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 |
|---|---|---|---|---|---|
| 15 | g.74892646dup | CA715703772 | MPI | c.346-15dup (n.346-15dup) c.196-15dup (n.196-15dup) c.*242-15dup (n.*242-15dup) c.286-15dup (n.286-15dup) c.255+1157dup (n.255+1157dup) n.377-15dup c.331-42dup (n.331-42dup) c.307-15dup (n.307-15dup) c.310-15dup (n.310-15dup) n.455-15dup c.256-15dup (n.256-15dup) c.403-15dup (n.403-15dup) c.334-15dup (n.334-15dup) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74892646del | CA715703774 | MPI | c.346-15del (n.346-15del) c.196-15del (n.196-15del) c.*242-15del (n.*242-15del) c.286-15del (n.286-15del) c.255+1157del (n.255+1157del) n.377-15del c.331-42del (n.331-42del) c.307-15del (n.307-15del) c.310-15del (n.310-15del) n.455-15del c.256-15del (n.256-15del) c.403-15del (n.403-15del) c.334-15del (n.334-15del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74892644C>T | CA2575791677 | MPI | c.346-17C>T (n.346-17C>T) c.196-17C>T (n.196-17C>T) c.*242-17C>T (n.*242-17C>T) c.286-17C>T (n.286-17C>T) c.255+1155C>T (n.255+1155C>T) n.377-17C>T c.331-44C>T (n.331-44C>T) c.307-17C>T (n.307-17C>T) c.310-17C>T (n.310-17C>T) n.455-17C>T c.256-17C>T (n.256-17C>T) c.403-17C>T (n.403-17C>T) c.334-17C>T (n.334-17C>T) | gnomAD v4 |
| 15 | g.74892645C= | CA2187896733 | MPI | c.346-16C= (n.346-16C=) c.196-16C= (n.196-16C=) c.*242-16C= (n.*242-16C=) c.286-16C= (n.286-16C=) c.255+1156C= (n.255+1156C=) n.377-16C= c.331-43C= (n.331-43C=) c.307-16C= (n.307-16C=) c.310-16C= (n.310-16C=) n.455-16C= c.256-16C= (n.256-16C=) c.403-16C= (n.403-16C=) c.334-16C= (n.334-16C=) | |
| 15 | g.74892645C>T | CA7662419 | MPI | c.346-16C>T (n.346-16C>T) c.196-16C>T (n.196-16C>T) c.*242-16C>T (n.*242-16C>T) c.286-16C>T (n.286-16C>T) c.255+1156C>T (n.255+1156C>T) n.377-16C>T c.331-43C>T (n.331-43C>T) c.307-16C>T (n.307-16C>T) c.310-16C>T (n.310-16C>T) n.455-16C>T c.256-16C>T (n.256-16C>T) c.403-16C>T (n.403-16C>T) c.334-16C>T (n.334-16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74892646C= | CA2187896735 | MPI | c.346-15C= (n.346-15C=) c.196-15C= (n.196-15C=) c.*242-15C= (n.*242-15C=) c.286-15C= (n.286-15C=) c.255+1157C= (n.255+1157C=) n.377-15C= c.331-42C= (n.331-42C=) c.307-15C= (n.307-15C=) c.310-15C= (n.310-15C=) n.455-15C= c.256-15C= (n.256-15C=) c.403-15C= (n.403-15C=) c.334-15C= (n.334-15C=) | |
| 15 | g.74892646C>T | CA2187896736 | MPI | c.346-15C>T (n.346-15C>T) c.196-15C>T (n.196-15C>T) c.*242-15C>T (n.*242-15C>T) c.286-15C>T (n.286-15C>T) c.255+1157C>T (n.255+1157C>T) n.377-15C>T c.331-42C>T (n.331-42C>T) c.307-15C>T (n.307-15C>T) c.310-15C>T (n.310-15C>T) n.455-15C>T c.256-15C>T (n.256-15C>T) c.403-15C>T (n.403-15C>T) c.334-15C>T (n.334-15C>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.74892647T>C | CA2629529278 | MPI | c.346-14T>C (n.346-14T>C) c.196-14T>C (n.196-14T>C) c.*242-14T>C (n.*242-14T>C) c.286-14T>C (n.286-14T>C) c.255+1158T>C (n.255+1158T>C) n.377-14T>C c.331-41T>C (n.331-41T>C) c.307-14T>C (n.307-14T>C) c.310-14T>C (n.310-14T>C) n.455-14T>C c.256-14T>C (n.256-14T>C) c.403-14T>C (n.403-14T>C) c.334-14T>C (n.334-14T>C) | gnomAD v4 |
| 15 | g.74892647T>G | CA715703785 | MPI | c.346-14T>G (n.346-14T>G) c.196-14T>G (n.196-14T>G) c.*242-14T>G (n.*242-14T>G) c.286-14T>G (n.286-14T>G) c.255+1158T>G (n.255+1158T>G) n.377-14T>G c.331-41T>G (n.331-41T>G) c.307-14T>G (n.307-14T>G) c.310-14T>G (n.310-14T>G) n.455-14T>G c.256-14T>G (n.256-14T>G) c.403-14T>G (n.403-14T>G) c.334-14T>G (n.334-14T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74892647T= | CA2187896737 | MPI | c.346-14T= (n.346-14T=) c.196-14T= (n.196-14T=) c.*242-14T= (n.*242-14T=) c.286-14T= (n.286-14T=) c.255+1158T= (n.255+1158T=) n.377-14T= c.331-41T= (n.331-41T=) c.307-14T= (n.307-14T=) c.310-14T= (n.310-14T=) n.455-14T= c.256-14T= (n.256-14T=) c.403-14T= (n.403-14T=) c.334-14T= (n.334-14T=) | |
| 15 | g.74892649G>A | CA7662420 | MPI | c.346-12G>A (n.346-12G>A) c.196-12G>A (n.196-12G>A) c.*242-12G>A (n.*242-12G>A) c.286-12G>A (n.286-12G>A) c.255+1160G>A (n.255+1160G>A) n.377-12G>A c.331-39G>A (n.331-39G>A) c.307-12G>A (n.307-12G>A) c.310-12G>A (n.310-12G>A) n.455-12G>A c.256-12G>A (n.256-12G>A) c.403-12G>A (n.403-12G>A) c.334-12G>A (n.334-12G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74892649G= | CA2187896739 | MPI | c.346-12G= (n.346-12G=) c.196-12G= (n.196-12G=) c.*242-12G= (n.*242-12G=) c.286-12G= (n.286-12G=) c.255+1160G= (n.255+1160G=) n.377-12G= c.331-39G= (n.331-39G=) c.307-12G= (n.307-12G=) c.310-12G= (n.310-12G=) n.455-12G= c.256-12G= (n.256-12G=) c.403-12G= (n.403-12G=) c.334-12G= (n.334-12G=) | |
| 15 | g.74892650C>T | CA2629529280 | MPI | c.346-11C>T (n.346-11C>T) c.196-11C>T (n.196-11C>T) c.*242-11C>T (n.*242-11C>T) c.286-11C>T (n.286-11C>T) c.255+1161C>T (n.255+1161C>T) n.377-11C>T c.331-38C>T (n.331-38C>T) c.307-11C>T (n.307-11C>T) c.310-11C>T (n.310-11C>T) n.455-11C>T c.256-11C>T (n.256-11C>T) c.403-11C>T (n.403-11C>T) c.334-11C>T (n.334-11C>T) | gnomAD v4 |
| 15 | g.74892651C= | CA2187896741 | MPI | c.346-10C= (n.346-10C=) c.196-10C= (n.196-10C=) c.*242-10C= (n.*242-10C=) c.286-10C= (n.286-10C=) c.255+1162C= (n.255+1162C=) n.377-10C= c.331-37C= (n.331-37C=) c.307-10C= (n.307-10C=) c.310-10C= (n.310-10C=) n.455-10C= c.256-10C= (n.256-10C=) c.403-10C= (n.403-10C=) c.334-10C= (n.334-10C=) | |
