10 | g.52771454del | CA2609210203 | MBL2 | c.183del (p.Glu61AspfsTer?)
| gnomAD v4 |
10 | g.52771454T>A | CA376539963 | MBL2 | c.182A>T (p.Glu61Val)
| |
10 | g.52771454T>C | CA376539964 | MBL2 | c.182A>G (p.Glu61Gly)
| |
10 | g.52771454T>G | CA376539965 | MBL2 | c.182A>C (p.Glu61Ala)
| |
10 | g.52771455C>A | CA5504421 | MBL2 | c.181G>T (p.Glu61Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.52771455C= | CA1910259310 | MBL2 | c.181G= (p.Glu61=)
| |
10 | g.52771455C>G | CA376539966 | MBL2 | c.181G>C (p.Glu61Gln)
| |
10 | g.52771455C>T | CA5504420 | MBL2 | c.181G>A (p.Glu61Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.52771456C>A | CA469520582 | MBL2 | c.180G>T (p.Gly60=)
| |
10 | g.52771456C>G | CA469520583 | MBL2 | c.180G>C (p.Gly60=)
| |
10 | g.52771456C>T | CA469520581 | MBL2 | c.180G>A (p.Gly60=)
| |
10 | g.52771457C>A | CA376539967 | MBL2 | c.179G>T (p.Gly60Val)
| |
10 | g.52771457C>G | CA376539969 | MBL2 | c.179G>C (p.Gly60Ala)
| |
10 | g.52771457C>T | CA376539968 | MBL2 | c.179G>A (p.Gly60Glu)
| COSMIC |
10 | g.52771458C>A | CA376539970 | MBL2 | c.178G>T (p.Gly60Trp)
| |
10 | g.52771458C>G | CA376539971 | MBL2 | c.178G>C (p.Gly60Arg)
| |
10 | g.52771458C>T | CA376539972 | MBL2 | c.178G>A (p.Gly60Arg)
| gnomAD v4 |
10 | g.52771459C>A | CA376539973 | MBL2 | c.177G>T (p.Lys59Asn)
| |
10 | g.52771459C>G | CA376539974 | MBL2 | c.177G>C (p.Lys59Asn)
| gnomAD v4 |
10 | g.52771459C>T | CA469520585 | MBL2 | c.177G>A (p.Lys59=)
| |
10 | g.52771460T>A | CA376539975 | MBL2 | c.176A>T (p.Lys59Met)
| |
10 | g.52771460T>C | CA376539976 | MBL2 | c.176A>G (p.Lys59Arg)
| gnomAD v4 |
10 | g.52771460T>G | CA376539977 | MBL2 | c.176A>C (p.Lys59Thr)
| |
10 | g.52771461T>A | CA376539978 | MBL2 | c.175A>T (p.Lys59Ter)
| |
10 | g.52771461T>C | CA376539979 | MBL2 | c.175A>G (p.Lys59Glu)
| |
10 | g.52771461T>G | CA376539980 | MBL2 | c.175A>C (p.Lys59Gln)
| |
10 | g.52771462T>A | CA376539981 | MBL2 | c.174A>T (p.Glu58Asp)
| |
10 | g.52771462T>C | CA469520586 | MBL2 | c.174A>G (p.Glu58=)
| |
10 | g.52771462T>G | CA376539982 | MBL2 | c.174A>C (p.Glu58Asp)
| |
10 | g.52771463T>A | CA376539983 | MBL2 | c.173A>T (p.Glu58Val)
| |
10 | g.52771463T>C | CA376539984 | MBL2 | c.173A>G (p.Glu58Gly)
| |
10 | g.52771463T>G | CA376539985 | MBL2 | c.173A>C (p.Glu58Ala)
| gnomAD v4 |
10 | g.52771464C>A | CA376539986 | MBL2 | c.172G>T (p.Glu58Ter)
| |
10 | g.52771464C>G | CA376539987 | MBL2 | c.172G>C (p.Glu58Gln)
| |
10 | g.52771464C>T | CA376539988 | MBL2 | c.172G>A (p.Glu58Lys)
| COSMIC |
10 | g.52771465T>A | CA469520587 | MBL2 | c.171A>T (p.Gly57=)
| |
10 | g.52771465T>C | CA469520588 | MBL2 | c.171A>G (p.Gly57=)
| |
10 | g.52771465T>G | CA469520589 | MBL2 | c.171A>C (p.Gly57=)
| |
10 | g.52771466C>A | CA376539989 | MBL2 | c.170G>T (p.Gly57Val)
| |
10 | g.52771466C= | CA1910259311 | MBL2 | c.170G= (p.Gly57=)
| |
10 | g.52771466C>G | CA376539990 | MBL2 | c.170G>C (p.Gly57Ala)
| gnomAD v4 |
10 | g.52771466C>T | CA123881 | MBL2 | c.170G>A (p.Gly57Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52771467C>A | CA376539991 | MBL2 | c.169G>T (p.Gly57Ter)
| dbSNP |
10 | g.52771467C= | CA1910259312 | MBL2 | c.169G= (p.Gly57=)
| |
10 | g.52771467C>G | CA5504422 | MBL2 | c.169G>C (p.Gly57Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.52771467C>T | CA376539992 | MBL2 | c.169G>A (p.Gly57Arg)
| dbSNP COSMIC |
10 | g.52771468C>A | CA376539994 | MBL2 | c.168G>T (p.Lys56Asn)
| |
10 | g.52771468C= | CA1910259313 | MBL2 | c.168G= (p.Lys56=)
| |
10 | g.52771468C>G | CA376539993 | MBL2 | c.168G>C (p.Lys56Asn)
| gnomAD v4 |
10 | g.52771468C>T | CA5504423 | MBL2 | c.168G>A (p.Lys56=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52771469T>A | CA376539995 | MBL2 | c.167A>T (p.Lys56Met)
| |
10 | g.52771469T>C | CA376539996 | MBL2 | c.167A>G (p.Lys56Arg)
| dbSNP |
10 | g.52771469T>G | CA376539997 | MBL2 | c.167A>C (p.Lys56Thr)
| |
10 | g.52771469T= | CA1910259314 | MBL2 | c.167A= (p.Lys56=)
| |
10 | g.52771470T>A | CA376539998 | MBL2 | c.166A>T (p.Lys56Ter)
| |
10 | g.52771470T>C | CA10628696 | MBL2 | c.166A>G (p.Lys56Glu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.52771470T>G | CA376539999 | MBL2 | c.166A>C (p.Lys56Gln)
| |
10 | g.52771470T= | CA1910259315 | MBL2 | c.166A= (p.Lys56=)
| |
10 | g.52771471G>A | CA469520590 | MBL2 | c.165C>T (p.Thr55=)
| |
10 | g.52771471G>C | CA469520591 | MBL2 | c.165C>G (p.Thr55=)
| |
10 | g.52771471G>T | CA469520592 | MBL2 | c.165C>A (p.Thr55=)
| |
10 | g.52771472G>A | CA376540000 | MBL2 | c.164C>T (p.Thr55Ile)
| dbSNP gnomAD v4 |
10 | g.52771472G>C | CA376540001 | MBL2 | c.164C>G (p.Thr55Ser)
| gnomAD v4 |
10 | g.52771472G= | CA1910259316 | MBL2 | c.164C= (p.Thr55=)
| |
10 | g.52771472G>T | CA376540002 | MBL2 | c.164C>A (p.Thr55Asn)
| |
10 | g.52771473T>A | CA376540003 | MBL2 | c.163A>T (p.Thr55Ser)
| |
10 | g.52771473T>C | CA10635923 | MBL2 | c.163A>G (p.Thr55Ala)
| ClinVar dbSNP gnomAD v2 COSMIC |
10 | g.52771473T>G | CA376540004 | MBL2 | c.163A>C (p.Thr55Pro)
| |
10 | g.52771473T= | CA1910259317 | MBL2 | c.163A= (p.Thr55=)
| |
10 | g.52771474G>A | CA469520593 | MBL2 | c.162C>T (p.Gly54=)
| |
10 | g.52771474G>C | CA469520594 | MBL2 | c.162C>G (p.Gly54=)
| |
10 | g.52771474G>T | CA469520595 | MBL2 | c.162C>A (p.Gly54=)
| |
10 | g.52771475C>A | CA376540005 | MBL2 | c.161G>T (p.Gly54Val)
| |
10 | g.52771475C= | CA1910259318 | MBL2 | c.161G= (p.Gly54=)
| |
10 | g.52771475C>G | CA376540006 | MBL2 | c.161G>C (p.Gly54Ala)
| |
10 | g.52771475C>T | CA123877 | MBL2 | c.161G>A (p.Gly54Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52771476C>A | CA376540009 | MBL2 | c.160G>T (p.Gly54Cys)
| |
10 | g.52771476C>G | CA376540007 | MBL2 | c.160G>C (p.Gly54Arg)
| |
10 | g.52771476C>T | CA376540008 | MBL2 | c.160G>A (p.Gly54Ser)
| |
10 | g.52771477A>C | CA376540010 | MBL2 | c.159T>G (p.Asp53Glu)
| |
10 | g.52771477A>G | CA469520596 | MBL2 | c.159T>C (p.Asp53=)
| gnomAD v4 |
10 | g.52771477A>T | CA376540011 | MBL2 | c.159T>A (p.Asp53Glu)
| |
10 | g.52771478T>A | CA376540012 | MBL2 | c.158A>T (p.Asp53Val)
| |
10 | g.52771478T>C | CA376540013 | MBL2 | c.158A>G (p.Asp53Gly)
| |
10 | g.52771478T>G | CA376540014 | MBL2 | c.158A>C (p.Asp53Ala)
| |
10 | g.52771479del | CA2609210204 | MBL2 | c.157del (p.Asp53MetfsTer?)
| gnomAD v4 |
10 | g.52771479C>A | CA376540015 | MBL2 | c.157G>T (p.Asp53Tyr)
| COSMIC |
10 | g.52771479C>G | CA376540016 | MBL2 | c.157G>C (p.Asp53His)
| |
10 | g.52771479C>T | CA376540017 | MBL2 | c.157G>A (p.Asp53Asn)
| |
10 | g.52771480A>C | CA469520600 | MBL2 | c.156T>G (p.Arg52=)
| |
10 | g.52771480A>G | CA469520599 | MBL2 | c.156T>C (p.Arg52=)
| |
10 | g.52771480A>T | CA469520598 | MBL2 | c.156T>A (p.Arg52=)
| |
10 | g.52771481C>A | CA376540018 | MBL2 | c.155G>T (p.Arg52Leu)
| |
10 | g.52771481C= | CA1910259319 | MBL2 | c.155G= (p.Arg52=)
| |
10 | g.52771481C>G | CA376540019 | MBL2 | c.155G>C (p.Arg52Pro)
| |
10 | g.52771481C>T | CA5504424 | MBL2 | c.155G>A (p.Arg52His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52771482G>A | CA123885 | MBL2 | c.154C>T (p.Arg52Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52771482G>C | CA376540020 | MBL2 | c.154C>G (p.Arg52Gly)
| |
10 | g.52771482G= | CA1910259320 | MBL2 | c.154C= (p.Arg52=)
| |
10 | g.52771482G>T | CA376540021 | MBL2 | c.154C>A (p.Arg52Ser)
| dbSNP gnomAD v4 |
10 | g.52771482_52771483delinsGC | CA1910259321 | MBL2 | c.153_154delinsGC (p.Gly51=)
| |
10 | g.52771483C>A | CA469520603 | MBL2 | c.153G>T (p.Gly51=)
| |
10 | g.52771483C>G | CA469520601 | MBL2 | c.153G>C (p.Gly51=)
| |
10 | g.52771483C>T | CA469520602 | MBL2 | c.153G>A (p.Gly51=)
| |
10 | g.52771485del | CA1910259322 | MBL2 | c.153del (p.Arg52ValfsTer?)
| dbSNP gnomAD v4 |
10 | g.52771484C>A | CA376540022 | MBL2 | c.152G>T (p.Gly51Val)
| |
10 | g.52771484C>G | CA376540023 | MBL2 | c.152G>C (p.Gly51Ala)
| |
10 | g.52771484C>T | CA376540024 | MBL2 | c.152G>A (p.Gly51Glu)
| gnomAD v4 COSMIC |
10 | g.52771485C>A | CA376540025 | MBL2 | c.151G>T (p.Gly51Trp)
| |
10 | g.52771485C= | CA1910259323 | MBL2 | c.151G= (p.Gly51=)
| |
10 | g.52771485C>G | CA376540026 | MBL2 | c.151G>C (p.Gly51Arg)
| |
10 | g.52771485C>T | CA207457369 | MBL2 | c.151G>A (p.Gly51Arg)
| dbSNP gnomAD v3 gnomAD v4 |
10 | g.52771486A= | CA1910259324 | MBL2 | c.150T= (p.Asp50=)
| |
10 | g.52771486A>C | CA376540027 | MBL2 | c.150T>G (p.Asp50Glu)
| |
10 | g.52771486A>G | CA5504425 | MBL2 | c.150T>C (p.Asp50=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.52771486A>T | CA376540028 | MBL2 | c.150T>A (p.Asp50Glu)
| |
10 | g.52771487T>A | CA376540029 | MBL2 | c.149A>T (p.Asp50Val)
| gnomAD v4 |
10 | g.52771487T>C | CA376540030 | MBL2 | c.149A>G (p.Asp50Gly)
| |
10 | g.52771487T>G | CA376540031 | MBL2 | c.149A>C (p.Asp50Ala)
| |
10 | g.52771488C>A | CA376540034 | MBL2 | c.148G>T (p.Asp50Tyr)
| |
10 | g.52771488C>G | CA376540033 | MBL2 | c.148G>C (p.Asp50His)
| |
10 | g.52771488C>T | CA376540032 | MBL2 | c.148G>A (p.Asp50Asn)
| |
10 | g.52771489T>A | CA376540035 | MBL2 | c.147A>T (p.Lys49Asn)
| |
10 | g.52771489T>C | CA469520604 | MBL2 | c.147A>G (p.Lys49=)
| gnomAD v4 |
10 | g.52771489T>G | CA376540036 | MBL2 | c.147A>C (p.Lys49Asn)
| |
10 | g.52771490T>A | CA376540037 | MBL2 | c.146A>T (p.Lys49Ile)
| |
10 | g.52771490T>C | CA376540038 | MBL2 | c.146A>G (p.Lys49Arg)
| |
10 | g.52771490T>G | CA376540039 | MBL2 | c.146A>C (p.Lys49Thr)
| |
10 | g.52771491T>A | CA376540042 | MBL2 | c.145A>T (p.Lys49Ter)
| |
10 | g.52771491T>C | CA376540041 | MBL2 | c.145A>G (p.Lys49Glu)
| |
10 | g.52771491T>G | CA376540040 | MBL2 | c.145A>C (p.Lys49Gln)
| |
10 | g.52771491_52771492insACCCGGTTCGCCCTGCGG | CA2527131312 | MBL2 | c.144_145insCCGCAGGGCGAACCGGGT (p.Gly48_Lys49insProGlnGlyGluProGly)
| |
10 | g.52771491_52771492insACCCGGTTCGCCCTGCGGGCCGGGAATACCCTGCTCACCACGTTCGCCACGCGGGCCAGGCTCACCTTGTTCGCCCTTAGCGCCGGGGGTACCAGGCGTACCAGGTTCGCCCTGCGG | CA2564684123 | MBL2 | c.144_145insCCGCAGGGCGAACCTGGTACGCCTGGTACCCCCGGCGCTAAGGGCGAACAAGGTGAGCCTGGCCCGCGTGGCGAACGTGGTGAGCAGGGTATTCCCGGCCCGCAGGGCGAACCGGGT (p.Gly48_Lys49insProGlnGlyGluProGlyThrProGlyThrProGlyAlaLysGlyGluGlnGlyGluProGlyProArgGlyGluArgGlyGluGlnGlyIleProGlyProGlnGlyGluProGly)
| |
10 | g.52771491_52771492insACCCGGTTCACCCTGCGGGCCGGGAATACCCTGCTCACCACGTTCGCCACGCGGACCAGGCTCACCTTGTTCGCCCTTAGCGCCGGGGGTACCAGGCGTACCAGGTTCACCCTGCGG | CA2537735057 | MBL2 | c.144_145insCCGCAGGGTGAACCTGGTACGCCTGGTACCCCCGGCGCTAAGGGCGAACAAGGTGAGCCTGGTCCGCGTGGCGAACGTGGTGAGCAGGGTATTCCCGGCCCGCAGGGTGAACCGGGT (p.Gly48_Lys49insProGlnGlyGluProGlyThrProGlyThrProGlyAlaLysGlyGluGlnGlyGluProGlyProArgGlyGluArgGlyGluGlnGlyIleProGlyProGlnGlyGluProGly)
| |
10 | g.52771492G>A | CA469520605 | MBL2 | c.144C>T (p.Gly48=)
| dbSNP gnomAD v2 gnomAD v4 |
10 | g.52771492G>C | CA469520606 | MBL2 | c.144C>G (p.Gly48=)
| |
10 | g.52771492G= | CA1910259325 | MBL2 | c.144C= (p.Gly48=)
| |
10 | g.52771492G>T | CA469520607 | MBL2 | c.144C>A (p.Gly48=)
| COSMIC |
10 | g.52771492_52771493delinsGC | CA1910259326 | MBL2 | c.143_144delinsGC (p.Gly48=)
| |
10 | g.52771493C>A | CA376540043 | MBL2 | c.143G>T (p.Gly48Val)
| |
10 | g.52771493C= | CA1910259327 | MBL2 | c.143G= (p.Gly48=)
