Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.127823973_127830053del | CA1139661202 | ENG | c.-327-226_588+331del c.220-226_1134+331del | ClinVar |
9 | g.127823973_127830815del | CA1139661203 | ENG | c.-327-988_588+331del c.220-988_1134+331del | ClinVar |
9 | g.127824679_127826283del | CA1139661205 | ENG | c.-24+229_445+123del c.523+229_991+123del | ClinVar |
9 | g.127824681_127830056del | CA1139661206 | ENG | c.-327-225_445+123del c.220-225_991+123del | ClinVar |
9 | g.127824709_127824895delinsGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGA | CA1879973147 | ENG | c.350_445+91delinsTCCTGGGGGAGGCCCGGATGCTCAATGCCAGCATTGTGGCATCCTTCGTGGAGCTACCGCTGGCCAGCATTGTCTCACTTCATGCCTCCAGCTGCGGTGAGCACCCTTCCCCTGCCCCTCCCTTCCCTTCCCCTCCCTTGGATCAGTGGCCACACTGTTGGTGAAGCACCTCTGTGTGAGCTTGGGC c.896_991+91delinsTCCTGGGGGAGGCCCGGATGCTCAATGCCAGCATTGTGGCATCCTTCGTGGAGCTACCGCTGGCCAGCATTGTCTCACTTCATGCCTCCAGCTGCGGTGAGCACCCTTCCCCTGCCCCTCCCTTCCCTTCCCCTCCCTTGGATCAGTGGCCACACTGTTGGTGAAGCACCTCTGTGTGAGCTTGGGC | |
9 | g.127824710_127824895del | CA658797291 | ENG | c.350_445+90del c.896_991+90del | ClinVar dbSNP |
9 | g.127824726G>A | CA2691808423 | ENG | c.445+74C>T (n.445+74C>T) c.991+74C>T (n.991+74C>T) | gnomAD v4 |
9 | g.127824726G>T | CA2691808424 | ENG | c.445+74C>A (n.445+74C>A) c.991+74C>A (n.991+74C>A) | gnomAD v4 |
9 | g.127824727G>A | CA2785996441 | ENG | c.445+73C>T (n.445+73C>T) c.991+73C>T (n.991+73C>T) | |
9 | g.127824727G= | CA1879973173 | ENG | c.445+73C= (n.445+73C=) c.991+73C= (n.991+73C=) | |
9 | g.127824727G>T | CA200312880 | ENG | c.445+73C>A (n.445+73C>A) c.991+73C>A (n.991+73C>A) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127824728T>C | CA2691808425 | ENG | c.445+72A>G (n.445+72A>G) c.991+72A>G (n.991+72A>G) | gnomAD v4 |
9 | g.127824728T>G | CA1879973179 | ENG | c.445+72A>C (n.445+72A>C) c.991+72A>C (n.991+72A>C) | dbSNP gnomAD v4 |
9 | g.127824728T= | CA1879973178 | ENG | c.445+72A= (n.445+72A=) c.991+72A= (n.991+72A=) | |
9 | g.127824729G>A | CA2691808426 | ENG | c.445+71C>T (n.445+71C>T) c.991+71C>T (n.991+71C>T) | gnomAD v4 |
9 | g.127824729G>T | CA2691808427 | ENG | c.445+71C>A (n.445+71C>A) c.991+71C>A (n.991+71C>A) | gnomAD v4 |
9 | g.127824730C>T | CA2579461269 | ENG | c.445+70G>A (n.445+70G>A) c.991+70G>A (n.991+70G>A) | gnomAD v4 |
9 | g.127824731T>C | CA2691808428 | ENG | c.445+69A>G (n.445+69A>G) c.991+69A>G (n.991+69A>G) | gnomAD v4 |
9 | g.127824731T>G | CA860196696 | ENG | c.445+69A>C (n.445+69A>C) c.991+69A>C (n.991+69A>C) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127824731T= | CA1879973182 | ENG | c.445+69A= (n.445+69A=) c.991+69A= (n.991+69A=) | |
9 | g.127824732T>C | CA860196698 | ENG | c.445+68A>G (n.445+68A>G) c.991+68A>G (n.991+68A>G) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127824732T= | CA1879973185 | ENG | c.445+68A= (n.445+68A=) c.991+68A= (n.991+68A=) | |
9 | g.127824733C>A | CA2691808431 | ENG | c.445+67G>T (n.445+67G>T) c.991+67G>T (n.991+67G>T) | gnomAD v4 |
9 | g.127824733C>G | CA2691808430 | ENG | c.445+67G>C (n.445+67G>C) c.991+67G>C (n.991+67G>C) | gnomAD v4 |
9 | g.127824735_127824737del | CA2691808429 | ENG | c.445+65_445+67del (n.445+65_445+67del) c.991+65_991+67del (n.991+65_991+67del) | gnomAD v4 |
9 | g.127824735C>A | CA2691808433 | ENG | c.445+65G>T (n.445+65G>T) c.991+65G>T (n.991+65G>T) | gnomAD v4 |
9 | g.127824735C>T | CA2691808434 | ENG | c.445+65G>A (n.445+65G>A) c.991+65G>A (n.991+65G>A) | dbSNP gnomAD v4 |
9 | g.127824736dup | CA2691808432 | ENG | c.445+65dup (n.445+65dup) c.991+65dup (n.991+65dup) | dbSNP gnomAD v4 |
9 | g.127824736C>A | CA2691808435 | ENG | c.445+64G>T (n.445+64G>T) c.991+64G>T (n.991+64G>T) | gnomAD v4 |
9 | g.127824736C>T | CA2691808436 | ENG | c.445+64G>A (n.445+64G>A) c.991+64G>A (n.991+64G>A) | gnomAD v4 |
9 | g.127824737_127824739delinsAAC | CA1879973188 | ENG | c.445+61_445+63delinsGTT (n.445+61_445+63delinsGTT) c.991+61_991+63delinsGTT (n.991+61_991+63delinsGTT) | |
9 | g.127824738A>C | CA2579461270 | ENG | c.445+62T>G (n.445+62T>G) c.991+62T>G (n.991+62T>G) | |
9 | g.127824739_127824740del | CA200312883 | ENG | c.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 |
9 | g.127824739C>A | CA2691808437 | ENG | c.445+61G>T (n.445+61G>T) c.991+61G>T (n.991+61G>T) | gnomAD v4 |
9 | g.127824739C= | CA1879973189 | ENG | c.445+61G= (n.445+61G=) c.991+61G= (n.991+61G=) | |
9 | g.127824739C>G | CA2691808438 | ENG | c.445+61G>C (n.445+61G>C) c.991+61G>C (n.991+61G>C) | gnomAD v4 |
9 | g.127824739C>T | CA1879973190 | ENG | c.445+61G>A (n.445+61G>A) c.991+61G>A (n.991+61G>A) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127824740A>G | CA2691808439 | ENG | c.445+60T>C (n.445+60T>C) c.991+60T>C (n.991+60T>C) | gnomAD v4 |
9 | g.127824740A>T | CA2691808440 | ENG | c.445+60T>A (n.445+60T>A) c.991+60T>A (n.991+60T>A) | gnomAD v4 |
9 | g.127824740_127824742delinsAGT | CA1879973192 | ENG | c.445+58_445+60delinsACT (n.445+58_445+60delinsACT) c.991+58_991+60delinsACT (n.991+58_991+60delinsACT) | |
9 | g.127824741G>A | CA2691808442 | ENG | c.445+59C>T (n.445+59C>T) c.991+59C>T (n.991+59C>T) | gnomAD v4 |
9 | g.127824741G>T | CA2691808441 | ENG | c.445+59C>A (n.445+59C>A) c.991+59C>A (n.991+59C>A) | gnomAD v4 |
9 | g.127824744_127824745del | CA1879973195 | ENG | c.445+58_445+59del (n.445+58_445+59del) c.991+58_991+59del (n.991+58_991+59del) | dbSNP gnomAD v4 |
