Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.127823973_127830053delCA1139661202ENGc.-327-226_588+331del
c.220-226_1134+331del
 ClinVar
9g.127823973_127830815delCA1139661203ENGc.-327-988_588+331del
c.220-988_1134+331del
 ClinVar
9g.127824679_127826283delCA1139661205ENGc.-24+229_445+123del
c.523+229_991+123del
 ClinVar
9g.127824681_127830056delCA1139661206ENGc.-327-225_445+123del
c.220-225_991+123del
 ClinVar
9g.127824706_127824713delCA2579461267ENGc.445+87_445+94del (n.445+87_445+94del)
c.991+87_991+94del (n.991+87_991+94del)
9g.127824709_127824895delinsGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGACA1879973147ENGc.350_445+91delinsTCCTGGGGGAGGCCCGGATGCTCAATGCCAGCATTGTGGCATCCTTCGTGGAGCTACCGCTGGCCAGCATTGTCTCACTTCATGCCTCCAGCTGCGGTGAGCACCCTTCCCCTGCCCCTCCCTTCCCTTCCCCTCCCTTGGATCAGTGGCCACACTGTTGGTGAAGCACCTCTGTGTGAGCTTGGGC
c.896_991+91delinsTCCTGGGGGAGGCCCGGATGCTCAATGCCAGCATTGTGGCATCCTTCGTGGAGCTACCGCTGGCCAGCATTGTCTCACTTCATGCCTCCAGCTGCGGTGAGCACCCTTCCCCTGCCCCTCCCTTCCCTTCCCCTCCCTTGGATCAGTGGCCACACTGTTGGTGAAGCACCTCTGTGTGAGCTTGGGC
9g.127824710_127824895delCA658797291ENGc.350_445+90del
c.896_991+90del
 ClinVar dbSNP
9g.127824711C>TCA2691808415ENGc.445+89G>A (n.445+89G>A)
c.991+89G>A (n.991+89G>A)
 gnomAD v4
9g.127824712C=CA1879973151ENGc.445+88G= (n.445+88G=)
c.991+88G= (n.991+88G=)
9g.127824712C>GCA860196688ENGc.445+88G>C (n.445+88G>C)
c.991+88G>C (n.991+88G>C)
 dbSNP gnomAD v3 gnomAD v4
9g.127824713A>TCA2691808416ENGc.445+87T>A (n.445+87T>A)
c.991+87T>A (n.991+87T>A)
 gnomAD v4
9g.127824714A=CA1879973157ENGc.445+86T= (n.445+86T=)
c.991+86T= (n.991+86T=)
9g.127824714A>CCA200312864ENGc.445+86T>G (n.445+86T>G)
c.991+86T>G (n.991+86T>G)
 dbSNP gnomAD v4
9g.127824714A>GCA200312866ENGc.445+86T>C (n.445+86T>C)
c.991+86T>C (n.991+86T>C)
 dbSNP gnomAD v4
9g.127824714_127824715insTCA653542272ENGc.445+85_445+86insA (n.445+85_445+86insA)
c.991+85_991+86insA (n.991+85_991+86insA)
 COSMIC
9g.127824715G>ACA590939441ENGc.445+85C>T (n.445+85C>T)
c.991+85C>T (n.991+85C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127824715G=CA1879973162ENGc.445+85C= (n.445+85C=)
c.991+85C= (n.991+85C=)
9g.127824715G>TCA2691808417ENGc.445+85C>A (n.445+85C>A)
c.991+85C>A (n.991+85C>A)
 gnomAD v4
9g.127824716C>TCA2785996439ENGc.445+84G>A (n.445+84G>A)
c.991+84G>A (n.991+84G>A)
9g.127824718C>TCA2785996440ENGc.445+82G>A (n.445+82G>A)
c.991+82G>A (n.991+82G>A)
9g.127824720C>ACA2691808418ENGc.445+80G>T (n.445+80G>T)
c.991+80G>T (n.991+80G>T)
 gnomAD v4
9g.127824720C>TCA2579461268ENGc.445+80G>A (n.445+80G>A)
c.991+80G>A (n.991+80G>A)
 gnomAD v4
9g.127824722C>ACA2691808419ENGc.445+78G>T (n.445+78G>T)
c.991+78G>T (n.991+78G>T)
 gnomAD v4
9g.127824722C=CA1879973165ENGc.445+78G= (n.445+78G=)
c.991+78G= (n.991+78G=)
9g.127824722C>GCA2691808420ENGc.445+78G>C (n.445+78G>C)
c.991+78G>C (n.991+78G>C)
 gnomAD v4
9g.127824722C>TCA200312874ENGc.445+78G>A (n.445+78G>A)
c.991+78G>A (n.991+78G>A)
 dbSNP gnomAD v3 gnomAD v4
9g.127824723dupCA200312877ENGc.445+77dup (n.445+77dup)
c.991+77dup (n.991+77dup)
 dbSNP gnomAD v3 gnomAD v4
9g.127824724G>CCA2691808421ENGc.445+76C>G (n.445+76C>G)
c.991+76C>G (n.991+76C>G)
 gnomAD v4
9g.127824724G>TCA2691808422ENGc.445+76C>A (n.445+76C>A)
c.991+76C>A (n.991+76C>A)
 gnomAD v4
9g.127824726G>ACA2691808423ENGc.445+74C>T (n.445+74C>T)
c.991+74C>T (n.991+74C>T)
 gnomAD v4
9g.127824726G>TCA2691808424ENGc.445+74C>A (n.445+74C>A)
c.991+74C>A (n.991+74C>A)
 gnomAD v4
9g.127824727G>ACA2785996441ENGc.445+73C>T (n.445+73C>T)
c.991+73C>T (n.991+73C>T)
9g.127824727G=CA1879973173ENGc.445+73C= (n.445+73C=)
c.991+73C= (n.991+73C=)
9g.127824727G>TCA200312880ENGc.445+73C>A (n.445+73C>A)
c.991+73C>A (n.991+73C>A)
 dbSNP gnomAD v3 gnomAD v4
9g.127824728T>CCA2691808425ENGc.445+72A>G (n.445+72A>G)
c.991+72A>G (n.991+72A>G)
 gnomAD v4
9g.127824728T>GCA1879973179ENGc.445+72A>C (n.445+72A>C)
c.991+72A>C (n.991+72A>C)
 dbSNP gnomAD v4
9g.127824728T=CA1879973178ENGc.445+72A= (n.445+72A=)
c.991+72A= (n.991+72A=)
9g.127824729G>ACA2691808426ENGc.445+71C>T (n.445+71C>T)
c.991+71C>T (n.991+71C>T)
 gnomAD v4
9g.127824729G>TCA2691808427ENGc.445+71C>A (n.445+71C>A)
c.991+71C>A (n.991+71C>A)
 gnomAD v4
9g.127824730C>TCA2579461269ENGc.445+70G>A (n.445+70G>A)
c.991+70G>A (n.991+70G>A)
 gnomAD v4
9g.127824731T>CCA2691808428ENGc.445+69A>G (n.445+69A>G)
c.991+69A>G (n.991+69A>G)
 gnomAD v4
9g.127824731T>GCA860196696ENGc.445+69A>C (n.445+69A>C)