| |
10 | g.52771493C>G | CA376540044 | MBL2 | c.143G>C (p.Gly48Ala)
| |
10 | g.52771493C>T | CA376540045 | MBL2 | c.143G>A (p.Gly48Asp)
| dbSNP |
10 | g.52771494del | CA666360510 | MBL2 | c.143del (p.Gly48AlafsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
10 | g.52771494C>A | CA376540046 | MBL2 | c.142G>T (p.Gly48Cys)
| |
10 | g.52771494C>G | CA376540047 | MBL2 | c.142G>C (p.Gly48Arg)
| |
10 | g.52771494C>T | CA376540048 | MBL2 | c.142G>A (p.Gly48Ser)
| |
10 | g.52771495del | CA2520754033 | MBL2 | c.141del (p.Gly48AlafsTer?)
| |
10 | g.52771495T>A | CA469520608 | MBL2 | c.141A>T (p.Pro47=)
| |
10 | g.52771495T>C | CA469520609 | MBL2 | c.141A>G (p.Pro47=)
| |
10 | g.52771495T>G | CA469520610 | MBL2 | c.141A>C (p.Pro47=)
| |
10 | g.52771496G>A | CA376540049 | MBL2 | c.140C>T (p.Pro47Leu)
| |
10 | g.52771496G>C | CA376540051 | MBL2 | c.140C>G (p.Pro47Arg)
| dbSNP gnomAD v3 gnomAD v4 |
10 | g.52771496G= | CA1910259328 | MBL2 | c.140C= (p.Pro47=)
| |
10 | g.52771496G>T | CA376540050 | MBL2 | c.140C>A (p.Pro47Gln)
| dbSNP gnomAD v4 |
10 | g.52771497G>A | CA376540052 | MBL2 | c.139C>T (p.Pro47Ser)
| |
10 | g.52771497G>C | CA376540053 | MBL2 | c.139C>G (p.Pro47Ala)
| |
10 | g.52771497G>T | CA376540054 | MBL2 | c.139C>A (p.Pro47Thr)
| COSMIC |
10 | g.52771498G>A | CA5504426 | MBL2 | c.138C>T (p.Phe46=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.52771498G>C | CA376540055 | MBL2 | c.138C>G (p.Phe46Leu)
| |
10 | g.52771498G= | CA1910259329 | MBL2 | c.138C= (p.Phe46=)
| |
10 | g.52771498G>T | CA376540056 | MBL2 | c.138C>A (p.Phe46Leu)
| |
10 | g.52771499A>C | CA376540057 | MBL2 | c.137T>G (p.Phe46Cys)
| |
10 | g.52771499A>G | CA376540058 | MBL2 | c.137T>C (p.Phe46Ser)
| |
10 | g.52771499A>T | CA376540059 | MBL2 | c.137T>A (p.Phe46Tyr)
| |
10 | g.52771500A= | CA1910259330 | MBL2 | c.136T= (p.Phe46=)
| |
10 | g.52771500A>C | CA376540060 | MBL2 | c.136T>G (p.Phe46Val)
| |
10 | g.52771500A>G | CA5504427 | MBL2 | c.136T>C (p.Phe46Leu)
| dbSNP ExAC gnomAD v2 |
10 | g.52771500A>T | CA376540061 | MBL2 | c.136T>A (p.Phe46Ile)
| |
10 | g.52771500_52771501insTACCCT | CA2563960770 | MBL2 | c.135_136insAGGGTA (p.Gly45_Phe46insArgVal)
| |
10 | g.52771501G>A | CA469520613 | MBL2 | c.135C>T (p.Gly45=)
| dbSNP |
10 | g.52771501G>C | CA469520614 | MBL2 | c.135C>G (p.Gly45=)
| |
10 | g.52771501G= | CA1910259331 | MBL2 | c.135C= (p.Gly45=)
| |
10 | g.52771501G>T | CA469520615 | MBL2 | c.135C>A (p.Gly45=)
| |
10 | g.52771502C>A | CA376540063 | MBL2 | c.134G>T (p.Gly45Val)
| |
10 | g.52771502C>G | CA376540064 | MBL2 | c.134G>C (p.Gly45Ala)
| |
10 | g.52771502C>T | CA376540062 | MBL2 | c.134G>A (p.Gly45Asp)
| |
10 | g.52771502_52771503insTCACCACGTTCGCCACGCGGGCCAGGTTCACCACGCGGGCCAGGTGCTCCGGGCACTCCGTTTACACTGAATTCCTGCACGATTTTACGGACC | CA2551880818 | MBL2 | c.134_135insGTCCGTAAAATCGTGCAGGAATTCAGTGTAAACGGAGTGCCCGGAGCACCTGGCCCGCGTGGTGAACCTGGCCCGCGTGGCGAACGTGGTGAG (p.Gly46SerfsTer10)
| |
10 | g.52771503C>A | CA376540065 | MBL2 | c.133G>T (p.Gly45Cys)
| dbSNP gnomAD v4 |
10 | g.52771503C= | CA1910259332 | MBL2 | c.133G= (p.Gly45=)
| |
10 | g.52771503C>G | CA376540066 | MBL2 | c.133G>C (p.Gly45Arg)
| |
10 | g.52771503C>T | CA5504428 | MBL2 | c.133G>A (p.Gly45Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52771503_52771504delinsCG | CA1910259333 | MBL2 | c.132_133delinsCG (p.Asn44=)
| |
10 | g.52771504del | CA5504429 | MBL2 | c.132del (p.Asn44LysfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.52771504G>A | CA5504430 | MBL2 | c.132C>T (p.Asn44=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.52771504G>C | CA376540067 | MBL2 | c.132C>G (p.Asn44Lys)
| |
10 | g.52771504G= | CA1910259334 | MBL2 | c.132C= (p.Asn44=)
| |
10 | g.52771504G>T | CA376540068 | MBL2 | c.132C>A (p.Asn44Lys)
| |
10 | g.52771505T>A | CA376540069 | MBL2 | c.131A>T (p.Asn44Ile)
| |
10 | g.52771505T>C | CA207457370 | MBL2 | c.131A>G (p.Asn44Ser)
| dbSNP |
10 | g.52771505T>G | CA376540070 | MBL2 | c.131A>C (p.Asn44Thr)
| |
10 | g.52771505T= | CA1910259335 | MBL2 | c.131A= (p.Asn44=)
| |
10 | g.52771506T>A | CA376540071 | MBL2 | c.130A>T (p.Asn44Tyr)
| |
10 | g.52771506T>C | CA376540072 | MBL2 | c.130A>G (p.Asn44Asp)
| gnomAD v4 |
10 | g.52771506T>G | CA376540073 | MBL2 | c.130A>C (p.Asn44His)
| |
10 | g.52771507G>A | CA469520617 | MBL2 | c.129C>T (p.Ile43=)
| |
10 | g.52771507G>C | CA376540074 | MBL2 | c.129C>G (p.Ile43Met)
| |
10 | g.52771507G>T | CA469520618 | MBL2 | c.129C>A (p.Ile43=)
| |
10 | g.52771508A>C | CA376540077 | MBL2 | c.128T>G (p.Ile43Ser)
| |
10 | g.52771508A>G | CA376540076 | MBL2 | c.128T>C (p.Ile43Thr)
| |
10 | g.52771508A>T | CA376540075 | MBL2 | c.128T>A (p.Ile43Asn)
| gnomAD v4 |
10 | g.52771509T>A | CA376540078 | MBL2 | c.127A>T (p.Ile43Phe)
| |
10 | g.52771509T>C | CA376540079 | MBL2 | c.127A>G (p.Ile43Val)
| gnomAD v4 |
10 | g.52771509T>G | CA376540080 | MBL2 | c.127A>C (p.Ile43Leu)
| |
10 | g.52771510G>A | CA207457371 | MBL2 | c.126C>T (p.Gly42=)
| dbSNP gnomAD v4 |
10 | g.52771510G>C | CA469520619 | MBL2 | c.126C>G (p.Gly42=)
| |
10 | g.52771510G= | CA1910259336 | MBL2 | c.126C= (p.Gly42=)
| |
10 | g.52771510G>T | CA469520620 | MBL2 | c.126C>A (p.Gly42=)
| |
10 | g.52771512_52771520del | CA2609210205 | MBL2 | c.118_126del (p.Ser40_Gly42del)
| gnomAD v4 |
10 | g.52771511C>A | CA376540081 | MBL2 | c.125G>T (p.Gly42Val)
| |
10 | g.52771511C>G | CA376540082 | MBL2 | c.125G>C (p.Gly42Ala)
| gnomAD v4 |
10 | g.52771511C>T | CA376540083 | MBL2 | c.125G>A (p.Gly42Asp)
| gnomAD v4 |
10 | g.52771512C>A | CA376540084 | MBL2 | c.124G>T (p.Gly42Cys)
| |
10 | g.52771512C>G | CA376540085 | MBL2 | c.124G>C (p.Gly42Arg)
| |
10 | g.52771512C>T | CA376540086 | MBL2 | c.124G>A (p.Gly42Ser)
| |
10 | g.52771513T>A | CA469520623 | MBL2 | c.123A>T (p.Pro41=)
| |
10 | g.52771513T>C | CA469520621 | MBL2 | c.123A>G (p.Pro41=)
| |
10 | g.52771513T>G | CA469520622 | MBL2 | c.123A>C (p.Pro41=)
| |
10 | g.52771514G>A | CA376540087 | MBL2 | c.122C>T (p.Pro41Leu)
| |
10 | g.52771514G>C | CA376540088 | MBL2 | c.122C>G (p.Pro41Arg)
| |
10 | g.52771514G>T | CA376540089 | MBL2 | c.122C>A (p.Pro41Gln)
| |
10 | g.52771515G>A | CA376540090 | MBL2 | c.121C>T (p.Pro41Ser)
| |
10 | g.52771515G>C | CA5504431 | MBL2 | c.121C>G (p.Pro41Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52771515G= | CA1910259337 | MBL2 | c.121C= (p.Pro41=)
| |
10 | g.52771515G>T | CA376540091 | MBL2 | c.121C>A (p.Pro41Thr)
| |
10 | g.52771516A>C | CA469520624 | MBL2 | c.120T>G (p.Ser40=)
| |
10 | g.52771516A>G | CA469520625 | MBL2 | c.120T>C (p.Ser40=)
| gnomAD v4 |
10 | g.52771516A>T | CA469520626 | MBL2 | c.120T>A (p.Ser40=)
| |
10 | g.52771517G>A | CA376540093 | MBL2 | c.119C>T (p.Ser40Phe)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
10 | g.52771517G>C | CA376540094 | MBL2 | c.119C>G (p.Ser40Cys)
| |