9 | g.127824742T>A | CA200312886 | ENG | c.445+58A>T (n.445+58A>T) c.991+58A>T (n.991+58A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824742T>G | CA2691808443 | ENG | c.445+58A>C (n.445+58A>C) c.991+58A>C (n.991+58A>C) | gnomAD v4 |
9 | g.127824742T= | CA1879973198 | ENG | c.445+58A= (n.445+58A=) c.991+58A= (n.991+58A=) | |
9 | g.127824743G>A | CA2579461271 | ENG | c.445+57C>T (n.445+57C>T) c.991+57C>T (n.991+57C>T) | gnomAD v4 |
9 | g.127824743G>T | CA2691808444 | ENG | c.445+57C>A (n.445+57C>A) c.991+57C>A (n.991+57C>A) | gnomAD v4 |
9 | g.127824744T>C | CA860196704 | ENG | c.445+56A>G (n.445+56A>G) c.991+56A>G (n.991+56A>G) | dbSNP gnomAD v4 |
9 | g.127824744T>G | CA1129279537 | ENG | c.445+56A>C (n.445+56A>C) c.991+56A>C (n.991+56A>C) | gnomAD v3 gnomAD v4 |
9 | g.127824744T= | CA1879973201 | ENG | c.445+56A= (n.445+56A=) c.991+56A= (n.991+56A=) | |
9 | g.127824745G>A | CA200312889 | ENG | c.445+55C>T (n.445+55C>T) c.991+55C>T (n.991+55C>T) | dbSNP gnomAD v4 |
9 | g.127824745G= | CA1879973202 | ENG | c.445+55C= (n.445+55C=) c.991+55C= (n.991+55C=) | |
9 | g.127824745G>T | CA2691808445 | ENG | c.445+55C>A (n.445+55C>A) c.991+55C>A (n.991+55C>A) | gnomAD v4 |
9 | g.127824746G>T | CA2691808446 | ENG | c.445+54C>A (n.445+54C>A) c.991+54C>A (n.991+54C>A) | gnomAD v4 |
9 | g.127824747C>A | CA2691808447 | ENG | c.445+53G>T (n.445+53G>T) c.991+53G>T (n.991+53G>T) | gnomAD v4 |
9 | g.127824748C>A | CA2691808448 | ENG | c.445+52G>T (n.445+52G>T) c.991+52G>T (n.991+52G>T) | gnomAD v4 |
9 | g.127824748C>T | CA2691808449 | ENG | c.445+52G>A (n.445+52G>A) c.991+52G>A (n.991+52G>A) | gnomAD v4 |
9 | g.127824749A= | CA1879973205 | ENG | c.445+51T= (n.445+51T=) c.991+51T= (n.991+51T=) | |
9 | g.127824749A>G | CA5252911 | ENG | c.445+51T>C (n.445+51T>C) c.991+51T>C (n.991+51T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127824749_127824750delinsAC | CA1879973206 | ENG | c.445+50_445+51delinsGT (n.445+50_445+51delinsGT) c.991+50_991+51delinsGT (n.991+50_991+51delinsGT) | |
9 | g.127824750del | CA1879973207 | ENG | c.445+50del (n.445+50del) c.991+50del (n.991+50del) | dbSNP |
9 | g.127824750C>A | CA2840996408 | ENG | c.445+50G>T (n.445+50G>T) c.991+50G>T (n.991+50G>T) | |
9 | g.127824750C>T | CA2691808450 | ENG | c.445+50G>A (n.445+50G>A) c.991+50G>A (n.991+50G>A) | gnomAD v4 |
9 | g.127824751T>C | CA2691808451 | ENG | c.445+49A>G (n.445+49A>G) c.991+49A>G (n.991+49A>G) | gnomAD v4 |
9 | g.127824751T>G | CA2785996446 | ENG | c.445+49A>C (n.445+49A>C) c.991+49A>C (n.991+49A>C) | |
9 | g.127824752G>A | CA2691808452 | ENG | c.445+48C>T (n.445+48C>T) c.991+48C>T (n.991+48C>T) | gnomAD v4 |
9 | g.127824752G>T | CA2691808453 | ENG | c.445+48C>A (n.445+48C>A) c.991+48C>A (n.991+48C>A) | gnomAD v4 |
9 | g.127824753A>G | CA2691808454 | ENG | c.445+47T>C (n.445+47T>C) c.991+47T>C (n.991+47T>C) | gnomAD v4 |
9 | g.127824754T>A | CA2691808455 | ENG | c.445+46A>T (n.445+46A>T) c.991+46A>T (n.991+46A>T) | gnomAD v4 |
9 | g.127824755C>A | CA2691808456 | ENG | c.445+45G>T (n.445+45G>T) c.991+45G>T (n.991+45G>T) | gnomAD v4 |
9 | g.127824755C= | CA1879973210 | ENG | c.445+45G= (n.445+45G=) c.991+45G= (n.991+45G=) | |
9 | g.127824755C>G | CA2691808457 | ENG | c.445+45G>C (n.445+45G>C) c.991+45G>C (n.991+45G>C) | gnomAD v4 |
9 | g.127824755C>T | CA860196709 | ENG | c.445+45G>A (n.445+45G>A) c.991+45G>A (n.991+45G>A) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127824756C>A | CA2691808458 | ENG | c.445+44G>T (n.445+44G>T) c.991+44G>T (n.991+44G>T) | gnomAD v4 |
9 | g.127824756C= | CA1879973211 | ENG | c.445+44G= (n.445+44G=) c.991+44G= (n.991+44G=) | |
9 | g.127824756C>T | CA1129279540 | ENG | c.445+44G>A (n.445+44G>A) c.991+44G>A (n.991+44G>A) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127824757A= | CA1879973212 | ENG | c.445+43T= (n.445+43T=) c.991+43T= (n.991+43T=) | |
9 | g.127824757A>G | CA2691808459 | ENG | c.445+43T>C (n.445+43T>C) c.991+43T>C (n.991+43T>C) | gnomAD v4 |
9 | g.127824767_127824781dup | CA1129279541 | ENG | c.445+29_445+43dup (n.445+29_445+43dup) c.991+29_991+43dup (n.991+29_991+43dup) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127824758A= | CA1879973216 | ENG | c.445+42T= (n.445+42T=) c.991+42T= (n.991+42T=) | |
9 | g.127824758A>C | CA2691808460 | ENG | c.445+42T>G (n.445+42T>G) c.991+42T>G (n.991+42T>G) | gnomAD v4 |
9 | g.127824758A>G | CA590939442 | ENG | c.445+42T>C (n.445+42T>C) c.991+42T>C (n.991+42T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824758_127824778dup | CA5252912 | ENG | c.445+22_445+42dup (n.445+22_445+42dup) c.991+22_991+42dup (n.991+22_991+42dup) | dbSNP ExAC |
9 | g.127824759G>C | CA2691808463 | ENG | c.445+41C>G (n.445+41C>G) c.991+41C>G (n.991+41C>G) | gnomAD v4 |
9 | g.127824759G>T | CA2691808462 | ENG | c.445+41C>A (n.445+41C>A) c.991+41C>A (n.991+41C>A) | gnomAD v4 |
9 | g.127824761_127824762insGGGGG | CA2785996447 | ENG | c.445+41_445+42insCCCCC (n.445+41_445+42insCCCCC) c.991+41_991+42insCCCCC (n.991+41_991+42insCCCCC) | |
9 | g.127824761del | CA2691808461 | ENG | c.445+41del (n.445+41del) c.991+41del (n.991+41del) | gnomAD v4 |
9 | g.127824763_127824767dup | CA5252913 | ENG | c.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 |
9 | g.127824761_127824781dup | CA2691808464 | ENG | c.445+21_445+41dup (n.445+21_445+41dup) c.991+21_991+41dup (n.991+21_991+41dup) | gnomAD v4 |
9 | g.127824760G>A | CA2691808465 | ENG | c.445+40C>T (n.445+40C>T) c.991+40C>T (n.991+40C>T) | gnomAD v4 |
9 | g.127824760G= | CA1879973217 | ENG | c.445+40C= (n.445+40C=) c.991+40C= (n.991+40C=) | |
