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)
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.112840882delCA645543988APCc.5342del (p.Asn1781IlefsTer3)
c.*5294del (n.*5294del)
c.5234del (p.Asn1745IlefsTer3)
c.5288del (p.Asn1763IlefsTer3)
c.*4610del (n.*4610del)
c.230+11910del
c.5318del (p.Asn1773IlefsTer3)
c.5213del (p.Asn1738IlefsTer3)
c.5204del (p.Asn1735IlefsTer3)
c.5165del (p.Asn1722IlefsTer3)
c.5111del (p.Asn1704IlefsTer3)
c.5015del (p.Asn1672IlefsTer3)
c.4985del (p.Asn1662IlefsTer3)
c.4910del (p.Asn1637IlefsTer3)
c.4808del (p.Asn1603IlefsTer3)
c.4439del (p.Asn1480IlefsTer3)
COSMIC
5g.112840880A=CA1573475302APCc.5340A= (p.Lys1780=)
c.*5292A= (n.*5292A=)
c.5232A= (p.Lys1744=)
c.5286A= (p.Lys1762=)
c.*4608A= (n.*4608A=)
c.230+11908A=
c.5316A= (p.Lys1772=)
c.5211A= (p.Lys1737=)
c.5202A= (p.Lys1734=)
c.5163A= (p.Lys1721=)
c.5109A= (p.Lys1703=)
c.5013A= (p.Lys1671=)
c.4983A= (p.Lys1661=)
c.4908A= (p.Lys1636=)
c.4806A= (p.Lys1602=)
c.4437A= (p.Lys1479=)
5g.112840880A>CCA16032884APCc.5340A>C (p.Lys1780Asn)
c.*5292A>C (n.*5292A>C)
c.5232A>C (p.Lys1744Asn)
c.5286A>C (p.Lys1762Asn)
c.*4608A>C (n.*4608A>C)
c.230+11908A>C
c.5316A>C (p.Lys1772Asn)
c.5211A>C (p.Lys1737Asn)
c.5202A>C (p.Lys1734Asn)
c.5163A>C (p.Lys1721Asn)
c.5109A>C (p.Lys1703Asn)
c.5013A>C (p.Lys1671Asn)
c.4983A>C (p.Lys1661Asn)
c.4908A>C (p.Lys1636Asn)
c.4806A>C (p.Lys1602Asn)
c.4437A>C (p.Lys1479Asn)
ClinVar dbSNP
5g.112840880A>GCA446208774APCc.5340A>G (p.Lys1780=)
c.*5292A>G (n.*5292A>G)
c.5232A>G (p.Lys1744=)
c.5286A>G (p.Lys1762=)
c.*4608A>G (n.*4608A>G)
c.230+11908A>G
c.5316A>G (p.Lys1772=)
c.5211A>G (p.Lys1737=)
c.5202A>G (p.Lys1734=)
c.5163A>G (p.Lys1721=)
c.5109A>G (p.Lys1703=)
c.5013A>G (p.Lys1671=)
c.4983A>G (p.Lys1661=)
c.4908A>G (p.Lys1636=)
c.4806A>G (p.Lys1602=)
c.4437A>G (p.Lys1479=)
dbSNP
5g.112840880A>TCA16032885APCc.5340A>T (p.Lys1780Asn)
c.*5292A>T (n.*5292A>T)
c.5232A>T (p.Lys1744Asn)
c.5286A>T (p.Lys1762Asn)
c.*4608A>T (n.*4608A>T)
c.230+11908A>T
c.5316A>T (p.Lys1772Asn)
c.5211A>T (p.Lys1737Asn)
c.5202A>T (p.Lys1734Asn)
c.5163A>T (p.Lys1721Asn)
c.5109A>T (p.Lys1703Asn)
c.5013A>T (p.Lys1671Asn)
c.4983A>T (p.Lys1661Asn)
c.4908A>T (p.Lys1636Asn)
c.4806A>T (p.Lys1602Asn)
c.4437A>T (p.Lys1479Asn)
dbSNP
5g.112840881A=CA1573475314APCc.5341A= (p.Asn1781=)
c.*5293A= (n.*5293A=)
c.5233A= (p.Asn1745=)
c.5287A= (p.Asn1763=)
c.*4609A= (n.*4609A=)
c.230+11909A=
c.5317A= (p.Asn1773=)
c.5212A= (p.Asn1738=)
c.5203A= (p.Asn1735=)