10 | g.52771517G= | CA1910259338 | MBL2 | c.119C= (p.Ser40=)
| |
10 | g.52771517G>T | CA376540092 | MBL2 | c.119C>A (p.Ser40Tyr)
| |
10 | g.52771518A= | CA1910259339 | MBL2 | c.118T= (p.Ser40=)
| |
10 | g.52771518A>C | CA5504432 | MBL2 | c.118T>G (p.Ser40Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52771518A>G | CA376540095 | MBL2 | c.118T>C (p.Ser40Pro)
| dbSNP |
10 | g.52771518A>T | CA376540096 | MBL2 | c.118T>A (p.Ser40Thr)
| |
10 | g.52771519G>A | CA5504433 | MBL2 | c.117C>T (p.Ser39=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.52771519G>C | CA376540097 | MBL2 | c.117C>G (p.Ser39Arg)
| |
10 | g.52771519G= | CA1910259340 | MBL2 | c.117C= (p.Ser39=)
| |
10 | g.52771519G>T | CA376540098 | MBL2 | c.117C>A (p.Ser39Arg)
| |
10 | g.52771520C>A | CA376540099 | MBL2 | c.116G>T (p.Ser39Ile)
| |
10 | g.52771520C= | CA1910259341 | MBL2 | c.116G= (p.Ser39=)
| |
10 | g.52771520C>G | CA376540100 | MBL2 | c.116G>C (p.Ser39Thr)
| dbSNP gnomAD v3 gnomAD v4 |
10 | g.52771520C>T | CA5504434 | MBL2 | c.116G>A (p.Ser39Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52771520dup | CA2609210206 | MBL2 | c.116dup (p.Ser39ArgfsTer15)
| gnomAD v4 |
10 | g.52771521T>A | CA376540101 | MBL2 | c.115A>T (p.Ser39Cys)
| |
10 | g.52771521T>C | CA376540102 | MBL2 | c.115A>G (p.Ser39Gly)
| |
10 | g.52771521T>G | CA376540103 | MBL2 | c.115A>C (p.Ser39Arg)
| |
10 | g.52771522A= | CA1910259342 | MBL2 | c.114T= (p.Cys38=)
| |
10 | g.52771522A>C | CA376540105 | MBL2 | c.114T>G (p.Cys38Trp)
| |
10 | g.52771522A>G | CA5504435 | MBL2 | c.114T>C (p.Cys38=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.52771522A>T | CA376540104 | MBL2 | c.114T>A (p.Cys38Ter)
| |
10 | g.52771523C>A | CA376540106 | MBL2 | c.113G>T (p.Cys38Phe)
| |
10 | g.52771523C= | CA1910259343 | MBL2 | c.113G= (p.Cys38=)
| |
10 | g.52771523C>G | CA376540107 | MBL2 | c.113G>C (p.Cys38Ser)
| gnomAD v4 |
10 | g.52771523C>T | CA5504436 | MBL2 | c.113G>A (p.Cys38Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.52771524A>C | CA376540108 | MBL2 | c.112T>G (p.Cys38Gly)
| |
10 | g.52771524A>G | CA376540109 | MBL2 | c.112T>C (p.Cys38Arg)
| |
10 | g.52771524A>T | CA376540110 | MBL2 | c.112T>A (p.Cys38Ser)
| |
10 | g.52771525G>A | CA469520627 | MBL2 | c.111C>T (p.Ala37=)
| |
10 | g.52771525G>C | CA469520628 | MBL2 | c.111C>G (p.Ala37=)
| |
10 | g.52771525G= | CA1910259344 | MBL2 | c.111C= (p.Ala37=)
| |
10 | g.52771525G>T | CA469520629 | MBL2 | c.111C>A (p.Ala37=)
| dbSNP gnomAD v2 gnomAD v4 |
10 | g.52771526G>A | CA376540111 | MBL2 | c.110C>T (p.Ala37Val)
| dbSNP gnomAD v4 |
10 | g.52771526G>C | CA376540113 | MBL2 | c.110C>G (p.Ala37Gly)
| |
10 | g.52771526G= | CA1910259345 | MBL2 | c.110C= (p.Ala37=)
| |
10 | g.52771526G>T | CA376540112 | MBL2 | c.110C>A (p.Ala37Asp)
| |
10 | g.52771527C>A | CA207457372 | MBL2 | c.109G>T (p.Ala37Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.52771527C= | CA1910259346 | MBL2 | c.109G= (p.Ala37=)
| |
10 | g.52771527C>G | CA376540114 | MBL2 | c.109G>C (p.Ala37Pro)
| |
10 | g.52771527C>T | CA376540115 | MBL2 | c.109G>A (p.Ala37Thr)
| |
10 | g.52771528A= | CA1910259347 | MBL2 | c.108T= (p.Ile36=)
| |
10 | g.52771528A>C | CA5504437 | MBL2 | c.108T>G (p.Ile36Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52771528A>G | CA469520631 | MBL2 | c.108T>C (p.Ile36=)
| gnomAD v4 |
10 | g.52771528A>T | CA469520630 | MBL2 | c.108T>A (p.Ile36=)
| |
10 | g.52771529A>C | CA376540118 | MBL2 | c.107T>G (p.Ile36Ser)
| |
10 | g.52771529A>G | CA376540116 | MBL2 | c.107T>C (p.Ile36Thr)
| |
10 | g.52771529A>T | CA376540117 | MBL2 | c.107T>A (p.Ile36Asn)
| |
10 | g.52771530T>A | CA376540119 | MBL2 | c.106A>T (p.Ile36Phe)
| |
10 | g.52771530T>C | CA376540120 | MBL2 | c.106A>G (p.Ile36Val)
| |
10 | g.52771530T>G | CA376540121 | MBL2 | c.106A>C (p.Ile36Leu)
| |
10 | g.52771531C>A | CA469520632 | MBL2 | c.105G>T (p.Val35=)
| |
10 | g.52771531C>G | CA469520633 | MBL2 | c.105G>C (p.Val35=)
| |
10 | g.52771531C>T | CA469520634 | MBL2 | c.105G>A (p.Val35=)
| |
10 | g.52771532A>C | CA376540122 | MBL2 | c.104T>G (p.Val35Gly)
| |
10 | g.52771532A>G | CA376540123 | MBL2 | c.104T>C (p.Val35Ala)
| |
10 | g.52771532A>T | CA376540124 | MBL2 | c.104T>A (p.Val35Glu)
| |
10 | g.52771533C>A | CA376540126 | MBL2 | c.103G>T (p.Val35Leu)
| |
10 | g.52771533C= | CA1910259348 | MBL2 | c.103G= (p.Val35=)
| |
10 | g.52771533C>G | CA376540125 | MBL2 | c.103G>C (p.Val35Leu)
| |
10 | g.52771533C>T | CA5504438 | MBL2 | c.103G>A (p.Val35Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.52771534T>A | CA469520635 | MBL2 | c.102A>T (p.Ala34=)
| |
10 | g.52771534T>C | CA207457373 | MBL2 | c.102A>G (p.Ala34=)
| dbSNP |
10 | g.52771534T>G | CA469520636 | MBL2 | c.102A>C (p.Ala34=)
| |
10 | g.52771534T= | CA1910259349 | MBL2 | c.102A= (p.Ala34=)
| |
10 | g.52771535G>A | CA376540127 | MBL2 | c.101C>T (p.Ala34Val)
| dbSNP gnomAD v2 gnomAD v4 |
10 | g.52771535G>C | CA376540128 | MBL2 | c.101C>G (p.Ala34Gly)
| |
10 | g.52771535G= | CA1910259350 | MBL2 | c.101C= (p.Ala34=)
| |
10 | g.52771535G>T | CA376540129 | MBL2 | c.101C>A (p.Ala34Glu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.52771536C>A | CA5504439 | MBL2 | c.100G>T (p.Ala34Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.52771536C= | CA1910259351 | MBL2 | c.100G= (p.Ala34=)
| |
10 | g.52771536C>G | CA376540130 | MBL2 | c.100G>C (p.Ala34Pro)
| |
10 | g.52771536C>T | CA376540131 | MBL2 | c.100G>A (p.Ala34Thr)
| dbSNP gnomAD v4 |
10 | g.52771537A= | CA1910259352 | MBL2 | c.99T= (p.Pro33=)
| |
10 | g.52771537A>C | CA469520637 | MBL2 | c.99T>G (p.Pro33=)
| ClinVar dbSNP |
10 | g.52771537A>G | CA469520638 | MBL2 | c.99T>C (p.Pro33=)
| |
10 | g.52771537A>T | CA469520639 | MBL2 | c.99T>A (p.Pro33=)
| dbSNP gnomAD v3 gnomAD v4 |
10 | g.52771538G>A | CA376540132 | MBL2 | c.98C>T (p.Pro33Leu)
| dbSNP gnomAD v2 gnomAD v4 |
10 | g.52771538G>C | CA376540134 | MBL2 | c.98C>G (p.Pro33Arg)
| |
10 | g.52771538G= | CA1910259353 | MBL2 | c.98C= (p.Pro33=)
| |
10 | g.52771538G>T | CA376540133 | MBL2 | c.98C>A (p.Pro33His)
| |
10 | g.52771539G>A | CA376540135 | MBL2 | c.97C>T (p.Pro33Ser)
| COSMIC |
10 | g.52771539G>C | CA376540136 | MBL2 | c.97C>G (p.Pro33Ala)
| |
10 | g.52771539G>T | CA376540137 | MBL2 | c.97C>A (p.Pro33Thr)
| |
10 | g.52771540G>A | CA469520640 | MBL2 | c.96C>T (p.Cys32=)
| dbSNP gnomAD v4 |
10 | g.52771540G>C | CA376540138 | MBL2 | c.96C>G (p.Cys32Trp)
| |
10 | g.52771540G= | CA1910259354 | MBL2 | c.96C= (p.Cys32=)
| |
10 | g.52771540G>T | CA376540139 | MBL2 | c.96C>A (p.Cys32Ter)
| |
10 | g.52771541C>A | CA207457374 | MBL2 | c.95G>T (p.Cys32Phe)
| dbSNP gnomAD v4 |
10 | g.52771541C= | CA1910259355 | MBL2 | c.95G= (p.Cys32=)
| |
10 | g.52771541C>G | CA376540140 | MBL2 | c.95G>C (p.Cys32Ser)
| |
10 | g.52771541C>T | CA376540141 | MBL2 | c.95G>A (p.Cys32Tyr)
| |
10 | g.52771542A= | CA1910259356 | MBL2 | c.94T= (p.Cys32=)