9 | g.127824760G>T | CA590939443 | ENG | c.445+40C>A (n.445+40C>A) c.991+40C>A (n.991+40C>A) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127824761G>A | CA590939444 | ENG | c.445+39C>T (n.445+39C>T) c.991+39C>T (n.991+39C>T) | gnomAD v2 gnomAD v4 |
9 | g.127824761G>C | CA2579461272 | ENG | c.445+39C>G (n.445+39C>G) c.991+39C>G (n.991+39C>G) | |
9 | g.127824761G>T | CA2691808466 | ENG | c.445+39C>A (n.445+39C>A) c.991+39C>A (n.991+39C>A) | gnomAD v4 |
9 | g.127824761_127824782delinsGAGGGGAAGGGAAGGGAGGGGC | CA1879973219 | ENG | c.445+18_445+39delinsGCCCCTCCCTTCCCTTCCCCTC (n.445+18_445+39delinsGCCCCTCCCTTCCCTTCCCCTC) c.991+18_991+39delinsGCCCCTCCCTTCCCTTCCCCTC (n.991+18_991+39delinsGCCCCTCCCTTCCCTTCCCCTC) | |
9 | g.127824762A= | CA1879973224 | ENG | c.445+38T= (n.445+38T=) c.991+38T= (n.991+38T=) | |
9 | g.127824762A>C | CA200312914 | ENG | c.445+38T>G (n.445+38T>G) c.991+38T>G (n.991+38T>G) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127824762A>G | CA1129279543 | ENG | c.445+38T>C (n.445+38T>C) c.991+38T>C (n.991+38T>C) | gnomAD v3 gnomAD v4 |
9 | g.127824762A>T | CA2691808467 | ENG | c.445+38T>A (n.445+38T>A) c.991+38T>A (n.991+38T>A) | gnomAD v4 |
9 | g.127824772_127824792dup | CA5252915 | ENG | c.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 |
9 | g.127824772_127824792del | CA5252914 | ENG | c.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 |
9 | g.127824763G>A | CA5252917 | ENG | c.445+37C>T (n.445+37C>T) c.991+37C>T (n.991+37C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127824763G= | CA1879973230 | ENG | c.445+37C= (n.445+37C=) c.991+37C= (n.991+37C=) | |
9 | g.127824763G>T | CA5252916 | ENG | c.445+37C>A (n.445+37C>A) c.991+37C>A (n.991+37C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824766del | CA2691808468 | ENG | c.445+37del (n.445+37del) c.991+37del (n.991+37del) | gnomAD v4 |
9 | g.127824764G>A | CA5252919 | ENG | c.445+36C>T (n.445+36C>T) c.991+36C>T (n.991+36C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824764G= | CA1879973235 | ENG | c.445+36C= (n.445+36C=) c.991+36C= (n.991+36C=) | |
9 | g.127824764G>T | CA2691808469 | ENG | c.445+36C>A (n.445+36C>A) c.991+36C>A (n.991+36C>A) | gnomAD v4 |
9 | g.127824773_127824777dup | CA5252918 | ENG | c.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 |
9 | g.127824773_127824777del | CA2691808470 | ENG | c.445+32_445+36del (n.445+32_445+36del) c.991+32_991+36del (n.991+32_991+36del) | gnomAD v4 |
9 | g.127824765G>A | CA1879973242 | ENG | c.445+35C>T (n.445+35C>T) c.991+35C>T (n.991+35C>T) | dbSNP gnomAD v4 |
9 | g.127824765G= | CA1879973240 | ENG | c.445+35C= (n.445+35C=) c.991+35C= (n.991+35C=) | |
9 | g.127824765G>T | CA1129279544 | ENG | c.445+35C>A (n.445+35C>A) c.991+35C>A (n.991+35C>A) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127824767_127824775del | CA2691808472 | ENG | c.445+27_445+35del (n.445+27_445+35del) c.991+27_991+35del (n.991+27_991+35del) | gnomAD v4 |
9 | g.127824766G>A | CA590939445 | ENG | c.445+34C>T (n.445+34C>T) c.991+34C>T (n.991+34C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824766G= | CA1879973244 | ENG | c.445+34C= (n.445+34C=) c.991+34C= (n.991+34C=) | |
9 | g.127824766G>T | CA2569554886 | ENG | c.445+34C>A (n.445+34C>A) c.991+34C>A (n.991+34C>A) | gnomAD v4 |
9 | g.127824766_127824767delinsGA | CA1879973245 | ENG | c.445+33_445+34delinsTC (n.445+33_445+34delinsTC) c.991+33_991+34delinsTC (n.991+33_991+34delinsTC) | |
9 | g.127824767A>C | CA2691808473 | ENG | c.445+33T>G (n.445+33T>G) c.991+33T>G (n.991+33T>G) | gnomAD v4 |
9 | g.127824768del | CA1879973247 | ENG | c.445+33del (n.445+33del) c.991+33del (n.991+33del) | dbSNP gnomAD v4 |
9 | g.127824768A= | CA1879973248 | ENG | c.445+32T= (n.445+32T=) c.991+32T= (n.991+32T=) | |
9 | g.127824768A>C | CA2579461273 | ENG | c.445+32T>G (n.445+32T>G) c.991+32T>G (n.991+32T>G) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127824768A>G | CA5252920 | ENG | c.445+32T>C (n.445+32T>C) c.991+32T>C (n.991+32T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824768A>T | CA2691808474 | ENG | c.445+32T>A (n.445+32T>A) c.991+32T>A (n.991+32T>A) | gnomAD v4 |
9 | g.127824769G>A | CA2691808475 | ENG | c.445+31C>T (n.445+31C>T) c.991+31C>T (n.991+31C>T) | gnomAD v4 |
9 | g.127824769G>T | CA2691808476 | ENG | c.445+31C>A (n.445+31C>A) c.991+31C>A (n.991+31C>A) | gnomAD v4 |
9 | g.127824770G>A | CA590939446 | ENG | c.445+30C>T (n.445+30C>T) c.991+30C>T (n.991+30C>T) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127824770G>C | CA5252921 | ENG | c.445+30C>G (n.445+30C>G) c.991+30C>G (n.991+30C>G) | dbSNP ExAC |
9 | g.127824770G= | CA1879973252 | ENG | c.445+30C= (n.445+30C=) c.991+30C= (n.991+30C=) | |
9 | g.127824770G>T | CA2691808477 | ENG | c.445+30C>A (n.445+30C>A) c.991+30C>A (n.991+30C>A) | gnomAD v4 |
9 | g.127824771G>T | CA2691808478 | ENG | c.445+29C>A (n.445+29C>A) c.991+29C>A (n.991+29C>A) | gnomAD v4 |
9 | g.127824772A= | CA1879973254 | ENG | c.445+28T= (n.445+28T=) c.991+28T= (n.991+28T=) | |
9 | g.127824772A>C | CA1129279547 | ENG | c.445+28T>G (n.445+28T>G) c.991+28T>G (n.991+28T>G) | gnomAD v3 gnomAD v4 |
9 | g.127824772A>G | CA2691808479 | ENG | c.445+28T>C (n.445+28T>C) c.991+28T>C (n.991+28T>C) | gnomAD v4 |