c.991+69A>C (n.991+69A>C)
 dbSNP gnomAD v3 gnomAD v4
9g.127824731T=CA1879973182ENGc.445+69A= (n.445+69A=)
c.991+69A= (n.991+69A=)
9g.127824732T>CCA860196698ENGc.445+68A>G (n.445+68A>G)
c.991+68A>G (n.991+68A>G)
 dbSNP gnomAD v3 gnomAD v4
9g.127824732T=CA1879973185ENGc.445+68A= (n.445+68A=)
c.991+68A= (n.991+68A=)
9g.127824733C>ACA2691808431ENGc.445+67G>T (n.445+67G>T)
c.991+67G>T (n.991+67G>T)
 gnomAD v4
9g.127824733C>GCA2691808430ENGc.445+67G>C (n.445+67G>C)
c.991+67G>C (n.991+67G>C)
 gnomAD v4
9g.127824735_127824737delCA2691808429ENGc.445+65_445+67del (n.445+65_445+67del)
c.991+65_991+67del (n.991+65_991+67del)
 gnomAD v4
9g.127824735C>ACA2691808433ENGc.445+65G>T (n.445+65G>T)
c.991+65G>T (n.991+65G>T)
 gnomAD v4
9g.127824735C>TCA2691808434ENGc.445+65G>A (n.445+65G>A)
c.991+65G>A (n.991+65G>A)
 dbSNP gnomAD v4
9g.127824736dupCA2691808432ENGc.445+65dup (n.445+65dup)
c.991+65dup (n.991+65dup)
 dbSNP gnomAD v4
9g.127824736C>ACA2691808435ENGc.445+64G>T (n.445+64G>T)
c.991+64G>T (n.991+64G>T)
 gnomAD v4
9g.127824736C>TCA2691808436ENGc.445+64G>A (n.445+64G>A)
c.991+64G>A (n.991+64G>A)
 gnomAD v4
9g.127824737_127824739delinsAACCA1879973188ENGc.445+61_445+63delinsGTT (n.445+61_445+63delinsGTT)
c.991+61_991+63delinsGTT (n.991+61_991+63delinsGTT)
9g.127824738A>CCA2579461270ENGc.445+62T>G (n.445+62T>G)
c.991+62T>G (n.991+62T>G)
9g.127824739_127824740delCA200312883ENGc.445+61_445+62del (n.445+61_445+62del)
c.991+61_991+62del (n.991+61_991+62del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127824739C>ACA2691808437ENGc.445+61G>T (n.445+61G>T)
c.991+61G>T (n.991+61G>T)
 gnomAD v4
9g.127824739C=CA1879973189ENGc.445+61G= (n.445+61G=)
c.991+61G= (n.991+61G=)
9g.127824739C>GCA2691808438ENGc.445+61G>C (n.445+61G>C)
c.991+61G>C (n.991+61G>C)
 gnomAD v4
9g.127824739C>TCA1879973190ENGc.445+61G>A (n.445+61G>A)
c.991+61G>A (n.991+61G>A)
 dbSNP gnomAD v3 gnomAD v4
9g.127824740A>GCA2691808439ENGc.445+60T>C (n.445+60T>C)
c.991+60T>C (n.991+60T>C)
 gnomAD v4
9g.127824740A>TCA2691808440ENGc.445+60T>A (n.445+60T>A)
c.991+60T>A (n.991+60T>A)
 gnomAD v4
9g.127824740_127824742delinsAGTCA1879973192ENGc.445+58_445+60delinsACT (n.445+58_445+60delinsACT)
c.991+58_991+60delinsACT (n.991+58_991+60delinsACT)
9g.127824741G>ACA2691808442ENGc.445+59C>T (n.445+59C>T)
c.991+59C>T (n.991+59C>T)
 gnomAD v4
9g.127824741G>TCA2691808441ENGc.445+59C>A (n.445+59C>A)
c.991+59C>A (n.991+59C>A)
 gnomAD v4
9g.127824744_127824745delCA1879973195ENGc.445+58_445+59del (n.445+58_445+59del)
c.991+58_991+59del (n.991+58_991+59del)
 dbSNP gnomAD v4
9g.127824742T>ACA200312886ENGc.445+58A>T (n.445+58A>T)
c.991+58A>T (n.991+58A>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127824742T>GCA2691808443ENGc.445+58A>C (n.445+58A>C)
c.991+58A>C (n.991+58A>C)
 gnomAD v4
9g.127824742T=CA1879973198ENGc.445+58A= (n.445+58A=)
c.991+58A= (n.991+58A=)
9g.127824743G>ACA2579461271ENGc.445+57C>T (n.445+57C>T)
c.991+57C>T (n.991+57C>T)
 gnomAD v4
9g.127824743G>TCA2691808444ENGc.445+57C>A (n.445+57C>A)
c.991+57C>A (n.991+57C>A)
 gnomAD v4
9g.127824744T>CCA860196704ENGc.445+56A>G (n.445+56A>G)
c.991+56A>G (n.991+56A>G)
 dbSNP gnomAD v4
9g.127824744T>GCA1129279537ENGc.445+56A>C (n.445+56A>C)
c.991+56A>C (n.991+56A>C)
 gnomAD v3 gnomAD v4
9g.127824744T=CA1879973201ENGc.445+56A= (n.445+56A=)
c.991+56A= (n.991+56A=)
9g.127824745G>ACA200312889ENGc.445+55C>T (n.445+55C>T)
c.991+55C>T (n.991+55C>T)
 dbSNP gnomAD v4
9g.127824745G=CA1879973202ENGc.445+55C= (n.445+55C=)
c.991+55C= (n.991+55C=)
9g.127824745G>TCA2691808445ENGc.445+55C>A (n.445+55C>A)
c.991+55C>A (n.991+55C>A)
 gnomAD v4
9g.127824746G>TCA2691808446ENGc.445+54C>A (n.445+54C>A)
c.991+54C>A (n.991+54C>A)
 gnomAD v4
9g.127824747C>ACA2691808447ENGc.445+53G>T (n.445+53G>T)
c.991+53G>T (n.991+53G>T)
 gnomAD v4
9g.127824748C>ACA2691808448ENGc.445+52G>T (n.445+52G>T)
c.991+52G>T (n.991+52G>T)
 gnomAD v4
9g.127824748C>TCA2691808449ENGc.445+52G>A (n.445+52G>A)
c.991+52G>A (n.991+52G>A)
 gnomAD v4
9g.127824749A=CA1879973205ENGc.445+51T= (n.445+51T=)
c.991+51T= (n.991+51T=)
9g.127824749A>GCA5252911ENGc.445+51T>C (n.445+51T>C)
c.991+51T>C (n.991+51T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.127824749_127824750delinsACCA1879973206ENGc.445+50_445+51delinsGT (n.445+50_445+51delinsGT)
c.991+50_991+51delinsGT (n.991+50_991+51delinsGT)
9g.127824750delCA1879973207ENGc.445+50del (n.445+50del)
c.991+50del (n.991+50del)
