Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112839169_112841264delCA645543580APCc.3629_5724del (p.Lys1210ArgfsTer3)
c.*3581_*5676del (n.*3581_*5676del)
c.3521_5616del (p.Lys1174ArgfsTer3)
c.3575_5670del (p.Lys1192ArgfsTer3)
c.*2897_*4992del (n.*2897_*4992del)
c.230+10197_230+12292del
c.3605_5700del (p.Lys1202ArgfsTer3)
c.3500_5595del (p.Lys1167ArgfsTer3)
c.3491_5586del (p.Lys1164ArgfsTer3)
c.3452_5547del (p.Lys1151ArgfsTer3)
c.3398_5493del (p.Lys1133ArgfsTer3)
c.3302_5397del (p.Lys1101ArgfsTer3)
c.3272_5367del (p.Lys1091ArgfsTer3)
c.3197_5292del (p.Lys1066ArgfsTer3)
c.3095_5190del (p.Lys1032ArgfsTer3)
c.2726_4821del (p.Lys909ArgfsTer3)
COSMIC
5g.112840128_112843000delCA2582341313APCc.4588_7460del (p.Asp1530Ter)
c.*4540_*7412del (n.*4540_*7412del)
c.4480_7352del (p.Asp1494Ter)
c.4534_7406del (p.Asp1512Ter)
c.230+11156_231-13649del
c.4564_7436del (p.Asp1522Ter)
c.4459_7331del (p.Asp1487Ter)
c.4450_7322del (p.Asp1484Ter)
c.4411_7283del (p.Asp1471Ter)
c.4357_7229del (p.Asp1453Ter)
c.4261_7133del (p.Asp1421Ter)
c.4231_7103del (p.Asp1411Ter)
c.4156_7028del (p.Asp1386Ter)
c.4054_6926del (p.Asp1352Ter)
c.3685_6557del (p.Asp1229Ter)
ClinVar
5g.112840828_112841134delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACCA1573474922APCc.5288_5594delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1763=)
c.*5240_*5546delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (n.*5240_*5546delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC)
c.5180_5486delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1727=)
c.5234_5540delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1745=)
c.*4556_*4862delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (n.*4556_*4862delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC)
c.230+11856_230+12162delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC
c.5264_5570delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1755=)
c.5159_5465delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1720=)
c.5150_5456delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1717=)
c.5111_5417delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1704=)
c.5057_5363delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1686=)
c.4961_5267delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1654=)
c.4931_5237delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1644=)
c.4856_5162delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1619=)
c.4754_5060delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1585=)
c.4385_4691delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1462=)
5g.112840830_112841135delCA1139659018APCc.5290_5595del (p.Ile1764_Thr1865del)
c.*5242_*5547del (n.*5242_*5547del)
c.5182_5487del (p.Ile1728_Thr1829del)
c.5236_5541del (p.Ile1746_Thr1847del)
c.*4558_*4863del (n.*4558_*4863del)
