| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.186166899T>A | CA343930479 | HMCN1 | c.15531T>A (p.Cys5177Ter) n.163-4438T>A c.15246T>A (p.Cys5082Ter) c.13554T>A (p.Cys4518Ter) | |
| 1 | g.186166899T>C | CA1295288 | HMCN1 | c.15531T>C (p.Cys5177=) n.163-4438T>C c.15246T>C (p.Cys5082=) c.13554T>C (p.Cys4518=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.186166899T>G | CA343930482 | HMCN1 | c.15531T>G (p.Cys5177Trp) n.163-4438T>G c.15246T>G (p.Cys5082Trp) c.13554T>G (p.Cys4518Trp) | gnomAD v4 |
| 1 | g.186166899T= | CA1140443278 | HMCN1 | c.15531T= (p.Cys5177=) n.163-4438T= c.15246T= (p.Cys5082=) c.13554T= (p.Cys4518=) | |
| 1 | g.186166900G>A | CA343930488 | HMCN1 | c.15532G>A (p.Gly5178Arg) n.163-4437G>A c.15247G>A (p.Gly5083Arg) c.13555G>A (p.Gly4519Arg) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.186166900G>C | CA343930493 | HMCN1 | c.15532G>C (p.Gly5178Arg) n.163-4437G>C c.15247G>C (p.Gly5083Arg) c.13555G>C (p.Gly4519Arg) | |
| 1 | g.186166900G= | CA1213024991 | HMCN1 | c.15532G= (p.Gly5178=) n.163-4437G= c.15247G= (p.Gly5083=) c.13555G= (p.Gly4519=) | |
| 1 | g.186166900G>T | CA343930491 | HMCN1 | c.15532G>T (p.Gly5178Ter) n.163-4437G>T c.15247G>T (p.Gly5083Ter) c.13555G>T (p.Gly4519Ter) | |
| 1 | g.186166901G>A | CA1295289 | HMCN1 | c.15533G>A (p.Gly5178Glu) n.163-4436G>A c.15248G>A (p.Gly5083Glu) c.13556G>A (p.Gly4519Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.186166901G>C | CA343930514 | HMCN1 | c.15533G>C (p.Gly5178Ala) n.163-4436G>C c.15248G>C (p.Gly5083Ala) c.13556G>C (p.Gly4519Ala) | |
| 1 | g.186166901G= | CA1213024992 | HMCN1 | c.15533G= (p.Gly5178=) n.163-4436G= c.15248G= (p.Gly5083=) c.13556G= (p.Gly4519=) | |
| 1 | g.186166901G>T | CA343930517 | HMCN1 | c.15533G>T (p.Gly5178Val) n.163-4436G>T c.15248G>T (p.Gly5083Val) c.13556G>T (p.Gly4519Val) | |
| 1 | g.186166902A>C | CA422333773 | HMCN1 | c.15534A>C (p.Gly5178=) n.163-4435A>C c.15249A>C (p.Gly5083=) c.13557A>C (p.Gly4519=) | |
| 1 | g.186166902A>G | CA422333774 | HMCN1 | c.15534A>G (p.Gly5178=) n.163-4435A>G c.15249A>G (p.Gly5083=) c.13557A>G (p.Gly4519=) | |
| 1 | g.186166902A>T | CA422333775 | HMCN1 | c.15534A>T (p.Gly5178=) n.163-4435A>T c.15249A>T (p.Gly5083=) c.13557A>T (p.Gly4519=) | |
| 1 | g.186166903A>C | CA343930521 | HMCN1 | c.15535A>C (p.Ser5179Arg) n.163-4434A>C c.15250A>C (p.Ser5084Arg) c.13558A>C (p.Ser4520Arg) | |