 dbSNP
9g.127824750C>TCA2691808450ENGc.445+50G>A (n.445+50G>A)
c.991+50G>A (n.991+50G>A)
 gnomAD v4
9g.127824751T>CCA2691808451ENGc.445+49A>G (n.445+49A>G)
c.991+49A>G (n.991+49A>G)
 gnomAD v4
9g.127824751T>GCA2785996446ENGc.445+49A>C (n.445+49A>C)
c.991+49A>C (n.991+49A>C)
9g.127824752G>ACA2691808452ENGc.445+48C>T (n.445+48C>T)
c.991+48C>T (n.991+48C>T)
 gnomAD v4
9g.127824752G>TCA2691808453ENGc.445+48C>A (n.445+48C>A)
c.991+48C>A (n.991+48C>A)
 gnomAD v4
9g.127824753A>GCA2691808454ENGc.445+47T>C (n.445+47T>C)
c.991+47T>C (n.991+47T>C)
 gnomAD v4
9g.127824754T>ACA2691808455ENGc.445+46A>T (n.445+46A>T)
c.991+46A>T (n.991+46A>T)
 gnomAD v4
9g.127824755C>ACA2691808456ENGc.445+45G>T (n.445+45G>T)
c.991+45G>T (n.991+45G>T)
 gnomAD v4
9g.127824755C=CA1879973210ENGc.445+45G= (n.445+45G=)
c.991+45G= (n.991+45G=)
9g.127824755C>GCA2691808457ENGc.445+45G>C (n.445+45G>C)
c.991+45G>C (n.991+45G>C)
 gnomAD v4
9g.127824755C>TCA860196709ENGc.445+45G>A (n.445+45G>A)
c.991+45G>A (n.991+45G>A)
 dbSNP gnomAD v3 gnomAD v4
9g.127824756C>ACA2691808458ENGc.445+44G>T (n.445+44G>T)
c.991+44G>T (n.991+44G>T)
 gnomAD v4
9g.127824756C=CA1879973211ENGc.445+44G= (n.445+44G=)
c.991+44G= (n.991+44G=)
9g.127824756C>TCA1129279540ENGc.445+44G>A (n.445+44G>A)
c.991+44G>A (n.991+44G>A)
 dbSNP gnomAD v3 gnomAD v4
9g.127824757A=CA1879973212ENGc.445+43T= (n.445+43T=)
c.991+43T= (n.991+43T=)
9g.127824757A>GCA2691808459ENGc.445+43T>C (n.445+43T>C)
c.991+43T>C (n.991+43T>C)
 gnomAD v4
9g.127824767_127824781dupCA1129279541ENGc.445+29_445+43dup (n.445+29_445+43dup)
c.991+29_991+43dup (n.991+29_991+43dup)
 dbSNP gnomAD v3 gnomAD v4
9g.127824758A=CA1879973216ENGc.445+42T= (n.445+42T=)
c.991+42T= (n.991+42T=)
9g.127824758A>CCA2691808460ENGc.445+42T>G (n.445+42T>G)
c.991+42T>G (n.991+42T>G)
 gnomAD v4
9g.127824758A>GCA590939442ENGc.445+42T>C (n.445+42T>C)
c.991+42T>C (n.991+42T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127824758_127824778dupCA5252912ENGc.445+22_445+42dup (n.445+22_445+42dup)
c.991+22_991+42dup (n.991+22_991+42dup)
 dbSNP ExAC
9g.127824759G>CCA2691808463ENGc.445+41C>G (n.445+41C>G)
c.991+41C>G (n.991+41C>G)
 gnomAD v4
9g.127824759G>TCA2691808462ENGc.445+41C>A (n.445+41C>A)
c.991+41C>A (n.991+41C>A)
 gnomAD v4
9g.127824761_127824762insGGGGGCA2785996447ENGc.445+41_445+42insCCCCC (n.445+41_445+42insCCCCC)
c.991+41_991+42insCCCCC (n.991+41_991+42insCCCCC)
9g.127824761delCA2691808461ENGc.445+41del (n.445+41del)
c.991+41del (n.991+41del)
 gnomAD v4
9g.127824763_127824767dupCA5252913ENGc.445+37_445+41dup (n.445+37_445+41dup)
c.991+37_991+41dup (n.991+37_991+41dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.127824761_127824781dupCA2691808464ENGc.445+21_445+41dup (n.445+21_445+41dup)
c.991+21_991+41dup (n.991+21_991+41dup)
 gnomAD v4
9g.127824760G>ACA2691808465ENGc.445+40C>T (n.445+40C>T)
c.991+40C>T (n.991+40C>T)
 gnomAD v4
9g.127824760G=CA1879973217ENGc.445+40C= (n.445+40C=)
c.991+40C= (n.991+40C=)
9g.127824760G>TCA590939443ENGc.445+40C>A (n.445+40C>A)
c.991+40C>A (n.991+40C>A)
 dbSNP gnomAD v2 gnomAD v4
9g.127824761G>ACA590939444ENGc.445+39C>T (n.445+39C>T)
c.991+39C>T (n.991+39C>T)
 gnomAD v2 gnomAD v4
9g.127824761G>CCA2579461272ENGc.445+39C>G (n.445+39C>G)
c.991+39C>G (n.991+39C>G)
9g.127824761G>TCA2691808466ENGc.445+39C>A (n.445+39C>A)
c.991+39C>A (n.991+39C>A)
 gnomAD v4
9g.127824761_127824782delinsGAGGGGAAGGGAAGGGAGGGGCCA1879973219ENGc.445+18_445+39delinsGCCCCTCCCTTCCCTTCCCCTC (n.445+18_445+39delinsGCCCCTCCCTTCCCTTCCCCTC)
c.991+18_991+39delinsGCCCCTCCCTTCCCTTCCCCTC (n.991+18_991+39delinsGCCCCTCCCTTCCCTTCCCCTC)
9g.127824762A=CA1879973224ENGc.445+38T= (n.445+38T=)
c.991+38T= (n.991+38T=)
9g.127824762A>CCA200312914ENGc.445+38T>G (n.445+38T>G)
c.991+38T>G (n.991+38T>G)
 dbSNP gnomAD v3 gnomAD v4
9g.127824762A>GCA1129279543ENGc.445+38T>C (n.445+38T>C)
c.991+38T>C (n.991+38T>C)
 gnomAD v3 gnomAD v4
9g.127824762A>TCA2691808467ENGc.445+38T>A (n.445+38T>A)
c.991+38T>A (n.991+38T>A)
 gnomAD v4
9g.127824772_127824792dupCA5252915ENGc.445+18_445+38dup (n.445+18_445+38dup)
c.991+18_991+38dup (n.991+18_991+38dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127824772_127824792delCA5252914ENGc.445+18_445+38del (n.445+18_445+38del)
c.991+18_991+38del (n.991+18_991+38del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127824763G>ACA5252917ENGc.445+37C>T (n.445+37C>T)