c.230+11858_230+12163del
c.5266_5571del (p.Ile1756_Thr1857del)
c.5161_5466del (p.Ile1721_Thr1822del)
c.5152_5457del (p.Ile1718_Thr1819del)
c.5113_5418del (p.Ile1705_Thr1806del)
c.5059_5364del (p.Ile1687_Thr1788del)
c.4963_5268del (p.Ile1655_Thr1756del)
c.4933_5238del (p.Ile1645_Thr1746del)
c.4858_5163del (p.Ile1620_Thr1721del)
c.4756_5061del (p.Ile1586_Thr1687del)
c.4387_4692del (p.Ile1463_Thr1564del)
ClinVar dbSNP
5g.112840984dupCA446208834APCc.5444dup (p.Asn1815LysfsTer2)
c.*5396dup (n.*5396dup)
c.5336dup (p.Asn1779LysfsTer2)
c.5390dup (p.Asn1797LysfsTer2)
c.*4712dup (n.*4712dup)
c.230+12012dup
c.5420dup (p.Asn1807LysfsTer2)
c.5315dup (p.Asn1772LysfsTer2)
c.5306dup (p.Asn1769LysfsTer2)
c.5267dup (p.Asn1756LysfsTer2)
c.5213dup (p.Asn1738LysfsTer2)
c.5117dup (p.Asn1706LysfsTer2)
c.5087dup (p.Asn1696LysfsTer2)
c.5012dup (p.Asn1671LysfsTer2)
c.4910dup (p.Asn1637LysfsTer2)
c.4541dup (p.Asn1514LysfsTer2)
ClinVar gnomAD v4 COSMIC
5g.112840980A=CA1573476034APCc.5440A= (p.Lys1814=)
c.*5392A= (n.*5392A=)
c.5332A= (p.Lys1778=)
c.5386A= (p.Lys1796=)
c.*4708A= (n.*4708A=)
c.230+12008A=
c.5416A= (p.Lys1806=)
c.5311A= (p.Lys1771=)
c.5302A= (p.Lys1768=)
c.5263A= (p.Lys1755=)
c.5209A= (p.Lys1737=)
c.5113A= (p.Lys1705=)
c.5083A= (p.Lys1695=)
c.5008A= (p.Lys1670=)
c.4906A= (p.Lys1636=)
c.4537A= (p.Lys1513=)
5g.112840980A>CCA16033100APCc.5440A>C (p.Lys1814Gln)
c.*5392A>C (n.*5392A>C)
c.5332A>C (p.Lys1778Gln)
c.5386A>C (p.Lys1796Gln)
c.*4708A>C (n.*4708A>C)
c.230+12008A>C
c.5416A>C (p.Lys1806Gln)
c.5311A>C (p.Lys1771Gln)
c.5302A>C (p.Lys1768Gln)
c.5263A>C (p.Lys1755Gln)
c.5209A>C (p.Lys1737Gln)
c.5113A>C (p.Lys1705Gln)
c.5083A>C (p.Lys1695Gln)
c.5008A>C (p.Lys1670Gln)
c.4906A>C (p.Lys1636Gln)
c.4537A>C (p.Lys1513Gln)
5g.112840980A>GCA16033101APCc.5440A>G (p.Lys1814Glu)
c.*5392A>G (n.*5392A>G)
c.5332A>G (p.Lys1778Glu)
c.5386A>G (p.Lys1796Glu)
c.*4708A>G (n.*4708A>G)
c.230+12008A>G
c.5416A>G (p.Lys1806Glu)
c.5311A>G (p.Lys1771Glu)
c.5302A>G (p.Lys1768Glu)
c.5263A>G (p.Lys1755Glu)
c.5209A>G (p.Lys1737Glu)
c.5113A>G (p.Lys1705Glu)
c.5083A>G (p.Lys1695Glu)
c.5008A>G (p.Lys1670Glu)
c.4906A>G (p.Lys1636Glu)
c.4537A>G (p.Lys1513Glu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112840980A>TCA16033102APCc.5440A>T (p.Lys1814Ter)
c.*5392A>T (n.*5392A>T)
c.5332A>T (p.Lys1778Ter)
c.5386A>T (p.Lys1796Ter)
c.*4708A>T (n.*4708A>T)
c.230+12008A>T
c.5416A>T (p.Lys1806Ter)
c.5311A>T (p.Lys1771Ter)
c.5302A>T (p.Lys1768Ter)
c.5263A>T (p.Lys1755Ter)
c.5209A>T (p.Lys1737Ter)
c.5113A>T (p.Lys1705Ter)
c.5083A>T (p.Lys1695Ter)
c.5008A>T (p.Lys1670Ter)
c.4906A>T (p.Lys1636Ter)
c.4537A>T (p.Lys1513Ter)
5g.112840981A=CA1573476043APCc.5441A= (p.Lys1814=)
c.*5393A= (n.*5393A=)
c.5333A= (p.Lys1778=)
c.5387A= (p.Lys1796=)
c.*4709A= (n.*4709A=)
c.230+12009A=
c.5417A= (p.Lys1806=)
c.5312A= (p.Lys1771=)
c.5303A= (p.Lys1768=)