c.5164A= (p.Asn1722=)
c.5110A= (p.Asn1704=)
c.5014A= (p.Asn1672=)
c.4984A= (p.Asn1662=)
c.4909A= (p.Asn1637=)
c.4807A= (p.Asn1603=)
c.4438A= (p.Asn1480=)
5g.112840881A>CCA16032886APCc.5341A>C (p.Asn1781His)
c.*5293A>C (n.*5293A>C)
c.5233A>C (p.Asn1745His)
c.5287A>C (p.Asn1763His)
c.*4609A>C (n.*4609A>C)
c.230+11909A>C
c.5317A>C (p.Asn1773His)
c.5212A>C (p.Asn1738His)
c.5203A>C (p.Asn1735His)
c.5164A>C (p.Asn1722His)
c.5110A>C (p.Asn1704His)
c.5014A>C (p.Asn1672His)
c.4984A>C (p.Asn1662His)
c.4909A>C (p.Asn1637His)
c.4807A>C (p.Asn1603His)
c.4438A>C (p.Asn1480His)
5g.112840881A>GCA16032887APCc.5341A>G (p.Asn1781Asp)
c.*5293A>G (n.*5293A>G)
c.5233A>G (p.Asn1745Asp)
c.5287A>G (p.Asn1763Asp)
c.*4609A>G (n.*4609A>G)
c.230+11909A>G
c.5317A>G (p.Asn1773Asp)
c.5212A>G (p.Asn1738Asp)
c.5203A>G (p.Asn1735Asp)
c.5164A>G (p.Asn1722Asp)
c.5110A>G (p.Asn1704Asp)
c.5014A>G (p.Asn1672Asp)
c.4984A>G (p.Asn1662Asp)
c.4909A>G (p.Asn1637Asp)
c.4807A>G (p.Asn1603Asp)
c.4438A>G (p.Asn1480Asp)
ClinVar dbSNP
5g.112840881A>TCA16032888APCc.5341A>T (p.Asn1781Tyr)
c.*5293A>T (n.*5293A>T)
c.5233A>T (p.Asn1745Tyr)
c.5287A>T (p.Asn1763Tyr)
c.*4609A>T (n.*4609A>T)
c.230+11909A>T
c.5317A>T (p.Asn1773Tyr)
c.5212A>T (p.Asn1738Tyr)
c.5203A>T (p.Asn1735Tyr)
c.5164A>T (p.Asn1722Tyr)
c.5110A>T (p.Asn1704Tyr)
c.5014A>T (p.Asn1672Tyr)
c.4984A>T (p.Asn1662Tyr)
c.4909A>T (p.Asn1637Tyr)
c.4807A>T (p.Asn1603Tyr)
c.4438A>T (p.Asn1480Tyr)
dbSNP
5g.112840882A=CA1573475320APCc.5342A= (p.Asn1781=)
c.*5294A= (n.*5294A=)
c.5234A= (p.Asn1745=)
c.5288A= (p.Asn1763=)
c.*4610A= (n.*4610A=)
c.230+11910A=
c.5318A= (p.Asn1773=)
c.5213A= (p.Asn1738=)
c.5204A= (p.Asn1735=)
c.5165A= (p.Asn1722=)
c.5111A= (p.Asn1704=)
c.5015A= (p.Asn1672=)
c.4985A= (p.Asn1662=)
c.4910A= (p.Asn1637=)
c.4808A= (p.Asn1603=)
c.4439A= (p.Asn1480=)
5g.112840882A>CCA16032889APCc.5342A>C (p.Asn1781Thr)
c.*5294A>C (n.*5294A>C)
c.5234A>C (p.Asn1745Thr)
c.5288A>C (p.Asn1763Thr)
c.*4610A>C (n.*4610A>C)
c.230+11910A>C
c.5318A>C (p.Asn1773Thr)
c.5213A>C (p.Asn1738Thr)
c.5204A>C (p.Asn1735Thr)
c.5165A>C (p.Asn1722Thr)
c.5111A>C (p.Asn1704Thr)
c.5015A>C (p.Asn1672Thr)
c.4985A>C (p.Asn1662Thr)
c.4910A>C (p.Asn1637Thr)
c.4808A>C (p.Asn1603Thr)
c.4439A>C (p.Asn1480Thr)
5g.112840882A>GCA16032890APCc.5342A>G (p.Asn1781Ser)
c.*5294A>G (n.*5294A>G)
c.5234A>G (p.Asn1745Ser)
c.5288A>G (p.Asn1763Ser)
c.*4610A>G (n.*4610A>G)
c.230+11910A>G
c.5318A>G (p.Asn1773Ser)
c.5213A>G (p.Asn1738Ser)
c.5204A>G (p.Asn1735Ser)