c.991+37C>T (n.991+37C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.127824763G=CA1879973230ENGc.445+37C= (n.445+37C=)
c.991+37C= (n.991+37C=)
9g.127824763G>TCA5252916ENGc.445+37C>A (n.445+37C>A)
c.991+37C>A (n.991+37C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127824766delCA2691808468ENGc.445+37del (n.445+37del)
c.991+37del (n.991+37del)
 gnomAD v4
9g.127824764G>ACA5252919ENGc.445+36C>T (n.445+36C>T)
c.991+36C>T (n.991+36C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127824764G=CA1879973235ENGc.445+36C= (n.445+36C=)
c.991+36C= (n.991+36C=)
9g.127824764G>TCA2691808469ENGc.445+36C>A (n.445+36C>A)
c.991+36C>A (n.991+36C>A)
 gnomAD v4
9g.127824773_127824777dupCA5252918ENGc.445+32_445+36dup (n.445+32_445+36dup)
c.991+32_991+36dup (n.991+32_991+36dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127824773_127824777delCA2691808470ENGc.445+32_445+36del (n.445+32_445+36del)
c.991+32_991+36del (n.991+32_991+36del)
 gnomAD v4
9g.127824765G>ACA1879973242ENGc.445+35C>T (n.445+35C>T)
c.991+35C>T (n.991+35C>T)
 dbSNP gnomAD v4
9g.127824765G=CA1879973240ENGc.445+35C= (n.445+35C=)
c.991+35C= (n.991+35C=)
9g.127824765G>TCA1129279544ENGc.445+35C>A (n.445+35C>A)
c.991+35C>A (n.991+35C>A)
 dbSNP gnomAD v3 gnomAD v4
9g.127824767_127824775delCA2691808472ENGc.445+27_445+35del (n.445+27_445+35del)
c.991+27_991+35del (n.991+27_991+35del)
 gnomAD v4
9g.127824766G>ACA590939445ENGc.445+34C>T (n.445+34C>T)
c.991+34C>T (n.991+34C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127824766G=CA1879973244ENGc.445+34C= (n.445+34C=)
c.991+34C= (n.991+34C=)
9g.127824766G>TCA2569554886ENGc.445+34C>A (n.445+34C>A)
c.991+34C>A (n.991+34C>A)
 gnomAD v4
9g.127824766_127824767delinsGACA1879973245ENGc.445+33_445+34delinsTC (n.445+33_445+34delinsTC)
c.991+33_991+34delinsTC (n.991+33_991+34delinsTC)
9g.127824767A>CCA2691808473ENGc.445+33T>G (n.445+33T>G)
c.991+33T>G (n.991+33T>G)
 gnomAD v4
9g.127824768delCA1879973247ENGc.445+33del (n.445+33del)
c.991+33del (n.991+33del)
 dbSNP gnomAD v4
9g.127824768A=CA1879973248ENGc.445+32T= (n.445+32T=)
c.991+32T= (n.991+32T=)
9g.127824768A>CCA2579461273ENGc.445+32T>G (n.445+32T>G)
c.991+32T>G (n.991+32T>G)
 dbSNP gnomAD v3 gnomAD v4
9g.127824768A>GCA5252920ENGc.445+32T>C (n.445+32T>C)
c.991+32T>C (n.991+32T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127824768A>TCA2691808474ENGc.445+32T>A (n.445+32T>A)
c.991+32T>A (n.991+32T>A)
 gnomAD v4
9g.127824769G>ACA2691808475ENGc.445+31C>T (n.445+31C>T)
c.991+31C>T (n.991+31C>T)
 gnomAD v4
9g.127824769G>TCA2691808476ENGc.445+31C>A (n.445+31C>A)
c.991+31C>A (n.991+31C>A)
 gnomAD v4
9g.127824770G>ACA590939446ENGc.445+30C>T (n.445+30C>T)
c.991+30C>T (n.991+30C>T)
 dbSNP gnomAD v2 gnomAD v4
9g.127824770G>CCA5252921ENGc.445+30C>G (n.445+30C>G)
c.991+30C>G (n.991+30C>G)
 dbSNP ExAC
9g.127824770G=CA1879973252ENGc.445+30C= (n.445+30C=)
c.991+30C= (n.991+30C=)
9g.127824770G>TCA2691808477ENGc.445+30C>A (n.445+30C>A)
c.991+30C>A (n.991+30C>A)
 gnomAD v4
9g.127824771G>TCA2691808478ENGc.445+29C>A (n.445+29C>A)
c.991+29C>A (n.991+29C>A)
 gnomAD v4
9g.127824772A=CA1879973254ENGc.445+28T= (n.445+28T=)
c.991+28T= (n.991+28T=)
9g.127824772A>CCA1129279547ENGc.445+28T>G (n.445+28T>G)
c.991+28T>G (n.991+28T>G)
 gnomAD v3 gnomAD v4
9g.127824772A>GCA2691808479ENGc.445+28T>C (n.445+28T>C)
c.991+28T>C (n.991+28T>C)
 gnomAD v4
9g.127824772A>TCA590939447ENGc.445+28T>A (n.445+28T>A)
c.991+28T>A (n.991+28T>A)
 dbSNP gnomAD v2 gnomAD v4
9g.127824772_127824773insGCA1129279575ENGc.445+27_445+28insC (n.445+27_445+28insC)
c.991+27_991+28insC (n.991+27_991+28insC)
 dbSNP gnomAD v3 gnomAD v4
9g.127824772_127824773insCGGGCA2691808480ENGc.445+27_445+28insCCCG (n.445+27_445+28insCCCG)
c.991+27_991+28insCCCG (n.991+27_991+28insCCCG)
 dbSNP gnomAD v4
9g.127824772_127824773insGGGGCA1129279565ENGc.445+27_445+28insCCCC (n.445+27_445+28insCCCC)
c.991+27_991+28insCCCC (n.991+27_991+28insCCCC)
 dbSNP gnomAD v3 gnomAD v4
9g.127824772_127824773insTGGGCA2691808481ENGc.445+27_445+28insCCCA (n.445+27_445+28insCCCA)
c.991+27_991+28insCCCA (n.991+27_991+28insCCCA)
 gnomAD v4
9g.127824772_127824773insGGGGGGCA1129279555ENGc.445+27_445+28insCCCCCC (n.445+27_445+28insCCCCCC)
c.991+27_991+28insCCCCCC (n.991+27_991+28insCCCCCC)
 dbSNP gnomAD v3 gnomAD v4
9g.127824772_127824773insTGGGTGCA1879973265ENGc.445+27_445+28insCACCCA (n.445+27_445+28insCACCCA)
c.991+27_991+28insCACCCA (n.991+27_991+28insCACCCA)
 dbSNP