9 | g.127824772A>T | CA590939447 | ENG | c.445+28T>A (n.445+28T>A) c.991+28T>A (n.991+28T>A) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127824772_127824773insG | CA1129279575 | ENG | c.445+27_445+28insC (n.445+27_445+28insC) c.991+27_991+28insC (n.991+27_991+28insC) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127824772_127824773insCGGG | CA2691808480 | ENG | c.445+27_445+28insCCCG (n.445+27_445+28insCCCG) c.991+27_991+28insCCCG (n.991+27_991+28insCCCG) | dbSNP gnomAD v4 |
9 | g.127824772_127824773insGGGG | CA1129279565 | ENG | c.445+27_445+28insCCCC (n.445+27_445+28insCCCC) c.991+27_991+28insCCCC (n.991+27_991+28insCCCC) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127824772_127824773insTGGG | CA2691808481 | ENG | c.445+27_445+28insCCCA (n.445+27_445+28insCCCA) c.991+27_991+28insCCCA (n.991+27_991+28insCCCA) | gnomAD v4 |
9 | g.127824772_127824773insGGGGGG | CA1129279555 | ENG | c.445+27_445+28insCCCCCC (n.445+27_445+28insCCCCCC) c.991+27_991+28insCCCCCC (n.991+27_991+28insCCCCCC) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127824772_127824773insTGGGTG | CA1879973265 | ENG | c.445+27_445+28insCACCCA (n.445+27_445+28insCACCCA) c.991+27_991+28insCACCCA (n.991+27_991+28insCACCCA) | dbSNP |
9 | g.127824773A= | CA1879973261 | ENG | c.445+27T= (n.445+27T=) c.991+27T= (n.991+27T=) | |
9 | g.127824773A>G | CA200312945 | ENG | c.445+27T>C (n.445+27T>C) c.991+27T>C (n.991+27T>C) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127824773_127824779delinsAGGGAGG | CA2742038520 | ENG | c.445+21_445+27delinsCCTCCCT (n.445+21_445+27delinsCCTCCCT) c.991+21_991+27delinsCCTCCCT (n.991+21_991+27delinsCCTCCCT) | |
9 | g.127824773_127824774insCGGAGG | CA2691808488 | ENG | c.445+26_445+27insCCTCCG (n.445+26_445+27insCCTCCG) c.991+26_991+27insCCTCCG (n.991+26_991+27insCCTCCG) | gnomAD v4 |
9 | g.127824773_127824774insTGGAGG | CA2691808485 | ENG | c.445+26_445+27insCCTCCA (n.445+26_445+27insCCTCCA) c.991+26_991+27insCCTCCA (n.991+26_991+27insCCTCCA) | gnomAD v4 |
9 | g.127824774G>A | CA200312973 | ENG | c.445+26C>T (n.445+26C>T) c.991+26C>T (n.991+26C>T) | dbSNP gnomAD v4 |
9 | g.127824774G= | CA1879973281 | ENG | c.445+26C= (n.445+26C=) c.991+26C= (n.991+26C=) | |
9 | g.127824774G>T | CA2691808486 | ENG | c.445+26C>A (n.445+26C>A) c.991+26C>A (n.991+26C>A) | gnomAD v4 |
9 | g.127824774_127824775insAGAGGG | CA1879973284 | ENG | c.445+26_445+27insCCTCTC (n.445+26_445+27insCCTCTC) c.991+26_991+27insCCTCTC (n.991+26_991+27insCCTCTC) | dbSNP |
9 | g.127824774_127824775insAGGGGG | CA916081554 | ENG | c.445+26_445+27insCCCCTC (n.445+26_445+27insCCCCTC) c.991+26_991+27insCCCCTC (n.991+26_991+27insCCCCTC) | |
9 | g.127824774_127824775insCGAGGG | CA2691808489 | ENG | c.445+26_445+27insCCTCGC (n.445+26_445+27insCCTCGC) c.991+26_991+27insCCTCGC (n.991+26_991+27insCCTCGC) | gnomAD v4 |
9 | g.127824775_127824776insAAGGGG | CA5252924 | ENG | c.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 |
9 | g.127824775_127824776insCAGGGG | CA2785996454 | ENG | c.445+26_445+27insCCTGCC (n.445+26_445+27insCCTGCC) c.991+26_991+27insCCTGCC (n.991+26_991+27insCCTGCC) | |
9 | g.127824775_127824776insTAGGGG | CA5252923 | ENG | c.445+26_445+27insCCTACC (n.445+26_445+27insCCTACC) c.991+26_991+27insCCTACC (n.991+26_991+27insCCTACC) | dbSNP ExAC gnomAD v4 |
9 | g.127824776_127824777insCGGGGG | CA860196744 | ENG | c.445+26_445+27insCCGCCC (n.445+26_445+27insCCGCCC) c.991+26_991+27insCCGCCC (n.991+26_991+27insCCGCCC) | dbSNP |
9 | g.127824776_127824777insGAGGGG | CA915947172 | ENG | c.445+26_445+27insCTCCCC (n.445+26_445+27insCTCCCC) c.991+26_991+27insCTCCCC (n.991+26_991+27insCTCCCC) | |
9 | g.127824776_127824777insGGGGGG | CA860196752 | ENG | c.445+26_445+27insCCCCCC (n.445+26_445+27insCCCCCC) c.991+26_991+27insCCCCCC (n.991+26_991+27insCCCCCC) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127824776_127824777insTGGGGG | CA2691808484 | ENG | c.445+26_445+27insCCACCC (n.445+26_445+27insCCACCC) c.991+26_991+27insCCACCC (n.991+26_991+27insCCACCC) | gnomAD v4 |
9 | g.127824775_127824776dup | CA1129279599 | ENG | c.445+25_445+26dup (n.445+25_445+26dup) c.991+25_991+26dup (n.991+25_991+26dup) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127824777_127824778insAGGGGA | CA590939449 | ENG | c.445+26_445+27insCTTCCC (n.445+26_445+27insCTTCCC) c.991+26_991+27insCTTCCC (n.991+26_991+27insCTTCCC) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127824777_127824778insTGGGGA | CA2691808483 | ENG | c.445+26_445+27insCATCCC (n.445+26_445+27insCATCCC) c.991+26_991+27insCATCCC (n.991+26_991+27insCATCCC) | gnomAD v4 |
9 | g.127824778_127824779insTGGGAG | CA2691808482 | ENG | c.445+26_445+27insACTCCC (n.445+26_445+27insACTCCC) c.991+26_991+27insACTCCC (n.991+26_991+27insACTCCC) | gnomAD v4 |
9 | g.127824781_127824782insGAGGGGGAGGGG | CA1129279609 | ENG | c.445+26_445+27insCCTCCCCCTCCC (n.445+26_445+27insCCTCCCCCTCCC) c.991+26_991+27insCCTCCCCCTCCC (n.991+26_991+27insCCTCCCCCTCCC) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127824781_127824782insGAGAGGGAGGGGGAGGGG | CA2691808490 | ENG | c.445+26_445+27insCCTCCCTCTCCCCCTCCC (n.445+26_445+27insCCTCCCTCTCCCCCTCCC) c.991+26_991+27insCCTCCCTCTCCCCCTCCC (n.991+26_991+27insCCTCCCTCTCCCCCTCCC) | gnomAD v4 |
9 | g.127824781_127824782insAAGGGAAGGGAGGGGGAGGGG | CA2785996455 | ENG | c.445+26_445+27insCCTCCCTTCCCTTCCCCTCCC (n.445+26_445+27insCCTCCCTTCCCTTCCCCTCCC) c.991+26_991+27insCCTCCCTTCCCTTCCCCTCCC (n.991+26_991+27insCCTCCCTTCCCTTCCCCTCCC) | |
9 | g.127824781_127824782insGAGGGGAAGGGAAGGGAGGGGGAGGGG | CA1129279606 | ENG | c.445+26_445+27insCCTCCCTTCCCTTCCCCTCCCCCTCCC (n.445+26_445+27insCCTCCCTTCCCTTCCCCTCCCCCTCCC) c.991+26_991+27insCCTCCCTTCCCTTCCCCTCCCCCTCCC (n.991+26_991+27insCCTCCCTTCCCTTCCCCTCCCCCTCCC) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127824781_127824782insGAGGGGGAGGGGAAGGGAAGGGAGGGGGAGGGG | CA590939448 | ENG | c.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 |