c.5264A= (p.Lys1755=)
c.5210A= (p.Lys1737=)
c.5114A= (p.Lys1705=)
c.5084A= (p.Lys1695=)
c.5009A= (p.Lys1670=)
c.4907A= (p.Lys1636=)
c.4538A= (p.Lys1513=)
5g.112840981A>CCA16033103APCc.5441A>C (p.Lys1814Thr)
c.*5393A>C (n.*5393A>C)
c.5333A>C (p.Lys1778Thr)
c.5387A>C (p.Lys1796Thr)
c.*4709A>C (n.*4709A>C)
c.230+12009A>C
c.5417A>C (p.Lys1806Thr)
c.5312A>C (p.Lys1771Thr)
c.5303A>C (p.Lys1768Thr)
c.5264A>C (p.Lys1755Thr)
c.5210A>C (p.Lys1737Thr)
c.5114A>C (p.Lys1705Thr)
c.5084A>C (p.Lys1695Thr)
c.5009A>C (p.Lys1670Thr)
c.4907A>C (p.Lys1636Thr)
c.4538A>C (p.Lys1513Thr)
5g.112840981A>GCA16033104APCc.5441A>G (p.Lys1814Arg)
c.*5393A>G (n.*5393A>G)
c.5333A>G (p.Lys1778Arg)
c.5387A>G (p.Lys1796Arg)
c.*4709A>G (n.*4709A>G)
c.230+12009A>G
c.5417A>G (p.Lys1806Arg)
c.5312A>G (p.Lys1771Arg)
c.5303A>G (p.Lys1768Arg)
c.5264A>G (p.Lys1755Arg)
c.5210A>G (p.Lys1737Arg)
c.5114A>G (p.Lys1705Arg)
c.5084A>G (p.Lys1695Arg)
c.5009A>G (p.Lys1670Arg)
c.4907A>G (p.Lys1636Arg)
c.4538A>G (p.Lys1513Arg)
dbSNP gnomAD v3 gnomAD v4
5g.112840981A>TCA16033105APCc.5441A>T (p.Lys1814Ile)
c.*5393A>T (n.*5393A>T)
c.5333A>T (p.Lys1778Ile)
c.5387A>T (p.Lys1796Ile)
c.*4709A>T (n.*4709A>T)
c.230+12009A>T
c.5417A>T (p.Lys1806Ile)
c.5312A>T (p.Lys1771Ile)
c.5303A>T (p.Lys1768Ile)
c.5264A>T (p.Lys1755Ile)
c.5210A>T (p.Lys1737Ile)
c.5114A>T (p.Lys1705Ile)
c.5084A>T (p.Lys1695Ile)
c.5009A>T (p.Lys1670Ile)
c.4907A>T (p.Lys1636Ile)
c.4538A>T (p.Lys1513Ile)
ClinVar dbSNP gnomAD v4
5g.112840982A>CCA16033106APCc.5442A>C (p.Lys1814Asn)
c.*5394A>C (n.*5394A>C)
c.5334A>C (p.Lys1778Asn)
c.5388A>C (p.Lys1796Asn)
c.*4710A>C (n.*4710A>C)
c.230+12010A>C
c.5418A>C (p.Lys1806Asn)
c.5313A>C (p.Lys1771Asn)
c.5304A>C (p.Lys1768Asn)
c.5265A>C (p.Lys1755Asn)
c.5211A>C (p.Lys1737Asn)
c.5115A>C (p.Lys1705Asn)
c.5085A>C (p.Lys1695Asn)
c.5010A>C (p.Lys1670Asn)
c.4908A>C (p.Lys1636Asn)
c.4539A>C (p.Lys1513Asn)
5g.112840982A>GCA446208837APCc.5442A>G (p.Lys1814=)
c.*5394A>G (n.*5394A>G)
c.5334A>G (p.Lys1778=)
c.5388A>G (p.Lys1796=)
c.*4710A>G (n.*4710A>G)
c.230+12010A>G
c.5418A>G (p.Lys1806=)
c.5313A>G (p.Lys1771=)
c.5304A>G (p.Lys1768=)
c.5265A>G (p.Lys1755=)
c.5211A>G (p.Lys1737=)
c.5115A>G (p.Lys1705=)
c.5085A>G (p.Lys1695=)
c.5010A>G (p.Lys1670=)
c.4908A>G (p.Lys1636=)
c.4539A>G (p.Lys1513=)
5g.112840982A>TCA16033107APCc.5442A>T (p.Lys1814Asn)
c.*5394A>T (n.*5394A>T)
c.5334A>T (p.Lys1778Asn)
c.5388A>T (p.Lys1796Asn)
c.*4710A>T (n.*4710A>T)
c.230+12010A>T
c.5418A>T (p.Lys1806Asn)
c.5313A>T (p.Lys1771Asn)
c.5304A>T (p.Lys1768Asn)
c.5265A>T (p.Lys1755Asn)
c.5211A>T (p.Lys1737Asn)
c.5115A>T (p.Lys1705Asn)
c.5085A>T (p.Lys1695Asn)
c.5010A>T (p.Lys1670Asn)
c.4908A>T (p.Lys1636Asn)
c.4539A>T (p.Lys1513Asn)
dbSNP
5g.112840983A>CCA16033108APCc.5443A>C (p.Asn1815His)
c.*5395A>C (n.*5395A>C)
c.5335A>C (p.Asn1779His)
c.5389A>C (p.Asn1797His)
