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.112840073_112840862delCA2499217486APCc.4533_5322del (p.Glu1512LeufsTer9)
c.*4485_*5274del (n.*4485_*5274del)
c.4425_5214del (p.Glu1476LeufsTer9)
c.4479_5268del (p.Glu1494LeufsTer9)
c.*3801_*4590del (n.*3801_*4590del)
c.230+11101_230+11890del
c.4509_5298del (p.Glu1504LeufsTer9)
c.4404_5193del (p.Glu1469LeufsTer9)
c.4395_5184del (p.Glu1466LeufsTer9)
c.4356_5145del (p.Glu1453LeufsTer9)
c.4302_5091del (p.Glu1435LeufsTer9)
c.4206_4995del (p.Glu1403LeufsTer9)
c.4176_4965del (p.Glu1393LeufsTer9)
c.4101_4890del (p.Glu1368LeufsTer9)
c.3999_4788del (p.Glu1334LeufsTer9)
c.3630_4419del (p.Glu1211LeufsTer9)
 ClinVar dbSNP
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.112840819_112840833delinsGTGTGAAAAAGATAACA1573474855APCc.5279_5293delinsGTGTGAAAAAGATAA (p.Arg1760=)
c.*5231_*5245delinsGTGTGAAAAAGATAA (n.*5231_*5245delinsGTGTGAAAAAGATAA)
c.5171_5185delinsGTGTGAAAAAGATAA (p.Arg1724=)
c.5225_5239delinsGTGTGAAAAAGATAA (p.Arg1742=)
c.*4547_*4561delinsGTGTGAAAAAGATAA (n.*4547_*4561delinsGTGTGAAAAAGATAA)
c.230+11847_230+11861delinsGTGTGAAAAAGATAA
c.5255_5269delinsGTGTGAAAAAGATAA (p.Arg1752=)
c.5150_5164delinsGTGTGAAAAAGATAA (p.Arg1717=)
c.5141_5155delinsGTGTGAAAAAGATAA (p.Arg1714=)
c.5102_5116delinsGTGTGAAAAAGATAA (p.Arg1701=)
c.5048_5062delinsGTGTGAAAAAGATAA (p.Arg1683=)
c.4952_4966delinsGTGTGAAAAAGATAA (p.Arg1651=)
c.4922_4936delinsGTGTGAAAAAGATAA (p.Arg1641=)
c.4847_4861delinsGTGTGAAAAAGATAA (p.Arg1616=)
c.4745_4759delinsGTGTGAAAAAGATAA (p.Arg1582=)
c.4376_4390delinsGTGTGAAAAAGATAA (p.Arg1459=)
5g.112840822_112840835delCA915943499APCc.5282_5295del (p.Val1761GlyfsTer21)
c.*5234_*5247del (n.*5234_*5247del)
c.5174_5187del (p.Val1725GlyfsTer21)
c.5228_5241del (p.Val1743GlyfsTer21)
c.*4550_*4563del (n.*4550_*4563del)
c.230+11850_230+11863del
c.5258_5271del (p.Val1753GlyfsTer21)
c.5153_5166del (p.Val1718GlyfsTer21)
c.5144_5157del (p.Val1715GlyfsTer21)
c.5105_5118del (p.Val1702GlyfsTer21)
c.5051_5064del (p.Val1684GlyfsTer21)
c.4955_4968del (p.Val1652GlyfsTer21)
c.4925_4938del (p.Val1642GlyfsTer21)
c.4850_4863del (p.Val1617GlyfsTer21)
c.4748_4761del (p.Val1583GlyfsTer21)
c.4379_4392del (p.Val1460GlyfsTer21)
 ClinVar dbSNP
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.112840829_112840832delinsGATACA1573474926APCc.5289_5292delinsGATA (p.Lys1763=)
c.*5241_*5244delinsGATA (n.*5241_*5244delinsGATA)
c.5181_5184delinsGATA (p.Lys1727=)
c.5235_5238delinsGATA (p.Lys1745=)
c.*4557_*4560delinsGATA (n.*4557_*4560delinsGATA)
c.230+11857_230+11860delinsGATA
c.5265_5268delinsGATA (p.Lys1755=)
c.5160_5163delinsGATA (p.Lys1720=)
c.5151_5154delinsGATA (p.Lys1717=)
c.5112_5115delinsGATA (p.Lys1704=)
c.5058_5061delinsGATA (p.Lys1686=)
c.4962_4965delinsGATA (p.Lys1654=)
c.4932_4935delinsGATA (p.Lys1644=)
c.4857_4860delinsGATA (p.Lys1619=)
c.4755_4758delinsGATA (p.Lys1585=)
c.4386_4389delinsGATA (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.112840830A=CA1573474932APCc.5290A= (p.Ile1764=)
c.*5242A= (n.*5242A=)
c.5182A= (p.Ile1728=)
c.5236A= (p.Ile1746=)
c.*4558A= (n.*4558A=)
c.230+11858A=
c.5266A= (p.Ile1756=)
c.5161A= (p.Ile1721=)
c.5152A= (p.Ile1718=)
c.5113A= (p.Ile1705=)
c.5059A= (p.Ile1687=)
c.4963A= (p.Ile1655=)
c.4933A= (p.Ile1645=)
c.4858A= (p.Ile1620=)
c.4756A= (p.Ile1586=)
c.4387A= (p.Ile1463=)
5g.112840830A>CCA16032777APCc.5290A>C (p.Ile1764Leu)
c.*5242A>C (n.*5242A>C)
c.5182A>C (p.Ile1728Leu)
c.5236A>C (p.Ile1746Leu)
c.*4558A>C (n.*4558A>C)
c.230+11858A>C
c.5266A>C (p.Ile1756Leu)
c.5161A>C (p.Ile1721Leu)
c.5152A>C (p.Ile1718Leu)
c.5113A>C (p.Ile1705Leu)
c.5059A>C (p.Ile1687Leu)
c.4963A>C (p.Ile1655Leu)
c.4933A>C (p.Ile1645Leu)
c.4858A>C (p.Ile1620Leu)
c.4756A>C (p.Ile1586Leu)
c.4387A>C (p.Ile1463Leu)
5g.112840830A>GCA009948APCc.5290A>G (p.Ile1764Val)
c.*5242A>G (n.*5242A>G)
c.5182A>G (p.Ile1728Val)
c.5236A>G (p.Ile1746Val)
c.*4558A>G (n.*4558A>G)
c.230+11858A>G
c.5266A>G (p.Ile1756Val)
c.5161A>G (p.Ile1721Val)
c.5152A>G (p.Ile1718Val)
c.5113A>G (p.Ile1705Val)
c.5059A>G (p.Ile1687Val)
c.4963A>G (p.Ile1655Val)
c.4933A>G (p.Ile1645Val)
c.4858A>G (p.Ile1620Val)
c.4756A>G (p.Ile1586Val)
c.4387A>G (p.Ile1463Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112840830A>TCA16032778APCc.5290A>T (p.Ile1764Leu)
c.*5242A>T (n.*5242A>T)
c.5182A>T (p.Ile1728Leu)
c.5236A>T (p.Ile1746Leu)
c.*4558A>T (n.*4558A>T)
c.230+11858A>T
c.5266A>T (p.Ile1756Leu)
c.5161A>T (p.Ile1721Leu)
c.5152A>T (p.Ile1718Leu)
c.5113A>T (p.Ile1705Leu)
c.5059A>T (p.Ile1687Leu)
c.4963A>T (p.Ile1655Leu)
c.4933A>T (p.Ile1645Leu)
c.4858A>T (p.Ile1620Leu)
c.4756A>T (p.Ile1586Leu)
c.4387A>T (p.Ile1463Leu)
5g.112840832_112840834delCA891843024APCc.5292_5294del (p.Ile1764del)
c.*5244_*5246del (n.*5244_*5246del)
c.5184_5186del (p.Ile1728del)
c.5238_5240del (p.Ile1746del)
c.*4560_*4562del (n.*4560_*4562del)
c.230+11860_230+11862del
c.5268_5270del (p.Ile1756del)
c.5163_5165del (p.Ile1721del)
c.5154_5156del (p.Ile1718del)
c.5115_5117del (p.Ile1705del)
c.5061_5063del (p.Ile1687del)
c.4965_4967del (p.Ile1655del)
c.4935_4937del (p.Ile1645del)
c.4860_4862del (p.Ile1620del)
c.4758_4760del (p.Ile1586del)
c.4389_4391del (p.Ile1463del)
 ClinVar dbSNP gnomAD v4
5g.112840831T>ACA16032779APCc.5291T>A (p.Ile1764Lys)
c.*5243T>A (n.*5243T>A)
c.5183T>A (p.Ile1728Lys)
c.5237T>A (p.Ile1746Lys)
c.*4559T>A (n.*4559T>A)
c.230+11859T>A
c.5267T>A (p.Ile1756Lys)
c.5162T>A (p.Ile1721Lys)
c.5153T>A (p.Ile1718Lys)
c.5114T>A (p.Ile1705Lys)
c.5060T>A (p.Ile1687Lys)
c.4964T>A (p.Ile1655Lys)
c.4934T>A (p.Ile1645Lys)
c.4859T>A (p.Ile1620Lys)
c.4757T>A (p.Ile1586Lys)
c.4388T>A (p.Ile1463Lys)
5g.112840831T>CCA16032780APCc.5291T>C (p.Ile1764Thr)
c.*5243T>C (n.*5243T>C)
c.5183T>C (p.Ile1728Thr)
c.5237T>C (p.Ile1746Thr)
c.*4559T>C (n.*4559T>C)
c.230+11859T>C
c.5267T>C (p.Ile1756Thr)
c.5162T>C (p.Ile1721Thr)
c.5153T>C (p.Ile1718Thr)
c.5114T>C (p.Ile1705Thr)
c.5060T>C (p.Ile1687Thr)
c.4964T>C (p.Ile1655Thr)
c.4934T>C (p.Ile1645Thr)
c.4859T>C (p.Ile1620Thr)
c.4757T>C (p.Ile1586Thr)
c.4388T>C (p.Ile1463Thr)
 ClinVar dbSNP
5g.112840831T>GCA16032781APCc.5291T>G (p.Ile1764Arg)
c.*5243T>G (n.*5243T>G)
c.5183T>G (p.Ile1728Arg)
c.5237T>G (p.Ile1746Arg)
c.*4559T>G (n.*4559T>G)
c.230+11859T>G
c.5267T>G (p.Ile1756Arg)
c.5162T>G (p.Ile1721Arg)
c.5153T>G (p.Ile1718Arg)
c.5114T>G (p.Ile1705Arg)
c.5060T>G (p.Ile1687Arg)
c.4964T>G (p.Ile1655Arg)
c.4934T>G (p.Ile1645Arg)
c.4859T>G (p.Ile1620Arg)
c.4757T>G (p.Ile1586Arg)
c.4388T>G (p.Ile1463Arg)
5g.112840831T=CA1573474938APCc.5291T= (p.Ile1764=)
c.*5243T= (n.*5243T=)
c.5183T= (p.Ile1728=)
c.5237T= (p.Ile1746=)
c.*4559T= (n.*4559T=)
c.230+11859T=
c.5267T= (p.Ile1756=)
c.5162T= (p.Ile1721=)
c.5153T= (p.Ile1718=)
c.5114T= (p.Ile1705=)
c.5060T= (p.Ile1687=)
c.4964T= (p.Ile1655=)
c.4934T= (p.Ile1645=)
c.4859T= (p.Ile1620=)
c.4757T= (p.Ile1586=)
c.4388T= (p.Ile1463=)
5g.112840832A>CCA446209658APCc.5292A>C (p.Ile1764=)
c.*5244A>C (n.*5244A>C)
c.5184A>C (p.Ile1728=)
c.5238A>C (p.Ile1746=)
c.*4560A>C (n.*4560A>C)
c.230+11860A>C
c.5268A>C (p.Ile1756=)
c.5163A>C (p.Ile1721=)
c.5154A>C (p.Ile1718=)
c.5115A>C (p.Ile1705=)
c.5061A>C (p.Ile1687=)
c.4965A>C (p.Ile1655=)
c.4935A>C (p.Ile1645=)
c.4860A>C (p.Ile1620=)
c.4758A>C (p.Ile1586=)
c.4389A>C (p.Ile1463=)
5g.112840832A>GCA16032782APCc.5292A>G (p.Ile1764Met)
c.*5244A>G (n.*5244A>G)
c.5184A>G (p.Ile1728Met)
c.5238A>G (p.Ile1746Met)
c.*4560A>G (n.*4560A>G)
c.230+11860A>G
c.5268A>G (p.Ile1756Met)
c.5163A>G (p.Ile1721Met)
c.5154A>G (p.Ile1718Met)
c.5115A>G (p.Ile1705Met)
c.5061A>G (p.Ile1687Met)
c.4965A>G (p.Ile1655Met)
c.4935A>G (p.Ile1645Met)
c.4860A>G (p.Ile1620Met)
c.4758A>G (p.Ile1586Met)
c.4389A>G (p.Ile1463Met)
 dbSNP
5g.112840832A>TCA446209659APCc.5292A>T (p.Ile1764=)
c.*5244A>T (n.*5244A>T)
c.5184A>T (p.Ile1728=)
c.5238A>T (p.Ile1746=)
c.*4560A>T (n.*4560A>T)
c.230+11860A>T
c.5268A>T (p.Ile1756=)
c.5163A>T (p.Ile1721=)
c.5154A>T (p.Ile1718=)
c.5115A>T (p.Ile1705=)
c.5061A>T (p.Ile1687=)
c.4965A>T (p.Ile1655=)
c.4935A>T (p.Ile1645=)
c.4860A>T (p.Ile1620=)
c.4758A>T (p.Ile1586=)
c.4389A>T (p.Ile1463=)
 dbSNP
5g.112840833A>CCA16032783APCc.5293A>C (p.Met1765Leu)
c.*5245A>C (n.*5245A>C)
c.5185A>C (p.Met1729Leu)
c.5239A>C (p.Met1747Leu)
c.*4561A>C (n.*4561A>C)
c.230+11861A>C
c.5269A>C (p.Met1757Leu)
c.5164A>C (p.Met1722Leu)
c.5155A>C (p.Met1719Leu)
c.5116A>C (p.Met1706Leu)
c.5062A>C (p.Met1688Leu)
c.4966A>C (p.Met1656Leu)
c.4936A>C (p.Met1646Leu)
c.4861A>C (p.Met1621Leu)
c.4759A>C (p.Met1587Leu)
c.4390A>C (p.Met1464Leu)
 ClinVar
5g.112840833A>GCA16032784APCc.5293A>G (p.Met1765Val)
c.*5245A>G (n.*5245A>G)
c.5185A>G (p.Met1729Val)
c.5239A>G (p.Met1747Val)
c.*4561A>G (n.*4561A>G)
c.230+11861A>G
c.5269A>G (p.Met1757Val)
c.5164A>G (p.Met1722Val)
c.5155A>G (p.Met1719Val)
c.5116A>G (p.Met1706Val)
c.5062A>G (p.Met1688Val)
c.4966A>G (p.Met1656Val)
c.4936A>G (p.Met1646Val)
c.4861A>G (p.Met1621Val)
c.4759A>G (p.Met1587Val)
c.4390A>G (p.Met1464Val)
 ClinVar dbSNP
5g.112840833A>TCA16032785APCc.5293A>T (p.Met1765Leu)
c.*5245A>T (n.*5245A>T)
c.5185A>T (p.Met1729Leu)
c.5239A>T (p.Met1747Leu)
c.*4561A>T (n.*4561A>T)
c.230+11861A>T
c.5269A>T (p.Met1757Leu)
c.5164A>T (p.Met1722Leu)
c.5155A>T (p.Met1719Leu)
c.5116A>T (p.Met1706Leu)
c.5062A>T (p.Met1688Leu)
c.4966A>T (p.Met1656Leu)
c.4936A>T (p.Met1646Leu)
c.4861A>T (p.Met1621Leu)
c.4759A>T (p.Met1587Leu)
c.4390A>T (p.Met1464Leu)
5g.112840834T>ACA16032786APCc.5294T>A (p.Met1765Lys)
c.*5246T>A (n.*5246T>A)
c.5186T>A (p.Met1729Lys)
c.5240T>A (p.Met1747Lys)
c.*4562T>A (n.*4562T>A)
c.230+11862T>A
c.5270T>A (p.Met1757Lys)
c.5165T>A (p.Met1722Lys)
c.5156T>A (p.Met1719Lys)
c.5117T>A (p.Met1706Lys)
c.5063T>A (p.Met1688Lys)
c.4967T>A (p.Met1656Lys)
c.4937T>A (p.Met1646Lys)
c.4862T>A (p.Met1621Lys)
c.4760T>A (p.Met1587Lys)
c.4391T>A (p.Met1464Lys)
5g.112840834T>CCA348841APCc.5294T>C (p.Met1765Thr)
c.*5246T>C (n.*5246T>C)
c.5186T>C (p.Met1729Thr)
c.5240T>C (p.Met1747Thr)
c.*4562T>C (n.*4562T>C)
c.230+11862T>C
c.5270T>C (p.Met1757Thr)
c.5165T>C (p.Met1722Thr)
c.5156T>C (p.Met1719Thr)
c.5117T>C (p.Met1706Thr)
c.5063T>C (p.Met1688Thr)
c.4967T>C (p.Met1656Thr)
c.4937T>C (p.Met1646Thr)
c.4862T>C (p.Met1621Thr)
c.4760T>C (p.Met1587Thr)
c.4391T>C (p.Met1464Thr)
 ClinVar dbSNP gnomAD v4
5g.112840834T>GCA16032787APCc.5294T>G (p.Met1765Arg)
c.*5246T>G (n.*5246T>G)
c.5186T>G (p.Met1729Arg)
c.5240T>G (p.Met1747Arg)
c.*4562T>G (n.*4562T>G)
c.230+11862T>G
c.5270T>G (p.Met1757Arg)
c.5165T>G (p.Met1722Arg)
c.5156T>G (p.Met1719Arg)
c.5117T>G (p.Met1706Arg)
c.5063T>G (p.Met1688Arg)
c.4967T>G (p.Met1656Arg)
c.4937T>G (p.Met1646Arg)
c.4862T>G (p.Met1621Arg)
c.4760T>G (p.Met1587Arg)
c.4391T>G (p.Met1464Arg)
5g.112840834T=CA1573474941APCc.5294T= (p.Met1765=)
c.*5246T= (n.*5246T=)
c.5186T= (p.Met1729=)
c.5240T= (p.Met1747=)
c.*4562T= (n.*4562T=)
c.230+11862T=
c.5270T= (p.Met1757=)
c.5165T= (p.Met1722=)
c.5156T= (p.Met1719=)
c.5117T= (p.Met1706=)
c.5063T= (p.Met1688=)
c.4967T= (p.Met1656=)
c.4937T= (p.Met1646=)
c.4862T= (p.Met1621=)
c.4760T= (p.Met1587=)
c.4391T= (p.Met1464=)
5g.112840835G>ACA16032788APCc.5295G>A (p.Met1765Ile)
c.*5247G>A (n.*5247G>A)
c.5187G>A (p.Met1729Ile)
c.5241G>A (p.Met1747Ile)
c.*4563G>A (n.*4563G>A)
c.230+11863G>A
c.5271G>A (p.Met1757Ile)
c.5166G>A (p.Met1722Ile)
c.5157G>A (p.Met1719Ile)
c.5118G>A (p.Met1706Ile)
c.5064G>A (p.Met1688Ile)
c.4968G>A (p.Met1656Ile)
c.4938G>A (p.Met1646Ile)
c.4863G>A (p.Met1621Ile)
c.4761G>A (p.Met1587Ile)
c.4392G>A (p.Met1464Ile)
 ClinVar dbSNP gnomAD v4
5g.112840835G>CCA16032789APCc.5295G>C (p.Met1765Ile)
c.*5247G>C (n.*5247G>C)
c.5187G>C (p.Met1729Ile)
c.5241G>C (p.Met1747Ile)
c.*4563G>C (n.*4563G>C)
c.230+11863G>C
c.5271G>C (p.Met1757Ile)
c.5166G>C (p.Met1722Ile)
c.5157G>C (p.Met1719Ile)
c.5118G>C (p.Met1706Ile)
c.5064G>C (p.Met1688Ile)
c.4968G>C (p.Met1656Ile)
c.4938G>C (p.Met1646Ile)
c.4863G>C (p.Met1621Ile)
c.4761G>C (p.Met1587Ile)
c.4392G>C (p.Met1464Ile)
 dbSNP
5g.112840835G=CA1573474947APCc.5295G= (p.Met1765=)
c.*5247G= (n.*5247G=)
c.5187G= (p.Met1729=)
c.5241G= (p.Met1747=)
c.*4563G= (n.*4563G=)
c.230+11863G=
c.5271G= (p.Met1757=)
c.5166G= (p.Met1722=)
c.5157G= (p.Met1719=)
c.5118G= (p.Met1706=)
c.5064G= (p.Met1688=)
c.4968G= (p.Met1656=)
c.4938G= (p.Met1646=)
c.4863G= (p.Met1621=)
c.4761G= (p.Met1587=)
c.4392G= (p.Met1464=)
5g.112840835G>TCA16032790APCc.5295G>T (p.Met1765Ile)
c.*5247G>T (n.*5247G>T)
c.5187G>T (p.Met1729Ile)
c.5241G>T (p.Met1747Ile)
c.*4563G>T (n.*4563G>T)
c.230+11863G>T
c.5271G>T (p.Met1757Ile)
c.5166G>T (p.Met1722Ile)
c.5157G>T (p.Met1719Ile)
c.5118G>T (p.Met1706Ile)
c.5064G>T (p.Met1688Ile)
c.4968G>T (p.Met1656Ile)
c.4938G>T (p.Met1646Ile)
c.4863G>T (p.Met1621Ile)
c.4761G>T (p.Met1587Ile)
c.4392G>T (p.Met1464Ile)
5g.112840836G>ACA16032791APCc.5296G>A (p.Asp1766Asn)
c.*5248G>A (n.*5248G>A)
c.5188G>A (p.Asp1730Asn)
c.5242G>A (p.Asp1748Asn)
c.*4564G>A (n.*4564G>A)
c.230+11864G>A
c.5272G>A (p.Asp1758Asn)
c.5167G>A (p.Asp1723Asn)
c.5158G>A (p.Asp1720Asn)
c.5119G>A (p.Asp1707Asn)
c.5065G>A (p.Asp1689Asn)
c.4969G>A (p.Asp1657Asn)
c.4939G>A (p.Asp1647Asn)
c.4864G>A (p.Asp1622Asn)
c.4762G>A (p.Asp1588Asn)
c.4393G>A (p.Asp1465Asn)
 dbSNP COSMIC
5g.112840836G>CCA16032792APCc.5296G>C (p.Asp1766His)
c.*5248G>C (n.*5248G>C)
c.5188G>C (p.Asp1730His)
c.5242G>C (p.Asp1748His)
c.*4564G>C (n.*4564G>C)
c.230+11864G>C
c.5272G>C (p.Asp1758His)
c.5167G>C (p.Asp1723His)
c.5158G>C (p.Asp1720His)
c.5119G>C (p.Asp1707His)
c.5065G>C (p.Asp1689His)
c.4969G>C (p.Asp1657His)
c.4939G>C (p.Asp1647His)
c.4864G>C (p.Asp1622His)
c.4762G>C (p.Asp1588His)
c.4393G>C (p.Asp1465His)
 dbSNP
5g.112840836G>TCA16032793APCc.5296G>T (p.Asp1766Tyr)
c.*5248G>T (n.*5248G>T)
c.5188G>T (p.Asp1730Tyr)
c.5242G>T (p.Asp1748Tyr)
c.*4564G>T (n.*4564G>T)
c.230+11864G>T
c.5272G>T (p.Asp1758Tyr)
c.5167G>T (p.Asp1723Tyr)
c.5158G>T (p.Asp1720Tyr)
c.5119G>T (p.Asp1707Tyr)
c.5065G>T (p.Asp1689Tyr)
c.4969G>T (p.Asp1657Tyr)
c.4939G>T (p.Asp1647Tyr)
c.4864G>T (p.Asp1622Tyr)
c.4762G>T (p.Asp1588Tyr)
c.4393G>T (p.Asp1465Tyr)
 ClinVar dbSNP
5g.112840837A=CA1573474951APCc.5297A= (p.Asp1766=)
c.*5249A= (n.*5249A=)
c.5189A= (p.Asp1730=)
c.5243A= (p.Asp1748=)
c.*4565A= (n.*4565A=)
c.230+11865A=
c.5273A= (p.Asp1758=)
c.5168A= (p.Asp1723=)
c.5159A= (p.Asp1720=)
c.5120A= (p.Asp1707=)
c.5066A= (p.Asp1689=)
c.4970A= (p.Asp1657=)
c.4940A= (p.Asp1647=)
c.4865A= (p.Asp1622=)
c.4763A= (p.Asp1588=)
c.4394A= (p.Asp1465=)
5g.112840837A>CCA16032794APCc.5297A>C (p.Asp1766Ala)
c.*5249A>C (n.*5249A>C)
c.5189A>C (p.Asp1730Ala)
c.5243A>C (p.Asp1748Ala)
c.*4565A>C (n.*4565A>C)
c.230+11865A>C
c.5273A>C (p.Asp1758Ala)
c.5168A>C (p.Asp1723Ala)
c.5159A>C (p.Asp1720Ala)
c.5120A>C (p.Asp1707Ala)
c.5066A>C (p.Asp1689Ala)
c.4970A>C (p.Asp1657Ala)
c.4940A>C (p.Asp1647Ala)
c.4865A>C (p.Asp1622Ala)
c.4763A>C (p.Asp1588Ala)
c.4394A>C (p.Asp1465Ala)
5g.112840837A>GCA16032795APCc.5297A>G (p.Asp1766Gly)
c.*5249A>G (n.*5249A>G)
c.5189A>G (p.Asp1730Gly)
c.5243A>G (p.Asp1748Gly)
c.*4565A>G (n.*4565A>G)
c.230+11865A>G
c.5273A>G (p.Asp1758Gly)
c.5168A>G (p.Asp1723Gly)
c.5159A>G (p.Asp1720Gly)
c.5120A>G (p.Asp1707Gly)
c.5066A>G (p.Asp1689Gly)
c.4970A>G (p.Asp1657Gly)
c.4940A>G (p.Asp1647Gly)
c.4865A>G (p.Asp1622Gly)
c.4763A>G (p.Asp1588Gly)
c.4394A>G (p.Asp1465Gly)
 ClinVar dbSNP
5g.112840837A>TCA16032796APCc.5297A>T (p.Asp1766Val)
c.*5249A>T (n.*5249A>T)
c.5189A>T (p.Asp1730Val)
c.5243A>T (p.Asp1748Val)
c.*4565A>T (n.*4565A>T)
c.230+11865A>T
c.5273A>T (p.Asp1758Val)
c.5168A>T (p.Asp1723Val)
c.5159A>T (p.Asp1720Val)
c.5120A>T (p.Asp1707Val)
c.5066A>T (p.Asp1689Val)
c.4970A>T (p.Asp1657Val)
c.4940A>T (p.Asp1647Val)
c.4865A>T (p.Asp1622Val)
c.4763A>T (p.Asp1588Val)
c.4394A>T (p.Asp1465Val)
5g.112840838C>ACA16032797APCc.5298C>A (p.Asp1766Glu)
c.*5250C>A (n.*5250C>A)
c.5190C>A (p.Asp1730Glu)
c.5244C>A (p.Asp1748Glu)
c.*4566C>A (n.*4566C>A)
c.230+11866C>A
c.5274C>A (p.Asp1758Glu)
c.5169C>A (p.Asp1723Glu)
c.5160C>A (p.Asp1720Glu)
c.5121C>A (p.Asp1707Glu)
c.5067C>A (p.Asp1689Glu)
c.4971C>A (p.Asp1657Glu)
c.4941C>A (p.Asp1647Glu)
c.4866C>A (p.Asp1622Glu)
c.4764C>A (p.Asp1588Glu)
c.4395C>A (p.Asp1465Glu)
 dbSNP
5g.112840838C=CA1573474956APCc.5298C= (p.Asp1766=)
c.*5250C= (n.*5250C=)
c.5190C= (p.Asp1730=)
c.5244C= (p.Asp1748=)
c.*4566C= (n.*4566C=)
c.230+11866C=
c.5274C= (p.Asp1758=)
c.5169C= (p.Asp1723=)
c.5160C= (p.Asp1720=)
c.5121C= (p.Asp1707=)
c.5067C= (p.Asp1689=)
c.4971C= (p.Asp1657=)
c.4941C= (p.Asp1647=)
c.4866C= (p.Asp1622=)
c.4764C= (p.Asp1588=)
c.4395C= (p.Asp1465=)
5g.112840838C>GCA16032798APCc.5298C>G (p.Asp1766Glu)
c.*5250C>G (n.*5250C>G)
c.5190C>G (p.Asp1730Glu)
c.5244C>G (p.Asp1748Glu)
c.*4566C>G (n.*4566C>G)
c.230+11866C>G
c.5274C>G (p.Asp1758Glu)
c.5169C>G (p.Asp1723Glu)
c.5160C>G (p.Asp1720Glu)
c.5121C>G (p.Asp1707Glu)
c.5067C>G (p.Asp1689Glu)
c.4971C>G (p.Asp1657Glu)
c.4941C>G (p.Asp1647Glu)
c.4866C>G (p.Asp1622Glu)
c.4764C>G (p.Asp1588Glu)
c.4395C>G (p.Asp1465Glu)
 dbSNP
5g.112840838C>TCA041032APCc.5298C>T (p.Asp1766=)
c.*5250C>T (n.*5250C>T)
c.5190C>T (p.Asp1730=)
c.5244C>T (p.Asp1748=)
c.*4566C>T (n.*4566C>T)
c.230+11866C>T
c.5274C>T (p.Asp1758=)
c.5169C>T (p.Asp1723=)
c.5160C>T (p.Asp1720=)
c.5121C>T (p.Asp1707=)
c.5067C>T (p.Asp1689=)
c.4971C>T (p.Asp1657=)
c.4941C>T (p.Asp1647=)
c.4866C>T (p.Asp1622=)
c.4764C>T (p.Asp1588=)
c.4395C>T (p.Asp1465=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112840839C>ACA16032799APCc.5299C>A (p.Gln1767Lys)
c.*5251C>A (n.*5251C>A)
c.5191C>A (p.Gln1731Lys)
c.5245C>A (p.Gln1749Lys)
c.*4567C>A (n.*4567C>A)
c.230+11867C>A
c.5275C>A (p.Gln1759Lys)
c.5170C>A (p.Gln1724Lys)
c.5161C>A (p.Gln1721Lys)
c.5122C>A (p.Gln1708Lys)
c.5068C>A (p.Gln1690Lys)
c.4972C>A (p.Gln1658Lys)
c.4942C>A (p.Gln1648Lys)
c.4867C>A (p.Gln1623Lys)
c.4765C>A (p.Gln1589Lys)
c.4396C>A (p.Gln1466Lys)
 dbSNP
5g.112840839C=CA1573474968APCc.5299C= (p.Gln1767=)
c.*5251C= (n.*5251C=)
c.5191C= (p.Gln1731=)
c.5245C= (p.Gln1749=)
c.*4567C= (n.*4567C=)
c.230+11867C=
c.5275C= (p.Gln1759=)
c.5170C= (p.Gln1724=)
c.5161C= (p.Gln1721=)
c.5122C= (p.Gln1708=)
c.5068C= (p.Gln1690=)
c.4972C= (p.Gln1658=)
c.4942C= (p.Gln1648=)
c.4867C= (p.Gln1623=)
c.4765C= (p.Gln1589=)
c.4396C= (p.Gln1466=)