| 1 | g.186166903A>G | CA343930522 | HMCN1 | c.15535A>G (p.Ser5179Gly) n.163-4434A>G c.15250A>G (p.Ser5084Gly) c.13558A>G (p.Ser4520Gly) | dbSNP |
| 1 | g.186166903A>T | CA343930523 | HMCN1 | c.15535A>T (p.Ser5179Cys) n.163-4434A>T c.15250A>T (p.Ser5084Cys) c.13558A>T (p.Ser4520Cys) | |
| 1 | g.186166904G>A | CA343930524 | HMCN1 | c.15536G>A (p.Ser5179Asn) n.163-4433G>A c.15251G>A (p.Ser5084Asn) c.13559G>A (p.Ser4520Asn) | |
| 1 | g.186166904G>C | CA343930525 | HMCN1 | c.15536G>C (p.Ser5179Thr) n.163-4433G>C c.15251G>C (p.Ser5084Thr) c.13559G>C (p.Ser4520Thr) | |
| 1 | g.186166904G>T | CA343930526 | HMCN1 | c.15536G>T (p.Ser5179Ile) n.163-4433G>T c.15251G>T (p.Ser5084Ile) c.13559G>T (p.Ser4520Ile) | |
| 1 | g.186166905T>A | CA343930529 | HMCN1 | c.15537T>A (p.Ser5179Arg) n.163-4432T>A c.15252T>A (p.Ser5084Arg) c.13560T>A (p.Ser4520Arg) | dbSNP |
| 1 | g.186166905T>C | CA422333781 | HMCN1 | c.15537T>C (p.Ser5179=) n.163-4432T>C c.15252T>C (p.Ser5084=) c.13560T>C (p.Ser4520=) | gnomAD v4 |
| 1 | g.186166905T>G | CA343930531 | HMCN1 | c.15537T>G (p.Ser5179Arg) n.163-4432T>G c.15252T>G (p.Ser5084Arg) c.13560T>G (p.Ser4520Arg) | |
| 1 | g.186166905T= | CA1213024993 | HMCN1 | c.15537T= (p.Ser5179=) n.163-4432T= c.15252T= (p.Ser5084=) c.13560T= (p.Ser4520=) | |
| 1 | g.186166906G>A | CA343930547 | HMCN1 | c.15538G>A (p.Gly5180Ser) n.163-4431G>A c.15253G>A (p.Gly5085Ser) c.13561G>A (p.Gly4521Ser) | dbSNP |
| 1 | g.186166906G>C | CA343930544 | HMCN1 | c.15538G>C (p.Gly5180Arg) n.163-4431G>C c.15253G>C (p.Gly5085Arg) c.13561G>C (p.Gly4521Arg) | |
| 1 | g.186166906G= | CA1213024994 | HMCN1 | c.15538G= (p.Gly5180=) n.163-4431G= c.15253G= (p.Gly5085=) c.13561G= (p.Gly4521=) | |
| 1 | g.186166906G>T | CA343930535 | HMCN1 | c.15538G>T (p.Gly5180Cys) n.163-4431G>T c.15253G>T (p.Gly5085Cys) c.13561G>T (p.Gly4521Cys) | |
| 1 | g.186166907G>A | CA343930550 | HMCN1 | c.15539G>A (p.Gly5180Asp) n.163-4430G>A c.15254G>A (p.Gly5085Asp) c.13562G>A (p.Gly4521Asp) | gnomAD v4 |
| 1 | g.186166907G>C | CA343930553 | HMCN1 | c.15539G>C (p.Gly5180Ala) n.163-4430G>C c.15254G>C (p.Gly5085Ala) c.13562G>C (p.Gly4521Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.186166907G= | CA1213024995 | HMCN1 | c.15539G= (p.Gly5180=) n.163-4430G= c.15254G= (p.Gly5085=) c.13562G= (p.Gly4521=) | |
| 1 | g.186166907G>T | CA343930557 | HMCN1 | c.15539G>T (p.Gly5180Val) n.163-4430G>T c.15254G>T (p.Gly5085Val) c.13562G>T (p.Gly4521Val) | |