9 | g.127824777_127824781dup | CA2691808487 | ENG | c.445+22_445+26dup (n.445+22_445+26dup) c.991+22_991+26dup (n.991+22_991+26dup) | gnomAD v4 |
9 | g.127824776_127824781dup | CA321260 | ENG | c.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 |
9 | g.127824792_127824793insAGGGGGAGGGGCAGGGGAAGGG | CA5252922 | ENG | c.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 |
9 | g.127824775G>A | CA2579461276 | ENG | c.445+25C>T (n.445+25C>T) c.991+25C>T (n.991+25C>T) | |
9 | g.127824775G= | CA1879973304 | ENG | c.445+25C= (n.445+25C=) c.991+25C= (n.991+25C=) | |
9 | g.127824775G>T | CA590939452 | ENG | c.445+25C>A (n.445+25C>A) c.991+25C>A (n.991+25C>A) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127824779_127824780insTGGAGG | CA590939450 | ENG | c.445+25_445+26insACCTCC (n.445+25_445+26insACCTCC) c.991+25_991+26insACCTCC (n.991+25_991+26insACCTCC) | dbSNP gnomAD v2 |
9 | g.127824776G>A | CA1129279614 | ENG | c.445+24C>T (n.445+24C>T) c.991+24C>T (n.991+24C>T) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127824776G= | CA1879973307 | ENG | c.445+24C= (n.445+24C=) c.991+24C= (n.991+24C=) | |
9 | g.127824776G>T | CA2691808492 | ENG | c.445+24C>A (n.445+24C>A) c.991+24C>A (n.991+24C>A) | gnomAD v4 |
9 | g.127824777A= | CA1879973311 | ENG | c.445+23T= (n.445+23T=) c.991+23T= (n.991+23T=) | |
9 | g.127824777A>G | CA860196762 | ENG | c.445+23T>C (n.445+23T>C) c.991+23T>C (n.991+23T>C) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127824777A>T | CA2691808494 | ENG | c.445+23T>A (n.445+23T>A) c.991+23T>A (n.991+23T>A) | gnomAD v4 |
9 | g.127824781_127824782insAAGGGG | CA2720712143 | ENG | c.445+23_445+24insTCCCCT (n.445+23_445+24insTCCCCT) c.991+23_991+24insTCCCCT (n.991+23_991+24insTCCCCT) | dbSNP |
9 | g.127824782_127824787dup | CA1879973309 | ENG | c.445+18_445+23dup (n.445+18_445+23dup) c.991+18_991+23dup (n.991+18_991+23dup) | dbSNP gnomAD v4 |
9 | g.127824778G>A | CA2691808498 | ENG | c.445+22C>T (n.445+22C>T) c.991+22C>T (n.991+22C>T) | gnomAD v4 |
9 | g.127824778G= | CA1879973314 | ENG | c.445+22C= (n.445+22C=) c.991+22C= (n.991+22C=) | |
9 | g.127824778G>T | CA2691808497 | ENG | c.445+22C>A (n.445+22C>A) c.991+22C>A (n.991+22C>A) | gnomAD v4 |
9 | g.127824781_127824782insGCGGGG | CA2720460371 | ENG | c.445+22_445+23insGCCCCC (n.445+22_445+23insGCCCCC) c.991+22_991+23insGCCCCC (n.991+22_991+23insGCCCCC) | dbSNP |
9 | g.127824781_127824782insGGGGGG | CA1129279623 | ENG | c.445+22_445+23insCCCCCC (n.445+22_445+23insCCCCCC) c.991+22_991+23insCCCCCC (n.991+22_991+23insCCCCCC) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127824779_127824781dup | CA5252925 | ENG | c.445+20_445+22dup (n.445+20_445+22dup) c.991+20_991+22dup (n.991+20_991+22dup) | dbSNP ExAC gnomAD v4 |
9 | g.127824781del | CA2691808496 | ENG | c.445+22del (n.445+22del) c.991+22del (n.991+22del) | gnomAD v4 |
9 | g.127824779G>A | CA590939454 | ENG | c.445+21C>T (n.445+21C>T) c.991+21C>T (n.991+21C>T) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127824779G= | CA1879973319 | ENG | c.445+21C= (n.445+21C=) c.991+21C= (n.991+21C=) | |
9 | g.127824779G>T | CA2840996409 | ENG | c.445+21C>A (n.445+21C>A) c.991+21C>A (n.991+21C>A) | |
9 | g.127824781_127824782insGATGGG | CA590939453 | ENG | c.445+21_445+22insATCCCC (n.445+21_445+22insATCCCC) c.991+21_991+22insATCCCC (n.991+21_991+22insATCCCC) | dbSNP gnomAD v2 |
9 | g.127824779_127824780insAGGAGT | CA2840996410 | ENG | c.445+20_445+21insACTCCT (n.445+20_445+21insACTCCT) c.991+20_991+21insACTCCT (n.991+20_991+21insACTCCT) | |
9 | g.127824780G>A | CA2691808501 | ENG | c.445+20C>T (n.445+20C>T) c.991+20C>T (n.991+20C>T) | gnomAD v4 |
9 | g.127824780G= | CA1879973322 | ENG | c.445+20C= (n.445+20C=) c.991+20C= (n.991+20C=) | |
9 | g.127824780G>T | CA2691808502 | ENG | c.445+20C>A (n.445+20C>A) c.991+20C>A (n.991+20C>A) | gnomAD v4 |
9 | g.127824781_127824782insGAGG | CA200312985 | ENG | c.445+20_445+21insTCCC (n.445+20_445+21insTCCC) c.991+20_991+21insTCCC (n.991+20_991+21insTCCC) | dbSNP |
9 | g.127824781_127824782insGAGAGG | CA2691808500 | ENG | c.445+20_445+21insTCTCCC (n.445+20_445+21insTCTCCC) c.991+20_991+21insTCTCCC (n.991+20_991+21insTCTCCC) | gnomAD v4 |
9 | g.127824781G>A | CA2691808506 | ENG | c.445+19C>T (n.445+19C>T) c.991+19C>T (n.991+19C>T) | gnomAD v4 |
9 | g.127824781G>T | CA2691808508 | ENG | c.445+19C>A (n.445+19C>A) c.991+19C>A (n.991+19C>A) | gnomAD v4 |
9 | g.127824781_127824782insGAGGAG | CA590939455 | ENG | c.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 |
9 | g.127824781_127824782insGAGGTG | CA2720473075 | ENG | c.445+19_445+20insACCTCC (n.445+19_445+20insACCTCC) c.991+19_991+20insACCTCC (n.991+19_991+20insACCTCC) | dbSNP |
9 | g.127824782C>A | CA590939457 | ENG | c.445+18G>T (n.445+18G>T) c.991+18G>T (n.991+18G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824782C= | CA1879973324 | ENG | c.445+18G= (n.445+18G=) c.991+18G= (n.991+18G=) | |
9 | g.127824782C>G | CA5252926 | ENG | c.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 |
9 | g.127824782C>T | CA1879973325 | ENG | c.445+18G>A (n.445+18G>A) c.991+18G>A (n.991+18G>A) | dbSNP gnomAD v4 |
9 | g.127824783A>C | CA2691808514 | ENG | c.445+17T>G (n.445+17T>G) c.991+17T>G (n.991+17T>G) | gnomAD v4 |