c.*4711A>C (n.*4711A>C)
c.230+12011A>C
c.5419A>C (p.Asn1807His)
c.5314A>C (p.Asn1772His)
c.5305A>C (p.Asn1769His)
c.5266A>C (p.Asn1756His)
c.5212A>C (p.Asn1738His)
c.5116A>C (p.Asn1706His)
c.5086A>C (p.Asn1696His)
c.5011A>C (p.Asn1671His)
c.4909A>C (p.Asn1637His)
c.4540A>C (p.Asn1514His)
gnomAD v4
5g.112840983A>GCA16033109APCc.5443A>G (p.Asn1815Asp)
c.*5395A>G (n.*5395A>G)
c.5335A>G (p.Asn1779Asp)
c.5389A>G (p.Asn1797Asp)
c.*4711A>G (n.*4711A>G)
c.230+12011A>G
c.5419A>G (p.Asn1807Asp)
c.5314A>G (p.Asn1772Asp)
c.5305A>G (p.Asn1769Asp)
c.5266A>G (p.Asn1756Asp)
c.5212A>G (p.Asn1738Asp)
c.5116A>G (p.Asn1706Asp)
c.5086A>G (p.Asn1696Asp)
c.5011A>G (p.Asn1671Asp)
c.4909A>G (p.Asn1637Asp)
c.4540A>G (p.Asn1514Asp)
5g.112840983A>TCA16033110APCc.5443A>T (p.Asn1815Tyr)
c.*5395A>T (n.*5395A>T)
c.5335A>T (p.Asn1779Tyr)
c.5389A>T (p.Asn1797Tyr)
c.*4711A>T (n.*4711A>T)
c.230+12011A>T
c.5419A>T (p.Asn1807Tyr)
c.5314A>T (p.Asn1772Tyr)
c.5305A>T (p.Asn1769Tyr)
c.5266A>T (p.Asn1756Tyr)
c.5212A>T (p.Asn1738Tyr)
c.5116A>T (p.Asn1706Tyr)
c.5086A>T (p.Asn1696Tyr)
c.5011A>T (p.Asn1671Tyr)
c.4909A>T (p.Asn1637Tyr)
c.4540A>T (p.Asn1514Tyr)
dbSNP
5g.112840984A=CA1573476053APCc.5444A= (p.Asn1815=)
c.*5396A= (n.*5396A=)
c.5336A= (p.Asn1779=)
c.5390A= (p.Asn1797=)
c.*4712A= (n.*4712A=)
c.230+12012A=
c.5420A= (p.Asn1807=)
c.5315A= (p.Asn1772=)
c.5306A= (p.Asn1769=)
c.5267A= (p.Asn1756=)
c.5213A= (p.Asn1738=)
c.5117A= (p.Asn1706=)
c.5087A= (p.Asn1696=)
c.5012A= (p.Asn1671=)
c.4910A= (p.Asn1637=)
c.4541A= (p.Asn1514=)
5g.112840984A>CCA16033111APCc.5444A>C (p.Asn1815Thr)
c.*5396A>C (n.*5396A>C)
c.5336A>C (p.Asn1779Thr)
c.5390A>C (p.Asn1797Thr)
c.*4712A>C (n.*4712A>C)
c.230+12012A>C
c.5420A>C (p.Asn1807Thr)
c.5315A>C (p.Asn1772Thr)
c.5306A>C (p.Asn1769Thr)
c.5267A>C (p.Asn1756Thr)
c.5213A>C (p.Asn1738Thr)
c.5117A>C (p.Asn1706Thr)
c.5087A>C (p.Asn1696Thr)
c.5012A>C (p.Asn1671Thr)
c.4910A>C (p.Asn1637Thr)
c.4541A>C (p.Asn1514Thr)
dbSNP gnomAD v4
5g.112840984A>GCA16033112APCc.5444A>G (p.Asn1815Ser)
c.*5396A>G (n.*5396A>G)
c.5336A>G (p.Asn1779Ser)
c.5390A>G (p.Asn1797Ser)
c.*4712A>G (n.*4712A>G)
c.230+12012A>G
c.5420A>G (p.Asn1807Ser)
c.5315A>G (p.Asn1772Ser)
c.5306A>G (p.Asn1769Ser)
c.5267A>G (p.Asn1756Ser)
c.5213A>G (p.Asn1738Ser)
c.5117A>G (p.Asn1706Ser)
c.5087A>G (p.Asn1696Ser)
c.5012A>G (p.Asn1671Ser)
c.4910A>G (p.Asn1637Ser)
c.4541A>G (p.Asn1514Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112840984A>TCA16033113APCc.5444A>T (p.Asn1815Ile)
c.*5396A>T (n.*5396A>T)
c.5336A>T (p.Asn1779Ile)
c.5390A>T (p.Asn1797Ile)
c.*4712A>T (n.*4712A>T)
c.230+12012A>T
c.5420A>T (p.Asn1807Ile)
c.5315A>T (p.Asn1772Ile)
c.5306A>T (p.Asn1769Ile)
c.5267A>T (p.Asn1756Ile)
c.5213A>T (p.Asn1738Ile)
c.5117A>T (p.Asn1706Ile)
c.5087A>T (p.Asn1696Ile)
c.5012A>T (p.Asn1671Ile)
c.4910A>T (p.Asn1637Ile)