9g.127824773A=CA1879973261ENGc.445+27T= (n.445+27T=)
c.991+27T= (n.991+27T=)
9g.127824773A>GCA200312945ENGc.445+27T>C (n.445+27T>C)
c.991+27T>C (n.991+27T>C)
 dbSNP gnomAD v3 gnomAD v4
9g.127824773_127824779delinsAGGGAGGCA2742038520ENGc.445+21_445+27delinsCCTCCCT (n.445+21_445+27delinsCCTCCCT)
c.991+21_991+27delinsCCTCCCT (n.991+21_991+27delinsCCTCCCT)
9g.127824773_127824774insCGGAGGCA2691808488ENGc.445+26_445+27insCCTCCG (n.445+26_445+27insCCTCCG)
c.991+26_991+27insCCTCCG (n.991+26_991+27insCCTCCG)
 gnomAD v4
9g.127824773_127824774insTGGAGGCA2691808485ENGc.445+26_445+27insCCTCCA (n.445+26_445+27insCCTCCA)
c.991+26_991+27insCCTCCA (n.991+26_991+27insCCTCCA)
 gnomAD v4
9g.127824774G>ACA200312973ENGc.445+26C>T (n.445+26C>T)
c.991+26C>T (n.991+26C>T)
 dbSNP gnomAD v4
9g.127824774G=CA1879973281ENGc.445+26C= (n.445+26C=)
c.991+26C= (n.991+26C=)
9g.127824774G>TCA2691808486ENGc.445+26C>A (n.445+26C>A)
c.991+26C>A (n.991+26C>A)
 gnomAD v4
9g.127824774_127824775insAGAGGGCA1879973284ENGc.445+26_445+27insCCTCTC (n.445+26_445+27insCCTCTC)
c.991+26_991+27insCCTCTC (n.991+26_991+27insCCTCTC)
 dbSNP
9g.127824774_127824775insAGGGGGCA916081554ENGc.445+26_445+27insCCCCTC (n.445+26_445+27insCCCCTC)
c.991+26_991+27insCCCCTC (n.991+26_991+27insCCCCTC)
9g.127824774_127824775insCGAGGGCA2691808489ENGc.445+26_445+27insCCTCGC (n.445+26_445+27insCCTCGC)
c.991+26_991+27insCCTCGC (n.991+26_991+27insCCTCGC)
 gnomAD v4
9g.127824775_127824776insAAGGGGCA5252924ENGc.445+26_445+27insCCTTCC (n.445+26_445+27insCCTTCC)
c.991+26_991+27insCCTTCC (n.991+26_991+27insCCTTCC)
 dbSNP ExAC gnomAD v3 gnomAD v4
9g.127824775_127824776insCAGGGGCA2785996454ENGc.445+26_445+27insCCTGCC (n.445+26_445+27insCCTGCC)
c.991+26_991+27insCCTGCC (n.991+26_991+27insCCTGCC)
9g.127824775_127824776insTAGGGGCA5252923ENGc.445+26_445+27insCCTACC (n.445+26_445+27insCCTACC)
c.991+26_991+27insCCTACC (n.991+26_991+27insCCTACC)
 dbSNP ExAC gnomAD v4
9g.127824776_127824777insCGGGGGCA860196744ENGc.445+26_445+27insCCGCCC (n.445+26_445+27insCCGCCC)
c.991+26_991+27insCCGCCC (n.991+26_991+27insCCGCCC)
 dbSNP
9g.127824776_127824777insGAGGGGCA915947172ENGc.445+26_445+27insCTCCCC (n.445+26_445+27insCTCCCC)
c.991+26_991+27insCTCCCC (n.991+26_991+27insCTCCCC)
9g.127824776_127824777insGGGGGGCA860196752ENGc.445+26_445+27insCCCCCC (n.445+26_445+27insCCCCCC)
c.991+26_991+27insCCCCCC (n.991+26_991+27insCCCCCC)
 dbSNP gnomAD v3 gnomAD v4
9g.127824776_127824777insTGGGGGCA2691808484ENGc.445+26_445+27insCCACCC (n.445+26_445+27insCCACCC)
c.991+26_991+27insCCACCC (n.991+26_991+27insCCACCC)
 gnomAD v4
9g.127824775_127824776dupCA1129279599ENGc.445+25_445+26dup (n.445+25_445+26dup)
c.991+25_991+26dup (n.991+25_991+26dup)
 dbSNP gnomAD v3 gnomAD v4
9g.127824777_127824778insAGGGGACA590939449ENGc.445+26_445+27insCTTCCC (n.445+26_445+27insCTTCCC)
c.991+26_991+27insCTTCCC (n.991+26_991+27insCTTCCC)
 dbSNP gnomAD v2 gnomAD v4
9g.127824777_127824778insTGGGGACA2691808483ENGc.445+26_445+27insCATCCC (n.445+26_445+27insCATCCC)
c.991+26_991+27insCATCCC (n.991+26_991+27insCATCCC)
 gnomAD v4
9g.127824778_127824779insTGGGAGCA2691808482ENGc.445+26_445+27insACTCCC (n.445+26_445+27insACTCCC)
c.991+26_991+27insACTCCC (n.991+26_991+27insACTCCC)
 gnomAD v4
9g.127824781_127824782insGAGGGGGAGGGGCA1129279609ENGc.445+26_445+27insCCTCCCCCTCCC (n.445+26_445+27insCCTCCCCCTCCC)
c.991+26_991+27insCCTCCCCCTCCC (n.991+26_991+27insCCTCCCCCTCCC)
 dbSNP gnomAD v3 gnomAD v4
9g.127824781_127824782insGAGAGGGAGGGGGAGGGGCA2691808490ENGc.445+26_445+27insCCTCCCTCTCCCCCTCCC (n.445+26_445+27insCCTCCCTCTCCCCCTCCC)
c.991+26_991+27insCCTCCCTCTCCCCCTCCC (n.991+26_991+27insCCTCCCTCTCCCCCTCCC)
 gnomAD v4
9g.127824781_127824782insAAGGGAAGGGAGGGGGAGGGGCA2785996455ENGc.445+26_445+27insCCTCCCTTCCCTTCCCCTCCC (n.445+26_445+27insCCTCCCTTCCCTTCCCCTCCC)
c.991+26_991+27insCCTCCCTTCCCTTCCCCTCCC (n.991+26_991+27insCCTCCCTTCCCTTCCCCTCCC)
9g.127824781_127824782insGAGGGGAAGGGAAGGGAGGGGGAGGGGCA1129279606ENGc.445+26_445+27insCCTCCCTTCCCTTCCCCTCCCCCTCCC (n.445+26_445+27insCCTCCCTTCCCTTCCCCTCCCCCTCCC)
c.991+26_991+27insCCTCCCTTCCCTTCCCCTCCCCCTCCC (n.991+26_991+27insCCTCCCTTCCCTTCCCCTCCCCCTCCC)
 dbSNP gnomAD v3 gnomAD v4
9g.127824781_127824782insGAGGGGGAGGGGAAGGGAAGGGAGGGGGAGGGGCA590939448ENGc.445+26_445+27insCCTCCCTTCCCTTCCCCTCCCCCTCCCCCTCCC (n.445+26_445+27insCCTCCCTTCCCTTCCCCTCCCCCTCCCCCTCCC)
c.991+26_991+27insCCTCCCTTCCCTTCCCCTCCCCCTCCCCCTCCC (n.991+26_991+27insCCTCCCTTCCCTTCCCCTCCCCCTCCCCCTCCC)