| 15 | g.74892651C>G | CA2187896742 | MPI | c.346-10C>G (n.346-10C>G) c.196-10C>G (n.196-10C>G) c.*242-10C>G (n.*242-10C>G) c.286-10C>G (n.286-10C>G) c.255+1162C>G (n.255+1162C>G) n.377-10C>G c.331-37C>G (n.331-37C>G) c.307-10C>G (n.307-10C>G) c.310-10C>G (n.310-10C>G) n.455-10C>G c.256-10C>G (n.256-10C>G) c.403-10C>G (n.403-10C>G) c.334-10C>G (n.334-10C>G) | ClinVar dbSNP |
| 15 | g.74892651C>T | CA715703791 | MPI | c.346-10C>T (n.346-10C>T) c.196-10C>T (n.196-10C>T) c.*242-10C>T (n.*242-10C>T) c.286-10C>T (n.286-10C>T) c.255+1162C>T (n.255+1162C>T) n.377-10C>T c.331-37C>T (n.331-37C>T) c.307-10C>T (n.307-10C>T) c.310-10C>T (n.310-10C>T) n.455-10C>T c.256-10C>T (n.256-10C>T) c.403-10C>T (n.403-10C>T) c.334-10C>T (n.334-10C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74892653C>A | CA619126214 | MPI | c.346-8C>A (n.346-8C>A) c.196-8C>A (n.196-8C>A) c.*242-8C>A (n.*242-8C>A) c.286-8C>A (n.286-8C>A) c.255+1164C>A (n.255+1164C>A) n.377-8C>A c.331-35C>A (n.331-35C>A) c.307-8C>A (n.307-8C>A) c.310-8C>A (n.310-8C>A) n.455-8C>A c.256-8C>A (n.256-8C>A) c.403-8C>A (n.403-8C>A) c.334-8C>A (n.334-8C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74892653C= | CA2187896743 | MPI | c.346-8C= (n.346-8C=) c.196-8C= (n.196-8C=) c.*242-8C= (n.*242-8C=) c.286-8C= (n.286-8C=) c.255+1164C= (n.255+1164C=) n.377-8C= c.331-35C= (n.331-35C=) c.307-8C= (n.307-8C=) c.310-8C= (n.310-8C=) n.455-8C= c.256-8C= (n.256-8C=) c.403-8C= (n.403-8C=) c.334-8C= (n.334-8C=) | |
| 15 | g.74892653C>T | CA272823065 | MPI | c.346-8C>T (n.346-8C>T) c.196-8C>T (n.196-8C>T) c.*242-8C>T (n.*242-8C>T) c.286-8C>T (n.286-8C>T) c.255+1164C>T (n.255+1164C>T) n.377-8C>T c.331-35C>T (n.331-35C>T) c.307-8C>T (n.307-8C>T) c.310-8C>T (n.310-8C>T) n.455-8C>T c.256-8C>T (n.256-8C>T) c.403-8C>T (n.403-8C>T) c.334-8C>T (n.334-8C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74892654C= | CA2187896745 | MPI | c.346-7C= (n.346-7C=) c.196-7C= (n.196-7C=) c.*242-7C= (n.*242-7C=) c.286-7C= (n.286-7C=) c.255+1165C= (n.255+1165C=) n.377-7C= c.331-34C= (n.331-34C=) c.307-7C= (n.307-7C=) c.310-7C= (n.310-7C=) n.455-7C= c.256-7C= (n.256-7C=) c.403-7C= (n.403-7C=) c.334-7C= (n.334-7C=) | |
| 15 | g.74892654C>T | CA7662421 | MPI | c.346-7C>T (n.346-7C>T) c.196-7C>T (n.196-7C>T) c.*242-7C>T (n.*242-7C>T) c.286-7C>T (n.286-7C>T) c.255+1165C>T (n.255+1165C>T) n.377-7C>T c.331-34C>T (n.331-34C>T) c.307-7C>T (n.307-7C>T) c.310-7C>T (n.310-7C>T) n.455-7C>T c.256-7C>T (n.256-7C>T) c.403-7C>T (n.403-7C>T) c.334-7C>T (n.334-7C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74892656C>T | CA2739269586 | MPI | c.346-5C>T (n.346-5C>T) c.196-5C>T (n.196-5C>T) c.*242-5C>T (n.*242-5C>T) c.286-5C>T (n.286-5C>T) c.255+1167C>T (n.255+1167C>T) n.377-5C>T c.331-32C>T (n.331-32C>T) c.307-5C>T (n.307-5C>T) c.310-5C>T (n.310-5C>T) n.455-5C>T c.256-5C>T (n.256-5C>T) c.403-5C>T (n.403-5C>T) c.334-5C>T (n.334-5C>T) | ClinVar |
| 15 | g.74892657A>C | CA2629529286 | MPI | c.346-4A>C (n.346-4A>C) c.196-4A>C (n.196-4A>C) c.*242-4A>C (n.*242-4A>C) c.286-4A>C (n.286-4A>C) c.255+1168A>C (n.255+1168A>C) n.377-4A>C c.331-31A>C (n.331-31A>C) c.307-4A>C (n.307-4A>C) c.310-4A>C (n.310-4A>C) n.455-4A>C c.256-4A>C (n.256-4A>C) c.403-4A>C (n.403-4A>C) c.334-4A>C (n.334-4A>C) | gnomAD v4 |
| 15 | g.74892658C= | CA2187896747 | MPI | c.346-3C= (n.346-3C=) c.196-3C= (n.196-3C=) c.*242-3C= (n.*242-3C=) c.286-3C= (n.286-3C=) c.255+1169C= (n.255+1169C=) n.377-3C= c.331-30C= (n.331-30C=) c.307-3C= (n.307-3C=) c.310-3C= (n.310-3C=) n.455-3C= c.256-3C= (n.256-3C=) c.403-3C= (n.403-3C=) c.334-3C= (n.334-3C=) | |
| 15 | g.74892658C>T | CA619126219 | MPI | c.346-3C>T (n.346-3C>T) c.196-3C>T (n.196-3C>T) c.*242-3C>T (n.*242-3C>T) c.286-3C>T (n.286-3C>T) c.255+1169C>T (n.255+1169C>T) n.377-3C>T c.331-30C>T (n.331-30C>T) c.307-3C>T (n.307-3C>T) c.310-3C>T (n.310-3C>T) n.455-3C>T c.256-3C>T (n.256-3C>T) c.403-3C>T (n.403-3C>T) c.334-3C>T (n.334-3C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74892659A= | CA2187896749 | MPI | c.346-2A= (n.346-2A=) c.196-2A= (n.196-2A=) c.*242-2A= (n.*242-2A=) c.286-2A= (n.286-2A=) c.255+1170A= (n.255+1170A=) n.377-2A= c.331-29A= (n.331-29A=) c.307-2A= (n.307-2A=) c.310-2A= (n.310-2A=) n.455-2A= c.256-2A= (n.256-2A=) c.403-2A= (n.403-2A=) c.334-2A= (n.334-2A=) | |
| 15 | g.74892659A>C | CA393173317 | MPI | c.346-2A>C (n.346-2A>C) c.196-2A>C (n.196-2A>C) c.*242-2A>C (n.*242-2A>C) c.286-2A>C (n.286-2A>C) c.255+1170A>C (n.255+1170A>C) n.377-2A>C c.331-29A>C (n.331-29A>C) c.307-2A>C (n.307-2A>C) c.310-2A>C (n.310-2A>C) n.455-2A>C c.256-2A>C (n.256-2A>C) c.403-2A>C (n.403-2A>C) c.334-2A>C (n.334-2A>C) | |
| 15 | g.74892659A>G | CA393173318 | MPI | c.346-2A>G (n.346-2A>G) c.196-2A>G (n.196-2A>G) c.*242-2A>G (n.*242-2A>G) c.286-2A>G (n.286-2A>G) c.255+1170A>G (n.255+1170A>G) n.377-2A>G c.331-29A>G (n.331-29A>G) c.307-2A>G (n.307-2A>G) c.310-2A>G (n.310-2A>G) n.455-2A>G c.256-2A>G (n.256-2A>G) c.403-2A>G (n.403-2A>G) c.334-2A>G (n.334-2A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74892659A>T | CA393173319 | MPI | c.346-2A>T (n.346-2A>T) c.196-2A>T (n.196-2A>T) c.*242-2A>T (n.*242-2A>T) c.286-2A>T (n.286-2A>T) c.255+1170A>T (n.255+1170A>T) n.377-2A>T c.331-29A>T (n.331-29A>T) c.307-2A>T (n.307-2A>T) c.310-2A>T (n.310-2A>T) n.455-2A>T c.256-2A>T (n.256-2A>T) c.403-2A>T (n.403-2A>T) c.334-2A>T (n.334-2A>T) | |