c.4541A>T (p.Asn1514Ile)
dbSNP
5g.112840985T>ACA16033114APCc.5445T>A (p.Asn1815Lys)
c.*5397T>A (n.*5397T>A)
c.5337T>A (p.Asn1779Lys)
c.5391T>A (p.Asn1797Lys)
c.*4713T>A (n.*4713T>A)
c.230+12013T>A
c.5421T>A (p.Asn1807Lys)
c.5316T>A (p.Asn1772Lys)
c.5307T>A (p.Asn1769Lys)
c.5268T>A (p.Asn1756Lys)
c.5214T>A (p.Asn1738Lys)
c.5118T>A (p.Asn1706Lys)
c.5088T>A (p.Asn1696Lys)
c.5013T>A (p.Asn1671Lys)
c.4911T>A (p.Asn1637Lys)
c.4542T>A (p.Asn1514Lys)
dbSNP
5g.112840985T>CCA446208839APCc.5445T>C (p.Asn1815=)
c.*5397T>C (n.*5397T>C)
c.5337T>C (p.Asn1779=)
c.5391T>C (p.Asn1797=)
c.*4713T>C (n.*4713T>C)
c.230+12013T>C
c.5421T>C (p.Asn1807=)
c.5316T>C (p.Asn1772=)
c.5307T>C (p.Asn1769=)
c.5268T>C (p.Asn1756=)
c.5214T>C (p.Asn1738=)
c.5118T>C (p.Asn1706=)
c.5088T>C (p.Asn1696=)
c.5013T>C (p.Asn1671=)
c.4911T>C (p.Asn1637=)
c.4542T>C (p.Asn1514=)
dbSNP
5g.112840985T>GCA16033115APCc.5445T>G (p.Asn1815Lys)
c.*5397T>G (n.*5397T>G)
c.5337T>G (p.Asn1779Lys)
c.5391T>G (p.Asn1797Lys)
c.*4713T>G (n.*4713T>G)
c.230+12013T>G
c.5421T>G (p.Asn1807Lys)
c.5316T>G (p.Asn1772Lys)
c.5307T>G (p.Asn1769Lys)
c.5268T>G (p.Asn1756Lys)
c.5214T>G (p.Asn1738Lys)
c.5118T>G (p.Asn1706Lys)
c.5088T>G (p.Asn1696Lys)
c.5013T>G (p.Asn1671Lys)
c.4911T>G (p.Asn1637Lys)
c.4542T>G (p.Asn1514Lys)
dbSNP
5g.112840986A=CA1573476067APCc.5446A= (p.Asn1816=)
c.*5398A= (n.*5398A=)
c.5338A= (p.Asn1780=)
c.5392A= (p.Asn1798=)
c.*4714A= (n.*4714A=)
c.230+12014A=
c.5422A= (p.Asn1808=)
c.5317A= (p.Asn1773=)
c.5308A= (p.Asn1770=)
c.5269A= (p.Asn1757=)
c.5215A= (p.Asn1739=)
c.5119A= (p.Asn1707=)
c.5089A= (p.Asn1697=)
c.5014A= (p.Asn1672=)
c.4912A= (p.Asn1638=)
c.4543A= (p.Asn1515=)
5g.112840986A>CCA16033116APCc.5446A>C (p.Asn1816His)
c.*5398A>C (n.*5398A>C)
c.5338A>C (p.Asn1780His)
c.5392A>C (p.Asn1798His)
c.*4714A>C (n.*4714A>C)
c.230+12014A>C
c.5422A>C (p.Asn1808His)
c.5317A>C (p.Asn1773His)
c.5308A>C (p.Asn1770His)
c.5269A>C (p.Asn1757His)
c.5215A>C (p.Asn1739His)
c.5119A>C (p.Asn1707His)
c.5089A>C (p.Asn1697His)
c.5014A>C (p.Asn1672His)
c.4912A>C (p.Asn1638His)
c.4543A>C (p.Asn1515His)
ClinVar dbSNP gnomAD v4
5g.112840986A>GCA010373APCc.5446A>G (p.Asn1816Asp)
c.*5398A>G (n.*5398A>G)
c.5338A>G (p.Asn1780Asp)
c.5392A>G (p.Asn1798Asp)
c.*4714A>G (n.*4714A>G)
c.230+12014A>G
c.5422A>G (p.Asn1808Asp)
c.5317A>G (p.Asn1773Asp)
c.5308A>G (p.Asn1770Asp)
c.5269A>G (p.Asn1757Asp)
c.5215A>G (p.Asn1739Asp)
c.5119A>G (p.Asn1707Asp)
c.5089A>G (p.Asn1697Asp)
c.5014A>G (p.Asn1672Asp)
c.4912A>G (p.Asn1638Asp)
c.4543A>G (p.Asn1515Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840986A>TCA16033117APCc.5446A>T (p.Asn1816Tyr)
c.*5398A>T (n.*5398A>T)
c.5338A>T (p.Asn1780Tyr)
c.5392A>T (p.Asn1798Tyr)
c.*4714A>T (n.*4714A>T)
c.230+12014A>T
c.5422A>T (p.Asn1808Tyr)
c.5317A>T (p.Asn1773Tyr)
c.5308A>T (p.Asn1770Tyr)
c.5269A>T (p.Asn1757Tyr)
c.5215A>T (p.Asn1739Tyr)