 gnomAD v2 gnomAD v3 gnomAD v4
9g.127824777_127824781dupCA2691808487ENGc.445+22_445+26dup (n.445+22_445+26dup)
c.991+22_991+26dup (n.991+22_991+26dup)
 gnomAD v4
9g.127824776_127824781dupCA321260ENGc.445+21_445+26dup (n.445+21_445+26dup)
c.991+21_991+26dup (n.991+21_991+26dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127824792_127824793insAGGGGGAGGGGCAGGGGAAGGGCA5252922ENGc.445+26_445+27insCCTCCCTTCCCCTGCCCCTCCC (n.445+26_445+27insCCTCCCTTCCCCTGCCCCTCCC)
c.991+26_991+27insCCTCCCTTCCCCTGCCCCTCCC (n.991+26_991+27insCCTCCCTTCCCCTGCCCCTCCC)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127824775G>ACA2579461276ENGc.445+25C>T (n.445+25C>T)
c.991+25C>T (n.991+25C>T)
9g.127824775G=CA1879973304ENGc.445+25C= (n.445+25C=)
c.991+25C= (n.991+25C=)
9g.127824775G>TCA590939452ENGc.445+25C>A (n.445+25C>A)
c.991+25C>A (n.991+25C>A)
 dbSNP gnomAD v2 gnomAD v4
9g.127824779_127824780insTGGAGGCA590939450ENGc.445+25_445+26insACCTCC (n.445+25_445+26insACCTCC)
c.991+25_991+26insACCTCC (n.991+25_991+26insACCTCC)
 dbSNP gnomAD v2
9g.127824776G>ACA1129279614ENGc.445+24C>T (n.445+24C>T)
c.991+24C>T (n.991+24C>T)
 dbSNP gnomAD v3 gnomAD v4
9g.127824776G=CA1879973307ENGc.445+24C= (n.445+24C=)
c.991+24C= (n.991+24C=)
9g.127824776G>TCA2691808492ENGc.445+24C>A (n.445+24C>A)
c.991+24C>A (n.991+24C>A)
 gnomAD v4
9g.127824777A=CA1879973311ENGc.445+23T= (n.445+23T=)
c.991+23T= (n.991+23T=)
9g.127824777A>GCA860196762ENGc.445+23T>C (n.445+23T>C)
c.991+23T>C (n.991+23T>C)
 dbSNP gnomAD v3 gnomAD v4
9g.127824777A>TCA2691808494ENGc.445+23T>A (n.445+23T>A)
c.991+23T>A (n.991+23T>A)
 gnomAD v4
9g.127824781_127824782insAAGGGGCA2720712143ENGc.445+23_445+24insTCCCCT (n.445+23_445+24insTCCCCT)
c.991+23_991+24insTCCCCT (n.991+23_991+24insTCCCCT)
 dbSNP
9g.127824782_127824787dupCA1879973309ENGc.445+18_445+23dup (n.445+18_445+23dup)
c.991+18_991+23dup (n.991+18_991+23dup)
 dbSNP gnomAD v4
9g.127824778G>ACA2691808498ENGc.445+22C>T (n.445+22C>T)
c.991+22C>T (n.991+22C>T)
 gnomAD v4
9g.127824778G=CA1879973314ENGc.445+22C= (n.445+22C=)
c.991+22C= (n.991+22C=)
9g.127824778G>TCA2691808497ENGc.445+22C>A (n.445+22C>A)
c.991+22C>A (n.991+22C>A)
 gnomAD v4
9g.127824781_127824782insGCGGGGCA2720460371ENGc.445+22_445+23insGCCCCC (n.445+22_445+23insGCCCCC)
c.991+22_991+23insGCCCCC (n.991+22_991+23insGCCCCC)
 dbSNP
9g.127824781_127824782insGGGGGGCA1129279623ENGc.445+22_445+23insCCCCCC (n.445+22_445+23insCCCCCC)
c.991+22_991+23insCCCCCC (n.991+22_991+23insCCCCCC)
 dbSNP gnomAD v3 gnomAD v4
9g.127824779_127824781dupCA5252925ENGc.445+20_445+22dup (n.445+20_445+22dup)
c.991+20_991+22dup (n.991+20_991+22dup)
 dbSNP ExAC gnomAD v4
9g.127824781delCA2691808496ENGc.445+22del (n.445+22del)
c.991+22del (n.991+22del)
 gnomAD v4
9g.127824779G>ACA590939454ENGc.445+21C>T (n.445+21C>T)
c.991+21C>T (n.991+21C>T)
 dbSNP gnomAD v2 gnomAD v4
9g.127824779G=CA1879973319ENGc.445+21C= (n.445+21C=)
c.991+21C= (n.991+21C=)
9g.127824781_127824782insGATGGGCA590939453ENGc.445+21_445+22insATCCCC (n.445+21_445+22insATCCCC)
c.991+21_991+22insATCCCC (n.991+21_991+22insATCCCC)
 dbSNP gnomAD v2
9g.127824780G>ACA2691808501ENGc.445+20C>T (n.445+20C>T)
c.991+20C>T (n.991+20C>T)
 gnomAD v4
9g.127824780G=CA1879973322ENGc.445+20C= (n.445+20C=)
c.991+20C= (n.991+20C=)
9g.127824780G>TCA2691808502ENGc.445+20C>A (n.445+20C>A)
c.991+20C>A (n.991+20C>A)
 gnomAD v4
9g.127824781_127824782insGAGGCA200312985ENGc.445+20_445+21insTCCC (n.445+20_445+21insTCCC)
c.991+20_991+21insTCCC (n.991+20_991+21insTCCC)
 dbSNP
9g.127824781_127824782insGAGAGGCA2691808500ENGc.445+20_445+21insTCTCCC (n.445+20_445+21insTCTCCC)
c.991+20_991+21insTCTCCC (n.991+20_991+21insTCTCCC)
 gnomAD v4
9g.127824781G>ACA2691808506ENGc.445+19C>T (n.445+19C>T)
c.991+19C>T (n.991+19C>T)
 gnomAD v4
9g.127824781G>TCA2691808508ENGc.445+19C>A (n.445+19C>A)
c.991+19C>A (n.991+19C>A)
 gnomAD v4
9g.127824781_127824782insGAGGAGCA590939455ENGc.445+19_445+20insTCCTCC (n.445+19_445+20insTCCTCC)
c.991+19_991+20insTCCTCC (n.991+19_991+20insTCCTCC)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127824781_127824782insGAGGTGCA2720473075ENGc.445+19_445+20insACCTCC (n.445+19_445+20insACCTCC)
c.991+19_991+20insACCTCC (n.991+19_991+20insACCTCC)
 dbSNP
9g.127824782C>ACA590939457ENGc.445+18G>T (n.445+18G>T)
c.991+18G>T (n.991+18G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127824782C=CA1879973324ENGc.445+18G= (n.445+18G=)