c.5165A>G (p.Asn1722Ser)
c.5111A>G (p.Asn1704Ser)
c.5015A>G (p.Asn1672Ser)
c.4985A>G (p.Asn1662Ser)
c.4910A>G (p.Asn1637Ser)
c.4808A>G (p.Asn1603Ser)
c.4439A>G (p.Asn1480Ser)
ClinVar dbSNP
5g.112840882A>TCA16032891APCc.5342A>T (p.Asn1781Ile)
c.*5294A>T (n.*5294A>T)
c.5234A>T (p.Asn1745Ile)
c.5288A>T (p.Asn1763Ile)
c.*4610A>T (n.*4610A>T)
c.230+11910A>T
c.5318A>T (p.Asn1773Ile)
c.5213A>T (p.Asn1738Ile)
c.5204A>T (p.Asn1735Ile)
c.5165A>T (p.Asn1722Ile)
c.5111A>T (p.Asn1704Ile)
c.5015A>T (p.Asn1672Ile)
c.4985A>T (p.Asn1662Ile)
c.4910A>T (p.Asn1637Ile)
c.4808A>T (p.Asn1603Ile)
c.4439A>T (p.Asn1480Ile)
dbSNP
5g.112840883T>ACA16032892APCc.5343T>A (p.Asn1781Lys)
c.*5295T>A (n.*5295T>A)
c.5235T>A (p.Asn1745Lys)
c.5289T>A (p.Asn1763Lys)
c.*4611T>A (n.*4611T>A)
c.230+11911T>A
c.5319T>A (p.Asn1773Lys)
c.5214T>A (p.Asn1738Lys)
c.5205T>A (p.Asn1735Lys)
c.5166T>A (p.Asn1722Lys)
c.5112T>A (p.Asn1704Lys)
c.5016T>A (p.Asn1672Lys)
c.4986T>A (p.Asn1662Lys)
c.4911T>A (p.Asn1637Lys)
c.4809T>A (p.Asn1603Lys)
c.4440T>A (p.Asn1480Lys)
dbSNP
5g.112840883T>CCA446208775APCc.5343T>C (p.Asn1781=)
c.*5295T>C (n.*5295T>C)
c.5235T>C (p.Asn1745=)
c.5289T>C (p.Asn1763=)
c.*4611T>C (n.*4611T>C)
c.230+11911T>C
c.5319T>C (p.Asn1773=)
c.5214T>C (p.Asn1738=)
c.5205T>C (p.Asn1735=)
c.5166T>C (p.Asn1722=)
c.5112T>C (p.Asn1704=)
c.5016T>C (p.Asn1672=)
c.4986T>C (p.Asn1662=)
c.4911T>C (p.Asn1637=)
c.4809T>C (p.Asn1603=)
c.4440T>C (p.Asn1480=)
dbSNP
5g.112840883T>GCA16032893APCc.5343T>G (p.Asn1781Lys)
c.*5295T>G (n.*5295T>G)
c.5235T>G (p.Asn1745Lys)
c.5289T>G (p.Asn1763Lys)
c.*4611T>G (n.*4611T>G)
c.230+11911T>G
c.5319T>G (p.Asn1773Lys)
c.5214T>G (p.Asn1738Lys)
c.5205T>G (p.Asn1735Lys)
c.5166T>G (p.Asn1722Lys)
c.5112T>G (p.Asn1704Lys)
c.5016T>G (p.Asn1672Lys)
c.4986T>G (p.Asn1662Lys)
c.4911T>G (p.Asn1637Lys)
c.4809T>G (p.Asn1603Lys)
c.4440T>G (p.Asn1480Lys)
dbSNP
5g.112840884C>ACA16032894APCc.5344C>A (p.Gln1782Lys)
c.*5296C>A (n.*5296C>A)
c.5236C>A (p.Gln1746Lys)
c.5290C>A (p.Gln1764Lys)
c.*4612C>A (n.*4612C>A)
c.230+11912C>A
c.5320C>A (p.Gln1774Lys)
c.5215C>A (p.Gln1739Lys)
c.5206C>A (p.Gln1736Lys)
c.5167C>A (p.Gln1723Lys)
c.5113C>A (p.Gln1705Lys)
c.5017C>A (p.Gln1673Lys)
c.4987C>A (p.Gln1663Lys)
c.4912C>A (p.Gln1638Lys)
c.4810C>A (p.Gln1604Lys)
c.4441C>A (p.Gln1481Lys)
dbSNP gnomAD v4
5g.112840884C=CA1573475327APCc.5344C= (p.Gln1782=)
c.*5296C= (n.*5296C=)
c.5236C= (p.Gln1746=)
c.5290C= (p.Gln1764=)
c.*4612C= (n.*4612C=)
c.230+11912C=
c.5320C= (p.Gln1774=)