9 | g.127824783A>G | CA2691808515 | ENG | c.445+17T>C (n.445+17T>C) c.991+17T>C (n.991+17T>C) | gnomAD v4 |
9 | g.127824784G>A | CA2840996411 | ENG | c.445+16C>T (n.445+16C>T) c.991+16C>T (n.991+16C>T) | |
9 | g.127824784G>T | CA2691808517 | ENG | c.445+16C>A (n.445+16C>A) c.991+16C>A (n.991+16C>A) | gnomAD v4 |
9 | g.127824787del | CA2691808516 | ENG | c.445+16del (n.445+16del) c.991+16del (n.991+16del) | gnomAD v4 |
9 | g.127824785G>A | CA2839015787 | ENG | c.445+15C>T (n.445+15C>T) c.991+15C>T (n.991+15C>T) | |
9 | g.127824785G>C | CA2691808519 | ENG | c.445+15C>G (n.445+15C>G) c.991+15C>G (n.991+15C>G) | gnomAD v4 |
9 | g.127824785G>T | CA2691808521 | ENG | c.445+15C>A (n.445+15C>A) c.991+15C>A (n.991+15C>A) | gnomAD v4 |
9 | g.127824787_127824788insCAGGG | CA2579461277 | ENG | c.445+15_445+16insTGCCC (n.445+15_445+16insTGCCC) c.991+15_991+16insTGCCC (n.991+15_991+16insTGCCC) | |
9 | g.127824786G>A | CA590939458 | ENG | c.445+14C>T (n.445+14C>T) c.991+14C>T (n.991+14C>T) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127824786G>C | CA2839319607 | ENG | c.445+14C>G (n.445+14C>G) c.991+14C>G (n.991+14C>G) | |
9 | g.127824786G= | CA1879973327 | ENG | c.445+14C= (n.445+14C=) c.991+14C= (n.991+14C=) | |
9 | g.127824786G>T | CA590939459 | ENG | c.445+14C>A (n.445+14C>A) c.991+14C>A (n.991+14C>A) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127824787G>A | CA2691808527 | ENG | c.445+13C>T (n.445+13C>T) c.991+13C>T (n.991+13C>T) | gnomAD v4 |
9 | g.127824787G>C | CA1129279638 | ENG | c.445+13C>G (n.445+13C>G) c.991+13C>G (n.991+13C>G) | gnomAD v3 gnomAD v4 |
9 | g.127824787G= | CA1879973332 | ENG | c.445+13C= (n.445+13C=) c.991+13C= (n.991+13C=) | |
9 | g.127824787G>T | CA653542275 | ENG | c.445+13C>A (n.445+13C>A) c.991+13C>A (n.991+13C>A) | gnomAD v4 COSMIC |
9 | g.127824788A= | CA1879973334 | ENG | c.445+12T= (n.445+12T=) c.991+12T= (n.991+12T=) | |
9 | g.127824788A>C | CA200312991 | ENG | c.445+12T>G (n.445+12T>G) c.991+12T>G (n.991+12T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824788A>G | CA1879973337 | ENG | c.445+12T>C (n.445+12T>C) c.991+12T>C (n.991+12T>C) | dbSNP gnomAD v4 |
9 | g.127824789dup | CA200312987 | ENG | c.445+12dup (n.445+12dup) c.991+12dup (n.991+12dup) | dbSNP |
9 | g.127824789del | CA2691808531 | ENG | c.445+12del (n.445+12del) c.991+12del (n.991+12del) | gnomAD v4 |
9 | g.127824789A>C | CA1129279644 | ENG | c.445+11T>G (n.445+11T>G) c.991+11T>G (n.991+11T>G) | gnomAD v3 gnomAD v4 |
9 | g.127824789A>G | CA2691808532 | ENG | c.445+11T>C (n.445+11T>C) c.991+11T>C (n.991+11T>C) | gnomAD v4 |
9 | g.127824790G>A | CA860196789 | ENG | c.445+10C>T (n.445+10C>T) c.991+10C>T (n.991+10C>T) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127824790G= | CA1879973338 | ENG | c.445+10C= (n.445+10C=) c.991+10C= (n.991+10C=) | |
9 | g.127824790G>T | CA2691808534 | ENG | c.445+10C>A (n.445+10C>A) c.991+10C>A (n.991+10C>A) | gnomAD v4 |
9 | g.127824791G>A | CA590939461 | ENG | c.445+9C>T (n.445+9C>T) c.991+9C>T (n.991+9C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824791G= | CA1879973341 | ENG | c.445+9C= (n.445+9C=) c.991+9C= (n.991+9C=) | |
9 | g.127824791G>T | CA2691808537 | ENG | c.445+9C>A (n.445+9C>A) c.991+9C>A (n.991+9C>A) | gnomAD v4 |
9 | g.127824792G>T | CA2499219639 | ENG | c.445+8C>A (n.445+8C>A) c.991+8C>A (n.991+8C>A) | ClinVar dbSNP gnomAD v4 |
9 | g.127824793T>A | CA2691808545 | ENG | c.445+7A>T (n.445+7A>T) c.991+7A>T (n.991+7A>T) | gnomAD v4 |
9 | g.127824793T>C | CA200312999 | ENG | c.445+7A>G (n.445+7A>G) c.991+7A>G (n.991+7A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824793T>G | CA590939462 | ENG | c.445+7A>C (n.445+7A>C) c.991+7A>C (n.991+7A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824793T= | CA1879973343 | ENG | c.445+7A= (n.445+7A=) c.991+7A= (n.991+7A=) | |
9 | g.127824794G>A | CA2691808554 | ENG | c.445+6C>T (n.445+6C>T) c.991+6C>T (n.991+6C>T) | gnomAD v4 |
9 | g.127824794G>T | CA2839015794 | ENG | c.445+6C>A (n.445+6C>A) c.991+6C>A (n.991+6C>A) | |
9 | g.127824795C>A | CA2691808556 | ENG | c.445+5G>T (n.445+5G>T) c.991+5G>T (n.991+5G>T) | gnomAD v4 |
9 | g.127824795C>T | CA2691808558 | ENG | c.445+5G>A (n.445+5G>A) c.991+5G>A (n.991+5G>A) | gnomAD v4 |
9 | g.127824796T>A | CA2691808560 | ENG | c.445+4A>T (n.445+4A>T) c.991+4A>T (n.991+4A>T) | gnomAD v4 |
9 | g.127824796T>C | CA2573143993 | ENG | c.445+4A>G (n.445+4A>G) c.991+4A>G (n.991+4A>G) | ClinVar dbSNP |
9 | g.127824797C>A | CA2691808563 | ENG | c.445+3G>T (n.445+3G>T) c.991+3G>T (n.991+3G>T) | gnomAD v4 |
9 | g.127824797C= | CA1879973346 | ENG | c.445+3G= (n.445+3G=) c.991+3G= (n.991+3G=) | |
9 | g.127824797C>T | CA5252927 | ENG | c.445+3G>A (n.445+3G>A) c.991+3G>A (n.991+3G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127824798A= | CA1879973357 | ENG | c.445+2T= (n.445+2T=) c.991+2T= (n.991+2T=) | |
9 | g.127824798A>C | CA374981834 | ENG | c.445+2T>G (n.445+2T>G) c.991+2T>G (n.991+2T>G) | ClinVar dbSNP |
9 | g.127824798A>G | CA374981837 | ENG | c.445+2T>C (n.445+2T>C) c.991+2T>C (n.991+2T>C) | ClinVar dbSNP |
9 | g.127824798A>T | CA374981840 | ENG | c.445+2T>A (n.445+2T>A) c.991+2T>A (n.991+2T>A) | ClinVar |
9 | g.127824799C>A | CA374981851 | ENG | c.445+1G>T (n.445+1G>T) c.991+1G>T (n.991+1G>T) | gnomAD v4 |
9 | g.127824799C>G | CA374981852 | ENG | c.445+1G>C (n.445+1G>C) c.991+1G>C (n.991+1G>C) | ClinVar |
9 | g.127824799C>T | CA374981854 | ENG | c.445+1G>A (n.445+1G>A) c.991+1G>A (n.991+1G>A) | |