c.991+18G= (n.991+18G=)
9g.127824782C>GCA5252926ENGc.445+18G>C (n.445+18G>C)
c.991+18G>C (n.991+18G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.127824782C>TCA1879973325ENGc.445+18G>A (n.445+18G>A)
c.991+18G>A (n.991+18G>A)
 dbSNP gnomAD v4
9g.127824783A>CCA2691808514ENGc.445+17T>G (n.445+17T>G)
c.991+17T>G (n.991+17T>G)
 gnomAD v4
9g.127824783A>GCA2691808515ENGc.445+17T>C (n.445+17T>C)
c.991+17T>C (n.991+17T>C)
 gnomAD v4
9g.127824784G>TCA2691808517ENGc.445+16C>A (n.445+16C>A)
c.991+16C>A (n.991+16C>A)
 gnomAD v4
9g.127824787delCA2691808516ENGc.445+16del (n.445+16del)
c.991+16del (n.991+16del)
 gnomAD v4
9g.127824785G>CCA2691808519ENGc.445+15C>G (n.445+15C>G)
c.991+15C>G (n.991+15C>G)
 gnomAD v4
9g.127824785G>TCA2691808521ENGc.445+15C>A (n.445+15C>A)
c.991+15C>A (n.991+15C>A)
 gnomAD v4
9g.127824787_127824788insCAGGGCA2579461277ENGc.445+15_445+16insTGCCC (n.445+15_445+16insTGCCC)
c.991+15_991+16insTGCCC (n.991+15_991+16insTGCCC)
9g.127824786G>ACA590939458ENGc.445+14C>T (n.445+14C>T)
c.991+14C>T (n.991+14C>T)
 dbSNP gnomAD v2 gnomAD v4
9g.127824786G=CA1879973327ENGc.445+14C= (n.445+14C=)
c.991+14C= (n.991+14C=)
9g.127824786G>TCA590939459ENGc.445+14C>A (n.445+14C>A)
c.991+14C>A (n.991+14C>A)
 dbSNP gnomAD v2 gnomAD v4
9g.127824787G>ACA2691808527ENGc.445+13C>T (n.445+13C>T)
c.991+13C>T (n.991+13C>T)
 gnomAD v4
9g.127824787G>CCA1129279638ENGc.445+13C>G (n.445+13C>G)
c.991+13C>G (n.991+13C>G)
 gnomAD v3 gnomAD v4
9g.127824787G=CA1879973332ENGc.445+13C= (n.445+13C=)
c.991+13C= (n.991+13C=)
9g.127824787G>TCA653542275ENGc.445+13C>A (n.445+13C>A)
c.991+13C>A (n.991+13C>A)
 gnomAD v4 COSMIC
9g.127824788A=CA1879973334ENGc.445+12T= (n.445+12T=)
c.991+12T= (n.991+12T=)
9g.127824788A>CCA200312991ENGc.445+12T>G (n.445+12T>G)
c.991+12T>G (n.991+12T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127824788A>GCA1879973337ENGc.445+12T>C (n.445+12T>C)
c.991+12T>C (n.991+12T>C)
 dbSNP gnomAD v4
9g.127824789dupCA200312987ENGc.445+12dup (n.445+12dup)
c.991+12dup (n.991+12dup)
 dbSNP
9g.127824789delCA2691808531ENGc.445+12del (n.445+12del)
c.991+12del (n.991+12del)
 gnomAD v4
9g.127824789A>CCA1129279644ENGc.445+11T>G (n.445+11T>G)
c.991+11T>G (n.991+11T>G)
 gnomAD v3 gnomAD v4
9g.127824789A>GCA2691808532ENGc.445+11T>C (n.445+11T>C)
c.991+11T>C (n.991+11T>C)
 gnomAD v4
9g.127824790G>ACA860196789ENGc.445+10C>T (n.445+10C>T)
c.991+10C>T (n.991+10C>T)
 dbSNP gnomAD v3 gnomAD v4
9g.127824790G=CA1879973338ENGc.445+10C= (n.445+10C=)
c.991+10C= (n.991+10C=)
9g.127824790G>TCA2691808534ENGc.445+10C>A (n.445+10C>A)
c.991+10C>A (n.991+10C>A)
 gnomAD v4
9g.127824791G>ACA590939461ENGc.445+9C>T (n.445+9C>T)
c.991+9C>T (n.991+9C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127824791G=CA1879973341ENGc.445+9C= (n.445+9C=)
c.991+9C= (n.991+9C=)
9g.127824791G>TCA2691808537ENGc.445+9C>A (n.445+9C>A)
c.991+9C>A (n.991+9C>A)
 gnomAD v4
9g.127824792G>TCA2499219639ENGc.445+8C>A (n.445+8C>A)
c.991+8C>A (n.991+8C>A)
 ClinVar dbSNP gnomAD v4
9g.127824793T>ACA2691808545ENGc.445+7A>T (n.445+7A>T)
c.991+7A>T (n.991+7A>T)
 gnomAD v4
9g.127824793T>CCA200312999ENGc.445+7A>G (n.445+7A>G)
c.991+7A>G (n.991+7A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127824793T>GCA590939462ENGc.445+7A>C (n.445+7A>C)
c.991+7A>C (n.991+7A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127824793T=CA1879973343ENGc.445+7A= (n.445+7A=)
c.991+7A= (n.991+7A=)
9g.127824794G>ACA2691808554ENGc.445+6C>T (n.445+6C>T)
c.991+6C>T (n.991+6C>T)
 gnomAD v4
9g.127824795C>ACA2691808556ENGc.445+5G>T (n.445+5G>T)
c.991+5G>T (n.991+5G>T)
 gnomAD v4
9g.127824795C>TCA2691808558ENGc.445+5G>A (n.445+5G>A)
c.991+5G>A (n.991+5G>A)
 gnomAD v4
9g.127824796T>ACA2691808560ENGc.445+4A>T (n.445+4A>T)
c.991+4A>T (n.991+4A>T)
 gnomAD v4
9g.127824796T>CCA2573143993ENGc.445+4A>G (n.445+4A>G)
c.991+4A>G (n.991+4A>G)
 ClinVar dbSNP
9g.127824797C>ACA2691808563ENGc.445+3G>T (n.445+3G>T)
c.991+3G>T (n.991+3G>T)
 gnomAD v4
9g.127824797C=CA1879973346ENGc.445+3G= (n.445+3G=)
c.991+3G= (n.991+3G=)
9g.127824797C>TCA5252927ENGc.445+3G>A (n.445+3G>A)
c.991+3G>A (n.991+3G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.127824798A=CA1879973357ENGc.445+2T= (n.445+2T=)
c.991+2T= (n.991+2T=)
9g.127824798A>CCA374981834ENGc.445+2T>G (n.445+2T>G)
c.991+2T>G (n.991+2T>G)
 ClinVar dbSNP
9g.127824798A>GCA374981837ENGc.445+2T>C (n.445+2T>C)
c.991+2T>C (n.991+2T>C)