c.5119A>T (p.Asn1707Tyr)
c.5089A>T (p.Asn1697Tyr)
c.5014A>T (p.Asn1672Tyr)
c.4912A>T (p.Asn1638Tyr)
c.4543A>T (p.Asn1515Tyr)
dbSNP
5g.112840987A>CCA16033118APCc.5447A>C (p.Asn1816Thr)
c.*5399A>C (n.*5399A>C)
c.5339A>C (p.Asn1780Thr)
c.5393A>C (p.Asn1798Thr)
c.*4715A>C (n.*4715A>C)
c.230+12015A>C
c.5423A>C (p.Asn1808Thr)
c.5318A>C (p.Asn1773Thr)
c.5309A>C (p.Asn1770Thr)
c.5270A>C (p.Asn1757Thr)
c.5216A>C (p.Asn1739Thr)
c.5120A>C (p.Asn1707Thr)
c.5090A>C (p.Asn1697Thr)
c.5015A>C (p.Asn1672Thr)
c.4913A>C (p.Asn1638Thr)
c.4544A>C (p.Asn1515Thr)
5g.112840987A>GCA16033119APCc.5447A>G (p.Asn1816Ser)
c.*5399A>G (n.*5399A>G)
c.5339A>G (p.Asn1780Ser)
c.5393A>G (p.Asn1798Ser)
c.*4715A>G (n.*4715A>G)
c.230+12015A>G
c.5423A>G (p.Asn1808Ser)
c.5318A>G (p.Asn1773Ser)
c.5309A>G (p.Asn1770Ser)
c.5270A>G (p.Asn1757Ser)
c.5216A>G (p.Asn1739Ser)
c.5120A>G (p.Asn1707Ser)
c.5090A>G (p.Asn1697Ser)
c.5015A>G (p.Asn1672Ser)
c.4913A>G (p.Asn1638Ser)
c.4544A>G (p.Asn1515Ser)
5g.112840987A>TCA16033120APCc.5447A>T (p.Asn1816Ile)
c.*5399A>T (n.*5399A>T)
c.5339A>T (p.Asn1780Ile)
c.5393A>T (p.Asn1798Ile)
c.*4715A>T (n.*4715A>T)
c.230+12015A>T
c.5423A>T (p.Asn1808Ile)
c.5318A>T (p.Asn1773Ile)
c.5309A>T (p.Asn1770Ile)
c.5270A>T (p.Asn1757Ile)
c.5216A>T (p.Asn1739Ile)
c.5120A>T (p.Asn1707Ile)
c.5090A>T (p.Asn1697Ile)
c.5015A>T (p.Asn1672Ile)
c.4913A>T (p.Asn1638Ile)
c.4544A>T (p.Asn1515Ile)
5g.112840988T>ACA16033121APCc.5448T>A (p.Asn1816Lys)
c.*5400T>A (n.*5400T>A)
c.5340T>A (p.Asn1780Lys)
c.5394T>A (p.Asn1798Lys)
c.*4716T>A (n.*4716T>A)
c.230+12016T>A
c.5424T>A (p.Asn1808Lys)
c.5319T>A (p.Asn1773Lys)
c.5310T>A (p.Asn1770Lys)
c.5271T>A (p.Asn1757Lys)
c.5217T>A (p.Asn1739Lys)
c.5121T>A (p.Asn1707Lys)
c.5091T>A (p.Asn1697Lys)
c.5016T>A (p.Asn1672Lys)
c.4914T>A (p.Asn1638Lys)
c.4545T>A (p.Asn1515Lys)
dbSNP
5g.112840988T>CCA446208840APCc.5448T>C (p.Asn1816=)
c.*5400T>C (n.*5400T>C)
c.5340T>C (p.Asn1780=)
c.5394T>C (p.Asn1798=)
c.*4716T>C (n.*4716T>C)
c.230+12016T>C
c.5424T>C (p.Asn1808=)
c.5319T>C (p.Asn1773=)
c.5310T>C (p.Asn1770=)
c.5271T>C (p.Asn1757=)
c.5217T>C (p.Asn1739=)
c.5121T>C (p.Asn1707=)
c.5091T>C (p.Asn1697=)
c.5016T>C (p.Asn1672=)
c.4914T>C (p.Asn1638=)
c.4545T>C (p.Asn1515=)
5g.112840988T>GCA16033122APCc.5448T>G (p.Asn1816Lys)
c.*5400T>G (n.*5400T>G)
c.5340T>G (p.Asn1780Lys)
c.5394T>G (p.Asn1798Lys)
c.*4716T>G (n.*4716T>G)
c.230+12016T>G
c.5424T>G (p.Asn1808Lys)
c.5319T>G (p.Asn1773Lys)
c.5310T>G (p.Asn1770Lys)
c.5271T>G (p.Asn1757Lys)
c.5217T>G (p.Asn1739Lys)
c.5121T>G (p.Asn1707Lys)
c.5091T>G (p.Asn1697Lys)
c.5016T>G (p.Asn1672Lys)
c.4914T>G (p.Asn1638Lys)
c.4545T>G (p.Asn1515Lys)
5g.112840989T>ACA16033123APCc.5449T>A (p.Leu1817Ile)
c.*5401T>A (n.*5401T>A)
c.5341T>A (p.Leu1781Ile)
c.5395T>A (p.Leu1799Ile)
c.*4717T>A (n.*4717T>A)
c.230+12017T>A
c.5425T>A (p.Leu1809Ile)