| 15 | g.74892660G>A | CA393173320 | MPI | c.346-1G>A (n.346-1G>A) c.196-1G>A (n.196-1G>A) c.*242-1G>A (n.*242-1G>A) c.286-1G>A (n.286-1G>A) c.255+1171G>A (n.255+1171G>A) n.377-1G>A c.331-28G>A (n.331-28G>A) c.307-1G>A (n.307-1G>A) c.310-1G>A (n.310-1G>A) n.455-1G>A c.256-1G>A (n.256-1G>A) c.403-1G>A (n.403-1G>A) c.334-1G>A (n.334-1G>A) | |
| 15 | g.74892660G>C | CA393173321 | MPI | c.346-1G>C (n.346-1G>C) c.196-1G>C (n.196-1G>C) c.*242-1G>C (n.*242-1G>C) c.286-1G>C (n.286-1G>C) c.255+1171G>C (n.255+1171G>C) n.377-1G>C c.331-28G>C (n.331-28G>C) c.307-1G>C (n.307-1G>C) c.310-1G>C (n.310-1G>C) n.455-1G>C c.256-1G>C (n.256-1G>C) c.403-1G>C (n.403-1G>C) c.334-1G>C (n.334-1G>C) | |
| 15 | g.74892660G>T | CA393173322 | MPI | c.346-1G>T (n.346-1G>T) c.196-1G>T (n.196-1G>T) c.*242-1G>T (n.*242-1G>T) c.286-1G>T (n.286-1G>T) c.255+1171G>T (n.255+1171G>T) n.377-1G>T c.331-28G>T (n.331-28G>T) c.307-1G>T (n.307-1G>T) c.310-1G>T (n.310-1G>T) n.455-1G>T c.256-1G>T (n.256-1G>T) c.403-1G>T (n.403-1G>T) c.334-1G>T (n.334-1G>T) | |
| 15 | g.74892661G>A | CA393173323 | MPI | c.346G>A (p.Glu116Lys) c.196G>A (p.Glu66Lys) c.*242G>A (n.*242G>A) c.286G>A (p.Glu96Lys) c.255+1172G>A (n.255+1172G>A) n.377G>A c.331-27G>A (n.331-27G>A) c.307G>A (p.Glu103Lys) c.310G>A (p.Glu104Lys) n.455G>A c.256G>A (p.Glu86Lys) c.403G>A (p.Glu135Lys) c.334G>A (p.Glu112Lys) | |
| 15 | g.74892661G>C | CA393173324 | MPI | c.346G>C (p.Glu116Gln) c.196G>C (p.Glu66Gln) c.*242G>C (n.*242G>C) c.286G>C (p.Glu96Gln) c.255+1172G>C (n.255+1172G>C) n.377G>C c.331-27G>C (n.331-27G>C) c.307G>C (p.Glu103Gln) c.310G>C (p.Glu104Gln) n.455G>C c.256G>C (p.Glu86Gln) c.403G>C (p.Glu135Gln) c.334G>C (p.Glu112Gln) | |
| 15 | g.74892661G>T | CA393173325 | MPI | c.346G>T (p.Glu116Ter) c.196G>T (p.Glu66Ter) c.*242G>T (n.*242G>T) c.286G>T (p.Glu96Ter) c.255+1172G>T (n.255+1172G>T) n.377G>T c.331-27G>T (n.331-27G>T) c.307G>T (p.Glu103Ter) c.310G>T (p.Glu104Ter) n.455G>T c.256G>T (p.Glu86Ter) c.403G>T (p.Glu135Ter) c.334G>T (p.Glu112Ter) | |
| 15 | g.74892662A>C | CA393173326 | MPI | c.347A>C (p.Glu116Ala) c.197A>C (p.Glu66Ala) c.*243A>C (n.*243A>C) c.287A>C (p.Glu96Ala) c.255+1173A>C (n.255+1173A>C) n.378A>C c.331-26A>C (n.331-26A>C) c.308A>C (p.Glu103Ala) c.311A>C (p.Glu104Ala) n.456A>C c.257A>C (p.Glu86Ala) c.404A>C (p.Glu135Ala) c.335A>C (p.Glu112Ala) | |
| 15 | g.74892662A>G | CA393173328 | MPI | c.347A>G (p.Glu116Gly) c.197A>G (p.Glu66Gly) c.*243A>G (n.*243A>G) c.287A>G (p.Glu96Gly) c.255+1173A>G (n.255+1173A>G) n.378A>G c.331-26A>G (n.331-26A>G) c.308A>G (p.Glu103Gly) c.311A>G (p.Glu104Gly) n.456A>G c.257A>G (p.Glu86Gly) c.404A>G (p.Glu135Gly) c.335A>G (p.Glu112Gly) | |
| 15 | g.74892662A>T | CA393173327 | MPI | c.347A>T (p.Glu116Val) c.197A>T (p.Glu66Val) c.*243A>T (n.*243A>T) c.287A>T (p.Glu96Val) c.255+1173A>T (n.255+1173A>T) n.378A>T c.331-26A>T (n.331-26A>T) c.308A>T (p.Glu103Val) c.311A>T (p.Glu104Val) n.456A>T c.257A>T (p.Glu86Val) c.404A>T (p.Glu135Val) c.335A>T (p.Glu112Val) | |
| 15 | g.74892663G>A | CA272823072 | MPI | c.348G>A (p.Glu116=) c.198G>A (p.Glu66=) c.*244G>A (n.*244G>A) c.288G>A (p.Glu96=) c.255+1174G>A (n.255+1174G>A) n.379G>A c.331-25G>A (n.331-25G>A) c.309G>A (p.Glu103=) c.312G>A (p.Glu104=) n.457G>A c.258G>A (p.Glu86=) c.405G>A (p.Glu135=) c.336G>A (p.Glu112=) | dbSNP gnomAD v4 |
| 15 | g.74892663G>C | CA393173329 | MPI | c.348G>C (p.Glu116Asp) c.198G>C (p.Glu66Asp) c.*244G>C (n.*244G>C) c.288G>C (p.Glu96Asp) c.255+1174G>C (n.255+1174G>C) n.379G>C c.331-25G>C (n.331-25G>C) c.309G>C (p.Glu103Asp) c.312G>C (p.Glu104Asp) n.457G>C c.258G>C (p.Glu86Asp) c.405G>C (p.Glu135Asp) c.336G>C (p.Glu112Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74892663G= | CA2187896751 | MPI | c.348G= (p.Glu116=) c.198G= (p.Glu66=) c.*244G= (n.*244G=) c.288G= (p.Glu96=) c.255+1174G= (n.255+1174G=) n.379G= c.331-25G= (n.331-25G=) c.309G= (p.Glu103=) c.312G= (p.Glu104=) n.457G= c.258G= (p.Glu86=) c.405G= (p.Glu135=) c.336G= (p.Glu112=) | |
| 15 | g.74892663G>T | CA393173330 | MPI | c.348G>T (p.Glu116Asp) c.198G>T (p.Glu66Asp) c.*244G>T (n.*244G>T) c.288G>T (p.Glu96Asp) c.255+1174G>T (n.255+1174G>T) n.379G>T c.331-25G>T (n.331-25G>T) c.309G>T (p.Glu103Asp) c.312G>T (p.Glu104Asp) n.457G>T c.258G>T (p.Glu86Asp) c.405G>T (p.Glu135Asp) c.336G>T (p.Glu112Asp) | |
| 15 | g.74892664C>A | CA393173331 | MPI | c.349C>A (p.Leu117Met) c.199C>A (p.Leu67Met) c.*245C>A (n.*245C>A) c.289C>A (p.Leu97Met) c.255+1175C>A (n.255+1175C>A) n.380C>A c.331-24C>A (n.331-24C>A) c.310C>A (p.Leu104Met) c.313C>A (p.Leu105Met) n.458C>A c.259C>A (p.Leu87Met) c.406C>A (p.Leu136Met) c.337C>A (p.Leu113Met) | |
| 15 | g.74892664C= | CA2187896753 | MPI | c.349C= (p.Leu117=) c.199C= (p.Leu67=) c.*245C= (n.*245C=) c.289C= (p.Leu97=) c.255+1175C= (n.255+1175C=) n.380C= c.331-24C= (n.331-24C=) c.310C= (p.Leu104=) c.313C= (p.Leu105=) n.458C= c.259C= (p.Leu87=) c.406C= (p.Leu136=) c.337C= (p.Leu113=) | |
| 15 | g.74892664C>G | CA7662422 | MPI | c.349C>G (p.Leu117Val) c.199C>G (p.Leu67Val) c.*245C>G (n.*245C>G) c.289C>G (p.Leu97Val) c.255+1175C>G (n.255+1175C>G) n.380C>G c.331-24C>G (n.331-24C>G) c.310C>G (p.Leu104Val) c.313C>G (p.Leu105Val) n.458C>G c.259C>G (p.Leu87Val) c.406C>G (p.Leu136Val) c.337C>G (p.Leu113Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74892664C>T | CA272823080 | MPI | c.349C>T (p.Leu117=) c.199C>T (p.Leu67=) c.*245C>T (n.*245C>T) c.289C>T (p.Leu97=) c.255+1175C>T (n.255+1175C>T) n.380C>T c.331-24C>T (n.331-24C>T) c.310C>T (p.Leu104=) c.313C>T (p.Leu105=) n.458C>T c.259C>T (p.Leu87=) c.406C>T (p.Leu136=) c.337C>T (p.Leu113=) | dbSNP |
| 15 | g.74892665T>A | CA393173332 | MPI | c.350T>A (p.Leu117Gln) c.200T>A (p.Leu67Gln) c.*246T>A (n.*246T>A) c.290T>A (p.Leu97Gln) c.255+1176T>A (n.255+1176T>A) n.381T>A c.331-23T>A (n.331-23T>A) c.311T>A (p.Leu104Gln) c.314T>A (p.Leu105Gln) n.459T>A c.260T>A (p.Leu87Gln) c.407T>A (p.Leu136Gln) c.338T>A (p.Leu113Gln) | |
| 15 | g.74892665T>C | CA393173333 | MPI | c.350T>C (p.Leu117Pro) c.200T>C (p.Leu67Pro) c.*246T>C (n.*246T>C) c.290T>C (p.Leu97Pro) c.255+1176T>C (n.255+1176T>C) n.381T>C c.331-23T>C (n.331-23T>C) c.311T>C (p.Leu104Pro) c.314T>C (p.Leu105Pro) n.459T>C c.260T>C (p.Leu87Pro) c.407T>C (p.Leu136Pro) c.338T>C (p.Leu113Pro) | |
| 15 | g.74892665T>G | CA393173334 | MPI | c.350T>G (p.Leu117Arg) c.200T>G (p.Leu67Arg) c.*246T>G (n.*246T>G) c.290T>G (p.Leu97Arg) c.255+1176T>G (n.255+1176T>G) n.381T>G c.331-23T>G (n.331-23T>G) c.311T>G (p.Leu104Arg) c.314T>G (p.Leu105Arg) n.459T>G c.260T>G (p.Leu87Arg) c.407T>G (p.Leu136Arg) c.338T>G (p.Leu113Arg) | |
| 15 | g.74892666G>A | CA491220293 | MPI | c.351G>A (p.Leu117=) c.201G>A (p.Leu67=) c.*247G>A (n.*247G>A) c.291G>A (p.Leu97=) c.255+1177G>A (n.255+1177G>A) n.382G>A c.331-22G>A (n.331-22G>A) c.312G>A (p.Leu104=) c.315G>A (p.Leu105=) n.460G>A c.261G>A (p.Leu87=) c.408G>A (p.Leu136=) c.339G>A (p.Leu113=) | ClinVar |
| 15 | g.74892666G>C | CA491220294 | MPI | c.351G>C (p.Leu117=) c.201G>C (p.Leu67=) c.*247G>C (n.*247G>C) c.291G>C (p.Leu97=) c.255+1177G>C (n.255+1177G>C) n.382G>C c.331-22G>C (n.331-22G>C) c.312G>C (p.Leu104=) c.315G>C (p.Leu105=) n.460G>C c.261G>C (p.Leu87=) c.408G>C (p.Leu136=) c.339G>C (p.Leu113=) | |
| 15 | g.74892666G>T | CA491220292 | MPI | c.351G>T (p.Leu117=) c.201G>T (p.Leu67=) c.*247G>T (n.*247G>T) c.291G>T (p.Leu97=) c.255+1177G>T (n.255+1177G>T) n.382G>T c.331-22G>T (n.331-22G>T) c.312G>T (p.Leu104=) c.315G>T (p.Leu105=) n.460G>T c.261G>T (p.Leu87=) c.408G>T (p.Leu136=) c.339G>T (p.Leu113=) | |
| 15 | g.74892667G>A | CA393173335 | MPI | c.352G>A (p.Ala118Thr) c.202G>A (p.Ala68Thr) c.*248G>A (n.*248G>A) c.292G>A (p.Ala98Thr) c.255+1178G>A (n.255+1178G>A) n.383G>A c.331-21G>A (n.331-21G>A) c.313G>A (p.Ala105Thr) c.316G>A (p.Ala106Thr) n.461G>A c.262G>A (p.Ala88Thr) c.409G>A (p.Ala137Thr) c.340G>A (p.Ala114Thr) | gnomAD v4 |
| 15 | g.74892667G>C | CA393173336 | MPI | c.352G>C (p.Ala118Pro) c.202G>C (p.Ala68Pro) c.*248G>C (n.*248G>C) c.292G>C (p.Ala98Pro) c.255+1178G>C (n.255+1178G>C) n.383G>C c.331-21G>C (n.331-21G>C) c.313G>C (p.Ala105Pro) c.316G>C (p.Ala106Pro) n.461G>C c.262G>C (p.Ala88Pro) c.409G>C (p.Ala137Pro) c.340G>C (p.Ala114Pro) | |
| 15 | g.74892667G>T | CA393173337 | MPI | c.352G>T (p.Ala118Ser) c.202G>T (p.Ala68Ser) c.*248G>T (n.*248G>T) c.292G>T (p.Ala98Ser) c.255+1178G>T (n.255+1178G>T) n.383G>T c.331-21G>T (n.331-21G>T) c.313G>T (p.Ala105Ser) c.316G>T (p.Ala106Ser) n.461G>T c.262G>T (p.Ala88Ser) c.409G>T (p.Ala137Ser) c.340G>T (p.Ala114Ser) | |
| 15 | g.74892668C>A | CA393173338 | MPI | c.353C>A (p.Ala118Glu) c.203C>A (p.Ala68Glu) c.*249C>A (n.*249C>A) c.293C>A (p.Ala98Glu) c.255+1179C>A (n.255+1179C>A) n.384C>A c.331-20C>A (n.331-20C>A) c.314C>A (p.Ala105Glu) c.317C>A (p.Ala106Glu) n.462C>A c.263C>A (p.Ala88Glu) c.410C>A (p.Ala137Glu) c.341C>A (p.Ala114Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74892668C= | CA2187896755 | MPI | c.353C= (p.Ala118=) c.203C= (p.Ala68=) c.*249C= (n.*249C=) c.293C= (p.Ala98=) c.255+1179C= (n.255+1179C=) n.384C= c.331-20C= (n.331-20C=) c.314C= (p.Ala105=) c.317C= (p.Ala106=) n.462C= c.263C= (p.Ala88=) c.410C= (p.Ala137=) c.341C= (p.Ala114=) | |
| 15 | g.74892668C>G | CA393173339 | MPI | c.353C>G (p.Ala118Gly) c.203C>G (p.Ala68Gly) c.*249C>G (n.*249C>G) c.293C>G (p.Ala98Gly) c.255+1179C>G (n.255+1179C>G) n.384C>G c.331-20C>G (n.331-20C>G) c.314C>G (p.Ala105Gly) c.317C>G (p.Ala106Gly) n.462C>G c.263C>G (p.Ala88Gly) c.410C>G (p.Ala137Gly) c.341C>G (p.Ala114Gly) | |
| 15 | g.74892668C>T | CA393173340 | MPI | c.353C>T (p.Ala118Val) c.203C>T (p.Ala68Val) c.*249C>T (n.*249C>T) c.293C>T (p.Ala98Val) c.255+1179C>T (n.255+1179C>T) n.384C>T c.331-20C>T (n.331-20C>T) c.314C>T (p.Ala105Val) c.317C>T (p.Ala106Val) n.462C>T c.263C>T (p.Ala88Val) c.410C>T (p.Ala137Val) c.341C>T (p.Ala114Val) | gnomAD v4 |
| 15 | g.74892669A>C | CA491220298 | MPI | c.354A>C (p.Ala118=) c.204A>C (p.Ala68=) c.*250A>C (n.*250A>C) c.294A>C (p.Ala98=) c.255+1180A>C (n.255+1180A>C) n.385A>C c.331-19A>C (n.331-19A>C) c.315A>C (p.Ala105=) c.318A>C (p.Ala106=) n.463A>C c.264A>C (p.Ala88=) c.411A>C (p.Ala137=) c.342A>C (p.Ala114=) | |
| 15 | g.74892669A>G | CA491220297 | MPI | c.354A>G (p.Ala118=) c.204A>G (p.Ala68=) c.*250A>G (n.*250A>G) c.294A>G (p.Ala98=) c.255+1180A>G (n.255+1180A>G) n.385A>G c.331-19A>G (n.331-19A>G) c.315A>G (p.Ala105=) c.318A>G (p.Ala106=) n.463A>G c.264A>G (p.Ala88=) c.411A>G (p.Ala137=) c.342A>G (p.Ala114=) | |
| 15 | g.74892669A>T | CA491220296 | MPI | c.354A>T (p.Ala118=) c.204A>T (p.Ala68=) c.*250A>T (n.*250A>T) c.294A>T (p.Ala98=) c.255+1180A>T (n.255+1180A>T) n.385A>T c.331-19A>T (n.331-19A>T) c.315A>T (p.Ala105=) c.318A>T (p.Ala106=) n.463A>T c.264A>T (p.Ala88=) c.411A>T (p.Ala137=) c.342A>T (p.Ala114=) | |
