thr301Ser)
c.484A>T (p.Thr162Ser)
c.526A>T (p.Thr176Ser)
c.568A>T (p.Thr190Ser)
c.793A>T (p.Thr265Ser)
20g.17498875T>CCA408317266BFSP1c.901A>G (p.Thr301Ala)
c.484A>G (p.Thr162Ala)
c.526A>G (p.Thr176Ala)
c.568A>G (p.Thr190Ala)
c.793A>G (p.Thr265Ala)
20g.17498875T>GCA408317267BFSP1c.901A>C (p.Thr301Pro)
c.484A>C (p.Thr162Pro)
c.526A>C (p.Thr176Pro)
c.568A>C (p.Thr190Pro)
c.793A>C (p.Thr265Pro)
20g.17498876T>ACA408317268BFSP1c.900A>T (p.Gln300His)
c.483A>T (p.Gln161His)
c.525A>T (p.Gln175His)
c.567A>T (p.Gln189His)
c.792A>T (p.Gln264His)
20g.17498876T>CCA509810169BFSP1c.900A>G (p.Gln300=)
c.483A>G (p.Gln161=)
c.525A>G (p.Gln175=)
c.567A>G (p.Gln189=)
c.792A>G (p.Gln264=)
 gnomAD v4
20g.17498876T>GCA408317269BFSP1c.900A>C (p.Gln300His)
c.483A>C (p.Gln161His)
c.525A>C (p.Gln175His)
c.567A>C (p.Gln189His)
c.792A>C (p.Gln264His)
20g.17498877T>ACA408317270BFSP1c.899A>T (p.Gln300Leu)
c.482A>T (p.Gln161Leu)
c.524A>T (p.Gln175Leu)
c.566A>T (p.Gln189Leu)
c.791A>T (p.Gln264Leu)
20g.17498877T>CCA408317271BFSP1c.899A>G (p.Gln300Arg)
c.482A>G (p.Gln161Arg)
c.524A>G (p.Gln175Arg)
c.566A>G (p.Gln189Arg)
c.791A>G (p.Gln264Arg)
20g.17498877T>GCA408317272BFSP1c.899A>C (p.Gln300Pro)
c.482A>C (p.Gln161Pro)
c.524A>C (p.Gln175Pro)
c.566A>C (p.Gln189Pro)
c.791A>C (p.Gln264Pro)

Number of alleles fetched