 ClinVar dbSNP
9g.127824798A>TCA374981840ENGc.445+2T>A (n.445+2T>A)
c.991+2T>A (n.991+2T>A)
 ClinVar
9g.127824799C>ACA374981851ENGc.445+1G>T (n.445+1G>T)
c.991+1G>T (n.991+1G>T)
 gnomAD v4
9g.127824799C>GCA374981852ENGc.445+1G>C (n.445+1G>C)
c.991+1G>C (n.991+1G>C)
 ClinVar
9g.127824799C>TCA374981854ENGc.445+1G>A (n.445+1G>A)
c.991+1G>A (n.991+1G>A)
9g.127824800delCA2739265075ENGc.445+1del
c.991+1del
 ClinVar
9g.127824800C>ACA374981858ENGc.445G>T (p.Gly149Cys)
c.991G>T (p.Gly331Cys)
 gnomAD v4
9g.127824800C=CA1879973363ENGc.445G= (p.Gly149=)
c.991G= (p.Gly331=)
9g.127824800C>GCA374981859ENGc.445G>C (p.Gly149Arg)
c.991G>C (p.Gly331Arg)
9g.127824800C>TCA16612528ENGc.445G>A (p.Gly149Ser)
c.991G>A (p.Gly331Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
9g.127824801delCA2695211246ENGc.444del (p.Cys148TrpfsTer29)
c.990del (p.Cys330TrpfsTer29)
9g.127824801G>ACA5252928ENGc.444C>T (p.Cys148=)
c.990C>T (p.Cys330=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127824801G>CCA374981862ENGc.444C>G (p.Cys148Trp)
c.990C>G (p.Cys330Trp)
9g.127824801G=CA1879973371ENGc.444C= (p.Cys148=)
c.990C= (p.Cys330=)
9g.127824801G>TCA374981863ENGc.444C>A (p.Cys148Ter)
c.990C>A (p.Cys330Ter)
 ClinVar
9g.127824802C>ACA374981865ENGc.443G>T (p.Cys148Phe)
c.989G>T (p.Cys330Phe)
 ClinVar
9g.127824802C>GCA374981872ENGc.443G>C (p.Cys148Ser)
c.989G>C (p.Cys330Ser)
9g.127824802C>TCA374981876ENGc.443G>A (p.Cys148Tyr)
c.989G>A (p.Cys330Tyr)
 gnomAD v4
9g.127824803A>CCA374981880ENGc.442T>G (p.Cys148Gly)
c.988T>G (p.Cys330Gly)
9g.127824803A>GCA374981878ENGc.442T>C (p.Cys148Arg)
c.988T>C (p.Cys330Arg)
 gnomAD v4
9g.127824803A>TCA374981879ENGc.442T>A (p.Cys148Ser)
c.988T>A (p.Cys330Ser)
9g.127824804G>ACA467230892ENGc.441C>T (p.Ser147=)
c.987C>T (p.Ser329=)
9g.127824804G>CCA374981881ENGc.441C>G (p.Ser147Arg)
c.987C>G (p.Ser329Arg)
9g.127824804G>TCA374981882ENGc.441C>A (p.Ser147Arg)
c.987C>A (p.Ser329Arg)
9g.127824805C>ACA374981884ENGc.440G>T (p.Ser147Ile)
c.986G>T (p.Ser329Ile)
 gnomAD v4
9g.127824805C>GCA374981886ENGc.440G>C (p.Ser147Thr)
c.986G>C (p.Ser329Thr)
9g.127824805C>TCA374981887ENGc.440G>A (p.Ser147Asn)
c.986G>A (p.Ser329Asn)
9g.127824806T>ACA374981908ENGc.439A>T (p.Ser147Cys)
c.985A>T (p.Ser329Cys)
 ClinVar dbSNP
9g.127824806T>CCA374981915ENGc.439A>G (p.Ser147Gly)
c.985A>G (p.Ser329Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127824806T>GCA374981910ENGc.439A>C (p.Ser147Arg)
c.985A>C (p.Ser329Arg)
 dbSNP gnomAD v2 gnomAD v4
9g.127824806T=CA1879973377ENGc.439A= (p.Ser147=)
c.985A= (p.Ser329=)
9g.127824807G>ACA467230893ENGc.438C>T (p.Ser146=)
c.984C>T (p.Ser328=)
9g.127824807G>CCA467230894ENGc.438C>G (p.Ser146=)
c.984C>G (p.Ser328=)
9g.127824807G>TCA467230895ENGc.438C>A (p.Ser146=)
c.984C>A (p.Ser328=)
9g.127824807_127824808delinsCTCA915947173ENGc.437_438delinsAG (p.Ser146Ter)
c.983_984delinsAG (p.Ser328Ter)
 ClinVar dbSNP
9g.127824807_127824808delinsGGCA1879973390ENGc.437_438delinsCC (p.Ser146=)
c.983_984delinsCC (p.Ser328=)
9g.127824808G>ACA374981918ENGc.437C>T (p.Ser146Phe)
c.983C>T (p.Ser328Phe)
9g.127824808G>CCA374981921ENGc.437C>G (p.Ser146Cys)
c.983C>G (p.Ser328Cys)
9g.127824808G>TCA374981924ENGc.437C>A (p.Ser146Tyr)
c.983C>A (p.Ser328Tyr)
9g.127824809A>CCA374981927ENGc.436T>G (p.Ser146Ala)
c.982T>G (p.Ser328Ala)
9g.127824809A>GCA374981929ENGc.436T>C (p.Ser146Pro)
c.982T>C (p.Ser328Pro)
9g.127824809A>TCA374981931ENGc.436T>A (p.Ser146Thr)
c.982T>A (p.Ser328Thr)
 ClinVar
9g.127824809_127824810delinsAGCA1879973393ENGc.435_436delinsCT (p.Ala145=)
c.981_982delinsCT (p.Ala327=)
9g.127824810_127824813dupCA2695211247ENGc.433_436dup (p.Ser146CysfsTer7)
c.979_982dup (p.Ser328CysfsTer7)
9g.127824810G>ACA467230896ENGc.435C>T (p.Ala145=)
c.981C>T (p.Ala327=)
 gnomAD v4 COSMIC COSMIC
9g.127824810G>CCA467230897ENGc.435C>G (p.Ala145=)
c.981C>G (p.Ala327=)
9g.127824810G>TCA467230898ENGc.435C>A (p.Ala145=)
c.981C>A (p.Ala327=)
 gnomAD v4
9g.127824811delCA5252929ENGc.435del (p.Ser146ProfsTer?)
c.981del (p.Ser328ProfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.127824811G>ACA374981934ENGc.434C>T (p.Ala145Val)
c.980C>T (p.Ala327Val)
 gnomAD v4
9g.127824811G>CCA374981935ENGc.434C>G (p.Ala145Gly)
c.980C>G (p.Ala327Gly)
9g.127824811G=CA1879973399ENGc.434C= (p.Ala145=)
c.980C= (p.Ala327=)
9g.127824811G>TCA200313005ENGc.434C>A (p.Ala145Asp)
c.980C>A (p.Ala327Asp)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched