HP haptoglobin

Canonical transcript: NM_005143

664 unique variant annotations were identified in 664 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
16-72088418-T-A c.-134T>A - IntergenicSNV 1/7 - 1
16-72088420-A-G c.-132A>G - IntergenicSNV 1/7 - 1
16-72088421-C-T c.-131C>T - IntergenicSNV 1/7 - 3
16-72088421-C-G c.-131C>G - IntergenicSNV 1/7 - 3
16-72088461-A-C c.-91A>C - IntergenicSNV 1/7 - 5
16-72088461-A-G c.-91A>G - IntergenicSNV 1/7 - 5
16-72088467-A-G c.-85A>G - IntergenicSNV 1/7 - 6
16-72088552-A-G c.1A>G p.Met1? Missense 1/7 - 2
16-72088553-T-C c.2T>C p.Met1? Missense 1/7 - 1
16-72088554-G-A c.3G>A p.Met1? Missense 1/7 - 1
16-72088652-C-T c.5+96C>T - IntronicSNV - 1/6 1
16-72088675-T-A c.5+119T>A - IntronicSNV - 1/6 1
16-72088675-T-C c.5+119T>C - IntronicSNV - 1/6 1
16-72088964-C-T c.5+408C>T - IntronicSNV - 1/6 2
16-72089740-A-G c.6-320A>G - IntronicSNV - 1/6 1
16-72090082-CTC-AAG c.28_30delinsAAG p.Leu10Lys Missense 2/7 - 3
16-72090082-CT-GC c.28_29delinsGC p.Leu10Ala Missense 2/7 - 5
16-72090082-C-A c.28C>A p.Leu10Ile Missense 2/7 - 1
16-72090082-C-G c.28C>G p.Leu10Val Missense 2/7 - 1
16-72090082-C-T c.28C>T p.Leu10Phe Missense 2/7 - 1
16-72090082-CTC-TAA c.28_30delinsTAA p.Leu10* Nonsense 2/7 - 1
16-72090083-T-C c.29T>C p.Leu10Pro Missense 2/7 - 1
16-72090085-CT-TC c.31_32delinsTC p.Leu11Ser Missense 2/7 - 2
16-72090085-CT-GA c.31_32delinsGA p.Leu11Glu Missense 2/7 - 1
16-72090085-CT-GC c.31_32delinsGC p.Leu11Ala Missense 2/7 - 2
16-72090085-CT-GG c.31_32delinsGG p.Leu11Gly Missense 2/7 - 1
16-72090085-CTG-GAC c.31_33delinsGAC p.Leu11Asp Missense 2/7 - 1
16-72090085-CTG-TTT c.31_33delinsTTT p.Leu11Phe Missense 2/7 - 2
16-72090087-G-C c.33G>C p.Leu11Leu Synonymous 2/7 - 1
16-72090088-CT-GC c.34_35delinsGC p.Leu12Ala Missense 2/7 - 2
16-72090088-C-T c.34C>T p.Leu12Phe Missense 2/7 - 1
16-72090089-T-C c.35T>C p.Leu12Pro Missense 2/7 - 1
16-72090091-TG-GC c.37_38delinsGC p.Trp13Ala Missense 2/7 - 4
16-72090091-T-G c.37T>G p.Trp13Gly Missense 2/7 - 1
16-72090092-GG-AT c.38_39delinsAT p.Trp13Tyr Missense 2/7 - 1
16-72090094-GGA-TTT c.40_42delinsTTT p.Gly14Phe Missense 2/7 - 1
16-72090094-GG-CT c.40_41delinsCT p.Gly14Leu Missense 2/7 - 1
16-72090095-G-A c.41G>A p.Gly14Glu Missense 2/7 - 1
16-72090097-CA-TC c.43_44delinsTC p.Gln15Ser Missense 2/7 - 1
16-72090097-CA-GC c.43_44delinsGC p.Gln15Ala Missense 2/7 - 2
16-72090098-A-G c.44A>G p.Gln15Arg Missense 2/7 - 1
16-72090098-A-T c.44A>T p.Gln15Leu Missense 2/7 - 1
16-72090100-CT-GG c.46_47delinsGG p.Leu16Gly Missense 2/7 - 1
16-72090100-CT-GC c.46_47delinsGC p.Leu16Ala Missense 2/7 - 4
16-72090100-CT-AC c.46_47delinsAC p.Leu16Thr Missense 2/7 - 1
16-72090103-T-C c.49T>C p.Phe17Leu Missense 2/7 - 2
16-72090103-T-G c.49T>G p.Phe17Val Missense 2/7 - 1
16-72090103-TTT-AAG c.49_51delinsAAG p.Phe17Lys Missense 2/7 - 1
16-72090103-TT-CG c.49_50delinsCG p.Phe17Arg Missense 2/7 - 1
16-72090103-TT-GG c.49_50delinsGG p.Phe17Gly Missense 2/7 - 1
16-72090105-T-G c.51T>G p.Phe17Leu Missense 2/7 - 2
16-72090103-TT-GC c.49_50delinsGC p.Phe17Ala Missense 2/7 - 2
16-72090105-T-A c.51T>A p.Phe17Leu Missense 2/7 - 2
16-72090106-G-C c.52G>C p.Ala18Pro Missense 2/7 - 1
16-72090106-GCA-TGT c.52_54delinsTGT p.Ala18Cys Missense 2/7 - 4
16-72090106-G-A c.52G>A p.Ala18Thr Missense 2/7 - 1
16-72090107-C-T c.53C>T p.Ala18Val Missense 2/7 - 1
16-72090109-G-A c.55G>A p.Val19Met Missense 2/7 - 2
16-72090109-GT-TG c.55_56delinsTG p.Val19Trp Missense 2/7 - 1
16-72090115-TCA-GAC c.61_63delinsGAC p.Ser21Asp Missense 2/7 - 1
16-72090115-TCA-AAC c.61_63delinsAAC p.Ser21Asn Missense 2/7 - 1
16-72090115-T-G c.61T>G p.Ser21Ala Missense 2/7 - 4
16-72090118-G-T c.64G>T p.Gly22Cys Missense 2/7 - 1
16-72090121-AA-GC c.67_68delinsGC p.Asn23Ala Missense 2/7 - 1
16-72090122-A-G c.68A>G p.Asn23Ser Missense 2/7 - 1
16-72090124-GA-CG c.70_71delinsCG p.Asp24Arg Missense 2/7 - 1
16-72090124-GA-TG c.70_71delinsTG p.Asp24Cys Missense 2/7 - 1
16-72090125-A-C c.71A>C p.Asp24Ala Missense 2/7 - 3
16-72090127-GT-TG c.73_74delinsTG p.Val25Cys Missense 2/7 - 1
16-72090127-G-C c.73G>C p.Val25Leu Missense 2/7 - 1
16-72090128-T-C c.74T>C p.Val25Ala Missense 2/7 - 2
16-72090130-A-C c.76A>C p.Thr26Pro Missense 2/7 - 1
16-72090134-A-C c.80A>C p.Asp27Ala Missense 2/7 - 2
16-72090136-ATC-TAA c.82_84delinsTAA p.Ile28* Nonsense 2/7 - 1
16-72090136-A-ACC c.82_83insCC p.Ile28Thrfs*42 Frameshift 2/7 - 1
16-72090139-GCA-TGT c.85_87delinsTGT p.Ala29Cys Missense 2/7 - 4
16-72090139-GCA-TTT c.85_87delinsTTT p.Ala29Phe Missense 2/7 - 2
16-72090140-C-G c.86C>G p.Ala29Gly Missense 2/7 - 1
16-72090141-A-T c.87A>T p.Ala29Ala Synonymous 2/7 - 1
16-72090141-A-G c.87A>G p.Ala29Ala Synonymous 2/7 - 1
16-72090141-A-C c.87A>C p.Ala29Ala Synonymous 2/7 - 1
16-72090142-G-A c.88G>A p.Asp30Asn Missense 2/7 - 2
16-72090429-A-C c.89A>C p.Asp30Ala Missense 3/7 - 4
16-72090429-A-G c.89A>G p.Asp30Gly Missense 3/7 - 2
16-72090430-T-C c.90T>C p.Asp30Asp Synonymous 3/7 - 1
16-72090431-GAC-AAG c.91_93delinsAAG p.Asp31Lys Missense 3/7 - 2
16-72090432-A-C c.92A>C p.Asp31Ala Missense 3/7 - 6
16-72090432-A-G c.92A>G p.Asp31Gly Missense 3/7 - 1
16-72090433-C-A c.93C>A p.Asp31Glu Missense 3/7 - 1
16-72090433-C-G c.93C>G p.Asp31Glu Missense 3/7 - 1
16-72090435-G-C c.95G>C p.Gly32Ala Missense 3/7 - 2
16-72090437-TG-GC c.97_98delinsGC p.Cys33Ala Missense 3/7 - 23
16-72090438-G-C c.98G>C p.Cys33Ser Missense 3/7 - 2
16-72090437-T-A c.97T>A p.Cys33Ser Missense 3/7 - 2
16-72090438-G-A c.98G>A p.Cys33Tyr Missense 3/7 - 1
16-72090439-C-T c.99C>T p.Cys33Cys Synonymous 3/7 - 1
16-72090440-CC-GA c.100_101delinsGA p.Pro34Glu Missense 3/7 - 1
16-72090440-CCG-TAT c.100_102delinsTAT p.Pro34Tyr Missense 3/7 - 1
16-72090443-AAG-GAC c.103_105delinsGAC p.Lys35Asp Missense 3/7 - 2
16-72090443-AAG-CAT c.103_105delinsCAT p.Lys35His Missense 3/7 - 1
16-72090443-AA-GC c.103_104delinsGC p.Lys35Ala Missense 3/7 - 2
16-72090444-AG-TC c.104_105delinsTC p.Lys35Ile Missense 3/7 - 1
16-72090444-A-G c.104A>G p.Lys35Arg Missense 3/7 - 2
16-72090444-A-AA c.104dup p.Pro36Alafs*18 Frameshift 3/7 - 1
16-72090447-C-G c.107C>G p.Pro36Arg Missense 3/7 - 1
16-72090447-C-T c.107C>T p.Pro36Leu Missense 3/7 - 1
16-72090448-C-A c.108C>A p.Pro36Pro Synonymous 3/7 - 2
16-72090448-C-T c.108C>T p.Pro36Pro Synonymous 3/7 - 2
16-72090448-C-G c.108C>G p.Pro36Pro Synonymous 3/7 - 2
16-72090450-C-T c.110C>T p.Pro37Leu Missense 3/7 - 1
16-72090451-C-A c.111C>A p.Pro37Pro Synonymous 3/7 - 1
16-72090452-G-A c.112G>A p.Glu38Lys Missense 3/7 - 3
16-72090452-G-T c.112G>T p.Glu38* Nonsense 3/7 - 1
16-72090453-A-C c.113A>C p.Glu38Ala Missense 3/7 - 2
16-72090455-AT-GC c.115_116delinsGC p.Ile39Ala Missense 3/7 - 2
16-72090455-AT-TG c.115_116delinsTG p.Ile39Cys Missense 3/7 - 1
16-72090456-T-C c.116T>C p.Ile39Thr Missense 3/7 - 1
16-72090458-GCA-TTT c.118_120delinsTTT p.Ala40Phe Missense 3/7 - 1
16-72090458-GCA-TGT c.118_120delinsTGT p.Ala40Cys Missense 3/7 - 1
16-72090461-CA-GC c.121_122delinsGC p.His41Ala Missense 3/7 - 6
16-72090461-CA-TG c.121_122inv p.His41Cys Missense 3/7 - 2
16-72090464-G-A c.124G>A p.Gly42Ser Missense 3/7 - 2
16-72090465-G-C c.125G>C p.Gly42Ala Missense 3/7 - 2
16-72090465-G-A c.125G>A p.Gly42Asp Missense 3/7 - 1
16-72090467-TA-GC c.127_128delinsGC p.Tyr43Ala Missense 3/7 - 1
16-72090467-TA-CT c.127_128delinsCT p.Tyr43Leu Missense 3/7 - 1
16-72090468-AT-GG c.128_129delinsGG p.Tyr43Trp Missense 3/7 - 1
16-72090468-A-T c.128A>T p.Tyr43Phe Missense 3/7 - 1
16-72090470-GT-AC c.130_131inv p.Val44Thr Missense 3/7 - 1
16-72090470-G-A c.130G>A p.Val44Met Missense 3/7 - 1
16-72090471-T-C c.131T>C p.Val44Ala Missense 3/7 - 2
16-72090471-T-A c.131T>A p.Val44Glu Missense 3/7 - 1
16-72090471-TG-AC c.131_132delinsAC p.Val44Asp Missense 3/7 - 1
16-72090473-G-C c.133G>C p.Glu45Gln Missense 3/7 - 1
16-72090473-GAG-TGT c.133_135delinsTGT p.Glu45Cys Missense 3/7 - 2
16-72090474-A-C c.134A>C p.Glu45Ala Missense 3/7 - 5
16-72090476-CAC-GAG c.136_138delinsGAG p.His46Glu Missense 3/7 - 2
16-72090476-CA-GC c.136_137delinsGC p.His46Ala Missense 3/7 - 3
16-72090476-CA-GG c.136_137delinsGG p.His46Gly Missense 3/7 - 1
16-72090477-A-G c.137A>G p.His46Arg Missense 3/7 - 5
16-72090479-T-A c.139T>A p.Ser47Thr Missense 3/7 - 1
16-72090485-C-T c.145C>T p.Arg49Cys Missense 3/7 - 1
16-72090485-CGC-AAG c.145_147delinsAAG p.Arg49Lys Missense 3/7 - 1
16-72090486-G-C c.146G>C p.Arg49Pro Missense 3/7 - 1
16-72090486-GC-AA c.146_147delinsAA p.Arg49Gln Missense 3/7 - 1
16-72090489-AC-GG c.149_150delinsGG p.Tyr50Trp Missense 3/7 - 1
16-72090489-A-T c.149A>T p.Tyr50Phe Missense 3/7 - 1
16-72090491-CA-GC c.151_152delinsGC p.Gln51Ala Missense 3/7 - 1
16-72090491-CAG-TGT c.151_153delinsTGT p.Gln51Cys Missense 3/7 - 1
16-72090494-TG-CT c.154_155delinsCT p.Cys52Leu Missense 3/7 - 2
16-72090494-TG-GC c.154_155delinsGC p.Cys52Ala Missense 3/7 - 2
16-72090495-G-C c.155G>C p.Cys52Ser Missense 3/7 - 1
16-72090494-T-A c.154T>A p.Cys52Ser Missense 3/7 - 1
16-72090495-G-A c.155G>A p.Cys52Tyr Missense 3/7 - 1
16-72090497-AAG-GAC c.157_159delinsGAC p.Lys53Asp Missense 3/7 - 1
16-72090497-A-G c.157A>G p.Lys53Glu Missense 3/7 - 1
16-72090497-AA-GC c.157_158delinsGC p.Lys53Ala Missense 3/7 - 1
16-72090503-TA-GC c.163_164delinsGC p.Tyr55Ala Missense 3/7 - 3
16-72090506-TA-GC c.166_167delinsGC p.Tyr56Ala Missense 3/7 - 1
16-72090507-A-C c.167A>C p.Tyr56Ser Missense 3/7 - 1
16-72090508-C-A c.168C>A p.Tyr56* Nonsense 3/7 - 1
16-72090508-C-G c.168C>G p.Tyr56* Nonsense 3/7 - 1
16-72090509-AA-GC c.169_170delinsGC p.Lys57Ala Missense 3/7 - 2
16-72090512-CT-TC c.172_173delinsTC p.Leu58Ser Missense 3/7 - 1
16-72090516-G-T c.176G>T p.Arg59Leu Missense 3/7 - 2
16-72090518-A-G c.178A>G p.Thr60Ala Missense 3/7 - 5
16-72090518-ACA-TGT c.178_180inv p.Thr60Cys Missense 3/7 - 1
16-72090521-GA-AG c.181_182delinsAG p.Glu61Arg Missense 3/7 - 1
16-72090521-G-A c.181G>A p.Glu61Lys Missense 3/7 - 1
16-72090522-A-G c.182A>G p.Glu61Gly Missense 3/7 - 1
16-72090522-A-C c.182A>C p.Glu61Ala Missense 3/7 - 2
16-72090522-A-T c.182A>T p.Glu61Val Missense 3/7 - 1
16-72090524-G-C c.184G>C p.Gly62Arg Missense 3/7 - 1
16-72090524-G-A c.184G>A p.Gly62Arg Missense 3/7 - 1
16-72090527-GA-TG c.187_188delinsTG p.Asp63Cys Missense 3/7 - 1
16-72090529-T-G c.189T>G p.Asp63Glu Missense 3/7 - 1
16-72090529-T-A c.189T>A p.Asp63Glu Missense 3/7 - 1
16-72091291-G-C c.191G>C p.Gly64Ala Missense 4/7 - 1
16-72091291-GA-AC c.191_192delinsAC p.Gly64Asp Missense 4/7 - 1
16-72091293-GT-AA c.193_194delinsAA p.Val65Lys Missense 4/7 - 1
16-72091296-TA-CT c.196_197delinsCT p.Tyr66Leu Missense 4/7 - 1
16-72091296-T-C c.196T>C p.Tyr66His Missense 4/7 - 3
16-72091297-AC-GG c.197_198delinsGG p.Tyr66Trp Missense 4/7 - 4
16-72091297-A-T c.197A>T p.Tyr66Phe Missense 4/7 - 1
16-72091297-A-C c.197A>C p.Tyr66Ser Missense 4/7 - 1
16-72091299-AC-CA c.199_200delinsCA p.Thr67His Missense 4/7 - 1
16-72091299-AC-CT c.199_200delinsCT p.Thr67Leu Missense 4/7 - 1
16-72091299-A-T c.199A>T p.Thr67Ser Missense 4/7 - 1
16-72091300-C-G c.200C>G p.Thr67Ser Missense 4/7 - 1
16-72091302-TTA-GAC c.202_204delinsGAC p.Leu68Asp Missense 4/7 - 1
16-72091302-TT-CA c.202_203delinsCA p.Leu68Gln Missense 4/7 - 1
16-72091302-TT-GA c.202_203delinsGA p.Leu68Glu Missense 4/7 - 1
16-72091302-T-G c.202T>G p.Leu68Val Missense 4/7 - 1
16-72091308-G-A c.208G>A p.Asp70Asn Missense 4/7 - 3
16-72091308-GA-CC c.208_209delinsCC p.Asp70Pro Missense 4/7 - 1
16-72091308-GA-AG c.208_209delinsAG p.Asp70Ser Missense 4/7 - 2
16-72091309-A-C c.209A>C p.Asp70Ala Missense 4/7 - 4
16-72091309-A-G c.209A>G p.Asp70Gly Missense 4/7 - 1
16-72091311-AA-GC c.211_212delinsGC p.Lys71Ala Missense 4/7 - 1
16-72091311-A-G c.211A>G p.Lys71Glu Missense 4/7 - 3
16-72091312-A-G c.212A>G p.Lys71Arg Missense 4/7 - 1
16-72091312-A-T c.212A>T p.Lys71Met Missense 4/7 - 1
16-72091314-AAG-CAT c.214_216delinsCAT p.Lys72His Missense 4/7 - 1
16-72091314-AA-GC c.214_215delinsGC p.Lys72Ala Missense 4/7 - 4
16-72091314-A-G c.214A>G p.Lys72Glu Missense 4/7 - 2
16-72091315-A-G c.215A>G p.Lys72Arg Missense 4/7 - 3
16-72091320-TG-GC c.220_221delinsGC p.Trp74Ala Missense 4/7 - 1
16-72091321-GG-TT c.221_222delinsTT p.Trp74Phe Missense 4/7 - 1
16-72091327-AT-GG c.227_228delinsGG p.Asn76Arg Missense 4/7 - 1
16-72091329-A-C c.229A>C p.Lys77Gln Missense 4/7 - 1
16-72091329-AA-GC c.229_230delinsGC p.Lys77Ala Missense 4/7 - 3
16-72091329-AAG-TGT c.229_231delinsTGT p.Lys77Cys Missense 4/7 - 1
16-72091332-G-A c.232G>A p.Ala78Thr Missense 4/7 - 1
16-72091332-G-T c.232G>T p.Ala78Ser Missense 4/7 - 1
16-72091333-C-A c.233C>A p.Ala78Asp Missense 4/7 - 1
16-72091335-G-A c.235G>A p.Val79Ile Missense 4/7 - 2
16-72091335-G-C c.235G>C p.Val79Leu Missense 4/7 - 1
16-72091336-T-C c.236T>C p.Val79Ala Missense 4/7 - 1
16-72091336-TT-AG c.236_237delinsAG p.Val79Glu Missense 4/7 - 1
16-72091341-G-A c.241G>A p.Asp81Asn Missense 4/7 - 2
16-72091342-A-C c.242A>C p.Asp81Ala Missense 4/7 - 2
16-72091343-T-G c.243T>G p.Asp81Glu Missense 4/7 - 2
16-72091343-T-A c.243T>A p.Asp81Glu Missense 4/7 - 2
16-72091344-AAA-CAT c.244_246delinsCAT p.Lys82His Missense 4/7 - 1
16-72091344-AAA-GAC c.244_246delinsGAC p.Lys82Asp Missense 4/7 - 1
16-72091345-AA-TG c.245_246delinsTG p.Lys82Met Missense 4/7 - 1
16-72091347-CT-GC c.247_248delinsGC p.Leu83Ala Missense 4/7 - 3
16-72091351-C-T c.251C>T p.Pro84Leu Missense 4/7 - 3
16-72091354-A-C c.254A>C p.Glu85Ala Missense 4/7 - 1
16-72091355-A-T c.255A>T p.Glu85Asp Missense 4/7 - 2
16-72091355-A-C c.255A>C p.Glu85Asp Missense 4/7 - 2
16-72091358-T-A c.258T>A p.Cys86* Nonsense 4/7 - 1
16-72091360-A-C c.260A>C p.Glu87Ala Missense 4/7 - 2
16-72091360-A-G c.260A>G p.Glu87Gly Missense 4/7 - 2
16-72091363-C-T c.263C>T p.Ala88Val Missense 4/7 - 2
16-72091363-GC-G c.263del p.Ala88Glufs*40 Frameshift 4/7 - 1
16-72092153-A-G c.266A>G p.Asp89Gly Missense 5/7 - 1
16-72092153-A-C c.266A>C p.Asp89Ala Missense 5/7 - 3
16-72092155-G-T c.268G>T p.Asp90Tyr Missense 5/7 - 1
16-72092156-A-C c.269A>C p.Asp90Ala Missense 5/7 - 1
16-72092156-A-G c.269A>G p.Asp90Gly Missense 5/7 - 1
16-72092161-TG-GC c.274_275delinsGC p.Cys92Ala Missense 5/7 - 2
16-72092161-T-A c.274T>A p.Cys92Ser Missense 5/7 - 2
16-72092162-G-C c.275G>C p.Cys92Ser Missense 5/7 - 2
16-72092164-CC-GG c.277_278inv p.Pro93Gly Missense 5/7 - 1
16-72092167-AA-GC c.280_281delinsGC p.Lys94Ala Missense 5/7 - 1
16-72092168-A-C c.281A>C p.Lys94Thr Missense 5/7 - 1
16-72092169-G-A c.282G>A p.Lys94Lys Synonymous 5/7 - 1
16-72092170-C-T c.283C>T p.Pro95Ser Missense 5/7 - 1
16-72092171-C-T c.284C>T p.Pro95Leu Missense 5/7 - 1
16-72092174-C-A c.287C>A p.Pro96His Missense 5/7 - 1
16-72092176-GA-TC c.289_290inv p.Glu97Ser Missense 5/7 - 1
16-72092177-A-C c.290A>C p.Glu97Ala Missense 5/7 - 1
16-72092179-AT-GC c.292_293delinsGC p.Ile98Ala Missense 5/7 - 1
16-72092182-GC-CT c.295_296delinsCT p.Ala99Leu Missense 5/7 - 2
16-72092182-GCA-TGT c.295_297delinsTGT p.Ala99Cys Missense 5/7 - 1
16-72092183-CA-AC c.296_297delinsAC p.Ala99Asp Missense 5/7 - 3
16-72092183-C-T c.296C>T p.Ala99Val Missense 5/7 - 1
16-72092185-C-A c.298C>A p.His100Asn Missense 5/7 - 1
16-72092185-CA-GC c.298_299delinsGC p.His100Ala Missense 5/7 - 2
16-72092187-T-G c.300T>G p.His100Gln Missense 5/7 - 1
16-72092187-T-A c.300T>A p.His100Gln Missense 5/7 - 1
16-72092188-G-A c.301G>A p.Gly101Ser Missense 5/7 - 1
16-72092189-G-C c.302G>C p.Gly101Ala Missense 5/7 - 1
16-72092189-GC-AG c.302_303delinsAG p.Gly101Glu Missense 5/7 - 1
16-72092191-T-C c.304T>C p.Tyr102His Missense 5/7 - 2
16-72092191-TA-GC c.304_305delinsGC p.Tyr102Ala Missense 5/7 - 2
16-72092191-TA-CT c.304_305delinsCT p.Tyr102Leu Missense 5/7 - 1
16-72092194-GTG-ATC c.307_309delinsATC p.Val103Ile Missense 5/7 - 1
16-72092197-G-A c.310G>A p.Glu104Lys Missense 5/7 - 4
16-72092197-GA-CC c.310_311delinsCC p.Glu104Pro Missense 5/7 - 1
16-72092198-A-C c.311A>C p.Glu104Ala Missense 5/7 - 2
16-72092199-G-C c.312G>C p.Glu104Asp Missense 5/7 - 1
16-72092199-G-T c.312G>T p.Glu104Asp Missense 5/7 - 1
16-72092200-C-T c.313C>T p.His105Tyr Missense 5/7 - 1
16-72092200-CA-GC c.313_314delinsGC p.His105Ala Missense 5/7 - 2
16-72092203-TC-GA c.316_317inv p.Ser106Glu Missense 5/7 - 1
16-72092203-TCG-GAC c.316_318delinsGAC p.Ser106Asp Missense 5/7 - 1
16-72092203-TCG-AAC c.316_318delinsAAC p.Ser106Asn Missense 5/7 - 1
16-72092203-TC-GG c.316_317delinsGG p.Ser106Gly Missense 5/7 - 1
16-72092203-T-G c.316T>G p.Ser106Ala Missense 5/7 - 2
16-72092205-G-A c.318G>A p.Ser106Ser Synonymous 5/7 - 1
16-72092206-GT-TG c.319_320delinsTG p.Val107Cys Missense 5/7 - 2
16-72092206-GTT-TAA c.319_321delinsTAA p.Val107* Nonsense 5/7 - 1
16-72092206-GT-AA c.319_320delinsAA p.Val107Asn Missense 5/7 - 1
16-72092206-G-C c.319G>C p.Val107Leu Missense 5/7 - 1
16-72092206-GTT-ATG c.319_321delinsATG p.Val107Met Missense 5/7 - 1
16-72092206-GTT-AAG c.319_321delinsAAG p.Val107Lys Missense 5/7 - 1
16-72092207-T-A c.320T>A p.Val107Asp Missense 5/7 - 1
16-72092207-T-C c.320T>C p.Val107Ala Missense 5/7 - 2
16-72092209-CGC-GAG c.322_324delinsGAG p.Arg108Glu Missense 5/7 - 1
16-72092209-CG-TT c.322_323delinsTT p.Arg108Phe Missense 5/7 - 1
16-72092210-G-T c.323G>T p.Arg108Leu Missense 5/7 - 1
16-72092210-G-A c.323G>A p.Arg108His Missense 5/7 - 1
16-72092210-GC-AA c.323_324delinsAA p.Arg108Gln Missense 5/7 - 1
16-72092212-TA-GC c.325_326delinsGC p.Tyr109Ala Missense 5/7 - 1
16-72092213-A-C c.326A>C p.Tyr109Ser Missense 5/7 - 1
16-72092218-TG-AC c.331_332delinsAC p.Cys111Thr Missense 5/7 - 1
16-72092219-G-C c.332G>C p.Cys111Ser Missense 5/7 - 1
16-72092218-TG-GC c.331_332delinsGC p.Cys111Ala Missense 5/7 - 1
16-72092218-T-A c.331T>A p.Cys111Ser Missense 5/7 - 1
16-72092219-G-A c.332G>A p.Cys111Tyr Missense 5/7 - 2
16-72092221-AA-GC c.334_335delinsGC p.Lys112Ala Missense 5/7 - 1
16-72092221-AAG-GAC c.334_336delinsGAC p.Lys112Asp Missense 5/7 - 1
16-72092221-A-G c.334A>G p.Lys112Glu Missense 5/7 - 1
16-72092221-AA-CT c.334_335delinsCT p.Lys112Leu Missense 5/7 - 1
16-72092222-A-G c.335A>G p.Lys112Arg Missense 5/7 - 2
16-72092225-AC-GG c.338_339delinsGG p.Asn113Arg Missense 5/7 - 1
16-72092227-TA-GC c.340_341delinsGC p.Tyr114Ala Missense 5/7 - 2
16-72092231-A-T c.344A>T p.Tyr115Phe Missense 5/7 - 1
16-72092233-AA-GC c.346_347delinsGC p.Lys116Ala Missense 5/7 - 2
16-72092233-A-G c.346A>G p.Lys116Glu Missense 5/7 - 1
16-72092236-C-T c.349C>T p.Leu117Leu Synonymous 5/7 - 1
16-72092236-CT-GC c.349_350delinsGC p.Leu117Ala Missense 5/7 - 1
16-72092236-CT-AA c.349_350delinsAA p.Leu117Lys Missense 5/7 - 1
16-72092236-CTG-GAC c.349_351delinsGAC p.Leu117Asp Missense 5/7 - 1
16-72092236-CT-TG c.349_350delinsTG p.Leu117Trp Missense 5/7 - 1
16-72092237-T-A c.350T>A p.Leu117Gln Missense 5/7 - 1
16-72092237-T-G c.350T>G p.Leu117Arg Missense 5/7 - 2
16-72092239-CGC-GAG c.352_354delinsGAG p.Arg118Glu Missense 5/7 - 1
16-72092239-C-T c.352C>T p.Arg118Cys Missense 5/7 - 2
16-72092239-C-G c.352C>G p.Arg118Gly Missense 5/7 - 2
16-72092242-AC-GT c.355_356inv p.Thr119Val Missense 5/7 - 1
16-72092243-CA-TG c.356_357inv p.Thr119Met Missense 5/7 - 2
16-72092243-C-T c.356C>T p.Thr119Ile Missense 5/7 - 2
16-72092246-A-C c.359A>C p.Glu120Ala Missense 5/7 - 2
16-72092248-G-A c.361G>A p.Gly121Arg Missense 5/7 - 1
16-72092249-G-T c.362G>T p.Gly121Val Missense 5/7 - 1
16-72092252-A-C c.365A>C p.Asp122Ala Missense 5/7 - 1
16-72092252-A-G c.365A>G p.Asp122Gly Missense 5/7 - 2
16-72092254-G-A c.367G>A p.Gly123Arg Missense 5/7 - 1
16-72093013-G-C c.368G>C p.Gly123Ala Missense 6/7 - 1
16-72093019-A-T c.374A>T p.Tyr125Phe Missense 6/7 - 2
16-72093021-AC-CA c.376_377delinsCA p.Thr126His Missense 6/7 - 2
16-72093022-CC-TG c.377_378delinsTG p.Thr126Met Missense 6/7 - 1
16-72093025-TA-GT c.380_381delinsGT p.Leu127Cys Missense 6/7 - 1
16-72093027-AA-GC c.382_383delinsGC p.Asn128Ala Missense 6/7 - 1
16-72093030-AA-GC c.385_386delinsGC p.Asn129Ala Missense 6/7 - 1
16-72093030-A-G c.385A>G p.Asn129Asp Missense 6/7 - 1
16-72093033-GAG-TGT c.388_390delinsTGT p.Glu130Cys Missense 6/7 - 1
16-72093033-G-A c.388G>A p.Glu130Lys Missense 6/7 - 1
16-72093036-AAG-GAC c.391_393delinsGAC p.Lys131Asp Missense 6/7 - 2
16-72093036-AA-GC c.391_392delinsGC p.Lys131Ala Missense 6/7 - 1
16-72093040-A-G c.395A>G p.Gln132Arg Missense 6/7 - 1
16-72093043-GG-TT c.398_399delinsTT p.Trp133Phe Missense 6/7 - 1
16-72093051-AA-GG c.406_407delinsGG p.Lys136Gly Missense 6/7 - 1
16-72093051-AA-GC c.406_407delinsGC p.Lys136Ala Missense 6/7 - 2
16-72093057-GT-TG c.412_413delinsTG p.Val138Cys Missense 6/7 - 1
16-72093061-G-T c.416G>T p.Gly139Val Missense 6/7 - 1
16-72093064-A-C c.419A>C p.Asp140Ala Missense 6/7 - 4
16-72093066-AA-GC c.421_422delinsGC p.Lys141Ala Missense 6/7 - 1
16-72093066-A-G c.421A>G p.Lys141Glu Missense 6/7 - 1
16-72093067-A-C c.422A>C p.Lys141Thr Missense 6/7 - 1
16-72093076-A-G c.431A>G p.Glu144Gly Missense 6/7 - 1
16-72093079-G-C c.434G>C p.Cys145Ser Missense 6/7 - 1
16-72093078-T-G c.433T>G p.Cys145Gly Missense 6/7 - 2
16-72093078-T-A c.433T>A p.Cys145Ser Missense 6/7 - 1
16-72093081-G-A c.436G>A p.Glu146Lys Missense 6/7 - 1
16-72094013-T-C c.445T>C p.Cys149Arg Missense 7/7 - 1
16-72094013-T-A c.445T>A p.Cys149Ser Missense 7/7 - 2
16-72094013-TG-GC c.445_446delinsGC p.Cys149Ala Missense 7/7 - 1
16-72094014-G-C c.446G>C p.Cys149Ser Missense 7/7 - 2
16-72094014-G-A c.446G>A p.Cys149Tyr Missense 7/7 - 1
16-72094016-GGG-TGT c.448_450delinsTGT p.Gly150Cys Missense 7/7 - 1
16-72094016-GGG-TTT c.448_450delinsTTT p.Gly150Phe Missense 7/7 - 2
16-72094019-AA-GC c.451_452delinsGC p.Lys151Ala Missense 7/7 - 2
16-72094019-A-G c.451A>G p.Lys151Glu Missense 7/7 - 1
16-72094025-AA-GC c.457_458delinsGC p.Lys153Ala Missense 7/7 - 1
16-72094028-AA-GC c.460_461delinsGC p.Asn154Ala Missense 7/7 - 1
16-72094028-A-G c.460A>G p.Asn154Asp Missense 7/7 - 2
16-72094028-AAT-CAA c.460_462delinsCAA p.Asn154Gln Missense 7/7 - 1
16-72094028-AA-TG c.460_461delinsTG p.Asn154Cys Missense 7/7 - 1
16-72094031-C-T c.463C>T p.Pro155Ser Missense 7/7 - 1
16-72094032-C-T c.464C>T p.Pro155Leu Missense 7/7 - 1
16-72094034-G-A c.466G>A p.Ala156Thr Missense 7/7 - 4
16-72094037-AA-GG c.469_470delinsGG p.Asn157Gly Missense 7/7 - 1
16-72094037-AA-GC c.469_470delinsGC p.Asn157Ala Missense 7/7 - 1
16-72094038-A-C c.470A>C p.Asn157Thr Missense 7/7 - 1
16-72094040-C-A c.472C>A p.Pro158Thr Missense 7/7 - 1
16-72094041-C-T c.473C>T p.Pro158Leu Missense 7/7 - 1
16-72094043-GTG-ATC c.475_477delinsATC p.Val159Ile Missense 7/7 - 1
16-72094047-A-G c.479A>G p.Gln160Arg Missense 7/7 - 1
16-72094048-G-C c.480G>C p.Gln160His Missense 7/7 - 1
16-72094048-G-T c.480G>T p.Gln160His Missense 7/7 - 1
16-72094049-CG-GC c.481_482delinsGC p.Arg161Ala Missense 7/7 - 1
16-72094049-CGG-TGT c.481_483delinsTGT p.Arg161Cys Missense 7/7 - 1
16-72094050-GG-AT c.482_483delinsAT p.Arg161His Missense 7/7 - 1
16-72094052-A-C c.484A>C p.Ile162Leu Missense 7/7 - 1
16-72094052-A-G c.484A>G p.Ile162Val Missense 7/7 - 1
16-72094055-C-A c.487C>A p.Leu163Met Missense 7/7 - 1
16-72094061-G-A c.493G>A p.Gly165Arg Missense 7/7 - 1
16-72094063-A-T c.495A>T p.Gly165Gly Synonymous 7/7 - 1
16-72094064-C-A c.496C>A p.His166Asn Missense 7/7 - 1
16-72094064-C-T c.496C>T p.His166Tyr Missense 7/7 - 1
16-72094064-CA-GC c.496_497delinsGC p.His166Ala Missense 7/7 - 3
16-72094064-CA-GG c.496_497delinsGG p.His166Gly Missense 7/7 - 1
16-72094070-G-A c.502G>A p.Asp168Asn Missense 7/7 - 1
16-72094071-A-C c.503A>C p.Asp168Ala Missense 7/7 - 1
16-72094073-GC-CT c.505_506delinsCT p.Ala169Leu Missense 7/7 - 1
16-72094073-GCC-TGG c.505_507delinsTGG p.Ala169Trp Missense 7/7 - 1
16-72094076-AA-GT c.508_509delinsGT p.Lys170Val Missense 7/7 - 1
16-72094076-AA-GC c.508_509delinsGC p.Lys170Ala Missense 7/7 - 2
16-72094080-G-A c.512G>A p.Gly171Asp Missense 7/7 - 1
16-72094082-AG-CC c.514_515delinsCC p.Ser172Pro Missense 7/7 - 1
16-72094082-AG-GC c.514_515delinsGC p.Ser172Ala Missense 7/7 - 1
16-72094082-A-T c.514A>T p.Ser172Cys Missense 7/7 - 1
16-72094088-C-T c.520C>T p.Pro174Ser Missense 7/7 - 1
16-72094092-GG-TT c.524_525delinsTT p.Trp175Phe Missense 7/7 - 1
16-72094093-G-C c.525G>C p.Trp175Cys Missense 7/7 - 1
16-72094093-G-T c.525G>T p.Trp175Cys Missense 7/7 - 1
16-72094094-CAG-TGT c.526_528delinsTGT p.Gln176Cys Missense 7/7 - 1
16-72094101-A-G c.533A>G p.Lys178Arg Missense 7/7 - 1
16-72094102-G-T c.534G>T p.Lys178Asn Missense 7/7 - 1
16-72094102-G-C c.534G>C p.Lys178Asn Missense 7/7 - 1
16-72094103-ATG-TGT c.535_537delinsTGT p.Met179Cys Missense 7/7 - 1
16-72094106-G-T c.538G>T p.Val180Phe Missense 7/7 - 1
16-72094107-T-G c.539T>G p.Val180Gly Missense 7/7 - 1
16-72094109-T-G c.541T>G p.Ser181Ala Missense 7/7 - 1
16-72094109-TCC-ATG c.541_543delinsATG p.Ser181Met Missense 7/7 - 1
16-72094115-CA-GC c.547_548delinsGC p.His183Ala Missense 7/7 - 2
16-72094119-A-G c.551A>G p.Asn184Ser Missense 7/7 - 1
16-72094120-T-G c.552T>G p.Asn184Lys Missense 7/7 - 1
16-72094120-T-A c.552T>A p.Asn184Lys Missense 7/7 - 1
16-72094121-CT-GC c.553_554delinsGC p.Leu185Ala Missense 7/7 - 1
16-72094122-T-G c.554T>G p.Leu185Arg Missense 7/7 - 1
16-72094124-A-C c.556A>C p.Thr186Pro Missense 7/7 - 1
16-72094124-AC-TG c.556_557delinsTG p.Thr186Cys Missense 7/7 - 1
16-72094127-A-G c.559A>G p.Thr187Ala Missense 7/7 - 1
16-72094130-G-C c.562G>C p.Gly188Arg Missense 7/7 - 1
16-72094130-GG-CT c.562_563delinsCT p.Gly188Leu Missense 7/7 - 1
16-72094134-C-G c.566C>G p.Ala189Gly Missense 7/7 - 1
16-72094134-C-T c.566C>T p.Ala189Val Missense 7/7 - 1
16-72094136-A-G c.568A>G p.Thr190Ala Missense 7/7 - 1
16-72094137-C-T c.569C>T p.Thr190Met Missense 7/7 - 1
16-72094142-AT-GG c.574_575delinsGG p.Ile192Gly Missense 7/7 - 1
16-72094145-AA-GC c.577_578delinsGC p.Asn193Ala Missense 7/7 - 1
16-72094148-G-A c.580G>A p.Glu194Lys Missense 7/7 - 1
16-72094150-A-G c.582A>G p.Glu194Glu Synonymous 7/7 - 1
16-72094151-CA-AC c.583_584delinsAC p.Gln195Thr Missense 7/7 - 1
16-72094155-TGGCTGCTGACCACGGCTAAAAATCTCT-T c.587_613del p.Trp196_Leu204del InFrameDeletion 7/7 - 1
16-72094157-CT-GC c.589_590delinsGC p.Leu197Ala Missense 7/7 - 1
16-72094159-G-A c.591G>A p.Leu197Leu Synonymous 7/7 - 1
16-72094160-CT-GC c.592_593delinsGC p.Leu198Ala Missense 7/7 - 1
16-72094160-C-T c.592C>T p.Leu198Leu Synonymous 7/7 - 1
16-72094162-G-T c.594G>T p.Leu198Leu Synonymous 7/7 - 1
16-72094162-G-A c.594G>A p.Leu198Leu Synonymous 7/7 - 1
16-72094162-G-C c.594G>C p.Leu198Leu Synonymous 7/7 - 1
16-72094163-AC-GA c.595_596delinsGA p.Thr199Asp Missense 7/7 - 1
16-72094163-A-G c.595A>G p.Thr199Ala Missense 7/7 - 4
16-72094166-AC-GA c.598_599delinsGA p.Thr200Glu Missense 7/7 - 1
16-72094166-A-G c.598A>G p.Thr200Ala Missense 7/7 - 1
16-72094167-CG-TC c.599_600delinsTC p.Thr200Ile Missense 7/7 - 1
16-72094169-G-T c.601G>T p.Ala201Ser Missense 7/7 - 1
16-72094173-AA-GC c.605_606delinsGC p.Lys202Ser Missense 7/7 - 1
16-72094175-AAT-GAG c.607_609delinsGAG p.Asn203Glu Missense 7/7 - 1
16-72094176-A-C c.608A>C p.Asn203Thr Missense 7/7 - 1
16-72094183-C-G c.615C>G p.Phe205Leu Missense 7/7 - 1
16-72094183-C-A c.615C>A p.Phe205Leu Missense 7/7 - 1
16-72094181-TT-GC c.613_614delinsGC p.Phe205Ala Missense 7/7 - 1
16-72094181-T-G c.613T>G p.Phe205Val Missense 7/7 - 1
16-72094181-T-C c.613T>C p.Phe205Leu Missense 7/7 - 1
16-72094182-T-C c.614T>C p.Phe205Ser Missense 7/7 - 2
16-72094184-CTG-GAC c.616_618delinsGAC p.Leu206Asp Missense 7/7 - 2
16-72094184-CT-TG c.616_617delinsTG p.Leu206Trp Missense 7/7 - 3
16-72094189-C-T c.621C>T p.Asn207Asn Synonymous 7/7 - 1
16-72094190-CA-GC c.622_623delinsGC p.His208Ala Missense 7/7 - 1
16-72094197-A-C c.629A>C p.Glu210Ala Missense 7/7 - 2
16-72094202-GCA-TTT c.634_636delinsTTT p.Ala212Phe Missense 7/7 - 1
16-72094202-GC-AT c.634_635delinsAT p.Ala212Ile Missense 7/7 - 1
16-72094202-GC-CT c.634_635delinsCT p.Ala212Leu Missense 7/7 - 1
16-72094202-GCA-AAC c.634_636delinsAAC p.Ala212Asn Missense 7/7 - 1
16-72094203-C-T c.635C>T p.Ala212Val Missense 7/7 - 1
16-72094203-C-G c.635C>G p.Ala212Gly Missense 7/7 - 1
16-72094205-A-G c.637A>G p.Thr213Ala Missense 7/7 - 1
16-72094206-C-T c.638C>T p.Thr213Ile Missense 7/7 - 1
16-72094211-AAA-TGT c.643_645delinsTGT p.Lys215Cys Missense 7/7 - 1
16-72094211-AA-GC c.643_644delinsGC p.Lys215Ala Missense 7/7 - 2
16-72094211-A-G c.643A>G p.Lys215Glu Missense 7/7 - 1
16-72094214-GAC-AAG c.646_648delinsAAG p.Asp216Lys Missense 7/7 - 1
16-72094217-AT-TG c.649_650delinsTG p.Ile217Cys Missense 7/7 - 2
16-72094223-CC-GA c.655_656delinsGA p.Pro219Asp Missense 7/7 - 1
16-72094226-A-G c.658A>G p.Thr220Ala Missense 7/7 - 2
16-72094226-AC-GA c.658_659delinsGA p.Thr220Asp Missense 7/7 - 1
16-72094229-T-A c.661T>A p.Leu221Ile Missense 7/7 - 1
16-72094229-T-G c.661T>G p.Leu221Val Missense 7/7 - 1
16-72094232-ACA-TGT c.664_666inv p.Thr222Cys Missense 7/7 - 1
16-72094232-A-G c.664A>G p.Thr222Ala Missense 7/7 - 2
16-72094233-C-A c.665C>A p.Thr222Lys Missense 7/7 - 1
16-72094235-CTC-ATG c.667_669delinsATG p.Leu223Met Missense 7/7 - 1
16-72094235-CT-GC c.667_668delinsGC p.Leu223Ala Missense 7/7 - 1
16-72094245-G-C c.677G>C p.Gly226Ala Missense 7/7 - 1
16-72094247-AA-GC c.679_680delinsGC p.Lys227Ala Missense 7/7 - 3
16-72094247-A-C c.679A>C p.Lys227Gln Missense 7/7 - 3
16-72094248-AA-GC c.680_681delinsGC p.Lys227Ser Missense 7/7 - 1
16-72094248-AA-TG c.680_681delinsTG p.Lys227Met Missense 7/7 - 1
16-72094250-A-G c.682A>G p.Lys228Glu Missense 7/7 - 1
16-72094252-G-A c.684G>A p.Lys228Lys Synonymous 7/7 - 1
16-72094256-C-T c.688C>T p.Leu230Phe Missense 7/7 - 1
16-72094256-CT-GC c.688_689delinsGC p.Leu230Ala Missense 7/7 - 2
16-72094259-GTA-TGT c.691_693delinsTGT p.Val231Cys Missense 7/7 - 1
16-72094260-T-C c.692T>C p.Val231Ala Missense 7/7 - 1
16-72094260-T-A c.692T>A p.Val231Glu Missense 7/7 - 1
16-72094262-GA-AT c.694_695delinsAT p.Glu232Met Missense 7/7 - 1
16-72094262-G-A c.694G>A p.Glu232Lys Missense 7/7 - 2
16-72094265-A-C c.697A>C p.Ile233Leu Missense 7/7 - 1
16-72094268-G-C c.700G>C p.Glu234Gln Missense 7/7 - 1
16-72094269-A-G c.701A>G p.Glu234Gly Missense 7/7 - 1
16-72094269-A-C c.701A>C p.Glu234Ala Missense 7/7 - 2
16-72094270-G-C c.702G>C p.Glu234Asp Missense 7/7 - 1
16-72094270-G-T c.702G>T p.Glu234Asp Missense 7/7 - 1
16-72094281-T-G c.713T>G p.Leu238Arg Missense 7/7 - 1
16-72094283-CA-GC c.715_716delinsGC p.His239Ala Missense 7/7 - 2
16-72094286-C-A c.718C>A p.Pro240Thr Missense 7/7 - 1
16-72094289-A-ATGAT c.721_722insTGAT p.Asn241Metfs*20 Frameshift 7/7 - 1
16-72094289-AA-GC c.721_722delinsGC p.Asn241Ala Missense 7/7 - 2
16-72094291-AC-A c.723del p.Tyr242Thrfs*4 Frameshift 7/7 - 1
16-72094292-TA-GC c.724_725delinsGC p.Tyr242Ala Missense 7/7 - 1
16-72094295-T-C c.727T>C p.Ser243Pro Missense 7/7 - 1
16-72094295-TC-AA c.727_728delinsAA p.Ser243Asn Missense 7/7 - 1
16-72094302-T-A c.734T>A p.Val245Glu Missense 7/7 - 1
16-72094304-G-A c.736G>A p.Asp246Asn Missense 7/7 - 2
16-72094305-A-T c.737A>T p.Asp246Val Missense 7/7 - 2
16-72094309-T-TA c.741_742insA p.Gly248Argfs*12 Frameshift 7/7 - 1
16-72094310-G-A c.742G>A p.Gly248Arg Missense 7/7 - 1
16-72094310-G-C c.742G>C p.Gly248Arg Missense 7/7 - 1
16-72094310-G-T c.742G>T p.Gly248Trp Missense 7/7 - 1
16-72094316-A-C c.748A>C p.Ile250Leu Missense 7/7 - 1
16-72094317-T-C c.749T>C p.Ile250Thr Missense 7/7 - 1
16-72094318-C-G c.750C>G p.Ile250Met Missense 7/7 - 1
16-72094319-AA-GC c.751_752delinsGC p.Lys251Ala Missense 7/7 - 2
16-72094320-A-T c.752A>T p.Lys251Ile Missense 7/7 - 1
16-72094320-A-G c.752A>G p.Lys251Arg Missense 7/7 - 1
16-72094322-C-G c.754C>G p.Leu252Val Missense 7/7 - 1
16-72094325-AA-GC c.757_758delinsGC p.Lys253Ala Missense 7/7 - 2
16-72094327-A-T c.759A>T p.Lys253Asn Missense 7/7 - 1
16-72094327-A-C c.759A>C p.Lys253Asn Missense 7/7 - 1
16-72094331-A-G c.763A>G p.Lys255Glu Missense 7/7 - 2
16-72094331-AA-GG c.763_764delinsGG p.Lys255Gly Missense 7/7 - 1
16-72094331-AA-GC c.763_764delinsGC p.Lys255Ala Missense 7/7 - 1
16-72094334-GTG-TGT c.766_768delinsTGT p.Val256Cys Missense 7/7 - 1
16-72094334-G-GGATT c.766_767insGATT p.Val256Glyfs*5 Frameshift 7/7 - 1
16-72094337-TC-GG c.769_770delinsGG p.Ser257Gly Missense 7/7 - 1
16-72094337-T-G c.769T>G p.Ser257Ala Missense 7/7 - 2
16-72094338-CT-GG c.770_771delinsGG p.Ser257Trp Missense 7/7 - 1
16-72094343-AA-GC c.775_776delinsGC p.Asn259Ala Missense 7/7 - 1
16-72094343-AA-TG c.775_776delinsTG p.Asn259Cys Missense 7/7 - 1
16-72094346-G-A c.778G>A p.Glu260Lys Missense 7/7 - 1
16-72094347-A-C c.779A>C p.Glu260Ala Missense 7/7 - 2
16-72094348-G-T c.780G>T p.Glu260Asp Missense 7/7 - 1
16-72094348-G-C c.780G>C p.Glu260Asp Missense 7/7 - 1
16-72094349-AG-GC c.781_782delinsGC p.Arg261Ala Missense 7/7 - 2
16-72094361-AT-TG c.793_794delinsTG p.Ile265Cys Missense 7/7 - 1
16-72094365-G-C c.797G>C p.Cys266Ser Missense 7/7 - 6
16-72094364-T-A c.796T>A p.Cys266Ser Missense 7/7 - 6
16-72094364-TG-GC c.796_797delinsGC p.Cys266Ala Missense 7/7 - 1
16-72094365-G-T c.797G>T p.Cys266Phe Missense 7/7 - 1
16-72094367-CTA-TTT c.799_801delinsTTT p.Leu267Phe Missense 7/7 - 1
16-72094367-CTA-TGT c.799_801delinsTGT p.Leu267Cys Missense 7/7 - 1
16-72094376-A-G c.808A>G p.Lys270Glu Missense 7/7 - 1
16-72094376-AA-TG c.808_809delinsTG p.Lys270Trp Missense 7/7 - 1
16-72094376-AA-GC c.808_809delinsGC p.Lys270Ala Missense 7/7 - 1
16-72094377-A-T c.809A>T p.Lys270Met Missense 7/7 - 1
16-72094377-AG-GC c.809_810delinsGC p.Lys270Ser Missense 7/7 - 1
16-72094377-A-G c.809A>G p.Lys270Arg Missense 7/7 - 1
16-72094382-T-TTTT c.814_815insTTT p.Asp271_Tyr272insPhe InFrameInsertion 7/7 - 1
16-72094386-C-A c.818C>A p.Ala273Glu Missense 7/7 - 1
16-72094389-A-C c.821A>C p.Glu274Ala Missense 7/7 - 1
16-72094394-G-T c.826G>T p.Gly276Trp Missense 7/7 - 1
16-72094397-CGT-GAG c.829_831delinsGAG p.Arg277Glu Missense 7/7 - 1
16-72094397-CG-GC c.829_830delinsGC p.Arg277Ala Missense 7/7 - 2
16-72094407-A-G c.839A>G p.Tyr280Cys Missense 7/7 - 1
16-72094409-GTT-ATG c.841_843delinsATG p.Val281Met Missense 7/7 - 1
16-72094409-G-A c.841G>A p.Val281Ile Missense 7/7 - 1
16-72094424-CG-AA c.856_857delinsAA p.Arg286Lys Missense 7/7 - 2
16-72094424-CG-GC c.856_857delinsGC p.Arg286Ala Missense 7/7 - 3
16-72094424-CGA-TGT c.856_858delinsTGT p.Arg286Cys Missense 7/7 - 1
16-72094430-G-T c.862G>T p.Ala288Ser Missense 7/7 - 1
16-72094436-T-G c.868T>G p.Phe290Val Missense 7/7 - 1
16-72094436-TT-GC c.868_869delinsGC p.Phe290Ala Missense 7/7 - 1
16-72094442-T-C c.874T>C p.Phe292Leu Missense 7/7 - 1
16-72094444-T-A c.876T>A p.Phe292Leu Missense 7/7 - 1
16-72094444-T-G c.876T>G p.Phe292Leu Missense 7/7 - 1
16-72094443-T-G c.875T>G p.Phe292Cys Missense 7/7 - 1
16-72094445-A-G c.877A>G p.Thr293Ala Missense 7/7 - 2
16-72094447-T-A c.879T>A p.Thr293Thr Synonymous 7/7 - 1
16-72094447-T-G c.879T>G p.Thr293Thr Synonymous 7/7 - 1
16-72094447-T-C c.879T>C p.Thr293Thr Synonymous 7/7 - 1
16-72094452-A-G c.884A>G p.His295Arg Missense 7/7 - 8
16-72094457-A-G c.889A>G p.Lys297Glu Missense 7/7 - 1
16-72094469-CT-TC c.901_902delinsTC p.Leu301Ser Missense 7/7 - 1
16-72094469-CTG-ATC c.901_903delinsATC p.Leu301Ile Missense 7/7 - 1
16-72094469-CT-GC c.901_902delinsGC p.Leu301Ala Missense 7/7 - 1
16-72094475-G-A c.907G>A p.Val303Met Missense 7/7 - 1
16-72094485-A-C c.917A>C p.Gln306Pro Missense 7/7 - 1
16-72094490-CA-GC c.922_923delinsGC p.Gln308Ala Missense 7/7 - 1
16-72094490-CAA-TGT c.922_924delinsTGT p.Gln308Cys Missense 7/7 - 1
16-72094493-TG-GC c.925_926delinsGC p.Cys309Ala Missense 7/7 - 1
16-72094502-C-T c.934C>T p.His312Tyr Missense 7/7 - 1
16-72094505-TAT-GAG c.937_939delinsGAG p.Tyr313Glu Missense 7/7 - 1
16-72094505-TA-GC c.937_938delinsGC p.Tyr313Ala Missense 7/7 - 1
16-72094506-A-T c.938A>T p.Tyr313Phe Missense 7/7 - 2
16-72094508-GAA-TGT c.940_942delinsTGT p.Glu314Cys Missense 7/7 - 1
16-72094509-A-T c.941A>T p.Glu314Val Missense 7/7 - 1
16-72094511-GG-AC c.943_944delinsAC p.Gly315Thr Missense 7/7 - 1
16-72094514-AG-GC c.946_947delinsGC p.Ser316Ala Missense 7/7 - 1
16-72094520-GT-TG c.952_953delinsTG p.Val318Cys Missense 7/7 - 1
16-72094530-A-G c.962A>G p.Lys321Arg Missense 7/7 - 1
16-72094532-AAG-GAC c.964_966delinsGAC p.Lys322Asp Missense 7/7 - 1
16-72094535-GACACCGAAGAGCC-G c.967_979del p.Thr323Leufs*2 Frameshift 7/7 - 1
16-72094536-C-T c.968C>T p.Thr323Ile Missense 7/7 - 1
16-72094541-A-C c.973A>C p.Lys325Gln Missense 7/7 - 1
16-72094550-G-T c.982G>T p.Val328Leu Missense 7/7 - 1
16-72094550-GT-AG c.982_983delinsAG p.Val328Arg Missense 7/7 - 1
16-72094550-G-C c.982G>C p.Val328Leu Missense 7/7 - 1
16-72094550-G-A c.982G>A p.Val328Ile Missense 7/7 - 1
16-72094566-T-A c.998T>A p.Ile333Lys Missense 7/7 - 1
16-72094566-T-C c.998T>C p.Ile333Thr Missense 7/7 - 1
16-72094574-G-A c.1006G>A p.Glu336Lys Missense 7/7 - 1
16-72094574-G-C c.1006G>C p.Glu336Gln Missense 7/7 - 1
16-72094577-CA-GC c.1009_1010delinsGC p.His337Ala Missense 7/7 - 1
16-72094590-GCTG-G c.1022_1024del p.Ala341del InFrameDeletion 7/7 - 1
16-72094592-GGC-TGG c.1024_1026delinsTGG p.Gly342Trp Missense 7/7 - 1
16-72094595-ATG-GAC c.1027_1029delinsGAC p.Met343Asp Missense 7/7 - 1
16-72094599-C-G c.1031C>G p.Ser344Cys Missense 7/7 - 1
16-72094601-AA-GC c.1033_1034delinsGC p.Lys345Ala Missense 7/7 - 1
16-72094605-A-T c.1037A>T p.Tyr346Phe Missense 7/7 - 2
16-72094611-A-C c.1043A>C p.Glu348Ala Missense 7/7 - 1
16-72094613-GA-CG c.1045_1046delinsCG p.Asp349Arg Missense 7/7 - 1
16-72094616-AC-GT c.1048_1049inv p.Thr350Val Missense 7/7 - 1
16-72094619-TG-AT c.1051_1052delinsAT p.Cys351Ile Missense 7/7 - 1
16-72094619-T-G c.1051T>G p.Cys351Gly Missense 7/7 - 1
16-72094619-TG-GC c.1051_1052delinsGC p.Cys351Ala Missense 7/7 - 5
16-72094626-G-T c.1058G>T p.Gly353Val Missense 7/7 - 1
16-72094631-G-T c.1063G>T p.Ala355Ser Missense 7/7 - 1
16-72094643-TT-GC c.1075_1076delinsGC p.Phe359Ala Missense 7/7 - 1
16-72094643-TT-GA c.1075_1076delinsGA p.Phe359Asp Missense 7/7 - 1
16-72094643-T-A c.1075T>A p.Phe359Ile Missense 7/7 - 1
16-72094647-C-T c.1079C>T p.Ala360Val Missense 7/7 - 1
16-72094656-A-C c.1088A>C p.Asp363Ala Missense 7/7 - 1
16-72094658-CT-GC c.1090_1091delinsGC p.Leu364Ala Missense 7/7 - 1
16-72094659-T-G c.1091T>G p.Leu364Arg Missense 7/7 - 1
16-72094667-G-A c.1099G>A p.Asp367Asn Missense 7/7 - 2
16-72094668-A-C c.1100A>C p.Asp367Ala Missense 7/7 - 1
16-72094670-A-G c.1102A>G p.Thr368Ala Missense 7/7 - 2
16-72094685-GGG-TGT c.1117_1119delinsTGT p.Gly373Cys Missense 7/7 - 1
16-72094689-T-G c.1121T>G p.Ile374Ser Missense 7/7 - 1
16-72094694-AGC-GAG c.1126_1128delinsGAG p.Ser376Glu Missense 7/7 - 1
16-72094695-G-C c.1127G>C p.Ser376Thr Missense 7/7 - 4
16-72094696-C-T c.1128C>T p.Ser376Ser Synonymous 7/7 - 1
16-72094700-GA-AC c.1132_1133delinsAC p.Asp378Thr Missense 7/7 - 1
16-72094702-T-A c.1134T>A p.Asp378Glu Missense 7/7 - 1
16-72094702-T-G c.1134T>G p.Asp378Glu Missense 7/7 - 1
16-72094707-G-A c.1139G>A p.Ser380Asn Missense 7/7 - 1
16-72094712-G-A c.1144G>A p.Ala382Thr Missense 7/7 - 1
16-72094718-G-A c.1150G>A p.Ala384Thr Missense 7/7 - 2
16-72094722-A-C c.1154A>C p.Glu385Ala Missense 7/7 - 1
16-72094735-T-C c.1167T>C p.Tyr389Tyr Synonymous 7/7 - 1
16-72094737-T-C c.1169T>C p.Val390Ala Missense 7/7 - 1
16-72094743-T-C c.1175T>C p.Val392Ala Missense 7/7 - 1
16-72094748-TCC-GAG c.1180_1182delinsGAG p.Ser394Glu Missense 7/7 - 1
16-72094757-GA-CG c.1189_1190delinsCG p.Asp397Arg Missense 7/7 - 2
16-72094757-G-A c.1189G>A p.Asp397Asn Missense 7/7 - 1
16-72094776-T-C c.1208T>C p.Ile403Thr Missense 7/7 - 1
16-72094782-A-C c.1214A>C p.Glu405Ala Missense 7/7 - 2