| 15 | g.74892670G>A | CA393173341 | MPI | c.355G>A (p.Glu119Lys) c.205G>A (p.Glu69Lys) c.*251G>A (n.*251G>A) c.295G>A (p.Glu99Lys) c.255+1181G>A (n.255+1181G>A) n.386G>A c.331-18G>A (n.331-18G>A) c.316G>A (p.Glu106Lys) c.319G>A (p.Glu107Lys) n.464G>A c.265G>A (p.Glu89Lys) c.412G>A (p.Glu138Lys) c.343G>A (p.Glu115Lys) | dbSNP gnomAD v4 COSMIC |
| 15 | g.74892670G>C | CA393173343 | MPI | c.355G>C (p.Glu119Gln) c.205G>C (p.Glu69Gln) c.*251G>C (n.*251G>C) c.295G>C (p.Glu99Gln) c.255+1181G>C (n.255+1181G>C) n.386G>C c.331-18G>C (n.331-18G>C) c.316G>C (p.Glu106Gln) c.319G>C (p.Glu107Gln) n.464G>C c.265G>C (p.Glu89Gln) c.412G>C (p.Glu138Gln) c.343G>C (p.Glu115Gln) | |
| 15 | g.74892670G= | CA2187896758 | MPI | c.355G= (p.Glu119=) c.205G= (p.Glu69=) c.*251G= (n.*251G=) c.295G= (p.Glu99=) c.255+1181G= (n.255+1181G=) n.386G= c.331-18G= (n.331-18G=) c.316G= (p.Glu106=) c.319G= (p.Glu107=) n.464G= c.265G= (p.Glu89=) c.412G= (p.Glu138=) c.343G= (p.Glu115=) | |
| 15 | g.74892670G>T | CA393173342 | MPI | c.355G>T (p.Glu119Ter) c.205G>T (p.Glu69Ter) c.*251G>T (n.*251G>T) c.295G>T (p.Glu99Ter) c.255+1181G>T (n.255+1181G>T) n.386G>T c.331-18G>T (n.331-18G>T) c.316G>T (p.Glu106Ter) c.319G>T (p.Glu107Ter) n.464G>T c.265G>T (p.Glu89Ter) c.412G>T (p.Glu138Ter) c.343G>T (p.Glu115Ter) | |
| 15 | g.74892671A>C | CA393173344 | MPI | c.356A>C (p.Glu119Ala) c.206A>C (p.Glu69Ala) c.*252A>C (n.*252A>C) c.296A>C (p.Glu99Ala) c.255+1182A>C (n.255+1182A>C) n.387A>C c.331-17A>C (n.331-17A>C) c.317A>C (p.Glu106Ala) c.320A>C (p.Glu107Ala) n.465A>C c.266A>C (p.Glu89Ala) c.413A>C (p.Glu138Ala) c.344A>C (p.Glu115Ala) | |
| 15 | g.74892671A>G | CA393173345 | MPI | c.356A>G (p.Glu119Gly) c.206A>G (p.Glu69Gly) c.*252A>G (n.*252A>G) c.296A>G (p.Glu99Gly) c.255+1182A>G (n.255+1182A>G) n.387A>G c.331-17A>G (n.331-17A>G) c.317A>G (p.Glu106Gly) c.320A>G (p.Glu107Gly) n.465A>G c.266A>G (p.Glu89Gly) c.413A>G (p.Glu138Gly) c.344A>G (p.Glu115Gly) | |
| 15 | g.74892671A>T | CA393173346 | MPI | c.356A>T (p.Glu119Val) c.206A>T (p.Glu69Val) c.*252A>T (n.*252A>T) c.296A>T (p.Glu99Val) c.255+1182A>T (n.255+1182A>T) n.387A>T c.331-17A>T (n.331-17A>T) c.317A>T (p.Glu106Val) c.320A>T (p.Glu107Val) n.465A>T c.266A>T (p.Glu89Val) c.413A>T (p.Glu138Val) c.344A>T (p.Glu115Val) | |
| 15 | g.74892672G>A | CA491220299 | MPI | c.357G>A (p.Glu119=) c.207G>A (p.Glu69=) c.*253G>A (n.*253G>A) c.297G>A (p.Glu99=) c.255+1183G>A (n.255+1183G>A) n.388G>A c.331-16G>A (n.331-16G>A) c.318G>A (p.Glu106=) c.321G>A (p.Glu107=) n.466G>A c.267G>A (p.Glu89=) c.414G>A (p.Glu138=) c.345G>A (p.Glu115=) | |
| 15 | g.74892672G>C | CA393173347 | MPI | c.357G>C (p.Glu119Asp) c.207G>C (p.Glu69Asp) c.*253G>C (n.*253G>C) c.297G>C (p.Glu99Asp) c.255+1183G>C (n.255+1183G>C) n.388G>C c.331-16G>C (n.331-16G>C) c.318G>C (p.Glu106Asp) c.321G>C (p.Glu107Asp) n.466G>C c.267G>C (p.Glu89Asp) c.414G>C (p.Glu138Asp) c.345G>C (p.Glu115Asp) | |
| 15 | g.74892672G>T | CA393173348 | MPI | c.357G>T (p.Glu119Asp) c.207G>T (p.Glu69Asp) c.*253G>T (n.*253G>T) c.297G>T (p.Glu99Asp) c.255+1183G>T (n.255+1183G>T) n.388G>T c.331-16G>T (n.331-16G>T) c.318G>T (p.Glu106Asp) c.321G>T (p.Glu107Asp) n.466G>T c.267G>T (p.Glu89Asp) c.414G>T (p.Glu138Asp) c.345G>T (p.Glu115Asp) | |
| 15 | g.74892673A= | CA2187896760 | MPI | c.358A= (p.Lys120=) c.208A= (p.Lys70=) c.*254A= (n.*254A=) c.298A= (p.Lys100=) c.255+1184A= (n.255+1184A=) n.389A= c.331-15A= (n.331-15A=) c.319A= (p.Lys107=) c.322A= (p.Lys108=) n.467A= c.268A= (p.Lys90=) c.415A= (p.Lys139=) c.346A= (p.Lys116=) | |
| 15 | g.74892673A>C | CA393173349 | MPI | c.358A>C (p.Lys120Gln) c.208A>C (p.Lys70Gln) c.*254A>C (n.*254A>C) c.298A>C (p.Lys100Gln) c.255+1184A>C (n.255+1184A>C) n.389A>C c.331-15A>C (n.331-15A>C) c.319A>C (p.Lys107Gln) c.322A>C (p.Lys108Gln) n.467A>C c.268A>C (p.Lys90Gln) c.415A>C (p.Lys139Gln) c.346A>C (p.Lys116Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74892673A>G | CA393173350 | MPI | c.358A>G (p.Lys120Glu) c.208A>G (p.Lys70Glu) c.*254A>G (n.*254A>G) c.298A>G (p.Lys100Glu) c.255+1184A>G (n.255+1184A>G) n.389A>G c.331-15A>G (n.331-15A>G) c.319A>G (p.Lys107Glu) c.322A>G (p.Lys108Glu) n.467A>G c.268A>G (p.Lys90Glu) c.415A>G (p.Lys139Glu) c.346A>G (p.Lys116Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74892673A>T | CA393173351 | MPI | c.358A>T (p.Lys120Ter) c.208A>T (p.Lys70Ter) c.*254A>T (n.*254A>T) c.298A>T (p.Lys100Ter) c.255+1184A>T (n.255+1184A>T) n.389A>T c.331-15A>T (n.331-15A>T) c.319A>T (p.Lys107Ter) c.322A>T (p.Lys108Ter) n.467A>T c.268A>T (p.Lys90Ter) c.415A>T (p.Lys139Ter) c.346A>T (p.Lys116Ter) | |
| 15 | g.74892674A= | CA2187896762 | MPI | c.359A= (p.Lys120=) c.209A= (p.Lys70=) c.*255A= (n.*255A=) c.299A= (p.Lys100=) c.255+1185A= (n.255+1185A=) n.390A= c.331-14A= (n.331-14A=) c.320A= (p.Lys107=) c.323A= (p.Lys108=) n.468A= c.269A= (p.Lys90=) c.416A= (p.Lys139=) c.347A= (p.Lys116=) | |
| 15 | g.74892674A>C | CA393173352 | MPI | c.359A>C (p.Lys120Thr) c.209A>C (p.Lys70Thr) c.*255A>C (n.*255A>C) c.299A>C (p.Lys100Thr) c.255+1185A>C (n.255+1185A>C) n.390A>C c.331-14A>C (n.331-14A>C) c.320A>C (p.Lys107Thr) c.323A>C (p.Lys108Thr) n.468A>C c.269A>C (p.Lys90Thr) c.416A>C (p.Lys139Thr) c.347A>C (p.Lys116Thr) | |