c.5215C= (p.Gln1739=)
c.5206C= (p.Gln1736=)
c.5167C= (p.Gln1723=)
c.5113C= (p.Gln1705=)
c.5017C= (p.Gln1673=)
c.4987C= (p.Gln1663=)
c.4912C= (p.Gln1638=)
c.4810C= (p.Gln1604=)
c.4441C= (p.Gln1481=)
5g.112840884C>GCA010025APCc.5344C>G (p.Gln1782Glu)
c.*5296C>G (n.*5296C>G)
c.5236C>G (p.Gln1746Glu)
c.5290C>G (p.Gln1764Glu)
c.*4612C>G (n.*4612C>G)
c.230+11912C>G
c.5320C>G (p.Gln1774Glu)
c.5215C>G (p.Gln1739Glu)
c.5206C>G (p.Gln1736Glu)
c.5167C>G (p.Gln1723Glu)
c.5113C>G (p.Gln1705Glu)
c.5017C>G (p.Gln1673Glu)
c.4987C>G (p.Gln1663Glu)
c.4912C>G (p.Gln1638Glu)
c.4810C>G (p.Gln1604Glu)
c.4441C>G (p.Gln1481Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840884C>TCA16032895APCc.5344C>T (p.Gln1782Ter)
c.*5296C>T (n.*5296C>T)
c.5236C>T (p.Gln1746Ter)
c.5290C>T (p.Gln1764Ter)
c.*4612C>T (n.*4612C>T)
c.230+11912C>T
c.5320C>T (p.Gln1774Ter)
c.5215C>T (p.Gln1739Ter)
c.5206C>T (p.Gln1736Ter)
c.5167C>T (p.Gln1723Ter)
c.5113C>T (p.Gln1705Ter)
c.5017C>T (p.Gln1673Ter)
c.4987C>T (p.Gln1663Ter)
c.4912C>T (p.Gln1638Ter)
c.4810C>T (p.Gln1604Ter)
c.4441C>T (p.Gln1481Ter)
dbSNP
5g.112840884_112840888delinsCAGTTCA1573475346APCc.5344_5348delinsCAGTT (p.Gln1782=)
c.*5296_*5300delinsCAGTT (n.*5296_*5300delinsCAGTT)
c.5236_5240delinsCAGTT (p.Gln1746=)
c.5290_5294delinsCAGTT (p.Gln1764=)
c.*4612_*4616delinsCAGTT (n.*4612_*4616delinsCAGTT)
c.230+11912_230+11916delinsCAGTT
c.5320_5324delinsCAGTT (p.Gln1774=)
c.5215_5219delinsCAGTT (p.Gln1739=)
c.5206_5210delinsCAGTT (p.Gln1736=)
c.5167_5171delinsCAGTT (p.Gln1723=)
c.5113_5117delinsCAGTT (p.Gln1705=)
c.5017_5021delinsCAGTT (p.Gln1673=)
c.4987_4991delinsCAGTT (p.Gln1663=)
c.4912_4916delinsCAGTT (p.Gln1638=)
c.4810_4814delinsCAGTT (p.Gln1604=)
c.4441_4445delinsCAGTT (p.Gln1481=)
5g.112840885A>CCA16032896APCc.5345A>C (p.Gln1782Pro)
c.*5297A>C (n.*5297A>C)
c.5237A>C (p.Gln1746Pro)
c.5291A>C (p.Gln1764Pro)
c.*4613A>C (n.*4613A>C)
c.230+11913A>C
c.5321A>C (p.Gln1774Pro)
c.5216A>C (p.Gln1739Pro)
c.5207A>C (p.Gln1736Pro)
c.5168A>C (p.Gln1723Pro)
c.5114A>C (p.Gln1705Pro)
c.5018A>C (p.Gln1673Pro)
c.4988A>C (p.Gln1663Pro)
c.4913A>C (p.Gln1638Pro)
c.4811A>C (p.Gln1604Pro)
c.4442A>C (p.Gln1481Pro)
5g.112840885A>GCA16032897APCc.5345A>G (p.Gln1782Arg)
c.*5297A>G (n.*5297A>G)
c.5237A>G (p.Gln1746Arg)
c.5291A>G (p.Gln1764Arg)
c.*4613A>G (n.*4613A>G)
c.230+11913A>G
c.5321A>G (p.Gln1774Arg)
c.5216A>G (p.Gln1739Arg)
c.5207A>G (p.Gln1736Arg)
c.5168A>G (p.Gln1723Arg)
c.5114A>G (p.Gln1705Arg)
c.5018A>G (p.Gln1673Arg)
