UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.52771397A>G | CA2609210188 | MBL2 | c.187+52T>C (n.187+52T>C) | gnomAD v4 |
| 10 | g.52771403C>T | CA2609210189 | MBL2 | c.187+46G>A (n.187+46G>A) | gnomAD v4 |
| 10 | g.52771407G>A | CA2609210190 | MBL2 | c.187+42C>T (n.187+42C>T) | gnomAD v4 |
| 10 | g.52771407G>T | CA2574549840 | MBL2 | c.187+42C>A (n.187+42C>A) | |
| 10 | g.52771412G>A | CA207457365 | MBL2 | c.187+37C>T (n.187+37C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.52771412G= | CA1910259289 | MBL2 | c.187+37C= (n.187+37C=) | |
| 10 | g.52771414A>G | CA2609210191 | MBL2 | c.187+35T>C (n.187+35T>C) | gnomAD v4 |
| 10 | g.52771415A= | CA1910259290 | MBL2 | c.187+34T= (n.187+34T=) | |
| 10 | g.52771415A>C | CA928437406 | MBL2 | c.187+34T>G (n.187+34T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.52771419A>G | CA2574549841 | MBL2 | c.187+30T>C (n.187+30T>C) | |
| 10 | g.52771420T>C | CA5504412 | MBL2 | c.187+29A>G (n.187+29A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.52771420T= | CA1910259291 | MBL2 | c.187+29A= (n.187+29A=) | |
| 10 | g.52771422G>A | CA5504413 | MBL2 | c.187+27C>T (n.187+27C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.52771422G>C | CA593572775 | MBL2 | c.187+27C>G (n.187+27C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.52771422G= | CA1910259292 | MBL2 | c.187+27C= (n.187+27C=) | |
| 10 | g.52771423C>A | CA593572776 | MBL2 | c.187+26G>T (n.187+26G>T) | gnomAD v2 |
| 10 | g.52771423C>T | CA2609210192 | MBL2 | c.187+26G>A (n.187+26G>A) | gnomAD v4 |
| 10 | g.52771423_52771425delinsCAG | CA1910259293 | MBL2 | c.187+24_187+26delinsCTG (n.187+24_187+26delinsCTG) | |
| 10 | g.52771424A>G | CA2609210193 | MBL2 | c.187+25T>C (n.187+25T>C) | gnomAD v4 |
| 10 | g.52771427_52771428del | CA5504414 | MBL2 | c.187+24_187+25del (n.187+24_187+25del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.52771425G>C | CA2609210194 | MBL2 | c.187+24C>G (n.187+24C>G) | gnomAD v4 |
| 10 | g.52771427del | CA2609210195 | MBL2 | c.187+22del (n.187+22del) | gnomAD v4 |
| 10 | g.52771427G>A | CA2574549842 | MBL2 | c.187+22C>T (n.187+22C>T) | |
| 10 | g.52771429del | CA2609210196 | MBL2 | c.187+20del (n.187+20del) | gnomAD v4 |
| 10 | g.52771429C>A | CA593572777 | MBL2 | c.187+20G>T (n.187+20G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.52771429C= | CA1910259294 | MBL2 | c.187+20G= (n.187+20G=) | |
| 10 | g.52771429C>G | CA593572778 | MBL2 | c.187+20G>C (n.187+20G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.52771430A>T | CA2609210197 | MBL2 | c.187+19T>A (n.187+19T>A) | gnomAD v4 |
| 10 | g.52771434C>A | CA2609210198 | MBL2 | c.187+15G>T (n.187+15G>T) | gnomAD v4 |
| 10 | g.52771434C= | CA1910259295 | MBL2 | c.187+15G= (n.187+15G=) | |
| 10 | g.52771434C>G | CA207457366 | MBL2 | c.187+15G>C (n.187+15G>C) | dbSNP gnomAD v4 |
| 10 | g.52771434C>T | CA593572779 | MBL2 | c.187+15G>A (n.187+15G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.52771436G>A | CA593572780 | MBL2 | c.187+13C>T (n.187+13C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.52771436G= | CA1910259296 | MBL2 | c.187+13C= (n.187+13C=) | |
| 10 | g.52771437C>G | CA2574549843 | MBL2 | c.187+12G>C (n.187+12G>C) | |
| 10 | g.52771437C>T | CA2609210199 | MBL2 | c.187+12G>A (n.187+12G>A) | gnomAD v4 |
| 10 | g.52771438C= | CA1910259297 | MBL2 | c.187+11G= (n.187+11G=) | |