9 | g.127824800del | CA2739265075 | ENG | c.445+1del c.991+1del | ClinVar |
9 | g.127824800C>A | CA374981858 | ENG | c.445G>T (p.Gly149Cys) c.991G>T (p.Gly331Cys) | gnomAD v4 |
9 | g.127824800C= | CA1879973363 | ENG | c.445G= (p.Gly149=) c.991G= (p.Gly331=) | |
9 | g.127824800C>G | CA374981859 | ENG | c.445G>C (p.Gly149Arg) c.991G>C (p.Gly331Arg) | |
9 | g.127824800C>T | CA16612528 | ENG | c.445G>A (p.Gly149Ser) c.991G>A (p.Gly331Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
9 | g.127824801del | CA2695211246 | ENG | c.444del (p.Cys148TrpfsTer29) c.990del (p.Cys330TrpfsTer29) | |
9 | g.127824801G>A | CA5252928 | ENG | c.444C>T (p.Cys148=) c.990C>T (p.Cys330=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824801G>C | CA374981862 | ENG | c.444C>G (p.Cys148Trp) c.990C>G (p.Cys330Trp) | |
9 | g.127824801G= | CA1879973371 | ENG | c.444C= (p.Cys148=) c.990C= (p.Cys330=) | |
9 | g.127824801G>T | CA374981863 | ENG | c.444C>A (p.Cys148Ter) c.990C>A (p.Cys330Ter) | ClinVar |
9 | g.127824802C>A | CA374981865 | ENG | c.443G>T (p.Cys148Phe) c.989G>T (p.Cys330Phe) | ClinVar |
9 | g.127824802C>G | CA374981872 | ENG | c.443G>C (p.Cys148Ser) c.989G>C (p.Cys330Ser) | |
9 | g.127824802C>T | CA374981876 | ENG | c.443G>A (p.Cys148Tyr) c.989G>A (p.Cys330Tyr) | gnomAD v4 |
9 | g.127824803A>C | CA374981880 | ENG | c.442T>G (p.Cys148Gly) c.988T>G (p.Cys330Gly) | |
9 | g.127824803A>G | CA374981878 | ENG | c.442T>C (p.Cys148Arg) c.988T>C (p.Cys330Arg) | gnomAD v4 |
9 | g.127824803A>T | CA374981879 | ENG | c.442T>A (p.Cys148Ser) c.988T>A (p.Cys330Ser) | |
9 | g.127824804G>A | CA467230892 | ENG | c.441C>T (p.Ser147=) c.987C>T (p.Ser329=) | |
9 | g.127824804G>C | CA374981881 | ENG | c.441C>G (p.Ser147Arg) c.987C>G (p.Ser329Arg) | |
9 | g.127824804G>T | CA374981882 | ENG | c.441C>A (p.Ser147Arg) c.987C>A (p.Ser329Arg) | |
9 | g.127824805C>A | CA374981884 | ENG | c.440G>T (p.Ser147Ile) c.986G>T (p.Ser329Ile) | gnomAD v4 |
9 | g.127824805C>G | CA374981886 | ENG | c.440G>C (p.Ser147Thr) c.986G>C (p.Ser329Thr) | |
9 | g.127824805C>T | CA374981887 | ENG | c.440G>A (p.Ser147Asn) c.986G>A (p.Ser329Asn) | |
9 | g.127824805dup | CA2840996412 | ENG | c.440dup (p.Ser147ArgfsTer5) c.986dup (p.Ser329ArgfsTer5) | |
9 | g.127824806T>A | CA374981908 | ENG | c.439A>T (p.Ser147Cys) c.985A>T (p.Ser329Cys) | ClinVar dbSNP |
9 | g.127824806T>C | CA374981915 | ENG | c.439A>G (p.Ser147Gly) c.985A>G (p.Ser329Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824806T>G | CA374981910 | ENG | c.439A>C (p.Ser147Arg) c.985A>C (p.Ser329Arg) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127824806T= | CA1879973377 | ENG | c.439A= (p.Ser147=) c.985A= (p.Ser329=) | |
9 | g.127824807G>A | CA467230893 | ENG | c.438C>T (p.Ser146=) c.984C>T (p.Ser328=) | |
9 | g.127824807G>C | CA467230894 | ENG | c.438C>G (p.Ser146=) c.984C>G (p.Ser328=) | |
9 | g.127824807G>T | CA467230895 | ENG | c.438C>A (p.Ser146=) c.984C>A (p.Ser328=) | |
9 | g.127824807_127824808delinsCT | CA915947173 | ENG | c.437_438delinsAG (p.Ser146Ter) c.983_984delinsAG (p.Ser328Ter) | ClinVar dbSNP |
9 | g.127824807_127824808delinsGG | CA1879973390 | ENG | c.437_438delinsCC (p.Ser146=) c.983_984delinsCC (p.Ser328=) | |
9 | g.127824808dup | CA2839957049 | ENG | c.438dup (p.Ser147GlnfsTer5) c.984dup (p.Ser329GlnfsTer5) | |
9 | g.127824808G>A | CA374981918 | ENG | c.437C>T (p.Ser146Phe) c.983C>T (p.Ser328Phe) | |
9 | g.127824808G>C | CA374981921 | ENG | c.437C>G (p.Ser146Cys) c.983C>G (p.Ser328Cys) | |
9 | g.127824808G>T | CA374981924 | ENG | c.437C>A (p.Ser146Tyr) c.983C>A (p.Ser328Tyr) | |
9 | g.127824809A>C | CA374981927 | ENG | c.436T>G (p.Ser146Ala) c.982T>G (p.Ser328Ala) | |
9 | g.127824809A>G | CA374981929 | ENG | c.436T>C (p.Ser146Pro) c.982T>C (p.Ser328Pro) | |
9 | g.127824809A>T | CA374981931 | ENG | c.436T>A (p.Ser146Thr) c.982T>A (p.Ser328Thr) | ClinVar |
9 | g.127824809_127824810delinsAG | CA1879973393 | ENG | c.435_436delinsCT (p.Ala145=) c.981_982delinsCT (p.Ala327=) | |
9 | g.127824810_127824813dup | CA2695211247 | ENG | c.433_436dup (p.Ser146CysfsTer7) c.979_982dup (p.Ser328CysfsTer7) | |
9 | g.127824810G>A | CA467230896 | ENG | c.435C>T (p.Ala145=) c.981C>T (p.Ala327=) | gnomAD v4 COSMIC COSMIC |
9 | g.127824810G>C | CA467230897 | ENG | c.435C>G (p.Ala145=) c.981C>G (p.Ala327=) | |
9 | g.127824810G>T | CA467230898 | ENG | c.435C>A (p.Ala145=) c.981C>A (p.Ala327=) | gnomAD v4 |
9 | g.127824811del | CA5252929 | ENG | c.435del (p.Ser146ProfsTer?) c.981del (p.Ser328ProfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127824811G>A | CA374981934 | ENG | c.434C>T (p.Ala145Val) c.980C>T (p.Ala327Val) | gnomAD v4 |
9 | g.127824811G>C | CA374981935 | ENG | c.434C>G (p.Ala145Gly) c.980C>G (p.Ala327Gly) | |
9 | g.127824811G= | CA1879973399 | ENG | c.434C= (p.Ala145=) c.980C= (p.Ala327=) | |
9 | g.127824811G>T | CA200313005 | ENG | c.434C>A (p.Ala145Asp) c.980C>A (p.Ala327Asp) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127824812C>A | CA374981953 | ENG | c.433G>T (p.Ala145Ser) c.979G>T (p.Ala327Ser) | gnomAD v4 |
9 | g.127824812C= | CA1879973403 | ENG | c.433G= (p.Ala145=) c.979G= (p.Ala327=) | |
9 | g.127824812C>G | CA374981951 | ENG | c.433G>C (p.Ala145Pro) c.979G>C (p.Ala327Pro) | |
9 | g.127824812C>T | CA374981941 | ENG | c.433G>A (p.Ala145Thr) c.979G>A (p.Ala327Thr) | dbSNP gnomAD v4 |
9 | g.127824813A= | CA1879973408 | ENG | c.432T= (p.His144=) c.978T= (p.His326=) | |
9 | g.127824813A>C | CA374981954 | ENG | c.432T>G (p.His144Gln) c.978T>G (p.His326Gln) | |