c.4988A>G (p.Gln1663Arg)
c.4913A>G (p.Gln1638Arg)
c.4811A>G (p.Gln1604Arg)
c.4442A>G (p.Gln1481Arg)
ClinVar dbSNP
5g.112840885A>TCA16032898APCc.5345A>T (p.Gln1782Leu)
c.*5297A>T (n.*5297A>T)
c.5237A>T (p.Gln1746Leu)
c.5291A>T (p.Gln1764Leu)
c.*4613A>T (n.*4613A>T)
c.230+11913A>T
c.5321A>T (p.Gln1774Leu)
c.5216A>T (p.Gln1739Leu)
c.5207A>T (p.Gln1736Leu)
c.5168A>T (p.Gln1723Leu)
c.5114A>T (p.Gln1705Leu)
c.5018A>T (p.Gln1673Leu)
c.4988A>T (p.Gln1663Leu)
c.4913A>T (p.Gln1638Leu)
c.4811A>T (p.Gln1604Leu)
c.4442A>T (p.Gln1481Leu)
dbSNP
5g.112840887_112840890delCA891843025APCc.5347_5350del (p.Leu1783MetfsTer11)
c.*5299_*5302del (n.*5299_*5302del)
c.5239_5242del (p.Leu1747MetfsTer11)
c.5293_5296del (p.Leu1765MetfsTer11)
c.*4615_*4618del (n.*4615_*4618del)
c.230+11915_230+11918del
c.5323_5326del (p.Leu1775MetfsTer11)
c.5218_5221del (p.Leu1740MetfsTer11)
c.5209_5212del (p.Leu1737MetfsTer11)
c.5170_5173del (p.Leu1724MetfsTer11)
c.5116_5119del (p.Leu1706MetfsTer11)
c.5020_5023del (p.Leu1674MetfsTer11)
c.4990_4993del (p.Leu1664MetfsTer11)
c.4915_4918del (p.Leu1639MetfsTer11)
c.4813_4816del (p.Leu1605MetfsTer11)
c.4444_4447del (p.Leu1482MetfsTer11)
ClinVar dbSNP
5g.112840886G>ACA446208776APCc.5346G>A (p.Gln1782=)
c.*5298G>A (n.*5298G>A)
c.5238G>A (p.Gln1746=)
c.5292G>A (p.Gln1764=)
c.*4614G>A (n.*4614G>A)
c.230+11914G>A
c.5322G>A (p.Gln1774=)
c.5217G>A (p.Gln1739=)
c.5208G>A (p.Gln1736=)
c.5169G>A (p.Gln1723=)
c.5115G>A (p.Gln1705=)
c.5019G>A (p.Gln1673=)
c.4989G>A (p.Gln1663=)
c.4914G>A (p.Gln1638=)
c.4812G>A (p.Gln1604=)
c.4443G>A (p.Gln1481=)
dbSNP
5g.112840886G>CCA10578401APCc.5346G>C (p.Gln1782His)
c.*5298G>C (n.*5298G>C)
c.5238G>C (p.Gln1746His)
c.5292G>C (p.Gln1764His)
c.*4614G>C (n.*4614G>C)
c.230+11914G>C
c.5322G>C (p.Gln1774His)
c.5217G>C (p.Gln1739His)
c.5208G>C (p.Gln1736His)
c.5169G>C (p.Gln1723His)
c.5115G>C (p.Gln1705His)
c.5019G>C (p.Gln1673His)
c.4989G>C (p.Gln1663His)
c.4914G>C (p.Gln1638His)
c.4812G>C (p.Gln1604His)
c.4443G>C (p.Gln1481His)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112840886G=CA1573475367APCc.5346G= (p.Gln1782=)
c.*5298G= (n.*5298G=)
c.5238G= (p.Gln1746=)
c.5292G= (p.Gln1764=)
c.*4614G= (n.*4614G=)
c.230+11914G=
c.5322G= (p.Gln1774=)
c.5217G= (p.Gln1739=)
c.5208G= (p.Gln1736=)
c.5169G= (p.Gln1723=)
c.5115G= (p.Gln1705=)
c.5019G= (p.Gln1673=)
c.4989G= (p.Gln1663=)
c.4914G= (p.Gln1638=)
c.4812G= (p.Gln1604=)
c.4443G= (p.Gln1481=)
5g.112840886G>TCA16032899APCc.5346G>T (p.Gln1782His)