5g.112840839C>GCA16032800APCc.5299C>G (p.Gln1767Glu)
c.*5251C>G (n.*5251C>G)
c.5191C>G (p.Gln1731Glu)
c.5245C>G (p.Gln1749Glu)
c.*4567C>G (n.*4567C>G)
c.230+11867C>G
c.5275C>G (p.Gln1759Glu)
c.5170C>G (p.Gln1724Glu)
c.5161C>G (p.Gln1721Glu)
c.5122C>G (p.Gln1708Glu)
c.5068C>G (p.Gln1690Glu)
c.4972C>G (p.Gln1658Glu)
c.4942C>G (p.Gln1648Glu)
c.4867C>G (p.Gln1623Glu)
c.4765C>G (p.Gln1589Glu)
c.4396C>G (p.Gln1466Glu)
 ClinVar dbSNP
5g.112840839C>TCA16032801APCc.5299C>T (p.Gln1767Ter)
c.*5251C>T (n.*5251C>T)
c.5191C>T (p.Gln1731Ter)
c.5245C>T (p.Gln1749Ter)
c.*4567C>T (n.*4567C>T)
c.230+11867C>T
c.5275C>T (p.Gln1759Ter)
c.5170C>T (p.Gln1724Ter)
c.5161C>T (p.Gln1721Ter)
c.5122C>T (p.Gln1708Ter)
c.5068C>T (p.Gln1690Ter)
c.4972C>T (p.Gln1658Ter)
c.4942C>T (p.Gln1648Ter)
c.4867C>T (p.Gln1623Ter)
c.4765C>T (p.Gln1589Ter)
c.4396C>T (p.Gln1466Ter)
 dbSNP
5g.112840840A>CCA16032802APCc.5300A>C (p.Gln1767Pro)
c.*5252A>C (n.*5252A>C)
c.5192A>C (p.Gln1731Pro)
c.5246A>C (p.Gln1749Pro)
c.*4568A>C (n.*4568A>C)
c.230+11868A>C
c.5276A>C (p.Gln1759Pro)
c.5171A>C (p.Gln1724Pro)
c.5162A>C (p.Gln1721Pro)
c.5123A>C (p.Gln1708Pro)
c.5069A>C (p.Gln1690Pro)
c.4973A>C (p.Gln1658Pro)
c.4943A>C (p.Gln1648Pro)
c.4868A>C (p.Gln1623Pro)
c.4766A>C (p.Gln1589Pro)
c.4397A>C (p.Gln1466Pro)
5g.112840840A>GCA16032803APCc.5300A>G (p.Gln1767Arg)
c.*5252A>G (n.*5252A>G)
c.5192A>G (p.Gln1731Arg)
c.5246A>G (p.Gln1749Arg)
c.*4568A>G (n.*4568A>G)
c.230+11868A>G
c.5276A>G (p.Gln1759Arg)
c.5171A>G (p.Gln1724Arg)
c.5162A>G (p.Gln1721Arg)
c.5123A>G (p.Gln1708Arg)
c.5069A>G (p.Gln1690Arg)
c.4973A>G (p.Gln1658Arg)
c.4943A>G (p.Gln1648Arg)
c.4868A>G (p.Gln1623Arg)
c.4766A>G (p.Gln1589Arg)
c.4397A>G (p.Gln1466Arg)
 ClinVar dbSNP gnomAD v4
5g.112840840A>TCA16032804APCc.5300A>T (p.Gln1767Leu)
c.*5252A>T (n.*5252A>T)
c.5192A>T (p.Gln1731Leu)
c.5246A>T (p.Gln1749Leu)
c.*4568A>T (n.*4568A>T)
c.230+11868A>T
c.5276A>T (p.Gln1759Leu)
c.5171A>T (p.Gln1724Leu)
c.5162A>T (p.Gln1721Leu)
c.5123A>T (p.Gln1708Leu)
c.5069A>T (p.Gln1690Leu)
c.4973A>T (p.Gln1658Leu)
c.4943A>T (p.Gln1648Leu)
c.4868A>T (p.Gln1623Leu)
c.4766A>T (p.Gln1589Leu)
c.4397A>T (p.Gln1466Leu)
 dbSNP
5g.112840841G>ACA446209660APCc.5301G>A (p.Gln1767=)
c.*5253G>A (n.*5253G>A)
c.5193G>A (p.Gln1731=)
c.5247G>A (p.Gln1749=)
c.*4569G>A (n.*4569G>A)
c.230+11869G>A
c.5277G>A (p.Gln1759=)
c.5172G>A (p.Gln1724=)
c.5163G>A (p.Gln1721=)
c.5124G>A (p.Gln1708=)
c.5070G>A (p.Gln1690=)
c.4974G>A (p.Gln1658=)
c.4944G>A (p.Gln1648=)
c.4869G>A (p.Gln1623=)
c.4767G>A (p.Gln1589=)
c.4398G>A (p.Gln1466=)
 ClinVar dbSNP

Number of alleles fetched