| 10 | g.52771438C>G | CA207457367 | MBL2 | c.187+11G>C (n.187+11G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.52771438C>T | CA2609210200 | MBL2 | c.187+11G>A (n.187+11G>A) | gnomAD v4 |
| 10 | g.52771440A= | CA1910259298 | MBL2 | c.187+9T= (n.187+9T=) | |
| 10 | g.52771440A>G | CA1139661446 | MBL2 | c.187+9T>C (n.187+9T>C) | ClinVar dbSNP |
| 10 | g.52771441A= | CA1910259299 | MBL2 | c.187+8T= (n.187+8T=) | |
| 10 | g.52771441A>G | CA5504415 | MBL2 | c.187+8T>C (n.187+8T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.52771442C>A | CA5504416 | MBL2 | c.187+7G>T (n.187+7G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.52771442C= | CA1910259300 | MBL2 | c.187+7G= (n.187+7G=) | |
| 10 | g.52771442C>T | CA2609210201 | MBL2 | c.187+7G>A (n.187+7G>A) | gnomAD v4 |
| 10 | g.52771443A= | CA1910259301 | MBL2 | c.187+6T= (n.187+6T=) | |
| 10 | g.52771443A>G | CA1910259302 | MBL2 | c.187+6T>C (n.187+6T>C) | dbSNP |
| 10 | g.52771444C= | CA1910259303 | MBL2 | c.187+5G= (n.187+5G=) | |
| 10 | g.52771444C>G | CA666360393 | MBL2 | c.187+5G>C (n.187+5G>C) | dbSNP gnomAD v4 |
| 10 | g.52771444C>T | CA5504417 | MBL2 | c.187+5G>A (n.187+5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.52771445G>A | CA5504418 | MBL2 | c.187+4C>T (n.187+4C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.52771445G= | CA1910259304 | MBL2 | c.187+4C= (n.187+4C=) | |
| 10 | g.52771446T>C | CA2609210202 | MBL2 | c.187+3A>G (n.187+3A>G) | gnomAD v4 |
| 10 | g.52771447A= | CA1910259305 | MBL2 | c.187+2T= (n.187+2T=) | |
| 10 | g.52771447A>C | CA376539947 | MBL2 | c.187+2T>G (n.187+2T>G) | |
| 10 | g.52771447A>G | CA376539948 | MBL2 | c.187+2T>C (n.187+2T>C) | |
| 10 | g.52771447A>T | CA376539949 | MBL2 | c.187+2T>A (n.187+2T>A) | dbSNP |
| 10 | g.52771448C>A | CA376539952 | MBL2 | c.187+1G>T (n.187+1G>T) | |
| 10 | g.52771448C>G | CA376539951 | MBL2 | c.187+1G>C (n.187+1G>C) | |
| 10 | g.52771448C>T | CA376539950 | MBL2 | c.187+1G>A (n.187+1G>A) | |
| 10 | g.52771449C>A | CA376539954 | MBL2 | c.187G>T (p.Gly63Cys) | gnomAD v4 |
| 10 | g.52771449C= | CA1910259306 | MBL2 | c.187G= (p.Gly63=) | |
| 10 | g.52771449C>G | CA376539953 | MBL2 | c.187G>C (p.Gly63Arg) | dbSNP |
| 10 | g.52771449C>T | CA376539955 | MBL2 | c.187G>A (p.Gly63Ser) | dbSNP |
| 10 | g.52771450T>A | CA469520578 | MBL2 | c.186A>T (p.Pro62=) | dbSNP |
| 10 | g.52771450T>C | CA469520579 | MBL2 | c.186A>G (p.Pro62=) | |
| 10 | g.52771450T>G | CA5504419 | MBL2 | c.186A>C (p.Pro62=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.52771450T= | CA1910259307 | MBL2 | c.186A= (p.Pro62=) | |
| 10 | g.52771451G>A | CA207457368 | MBL2 | c.185C>T (p.Pro62Leu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.52771451G>C | CA376539956 | MBL2 | c.185C>G (p.Pro62Arg) | dbSNP |
| 10 | g.52771451G= | CA1910259308 | MBL2 | c.185C= (p.Pro62=) | |
| 10 | g.52771451G>T | CA376539957 | MBL2 | c.185C>A (p.Pro62Gln) | |
| 10 | g.52771452G>A | CA376539958 | MBL2 | c.184C>T (p.Pro62Ser) | gnomAD v4 COSMIC |
| 10 | g.52771452G>C | CA376539959 | MBL2 | c.184C>G (p.Pro62Ala) | dbSNP |
| 10 | g.52771452G= | CA1910259309 | MBL2 | c.184C= (p.Pro62=) | |
| 10 | g.52771452G>T | CA376539960 | MBL2 | c.184C>A (p.Pro62Thr) | gnomAD v4 |
| 10 | g.52771453T>A | CA376539961 | MBL2 | c.183A>T (p.Glu61Asp) | gnomAD v4 |
| 10 | g.52771453T>C | CA469520580 | MBL2 | c.183A>G (p.Glu61=) | |
| 10 | g.52771453T>G | CA376539962 | MBL2 | c.183A>C (p.Glu61Asp) | |
| 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 |