c.*5298G>T (n.*5298G>T)
c.5238G>T (p.Gln1746His)
c.5292G>T (p.Gln1764His)
c.*4614G>T (n.*4614G>T)
c.230+11914G>T
c.5322G>T (p.Gln1774His)
c.5217G>T (p.Gln1739His)
c.5208G>T (p.Gln1736His)
c.5169G>T (p.Gln1723His)
c.5115G>T (p.Gln1705His)
c.5019G>T (p.Gln1673His)
c.4989G>T (p.Gln1663His)
c.4914G>T (p.Gln1638His)
c.4812G>T (p.Gln1604His)
c.4443G>T (p.Gln1481His)
dbSNP gnomAD v2
5g.112840887T>ACA16032900APCc.5347T>A (p.Leu1783Ile)
c.*5299T>A (n.*5299T>A)
c.5239T>A (p.Leu1747Ile)
c.5293T>A (p.Leu1765Ile)
c.*4615T>A (n.*4615T>A)
c.230+11915T>A
c.5323T>A (p.Leu1775Ile)
c.5218T>A (p.Leu1740Ile)
c.5209T>A (p.Leu1737Ile)
c.5170T>A (p.Leu1724Ile)
c.5116T>A (p.Leu1706Ile)
c.5020T>A (p.Leu1674Ile)
c.4990T>A (p.Leu1664Ile)
c.4915T>A (p.Leu1639Ile)
c.4813T>A (p.Leu1605Ile)
c.4444T>A (p.Leu1482Ile)
dbSNP
5g.112840887T>CCA446208777APCc.5347T>C (p.Leu1783=)
c.*5299T>C (n.*5299T>C)
c.5239T>C (p.Leu1747=)
c.5293T>C (p.Leu1765=)
c.*4615T>C (n.*4615T>C)
c.230+11915T>C
c.5323T>C (p.Leu1775=)
c.5218T>C (p.Leu1740=)
c.5209T>C (p.Leu1737=)
c.5170T>C (p.Leu1724=)
c.5116T>C (p.Leu1706=)
c.5020T>C (p.Leu1674=)
c.4990T>C (p.Leu1664=)
c.4915T>C (p.Leu1639=)
c.4813T>C (p.Leu1605=)
c.4444T>C (p.Leu1482=)
ClinVar
5g.112840887T>GCA16032901APCc.5347T>G (p.Leu1783Val)
c.*5299T>G (n.*5299T>G)
c.5239T>G (p.Leu1747Val)
c.5293T>G (p.Leu1765Val)
c.*4615T>G (n.*4615T>G)
c.230+11915T>G
c.5323T>G (p.Leu1775Val)
c.5218T>G (p.Leu1740Val)
c.5209T>G (p.Leu1737Val)
c.5170T>G (p.Leu1724Val)
c.5116T>G (p.Leu1706Val)
c.5020T>G (p.Leu1674Val)
c.4990T>G (p.Leu1664Val)
c.4915T>G (p.Leu1639Val)
c.4813T>G (p.Leu1605Val)
c.4444T>G (p.Leu1482Val)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112840887T=CA1573475373APCc.5347T= (p.Leu1783=)
c.*5299T= (n.*5299T=)
c.5239T= (p.Leu1747=)
c.5293T= (p.Leu1765=)
c.*4615T= (n.*4615T=)
c.230+11915T=
c.5323T= (p.Leu1775=)
c.5218T= (p.Leu1740=)
c.5209T= (p.Leu1737=)
c.5170T= (p.Leu1724=)
c.5116T= (p.Leu1706=)
c.5020T= (p.Leu1674=)
c.4990T= (p.Leu1664=)
c.4915T= (p.Leu1639=)
c.4813T= (p.Leu1605=)
c.4444T= (p.Leu1482=)
5g.112840888T>ACA16032902APCc.5348T>A (p.Leu1783Ter)
c.*5300T>A (n.*5300T>A)
c.5240T>A (p.Leu1747Ter)
c.5294T>A (p.Leu1765Ter)
c.*4616T>A (n.*4616T>A)
c.230+11916T>A
c.5324T>A (p.Leu1775Ter)
c.5219T>A (p.Leu1740Ter)
c.5210T>A (p.Leu1737Ter)
c.5171T>A (p.Leu1724Ter)
c.5117T>A (p.Leu1706Ter)
c.5021T>A (p.Leu1674Ter)
c.4991T>A (p.Leu1664Ter)
c.4916T>A (p.Leu1639Ter)
c.4814T>A (p.Leu1605Ter)
c.4445T>A (p.Leu1482Ter)