| 15 | g.74892674A>G | CA393173353 | MPI | c.359A>G (p.Lys120Arg) c.209A>G (p.Lys70Arg) c.*255A>G (n.*255A>G) c.299A>G (p.Lys100Arg) c.255+1185A>G (n.255+1185A>G) n.390A>G c.331-14A>G (n.331-14A>G) c.320A>G (p.Lys107Arg) c.323A>G (p.Lys108Arg) n.468A>G c.269A>G (p.Lys90Arg) c.416A>G (p.Lys139Arg) c.347A>G (p.Lys116Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74892674A>T | CA393173354 | MPI | c.359A>T (p.Lys120Met) c.209A>T (p.Lys70Met) c.*255A>T (n.*255A>T) c.299A>T (p.Lys100Met) c.255+1185A>T (n.255+1185A>T) n.390A>T c.331-14A>T (n.331-14A>T) c.320A>T (p.Lys107Met) c.323A>T (p.Lys108Met) n.468A>T c.269A>T (p.Lys90Met) c.416A>T (p.Lys139Met) c.347A>T (p.Lys116Met) | |
| 15 | g.74892675G>A | CA491220300 | MPI | c.360G>A (p.Lys120=) c.210G>A (p.Lys70=) c.*256G>A (n.*256G>A) c.300G>A (p.Lys100=) c.255+1186G>A (n.255+1186G>A) n.391G>A c.331-13G>A (n.331-13G>A) c.321G>A (p.Lys107=) c.324G>A (p.Lys108=) n.469G>A c.270G>A (p.Lys90=) c.417G>A (p.Lys139=) c.348G>A (p.Lys116=) | ClinVar gnomAD v4 |
| 15 | g.74892675G>C | CA393173356 | MPI | c.360G>C (p.Lys120Asn) c.210G>C (p.Lys70Asn) c.*256G>C (n.*256G>C) c.300G>C (p.Lys100Asn) c.255+1186G>C (n.255+1186G>C) n.391G>C c.331-13G>C (n.331-13G>C) c.321G>C (p.Lys107Asn) c.324G>C (p.Lys108Asn) n.469G>C c.270G>C (p.Lys90Asn) c.417G>C (p.Lys139Asn) c.348G>C (p.Lys116Asn) | |
| 15 | g.74892675G>T | CA393173355 | MPI | c.360G>T (p.Lys120Asn) c.210G>T (p.Lys70Asn) c.*256G>T (n.*256G>T) c.300G>T (p.Lys100Asn) c.255+1186G>T (n.255+1186G>T) n.391G>T c.331-13G>T (n.331-13G>T) c.321G>T (p.Lys107Asn) c.324G>T (p.Lys108Asn) n.469G>T c.270G>T (p.Lys90Asn) c.417G>T (p.Lys139Asn) c.348G>T (p.Lys116Asn) | |
| 15 | g.74892676C>A | CA393173357 | MPI | c.361C>A (p.Leu121Met) c.211C>A (p.Leu71Met) c.*257C>A (n.*257C>A) c.301C>A (p.Leu101Met) c.255+1187C>A (n.255+1187C>A) n.392C>A c.331-12C>A (n.331-12C>A) c.322C>A (p.Leu108Met) c.325C>A (p.Leu109Met) n.470C>A c.271C>A (p.Leu91Met) c.418C>A (p.Leu140Met) c.349C>A (p.Leu117Met) | |
| 15 | g.74892676C= | CA2187896765 | MPI | c.361C= (p.Leu121=) c.211C= (p.Leu71=) c.*257C= (n.*257C=) c.301C= (p.Leu101=) c.255+1187C= (n.255+1187C=) n.392C= c.331-12C= (n.331-12C=) c.322C= (p.Leu108=) c.325C= (p.Leu109=) n.470C= c.271C= (p.Leu91=) c.418C= (p.Leu140=) c.349C= (p.Leu117=) | |
| 15 | g.74892676C>G | CA393173358 | MPI | c.361C>G (p.Leu121Val) c.211C>G (p.Leu71Val) c.*257C>G (n.*257C>G) c.301C>G (p.Leu101Val) c.255+1187C>G (n.255+1187C>G) n.392C>G c.331-12C>G (n.331-12C>G) c.322C>G (p.Leu108Val) c.325C>G (p.Leu109Val) n.470C>G c.271C>G (p.Leu91Val) c.418C>G (p.Leu140Val) c.349C>G (p.Leu117Val) | |
| 15 | g.74892676C>T | CA7662423 | MPI | c.361C>T (p.Leu121=) c.211C>T (p.Leu71=) c.*257C>T (n.*257C>T) c.301C>T (p.Leu101=) c.255+1187C>T (n.255+1187C>T) n.392C>T c.331-12C>T (n.331-12C>T) c.322C>T (p.Leu108=) c.325C>T (p.Leu109=) n.470C>T c.271C>T (p.Leu91=) c.418C>T (p.Leu140=) c.349C>T (p.Leu117=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74892677T>A | CA393173359 | MPI | c.362T>A (p.Leu121Gln) c.212T>A (p.Leu71Gln) c.*258T>A (n.*258T>A) c.302T>A (p.Leu101Gln) c.255+1188T>A (n.255+1188T>A) n.393T>A c.331-11T>A (n.331-11T>A) c.323T>A (p.Leu108Gln) c.326T>A (p.Leu109Gln) n.471T>A c.272T>A (p.Leu91Gln) c.419T>A (p.Leu140Gln) c.350T>A (p.Leu117Gln) | |
| 15 | g.74892677T>C | CA393173361 | MPI | c.362T>C (p.Leu121Pro) c.212T>C (p.Leu71Pro) c.*258T>C (n.*258T>C) c.302T>C (p.Leu101Pro) c.255+1188T>C (n.255+1188T>C) n.393T>C c.331-11T>C (n.331-11T>C) c.323T>C (p.Leu108Pro) c.326T>C (p.Leu109Pro) n.471T>C c.272T>C (p.Leu91Pro) c.419T>C (p.Leu140Pro) c.350T>C (p.Leu117Pro) | ClinVar |
| 15 | g.74892677T>G | CA393173360 | MPI | c.362T>G (p.Leu121Arg) c.212T>G (p.Leu71Arg) c.*258T>G (n.*258T>G) c.302T>G (p.Leu101Arg) c.255+1188T>G (n.255+1188T>G) n.393T>G c.331-11T>G (n.331-11T>G) c.323T>G (p.Leu108Arg) c.326T>G (p.Leu109Arg) n.471T>G c.272T>G (p.Leu91Arg) c.419T>G (p.Leu140Arg) c.350T>G (p.Leu117Arg) | |
| 15 | g.74892677_74892678delinsTG | CA2187896767 | MPI | c.362_363delinsTG (p.Leu121=) c.212_213delinsTG (p.Leu71=) c.*258_*259delinsTG (n.*258_*259delinsTG) c.302_303delinsTG (p.Leu101=) c.255+1188_255+1189delinsTG (n.255+1188_255+1189delinsTG) n.393_394delinsTG c.331-11_331-10delinsTG (n.331-11_331-10delinsTG) c.323_324delinsTG (p.Leu108=) c.326_327delinsTG (p.Leu109=) n.471_472delinsTG c.272_273delinsTG (p.Leu91=) c.419_420delinsTG (p.Leu140=) c.350_351delinsTG (p.Leu117=) | |
| 15 | g.74892678del | CA619126234 | MPI | c.363del (p.His122ThrfsTer?) c.213del (p.His72ThrfsTer?) c.*259del (n.*259del) c.303del (p.His102ThrfsTer?) c.255+1189del (n.255+1189del) n.394del c.331-10del (n.331-10del) c.324del (p.His109ThrfsTer?) c.327del (p.His110ThrfsTer?) n.472del c.273del (p.His92ThrfsTer?) c.420del (p.His141ThrfsTer?) c.351del (p.His118ThrfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74892678G>A | CA272823086 | MPI | c.363G>A (p.Leu121=) c.213G>A (p.Leu71=) c.*259G>A (n.*259G>A) c.303G>A (p.Leu101=) c.255+1189G>A (n.255+1189G>A) n.394G>A c.331-10G>A (n.331-10G>A) c.324G>A (p.Leu108=) c.327G>A (p.Leu109=) n.472G>A c.273G>A (p.Leu91=) c.420G>A (p.Leu140=) c.351G>A (p.Leu117=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.74892678G>C | CA491220302 | MPI | c.363G>C (p.Leu121=) c.213G>C (p.Leu71=) c.*259G>C (n.*259G>C) c.303G>C (p.Leu101=) c.255+1189G>C (n.255+1189G>C) n.394G>C c.331-10G>C (n.331-10G>C) c.324G>C (p.Leu108=) c.327G>C (p.Leu109=) n.472G>C c.273G>C (p.Leu91=) c.420G>C (p.Leu140=) c.351G>C (p.Leu117=) | |
| 15 | g.74892678G= | CA2187896769 | MPI | c.363G= (p.Leu121=) c.213G= (p.Leu71=) c.*259G= (n.*259G=) c.303G= (p.Leu101=) c.255+1189G= (n.255+1189G=) n.394G= c.331-10G= (n.331-10G=) c.324G= (p.Leu108=) c.327G= (p.Leu109=) n.472G= c.273G= (p.Leu91=) c.420G= (p.Leu140=) c.351G= (p.Leu117=) | |
| 15 | g.74892678G>T | CA491220303 | MPI | c.363G>T (p.Leu121=) c.213G>T (p.Leu71=) c.*259G>T (n.*259G>T) c.303G>T (p.Leu101=) c.255+1189G>T (n.255+1189G>T) n.394G>T c.331-10G>T (n.331-10G>T) c.324G>T (p.Leu108=) c.327G>T (p.Leu109=) n.472G>T c.273G>T (p.Leu91=) c.420G>T (p.Leu140=) c.351G>T (p.Leu117=) | |
| 15 | g.74892679C>A | CA393173362 | MPI | c.364C>A (p.His122Asn) c.214C>A (p.His72Asn) c.*260C>A (n.*260C>A) c.304C>A (p.His102Asn) c.255+1190C>A (n.255+1190C>A) n.395C>A c.331-9C>A (n.331-9C>A) c.325C>A (p.His109Asn) c.328C>A (p.His110Asn) n.473C>A c.274C>A (p.His92Asn) c.421C>A (p.His141Asn) c.352C>A (p.His118Asn) | |
| 15 | g.74892679C= | CA2187896772 | MPI | c.364C= (p.His122=) c.214C= (p.His72=) c.*260C= (n.*260C=) c.304C= (p.His102=) c.255+1190C= (n.255+1190C=) n.395C= c.331-9C= (n.331-9C=) c.325C= (p.His109=) c.328C= (p.His110=) n.473C= c.274C= (p.His92=) c.421C= (p.His141=) c.352C= (p.His118=) | |
| 15 | g.74892679C>G | CA393173363 | MPI | c.364C>G (p.His122Asp) c.214C>G (p.His72Asp) c.*260C>G (n.*260C>G) c.304C>G (p.His102Asp) c.255+1190C>G (n.255+1190C>G) n.395C>G c.331-9C>G (n.331-9C>G) c.325C>G (p.His109Asp) c.328C>G (p.His110Asp) n.473C>G c.274C>G (p.His92Asp) c.421C>G (p.His141Asp) c.352C>G (p.His118Asp) | |
| 15 | g.74892679C>T | CA393173364 | MPI | c.364C>T (p.His122Tyr) c.214C>T (p.His72Tyr) c.*260C>T (n.*260C>T) c.304C>T (p.His102Tyr) c.255+1190C>T (n.255+1190C>T) n.395C>T c.331-9C>T (n.331-9C>T) c.325C>T (p.His109Tyr) c.328C>T (p.His110Tyr) n.473C>T c.274C>T (p.His92Tyr) c.421C>T (p.His141Tyr) c.352C>T (p.His118Tyr) | dbSNP gnomAD v4 |
| 15 | g.74892680A= | CA2187896774 | MPI | c.365A= (p.His122=) c.215A= (p.His72=) c.*261A= (n.*261A=) c.305A= (p.His102=) c.255+1191A= (n.255+1191A=) n.396A= c.331-8A= (n.331-8A=) c.326A= (p.His109=) c.329A= (p.His110=) n.474A= c.275A= (p.His92=) c.422A= (p.His141=) c.353A= (p.His118=) | |
| 15 | g.74892680A>C | CA393173365 | MPI | c.365A>C (p.His122Pro) c.215A>C (p.His72Pro) c.*261A>C (n.*261A>C) c.305A>C (p.His102Pro) c.255+1191A>C (n.255+1191A>C) n.396A>C c.331-8A>C (n.331-8A>C) c.326A>C (p.His109Pro) c.329A>C (p.His110Pro) n.474A>C c.275A>C (p.His92Pro) c.422A>C (p.His141Pro) c.353A>C (p.His118Pro) | dbSNP |
| 15 | g.74892680A>G | CA393173366 | MPI | c.365A>G (p.His122Arg) c.215A>G (p.His72Arg) c.*261A>G (n.*261A>G) c.305A>G (p.His102Arg) c.255+1191A>G (n.255+1191A>G) n.396A>G c.331-8A>G (n.331-8A>G) c.326A>G (p.His109Arg) c.329A>G (p.His110Arg) n.474A>G c.275A>G (p.His92Arg) c.422A>G (p.His141Arg) c.353A>G (p.His118Arg) | |
| 15 | g.74892680A>T | CA393173367 | MPI | c.365A>T (p.His122Leu) c.215A>T (p.His72Leu) c.*261A>T (n.*261A>T) c.305A>T (p.His102Leu) c.255+1191A>T (n.255+1191A>T) n.396A>T c.331-8A>T (n.331-8A>T) c.326A>T (p.His109Leu) c.329A>T (p.His110Leu) n.474A>T c.275A>T (p.His92Leu) c.422A>T (p.His141Leu) c.353A>T (p.His118Leu) | |
| 15 | g.74892681C>A | CA393173368 | MPI | c.366C>A (p.His122Gln) c.216C>A (p.His72Gln) c.*262C>A (n.*262C>A) c.306C>A (p.His102Gln) c.255+1192C>A (n.255+1192C>A) n.397C>A c.331-7C>A (n.331-7C>A) c.327C>A (p.His109Gln) c.330C>A (p.His110Gln) n.475C>A c.276C>A (p.His92Gln) c.423C>A (p.His141Gln) c.354C>A (p.His118Gln) | gnomAD v4 |
| 15 | g.74892681C= | CA2187896778 | MPI | c.366C= (p.His122=) c.216C= (p.His72=) c.*262C= (n.*262C=) c.306C= (p.His102=) c.255+1192C= (n.255+1192C=) n.397C= c.331-7C= (n.331-7C=) c.327C= (p.His109=) c.330C= (p.His110=) n.475C= c.276C= (p.His92=) c.423C= (p.His141=) c.354C= (p.His118=) | |
| 15 | g.74892681C>G | CA393173369 | MPI | c.366C>G (p.His122Gln) c.216C>G (p.His72Gln) c.*262C>G (n.*262C>G) c.306C>G (p.His102Gln) c.255+1192C>G (n.255+1192C>G) n.397C>G c.331-7C>G (n.331-7C>G) c.327C>G (p.His109Gln) c.330C>G (p.His110Gln) n.475C>G c.276C>G (p.His92Gln) c.423C>G (p.His141Gln) c.354C>G (p.His118Gln) | |
| 15 | g.74892681C>T | CA491220306 | MPI | c.366C>T (p.His122=) c.216C>T (p.His72=) c.*262C>T (n.*262C>T) c.306C>T (p.His102=) c.255+1192C>T (n.255+1192C>T) n.397C>T c.331-7C>T (n.331-7C>T) c.327C>T (p.His109=) c.330C>T (p.His110=) n.475C>T c.276C>T (p.His92=) c.423C>T (p.His141=) c.354C>T (p.His118=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74892682C>A | CA393173370 | MPI | c.367C>A (p.Leu123Ile) c.217C>A (p.Leu73Ile) c.*263C>A (n.*263C>A) c.307C>A (p.Leu103Ile) c.255+1193C>A (n.255+1193C>A) n.398C>A c.331-6C>A (n.331-6C>A) c.328C>A (p.Leu110Ile) c.331C>A (p.Leu111Ile) n.476C>A c.277C>A (p.Leu93Ile) c.424C>A (p.Leu142Ile) c.355C>A (p.Leu119Ile) | |
| 15 | g.74892682C>G | CA393173371 | MPI | c.367C>G (p.Leu123Val) c.217C>G (p.Leu73Val) c.*263C>G (n.*263C>G) c.307C>G (p.Leu103Val) c.255+1193C>G (n.255+1193C>G) n.398C>G c.331-6C>G (n.331-6C>G) c.328C>G (p.Leu110Val) c.331C>G (p.Leu111Val) n.476C>G c.277C>G (p.Leu93Val) c.424C>G (p.Leu142Val) c.355C>G (p.Leu119Val) | |
| 15 | g.74892682C>T | CA393173372 | MPI | c.367C>T (p.Leu123Phe) c.217C>T (p.Leu73Phe) c.*263C>T (n.*263C>T) c.307C>T (p.Leu103Phe) c.255+1193C>T (n.255+1193C>T) n.398C>T c.331-6C>T (n.331-6C>T) c.328C>T (p.Leu110Phe) c.331C>T (p.Leu111Phe) n.476C>T c.277C>T (p.Leu93Phe) c.424C>T (p.Leu142Phe) c.355C>T (p.Leu119Phe) | |