| 1 | g.186166908C>A | CA422333785 | HMCN1 | c.15540C>A (p.Gly5180=) n.163-4429C>A c.15255C>A (p.Gly5085=) c.13563C>A (p.Gly4521=) | |
| 1 | g.186166908C= | CA1141664880 | HMCN1 | c.15540C= (p.Gly5180=) n.163-4429C= c.15255C= (p.Gly5085=) c.13563C= (p.Gly4521=) | |
| 1 | g.186166908C>G | CA422333786 | HMCN1 | c.15540C>G (p.Gly5180=) n.163-4429C>G c.15255C>G (p.Gly5085=) c.13563C>G (p.Gly4521=) | |
| 1 | g.186166908C>T | CA33497273 | HMCN1 | c.15540C>T (p.Gly5180=) n.163-4429C>T c.15255C>T (p.Gly5085=) c.13563C>T (p.Gly4521=) | dbSNP gnomAD v4 |
| 1 | g.186166909T>A | CA343930570 | HMCN1 | c.15541T>A (p.Phe5181Ile) n.163-4428T>A c.15256T>A (p.Phe5086Ile) c.13564T>A (p.Phe4522Ile) | |
| 1 | g.186166909T>C | CA1295290 | HMCN1 | c.15541T>C (p.Phe5181Leu) n.163-4428T>C c.15256T>C (p.Phe5086Leu) c.13564T>C (p.Phe4522Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.186166909T>G | CA343930575 | HMCN1 | c.15541T>G (p.Phe5181Val) n.163-4428T>G c.15256T>G (p.Phe5086Val) c.13564T>G (p.Phe4522Val) | COSMIC |
| 1 | g.186166909T= | CA1143755779 | HMCN1 | c.15541T= (p.Phe5181=) n.163-4428T= c.15256T= (p.Phe5086=) c.13564T= (p.Phe4522=) | |
| 1 | g.186166910T>A | CA343930584 | HMCN1 | c.15542T>A (p.Phe5181Tyr) n.163-4427T>A c.15257T>A (p.Phe5086Tyr) c.13565T>A (p.Phe4522Tyr) | |
| 1 | g.186166910T>C | CA343930586 | HMCN1 | c.15542T>C (p.Phe5181Ser) n.163-4427T>C c.15257T>C (p.Phe5086Ser) c.13565T>C (p.Phe4522Ser) | |
| 1 | g.186166910T>G | CA343930587 | HMCN1 | c.15542T>G (p.Phe5181Cys) n.163-4427T>G c.15257T>G (p.Phe5086Cys) c.13565T>G (p.Phe4522Cys) | |
| 1 | g.186166911T>A | CA343930590 | HMCN1 | c.15543T>A (p.Phe5181Leu) n.163-4426T>A c.15258T>A (p.Phe5086Leu) c.13566T>A (p.Phe4522Leu) | |
| 1 | g.186166911T>C | CA422333792 | HMCN1 | c.15543T>C (p.Phe5181=) n.163-4426T>C c.15258T>C (p.Phe5086=) c.13566T>C (p.Phe4522=) | |
| 1 | g.186166911T>G | CA343930592 | HMCN1 | c.15543T>G (p.Phe5181Leu) n.163-4426T>G c.15258T>G (p.Phe5086Leu) c.13566T>G (p.Phe4522Leu) | |
| 1 | g.186166912C>A | CA422333795 | HMCN1 | c.15544C>A (p.Arg5182=) n.163-4425C>A c.15259C>A (p.Arg5087=) c.13567C>A (p.Arg4523=) | |
| 1 | g.186166912C= | CA1213024996 | HMCN1 | c.15544C= (p.Arg5182=) n.163-4425C= c.15259C= (p.Arg5087=) c.13567C= (p.Arg4523=) | |
| 1 | g.186166912C>G | CA343930596 | HMCN1 | c.15544C>G (p.Arg5182Gly) n.163-4425C>G c.15259C>G (p.Arg5087Gly) c.13567C>G (p.Arg4523Gly) | gnomAD v4 |