| |
10 | g.52771542A>C | CA376540142 | MBL2 | c.94T>G (p.Cys32Gly)
| |
10 | g.52771542A>G | CA5504440 | MBL2 | c.94T>C (p.Cys32Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.52771542A>T | CA376540143 | MBL2 | c.94T>A (p.Cys32Ser)
| gnomAD v4 |
10 | g.52771542_52771543delinsAG | CA1910259357 | MBL2 | c.93_94delinsCT (p.Thr31=)
| |
10 | g.52771543G>A | CA469520641 | MBL2 | c.93C>T (p.Thr31=)
| gnomAD v4 |
10 | g.52771543G>C | CA469520642 | MBL2 | c.93C>G (p.Thr31=)
| |
10 | g.52771543G= | CA1910259358 | MBL2 | c.93C= (p.Thr31=)
| |
10 | g.52771543G>T | CA5504441 | MBL2 | c.93C>A (p.Thr31=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.52771544del | CA1910259359 | MBL2 | c.93del (p.Cys32AlafsTer4)
| dbSNP |
10 | g.52771544G>A | CA376540144 | MBL2 | c.92C>T (p.Thr31Ile)
| dbSNP gnomAD v4 |
10 | g.52771544G>C | CA376540146 | MBL2 | c.92C>G (p.Thr31Ser)
| |
10 | g.52771544G= | CA1910259360 | MBL2 | c.92C= (p.Thr31=)
| |
10 | g.52771544G>T | CA376540145 | MBL2 | c.92C>A (p.Thr31Asn)
| |
10 | g.52771545T>A | CA376540147 | MBL2 | c.91A>T (p.Thr31Ser)
| |
10 | g.52771545T>C | CA376540148 | MBL2 | c.91A>G (p.Thr31Ala)
| |
10 | g.52771545T>G | CA376540149 | MBL2 | c.91A>C (p.Thr31Pro)
| |
10 | g.52771546del | CA2609210207 | MBL2 | c.90del (p.Thr31ProfsTer5)
| gnomAD v4 |
10 | g.52771546C>A | CA376540150 | MBL2 | c.90G>T (p.Lys30Asn)
| |
10 | g.52771546C>G | CA376540151 | MBL2 | c.90G>C (p.Lys30Asn)
| |
10 | g.52771546C>T | CA469520643 | MBL2 | c.90G>A (p.Lys30=)
| gnomAD v4 |
10 | g.52771547T>A | CA376540152 | MBL2 | c.89A>T (p.Lys30Met)
| |
10 | g.52771547T>C | CA376540153 | MBL2 | c.89A>G (p.Lys30Arg)
| |
10 | g.52771547T>G | CA376540154 | MBL2 | c.89A>C (p.Lys30Thr)
| |
10 | g.52771548T>A | CA376540155 | MBL2 | c.88A>T (p.Lys30Ter)
| |
10 | g.52771548T>C | CA376540156 | MBL2 | c.88A>G (p.Lys30Glu)
| |
10 | g.52771548T>G | CA376540157 | MBL2 | c.88A>C (p.Lys30Gln)
| |
10 | g.52771549T>A | CA376540158 | MBL2 | c.87A>T (p.Gln29His)
| |
10 | g.52771549T>C | CA469520644 | MBL2 | c.87A>G (p.Gln29=)
| |
10 | g.52771549T>G | CA376540159 | MBL2 | c.87A>C (p.Gln29His)
| |
10 | g.52771550T>A | CA376540162 | MBL2 | c.86A>T (p.Gln29Leu)
| |
10 | g.52771550T>C | CA376540160 | MBL2 | c.86A>G (p.Gln29Arg)
| dbSNP gnomAD v2 gnomAD v4 |
10 | g.52771550T>G | CA376540161 | MBL2 | c.86A>C (p.Gln29Pro)
| |
10 | g.52771550T= | CA1910259361 | MBL2 | c.86A= (p.Gln29=)
| |
10 | g.52771551G>A | CA376540163 | MBL2 | c.85C>T (p.Gln29Ter)
| |
10 | g.52771551G>C | CA376540164 | MBL2 | c.85C>G (p.Gln29Glu)
| |
10 | g.52771551G>T | CA376540165 | MBL2 | c.85C>A (p.Gln29Lys)
| |
10 | g.52771552G>A | CA469520645 | MBL2 | c.84C>T (p.Ala28=)
| |
10 | g.52771552G>C | CA469520646 | MBL2 | c.84C>G (p.Ala28=)
| |
10 | g.52771552G>T | CA469520647 | MBL2 | c.84C>A (p.Ala28=)
| |
10 | g.52771553G>A | CA207457375 | MBL2 | c.83C>T (p.Ala28Val)
| dbSNP gnomAD v4 |
10 | g.52771553G>C | CA376540166 | MBL2 | c.83C>G (p.Ala28Gly)
| |
10 | g.52771553G= | CA1910259362 | MBL2 | c.83C= (p.Ala28=)
| |
10 | g.52771553G>T | CA376540167 | MBL2 | c.83C>A (p.Ala28Asp)
| |
10 | g.52771554C>A | CA376540168 | MBL2 | c.82G>T (p.Ala28Ser)
| dbSNP gnomAD v3 gnomAD v4 |
10 | g.52771554C= | CA1910259363 | MBL2 | c.82G= (p.Ala28=)
| |
10 | g.52771554C>G | CA376540169 | MBL2 | c.82G>C (p.Ala28Pro)
| |
10 | g.52771554C>T | CA376540170 | MBL2 | c.82G>A (p.Ala28Thr)
| dbSNP gnomAD v3 gnomAD v4 |