dbSNP
5g.112840888T>CCA16032903APCc.5348T>C (p.Leu1783Ser)
c.*5300T>C (n.*5300T>C)
c.5240T>C (p.Leu1747Ser)
c.5294T>C (p.Leu1765Ser)
c.*4616T>C (n.*4616T>C)
c.230+11916T>C
c.5324T>C (p.Leu1775Ser)
c.5219T>C (p.Leu1740Ser)
c.5210T>C (p.Leu1737Ser)
c.5171T>C (p.Leu1724Ser)
c.5117T>C (p.Leu1706Ser)
c.5021T>C (p.Leu1674Ser)
c.4991T>C (p.Leu1664Ser)
c.4916T>C (p.Leu1639Ser)
c.4814T>C (p.Leu1605Ser)
c.4445T>C (p.Leu1482Ser)
ClinVar dbSNP
5g.112840888T>GCA16032904APCc.5348T>G (p.Leu1783Ter)
c.*5300T>G (n.*5300T>G)
c.5240T>G (p.Leu1747Ter)
c.5294T>G (p.Leu1765Ter)
c.*4616T>G (n.*4616T>G)
c.230+11916T>G
c.5324T>G (p.Leu1775Ter)
c.5219T>G (p.Leu1740Ter)
c.5210T>G (p.Leu1737Ter)
c.5171T>G (p.Leu1724Ter)
c.5117T>G (p.Leu1706Ter)
c.5021T>G (p.Leu1674Ter)
c.4991T>G (p.Leu1664Ter)
c.4916T>G (p.Leu1639Ter)
c.4814T>G (p.Leu1605Ter)
c.4445T>G (p.Leu1482Ter)
5g.112840888T=CA1573475381APCc.5348T= (p.Leu1783=)
c.*5300T= (n.*5300T=)
c.5240T= (p.Leu1747=)
c.5294T= (p.Leu1765=)
c.*4616T= (n.*4616T=)
c.230+11916T=
c.5324T= (p.Leu1775=)
c.5219T= (p.Leu1740=)
c.5210T= (p.Leu1737=)
c.5171T= (p.Leu1724=)
c.5117T= (p.Leu1706=)
c.5021T= (p.Leu1674=)
c.4991T= (p.Leu1664=)
c.4916T= (p.Leu1639=)
c.4814T= (p.Leu1605=)
c.4445T= (p.Leu1482=)
5g.112840889A=CA1573475396APCc.5349A= (p.Leu1783=)
c.*5301A= (n.*5301A=)
c.5241A= (p.Leu1747=)
c.5295A= (p.Leu1765=)
c.*4617A= (n.*4617A=)
c.230+11917A=
c.5325A= (p.Leu1775=)
c.5220A= (p.Leu1740=)
c.5211A= (p.Leu1737=)
c.5172A= (p.Leu1724=)
c.5118A= (p.Leu1706=)
c.5022A= (p.Leu1674=)
c.4992A= (p.Leu1664=)
c.4917A= (p.Leu1639=)
c.4815A= (p.Leu1605=)
c.4446A= (p.Leu1482=)
5g.112840889A>CCA16032905APCc.5349A>C (p.Leu1783Phe)
c.*5301A>C (n.*5301A>C)
c.5241A>C (p.Leu1747Phe)
c.5295A>C (p.Leu1765Phe)
c.*4617A>C (n.*4617A>C)
c.230+11917A>C
c.5325A>C (p.Leu1775Phe)
c.5220A>C (p.Leu1740Phe)
c.5211A>C (p.Leu1737Phe)
c.5172A>C (p.Leu1724Phe)
c.5118A>C (p.Leu1706Phe)
c.5022A>C (p.Leu1674Phe)
c.4992A>C (p.Leu1664Phe)
c.4917A>C (p.Leu1639Phe)
c.4815A>C (p.Leu1605Phe)
c.4446A>C (p.Leu1482Phe)
ClinVar dbSNP gnomAD v4
5g.112840889A>GCA446208778APCc.5349A>G (p.Leu1783=)
c.*5301A>G (n.*5301A>G)
c.5241A>G (p.Leu1747=)
c.5295A>G (p.Leu1765=)
c.*4617A>G (n.*4617A>G)
c.230+11917A>G
c.5325A>G (p.Leu1775=)
c.5220A>G (p.Leu1740=)
c.5211A>G (p.Leu1737=)
c.5172A>G (p.Leu1724=)
c.5118A>G (p.Leu1706=)
c.5022A>G (p.Leu1674=)
c.4992A>G (p.Leu1664=)
c.4917A>G (p.Leu1639=)
c.4815A>G (p.Leu1605=)
c.4446A>G (p.Leu1482=)
dbSNP