c.5320T>A (p.Leu1774Ile)
c.5311T>A (p.Leu1771Ile)
c.5272T>A (p.Leu1758Ile)
c.5218T>A (p.Leu1740Ile)
c.5122T>A (p.Leu1708Ile)
c.5092T>A (p.Leu1698Ile)
c.5017T>A (p.Leu1673Ile)
c.4915T>A (p.Leu1639Ile)
c.4546T>A (p.Leu1516Ile)
dbSNP
5g.112840989T>CCA446208841APCc.5449T>C (p.Leu1817=)
c.*5401T>C (n.*5401T>C)
c.5341T>C (p.Leu1781=)
c.5395T>C (p.Leu1799=)
c.*4717T>C (n.*4717T>C)
c.230+12017T>C
c.5425T>C (p.Leu1809=)
c.5320T>C (p.Leu1774=)
c.5311T>C (p.Leu1771=)
c.5272T>C (p.Leu1758=)
c.5218T>C (p.Leu1740=)
c.5122T>C (p.Leu1708=)
c.5092T>C (p.Leu1698=)
c.5017T>C (p.Leu1673=)
c.4915T>C (p.Leu1639=)
c.4546T>C (p.Leu1516=)
5g.112840989T>GCA16033124APCc.5449T>G (p.Leu1817Val)
c.*5401T>G (n.*5401T>G)
c.5341T>G (p.Leu1781Val)
c.5395T>G (p.Leu1799Val)
c.*4717T>G (n.*4717T>G)
c.230+12017T>G
c.5425T>G (p.Leu1809Val)
c.5320T>G (p.Leu1774Val)
c.5311T>G (p.Leu1771Val)
c.5272T>G (p.Leu1758Val)
c.5218T>G (p.Leu1740Val)
c.5122T>G (p.Leu1708Val)
c.5092T>G (p.Leu1698Val)
c.5017T>G (p.Leu1673Val)
c.4915T>G (p.Leu1639Val)
c.4546T>G (p.Leu1516Val)
ClinVar
5g.112840990T>ACA16033125APCc.5450T>A (p.Leu1817Ter)
c.*5402T>A (n.*5402T>A)
c.5342T>A (p.Leu1781Ter)
c.5396T>A (p.Leu1799Ter)
c.*4718T>A (n.*4718T>A)
c.230+12018T>A
c.5426T>A (p.Leu1809Ter)
c.5321T>A (p.Leu1774Ter)
c.5312T>A (p.Leu1771Ter)
c.5273T>A (p.Leu1758Ter)
c.5219T>A (p.Leu1740Ter)
c.5123T>A (p.Leu1708Ter)
c.5093T>A (p.Leu1698Ter)
c.5018T>A (p.Leu1673Ter)
c.4916T>A (p.Leu1639Ter)
c.4547T>A (p.Leu1516Ter)
5g.112840990T>CCA16033126APCc.5450T>C (p.Leu1817Ser)
c.*5402T>C (n.*5402T>C)
c.5342T>C (p.Leu1781Ser)
c.5396T>C (p.Leu1799Ser)
c.*4718T>C (n.*4718T>C)
c.230+12018T>C
c.5426T>C (p.Leu1809Ser)
c.5321T>C (p.Leu1774Ser)
c.5312T>C (p.Leu1771Ser)
c.5273T>C (p.Leu1758Ser)
c.5219T>C (p.Leu1740Ser)
c.5123T>C (p.Leu1708Ser)
c.5093T>C (p.Leu1698Ser)
c.5018T>C (p.Leu1673Ser)
c.4916T>C (p.Leu1639Ser)
c.4547T>C (p.Leu1516Ser)
5g.112840990T>GCA16033127APCc.5450T>G (p.Leu1817Ter)
c.*5402T>G (n.*5402T>G)
c.5342T>G (p.Leu1781Ter)
c.5396T>G (p.Leu1799Ter)
c.*4718T>G (n.*4718T>G)
c.230+12018T>G
c.5426T>G (p.Leu1809Ter)
c.5321T>G (p.Leu1774Ter)
c.5312T>G (p.Leu1771Ter)
c.5273T>G (p.Leu1758Ter)
c.5219T>G (p.Leu1740Ter)
c.5123T>G (p.Leu1708Ter)
c.5093T>G (p.Leu1698Ter)
c.5018T>G (p.Leu1673Ter)
c.4916T>G (p.Leu1639Ter)
c.4547T>G (p.Leu1516Ter)
ClinVar
5g.112840991A>CCA16033128APCc.5451A>C (p.Leu1817Phe)
c.*5403A>C (n.*5403A>C)
c.5343A>C (p.Leu1781Phe)
c.5397A>C (p.Leu1799Phe)
c.*4719A>C (n.*4719A>C)
c.230+12019A>C
c.5427A>C (p.Leu1809Phe)
c.5322A>C (p.Leu1774Phe)
c.5313A>C (p.Leu1771Phe)
c.5274A>C (p.Leu1758Phe)
c.5220A>C (p.Leu1740Phe)
c.5124A>C (p.Leu1708Phe)
c.5094A>C (p.Leu1698Phe)
c.5019A>C (p.Leu1673Phe)
c.4917A>C (p.Leu1639Phe)
c.4548A>C (p.Leu1516Phe)
5g.112840991A>GCA446208843APCc.5451A>G (p.Leu1817=)
c.*5403A>G (n.*5403A>G)
c.5343A>G (p.Leu1781=)