9 | g.127824813A>G | CA467230899 | ENG | c.432T>C (p.His144=) c.978T>C (p.His326=) | dbSNP |
9 | g.127824813A>T | CA374981955 | ENG | c.432T>A (p.His144Gln) c.978T>A (p.His326Gln) | |
9 | g.127824814T>A | CA374981957 | ENG | c.431A>T (p.His144Leu) c.977A>T (p.His326Leu) | |
9 | g.127824814T>C | CA374981959 | ENG | c.431A>G (p.His144Arg) c.977A>G (p.His326Arg) | dbSNP |
9 | g.127824814T>G | CA374981965 | ENG | c.431A>C (p.His144Pro) c.977A>C (p.His326Pro) | |
9 | g.127824814T= | CA1879973412 | ENG | c.431A= (p.His144=) c.977A= (p.His326=) | |
9 | g.127824815G>A | CA374981969 | ENG | c.430C>T (p.His144Tyr) c.976C>T (p.His326Tyr) | gnomAD v4 COSMIC COSMIC |
9 | g.127824815G>C | CA374981972 | ENG | c.430C>G (p.His144Asp) c.976C>G (p.His326Asp) | |
9 | g.127824815G>T | CA374981974 | ENG | c.430C>A (p.His144Asn) c.976C>A (p.His326Asn) | |
9 | g.127824816A= | CA1879973420 | ENG | c.429T= (p.Leu143=) c.975T= (p.Leu325=) | |
9 | g.127824816A>C | CA5252930 | ENG | c.429T>G (p.Leu143=) c.975T>G (p.Leu325=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824816A>G | CA467230900 | ENG | c.429T>C (p.Leu143=) c.975T>C (p.Leu325=) | |
9 | g.127824816A>T | CA467230901 | ENG | c.429T>A (p.Leu143=) c.975T>A (p.Leu325=) | |
9 | g.127824817A= | CA1879973429 | ENG | c.428T= (p.Leu143=) c.974T= (p.Leu325=) | |
9 | g.127824817A>C | CA374981980 | ENG | c.428T>G (p.Leu143Arg) c.974T>G (p.Leu325Arg) | ClinVar dbSNP |
9 | g.127824817A>G | CA374981983 | ENG | c.428T>C (p.Leu143Pro) c.974T>C (p.Leu325Pro) | |
9 | g.127824817A>T | CA5252931 | ENG | c.428T>A (p.Leu143His) c.974T>A (p.Leu325His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824818G>A | CA374981988 | ENG | c.427C>T (p.Leu143Phe) c.973C>T (p.Leu325Phe) | |
9 | g.127824818G>C | CA374981992 | ENG | c.427C>G (p.Leu143Val) c.973C>G (p.Leu325Val) | |
9 | g.127824818G>T | CA374981994 | ENG | c.427C>A (p.Leu143Ile) c.973C>A (p.Leu325Ile) | |
9 | g.127824818dup | CA2580079632 | ENG | c.427dup (p.Leu143ProfsTer9) c.973dup (p.Leu325ProfsTer9) | ClinVar |
9 | g.127824819T>A | CA467230904 | ENG | c.426A>T (p.Ser142=) c.972A>T (p.Ser324=) | |
9 | g.127824819T>C | CA467230903 | ENG | c.426A>G (p.Ser142=) c.972A>G (p.Ser324=) | |
9 | g.127824819T>G | CA467230902 | ENG | c.426A>C (p.Ser142=) c.972A>C (p.Ser324=) | |
9 | g.127824820G>A | CA374982003 | ENG | c.425C>T (p.Ser142Leu) c.971C>T (p.Ser324Leu) | |
9 | g.127824820G>C | CA374982001 | ENG | c.425C>G (p.Ser142Ter) c.971C>G (p.Ser324Ter) | |
9 | g.127824820G>T | CA374981999 | ENG | c.425C>A (p.Ser142Ter) c.971C>A (p.Ser324Ter) | gnomAD v4 |
9 | g.127824821A= | CA1879973439 | ENG | c.424T= (p.Ser142=) c.970T= (p.Ser324=) | |
9 | g.127824821A>C | CA374982006 | ENG | c.424T>G (p.Ser142Ala) c.970T>G (p.Ser324Ala) | |
9 | g.127824821A>G | CA374982011 | ENG | c.424T>C (p.Ser142Pro) c.970T>C (p.Ser324Pro) | ClinVar dbSNP |
9 | g.127824821A>T | CA374982013 | ENG | c.424T>A (p.Ser142Thr) c.970T>A (p.Ser324Thr) | |
9 | g.127824822G>A | CA467230905 | ENG | c.423C>T (p.Val141=) c.969C>T (p.Val323=) | |
9 | g.127824822G>C | CA467230906 | ENG | c.423C>G (p.Val141=) c.969C>G (p.Val323=) | |
9 | g.127824822G>T | CA467230907 | ENG | c.423C>A (p.Val141=) c.969C>A (p.Val323=) | gnomAD v4 |
9 | g.127824822_127824824delinsGAC | CA1879973444 | ENG | c.421_423delinsGTC (p.Val141=) c.967_969delinsGTC (p.Val323=) | |
9 | g.127824823A>C | CA374982018 | ENG | c.422T>G (p.Val141Gly) c.968T>G (p.Val323Gly) | |
9 | g.127824823A>G | CA374982020 | ENG | c.422T>C (p.Val141Ala) c.968T>C (p.Val323Ala) | gnomAD v4 |
9 | g.127824823A>T | CA374982024 | ENG | c.422T>A (p.Val141Asp) c.968T>A (p.Val323Asp) | |
9 | g.127824823dup | CA2695211251 | ENG | c.422dup (p.Ser142LeufsTer10) c.968dup (p.Ser324LeufsTer10) | |
9 | g.127824824_127824825del | CA1139661207 | ENG | c.421_422del (p.Val141LeufsTer10) c.967_968del (p.Val323LeufsTer10) | ClinVar dbSNP |
9 | g.127824834_127824869del | CA2573053101 | ENG | c.387_422del (p.Ala130_Val141del) c.933_968del (p.Ala312_Val323del) | ClinVar dbSNP |
9 | g.127824824C>A | CA374982025 | ENG | c.421G>T (p.Val141Phe) c.967G>T (p.Val323Phe) | |
9 | g.127824824C= | CA1879973452 | ENG | c.421G= (p.Val141=) c.967G= (p.Val323=) | |
9 | g.127824824C>G | CA374982026 | ENG | c.421G>C (p.Val141Leu) c.967G>C (p.Val323Leu) | |
9 | g.127824824C>T | CA374982027 | ENG | c.421G>A (p.Val141Ile) c.967G>A (p.Val323Ile) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127824825A= | CA1879973464 | ENG | c.420T= (p.Ile140=) c.966T= (p.Ile322=) | |
9 | g.127824825A>C | CA200313014 | ENG | c.420T>G (p.Ile140Met) c.966T>G (p.Ile322Met) | ClinVar dbSNP gnomAD v4 |
9 | g.127824825A>G | CA467230908 | ENG | c.420T>C (p.Ile140=) c.966T>C (p.Ile322=) | |
9 | g.127824825A>T | CA467230909 | ENG | c.420T>A (p.Ile140=) c.966T>A (p.Ile322=) | |
9 | g.127824825_127824826del | CA2695211253 | ENG | c.419_420del (p.Ile140SerfsTer11) c.965_966del (p.Ile322SerfsTer11) | ClinVar |
9 | g.127824826dup | CA2580079633 | ENG | c.420dup (p.Val141CysfsTer11) c.966dup (p.Val323CysfsTer11) | ClinVar |
9 | g.127824826A= | CA1879973469 | ENG | c.419T= (p.Ile140=) c.965T= (p.Ile322=) | |
9 | g.127824826A>C | CA374982031 | ENG | c.419T>G (p.Ile140Ser) c.965T>G (p.Ile322Ser) | gnomAD v4 |
9 | g.127824826A>G | CA5252932 | ENG | c.419T>C (p.Ile140Thr) c.965T>C (p.Ile322Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824826A>T | CA374982034 | ENG | c.419T>A (p.Ile140Asn) c.965T>A (p.Ile322Asn) |