5g.112840889A>TCA16032906APCc.5349A>T (p.Leu1783Phe)
c.*5301A>T (n.*5301A>T)
c.5241A>T (p.Leu1747Phe)
c.5295A>T (p.Leu1765Phe)
c.*4617A>T (n.*4617A>T)
c.230+11917A>T
c.5325A>T (p.Leu1775Phe)
c.5220A>T (p.Leu1740Phe)
c.5211A>T (p.Leu1737Phe)
c.5172A>T (p.Leu1724Phe)
c.5118A>T (p.Leu1706Phe)
c.5022A>T (p.Leu1674Phe)
c.4992A>T (p.Leu1664Phe)
c.4917A>T (p.Leu1639Phe)
c.4815A>T (p.Leu1605Phe)
c.4446A>T (p.Leu1482Phe)
dbSNP
5g.112840890G>ACA16032907APCc.5350G>A (p.Asp1784Asn)
c.*5302G>A (n.*5302G>A)
c.5242G>A (p.Asp1748Asn)
c.5296G>A (p.Asp1766Asn)
c.*4618G>A (n.*4618G>A)
c.230+11918G>A
c.5326G>A (p.Asp1776Asn)
c.5221G>A (p.Asp1741Asn)
c.5212G>A (p.Asp1738Asn)
c.5173G>A (p.Asp1725Asn)
c.5119G>A (p.Asp1707Asn)
c.5023G>A (p.Asp1675Asn)
c.4993G>A (p.Asp1665Asn)
c.4918G>A (p.Asp1640Asn)
c.4816G>A (p.Asp1606Asn)
c.4447G>A (p.Asp1483Asn)
dbSNP
5g.112840890G>CCA16032908APCc.5350G>C (p.Asp1784His)
c.*5302G>C (n.*5302G>C)
c.5242G>C (p.Asp1748His)
c.5296G>C (p.Asp1766His)
c.*4618G>C (n.*4618G>C)
c.230+11918G>C
c.5326G>C (p.Asp1776His)
c.5221G>C (p.Asp1741His)
c.5212G>C (p.Asp1738His)
c.5173G>C (p.Asp1725His)
c.5119G>C (p.Asp1707His)
c.5023G>C (p.Asp1675His)
c.4993G>C (p.Asp1665His)
c.4918G>C (p.Asp1640His)
c.4816G>C (p.Asp1606His)
c.4447G>C (p.Asp1483His)
ClinVar dbSNP gnomAD v4
5g.112840890G=CA1573475399APCc.5350G= (p.Asp1784=)
c.*5302G= (n.*5302G=)
c.5242G= (p.Asp1748=)
c.5296G= (p.Asp1766=)
c.*4618G= (n.*4618G=)
c.230+11918G=
c.5326G= (p.Asp1776=)
c.5221G= (p.Asp1741=)
c.5212G= (p.Asp1738=)
c.5173G= (p.Asp1725=)
c.5119G= (p.Asp1707=)
c.5023G= (p.Asp1675=)
c.4993G= (p.Asp1665=)
c.4918G= (p.Asp1640=)
c.4816G= (p.Asp1606=)
c.4447G= (p.Asp1483=)
5g.112840890G>TCA16032909APCc.5350G>T (p.Asp1784Tyr)
c.*5302G>T (n.*5302G>T)
c.5242G>T (p.Asp1748Tyr)
c.5296G>T (p.Asp1766Tyr)
c.*4618G>T (n.*4618G>T)
c.230+11918G>T
c.5326G>T (p.Asp1776Tyr)
c.5221G>T (p.Asp1741Tyr)
c.5212G>T (p.Asp1738Tyr)
c.5173G>T (p.Asp1725Tyr)
c.5119G>T (p.Asp1707Tyr)
c.5023G>T (p.Asp1675Tyr)
c.4993G>T (p.Asp1665Tyr)
c.4918G>T (p.Asp1640Tyr)
c.4816G>T (p.Asp1606Tyr)
c.4447G>T (p.Asp1483Tyr)
dbSNP
5g.112840891A=CA1573475403APCc.5351A= (p.Asp1784=)
c.*5303A= (n.*5303A=)
c.5243A= (p.Asp1748=)
c.5297A= (p.Asp1766=)
c.*4619A= (n.*4619A=)
c.230+11919A=
c.5327A= (p.Asp1776=)
c.5222A= (p.Asp1741=)
c.5213A= (p.Asp1738=)
c.5174A= (p.Asp1725=)
c.5120A= (p.Asp1707=)
c.5024A= (p.Asp1675=)
c.4994A= (p.Asp1665=)
c.4919A= (p.Asp1640=)
c.4817A= (p.Asp1606=)
c.4448A= (p.Asp1483=)

Number of alleles fetched