c.5397A>G (p.Leu1799=)
c.*4719A>G (n.*4719A>G)
c.230+12019A>G
c.5427A>G (p.Leu1809=)
c.5322A>G (p.Leu1774=)
c.5313A>G (p.Leu1771=)
c.5274A>G (p.Leu1758=)
c.5220A>G (p.Leu1740=)
c.5124A>G (p.Leu1708=)
c.5094A>G (p.Leu1698=)
c.5019A>G (p.Leu1673=)
c.4917A>G (p.Leu1639=)
c.4548A>G (p.Leu1516=)
ClinVar
5g.112840991A>TCA16033129APCc.5451A>T (p.Leu1817Phe)
c.*5403A>T (n.*5403A>T)
c.5343A>T (p.Leu1781Phe)
c.5397A>T (p.Leu1799Phe)
c.*4719A>T (n.*4719A>T)
c.230+12019A>T
c.5427A>T (p.Leu1809Phe)
c.5322A>T (p.Leu1774Phe)
c.5313A>T (p.Leu1771Phe)
c.5274A>T (p.Leu1758Phe)
c.5220A>T (p.Leu1740Phe)
c.5124A>T (p.Leu1708Phe)
c.5094A>T (p.Leu1698Phe)
c.5019A>T (p.Leu1673Phe)
c.4917A>T (p.Leu1639Phe)
c.4548A>T (p.Leu1516Phe)
dbSNP
5g.112840992A>CCA16033130APCc.5452A>C (p.Asn1818His)
c.*5404A>C (n.*5404A>C)
c.5344A>C (p.Asn1782His)
c.5398A>C (p.Asn1800His)
c.*4720A>C (n.*4720A>C)
c.230+12020A>C
c.5428A>C (p.Asn1810His)
c.5323A>C (p.Asn1775His)
c.5314A>C (p.Asn1772His)
c.5275A>C (p.Asn1759His)
c.5221A>C (p.Asn1741His)
c.5125A>C (p.Asn1709His)
c.5095A>C (p.Asn1699His)
c.5020A>C (p.Asn1674His)
c.4918A>C (p.Asn1640His)
c.4549A>C (p.Asn1517His)
5g.112840992A>GCA16033131APCc.5452A>G (p.Asn1818Asp)
c.*5404A>G (n.*5404A>G)
c.5344A>G (p.Asn1782Asp)
c.5398A>G (p.Asn1800Asp)
c.*4720A>G (n.*4720A>G)
c.230+12020A>G
c.5428A>G (p.Asn1810Asp)
c.5323A>G (p.Asn1775Asp)
c.5314A>G (p.Asn1772Asp)
c.5275A>G (p.Asn1759Asp)
c.5221A>G (p.Asn1741Asp)
c.5125A>G (p.Asn1709Asp)
c.5095A>G (p.Asn1699Asp)
c.5020A>G (p.Asn1674Asp)
c.4918A>G (p.Asn1640Asp)
c.4549A>G (p.Asn1517Asp)
dbSNP
5g.112840992A>TCA16033132APCc.5452A>T (p.Asn1818Tyr)
c.*5404A>T (n.*5404A>T)
c.5344A>T (p.Asn1782Tyr)
c.5398A>T (p.Asn1800Tyr)
c.*4720A>T (n.*4720A>T)
c.230+12020A>T
c.5428A>T (p.Asn1810Tyr)
c.5323A>T (p.Asn1775Tyr)
c.5314A>T (p.Asn1772Tyr)
c.5275A>T (p.Asn1759Tyr)
c.5221A>T (p.Asn1741Tyr)
c.5125A>T (p.Asn1709Tyr)
c.5095A>T (p.Asn1699Tyr)
c.5020A>T (p.Asn1674Tyr)
c.4918A>T (p.Asn1640Tyr)
c.4549A>T (p.Asn1517Tyr)
dbSNP
5g.112840993A=CA1573476076APCc.5453A= (p.Asn1818=)
c.*5405A= (n.*5405A=)
c.5345A= (p.Asn1782=)
c.5399A= (p.Asn1800=)
c.*4721A= (n.*4721A=)
c.230+12021A=
c.5429A= (p.Asn1810=)
c.5324A= (p.Asn1775=)
c.5315A= (p.Asn1772=)
c.5276A= (p.Asn1759=)
c.5222A= (p.Asn1741=)
c.5126A= (p.Asn1709=)
c.5096A= (p.Asn1699=)
c.5021A= (p.Asn1674=)
c.4919A= (p.Asn1640=)
c.4550A= (p.Asn1517=)
5g.112840993A>CCA16033133APCc.5453A>C (p.Asn1818Thr)
c.*5405A>C (n.*5405A>C)
c.5345A>C (p.Asn1782Thr)
c.5399A>C (p.Asn1800Thr)
c.*4721A>C (n.*4721A>C)
c.230+12021A>C
c.5429A>C (p.Asn1810Thr)
c.5324A>C (p.Asn1775Thr)
c.5315A>C (p.Asn1772Thr)
c.5276A>C (p.Asn1759Thr)
c.5222A>C (p.Asn1741Thr)
c.5126A>C (p.Asn1709Thr)
c.5096A>C (p.Asn1699Thr)
c.5021A>C (p.Asn1674Thr)
c.4919A>C (p.Asn1640Thr)
c.4550A>C (p.Asn1517Thr)
ClinVar dbSNP

Number of alleles fetched