| 15 | g.74892683T>A | CA393173373 | MPI | c.368T>A (p.Leu123His) c.218T>A (p.Leu73His) c.*264T>A (n.*264T>A) c.308T>A (p.Leu103His) c.255+1194T>A (n.255+1194T>A) n.399T>A c.331-5T>A (n.331-5T>A) c.329T>A (p.Leu110His) c.332T>A (p.Leu111His) n.477T>A c.278T>A (p.Leu93His) c.425T>A (p.Leu142His) c.356T>A (p.Leu119His) | |
| 15 | g.74892683T>C | CA393173375 | MPI | c.368T>C (p.Leu123Pro) c.218T>C (p.Leu73Pro) c.*264T>C (n.*264T>C) c.308T>C (p.Leu103Pro) c.255+1194T>C (n.255+1194T>C) n.399T>C c.331-5T>C (n.331-5T>C) c.329T>C (p.Leu110Pro) c.332T>C (p.Leu111Pro) n.477T>C c.278T>C (p.Leu93Pro) c.425T>C (p.Leu142Pro) c.356T>C (p.Leu119Pro) | |
| 15 | g.74892683T>G | CA393173374 | MPI | c.368T>G (p.Leu123Arg) c.218T>G (p.Leu73Arg) c.*264T>G (n.*264T>G) c.308T>G (p.Leu103Arg) c.255+1194T>G (n.255+1194T>G) n.399T>G c.331-5T>G (n.331-5T>G) c.329T>G (p.Leu110Arg) c.332T>G (p.Leu111Arg) n.477T>G c.278T>G (p.Leu93Arg) c.425T>G (p.Leu142Arg) c.356T>G (p.Leu119Arg) | |
| 15 | g.74892684C>A | CA491220308 | MPI | c.369C>A (p.Leu123=) c.219C>A (p.Leu73=) c.*265C>A (n.*265C>A) c.309C>A (p.Leu103=) c.255+1195C>A (n.255+1195C>A) n.400C>A c.331-4C>A (n.331-4C>A) c.330C>A (p.Leu110=) c.333C>A (p.Leu111=) n.478C>A c.279C>A (p.Leu93=) c.426C>A (p.Leu142=) c.357C>A (p.Leu119=) | |
| 15 | g.74892684C>G | CA491220309 | MPI | c.369C>G (p.Leu123=) c.219C>G (p.Leu73=) c.*265C>G (n.*265C>G) c.309C>G (p.Leu103=) c.255+1195C>G (n.255+1195C>G) n.400C>G c.331-4C>G (n.331-4C>G) c.330C>G (p.Leu110=) c.333C>G (p.Leu111=) n.478C>G c.279C>G (p.Leu93=) c.426C>G (p.Leu142=) c.357C>G (p.Leu119=) | |
| 15 | g.74892684C>T | CA491220310 | MPI | c.369C>T (p.Leu123=) c.219C>T (p.Leu73=) c.*265C>T (n.*265C>T) c.309C>T (p.Leu103=) c.255+1195C>T (n.255+1195C>T) n.400C>T c.331-4C>T (n.331-4C>T) c.330C>T (p.Leu110=) c.333C>T (p.Leu111=) n.478C>T c.279C>T (p.Leu93=) c.426C>T (p.Leu142=) c.357C>T (p.Leu119=) | ClinVar |
| 15 | g.74892685dup | CA2739269587 | MPI | c.370dup (p.Gln124ProfsTer?) c.220dup (p.Gln74ProfsTer?) c.*266dup (n.*266dup) c.310dup (p.Gln104ProfsTer?) c.255+1196dup (n.255+1196dup) n.401dup c.331-3dup (n.331-3dup) c.331dup (p.Gln111ProfsTer?) c.334dup (p.Gln112ProfsTer?) n.479dup c.280dup (p.Gln94ProfsTer?) c.427dup (p.Gln143ProfsTer?) c.358dup (p.Gln120ProfsTer?) | ClinVar |
| 15 | g.74892685C>A | CA393173376 | MPI | c.370C>A (p.Gln124Lys) c.220C>A (p.Gln74Lys) c.*266C>A (n.*266C>A) c.310C>A (p.Gln104Lys) c.255+1196C>A (n.255+1196C>A) n.401C>A c.331-3C>A (n.331-3C>A) c.331C>A (p.Gln111Lys) c.334C>A (p.Gln112Lys) n.479C>A c.280C>A (p.Gln94Lys) c.427C>A (p.Gln143Lys) c.358C>A (p.Gln120Lys) | |
| 15 | g.74892685C>G | CA393173377 | MPI | c.370C>G (p.Gln124Glu) c.220C>G (p.Gln74Glu) c.*266C>G (n.*266C>G) c.310C>G (p.Gln104Glu) c.255+1196C>G (n.255+1196C>G) n.401C>G c.331-3C>G (n.331-3C>G) c.331C>G (p.Gln111Glu) c.334C>G (p.Gln112Glu) n.479C>G c.280C>G (p.Gln94Glu) c.427C>G (p.Gln143Glu) c.358C>G (p.Gln120Glu) | gnomAD v4 |
| 15 | g.74892685C>T | CA393173378 | MPI | c.370C>T (p.Gln124Ter) c.220C>T (p.Gln74Ter) c.*266C>T (n.*266C>T) c.310C>T (p.Gln104Ter) c.255+1196C>T (n.255+1196C>T) n.401C>T c.331-3C>T (n.331-3C>T) c.331C>T (p.Gln111Ter) c.334C>T (p.Gln112Ter) n.479C>T c.280C>T (p.Gln94Ter) c.427C>T (p.Gln143Ter) c.358C>T (p.Gln120Ter) | |
| 15 | g.74892686A= | CA2187896780 | MPI | c.371A= (p.Gln124=) c.221A= (p.Gln74=) c.*267A= (n.*267A=) c.311A= (p.Gln104=) c.255+1197A= (n.255+1197A=) n.402A= c.331-2A= (n.331-2A=) c.332A= (p.Gln111=) c.335A= (p.Gln112=) n.480A= c.281A= (p.Gln94=) c.428A= (p.Gln143=) c.359A= (p.Gln120=) | |
| 15 | g.74892686A>C | CA393173379 | MPI | c.371A>C (p.Gln124Pro) c.221A>C (p.Gln74Pro) c.*267A>C (n.*267A>C) c.311A>C (p.Gln104Pro) c.255+1197A>C (n.255+1197A>C) n.402A>C c.331-2A>C (n.331-2A>C) c.332A>C (p.Gln111Pro) c.335A>C (p.Gln112Pro) n.480A>C c.281A>C (p.Gln94Pro) c.428A>C (p.Gln143Pro) c.359A>C (p.Gln120Pro) | |
| 15 | g.74892686A>G | CA393173380 | MPI | c.371A>G (p.Gln124Arg) c.221A>G (p.Gln74Arg) c.*267A>G (n.*267A>G) c.311A>G (p.Gln104Arg) c.255+1197A>G (n.255+1197A>G) n.402A>G c.331-2A>G (n.331-2A>G) c.332A>G (p.Gln111Arg) c.335A>G (p.Gln112Arg) n.480A>G c.281A>G (p.Gln94Arg) c.428A>G (p.Gln143Arg) c.359A>G (p.Gln120Arg) | |
| 15 | g.74892686A>T | CA272823087 | MPI | c.371A>T (p.Gln124Leu) c.221A>T (p.Gln74Leu) c.*267A>T (n.*267A>T) c.311A>T (p.Gln104Leu) c.255+1197A>T (n.255+1197A>T) n.402A>T c.331-2A>T (n.331-2A>T) c.332A>T (p.Gln111Leu) c.335A>T (p.Gln112Leu) n.480A>T c.281A>T (p.Gln94Leu) c.428A>T (p.Gln143Leu) c.359A>T (p.Gln120Leu) | dbSNP |
| 15 | g.74892687G>A | CA393173381 | MPI | c.372G>A (p.Gln124=) c.222G>A (p.Gln74=) c.*268G>A (n.*268G>A) c.312G>A (p.Gln104=) c.255+1198G>A (n.255+1198G>A) n.403G>A c.331-1G>A (n.331-1G>A) c.333G>A (p.Gln111=) c.336G>A (p.Gln112=) n.481G>A c.282G>A (p.Gln94=) c.429G>A (p.Gln143=) c.360G>A (p.Gln120=) | |
| 15 | g.74892687G>C | CA393173382 | MPI | c.372G>C (p.Gln124His) c.222G>C (p.Gln74His) c.*268G>C (n.*268G>C) c.312G>C (p.Gln104His) c.255+1198G>C (n.255+1198G>C) n.403G>C c.331-1G>C (n.331-1G>C) c.333G>C (p.Gln111His) c.336G>C (p.Gln112His) n.481G>C c.282G>C (p.Gln94His) c.429G>C (p.Gln143His) c.360G>C (p.Gln120His) | |
| 15 | g.74892687G>T | CA393173383 | MPI | c.372G>T (p.Gln124His) c.222G>T (p.Gln74His) c.*268G>T (n.*268G>T) c.312G>T (p.Gln104His) c.255+1198G>T (n.255+1198G>T) n.403G>T c.331-1G>T (n.331-1G>T) c.333G>T (p.Gln111His) c.336G>T (p.Gln112His) n.481G>T c.282G>T (p.Gln94His) c.429G>T (p.Gln143His) c.360G>T (p.Gln120His) | |
| 15 | g.74892688G>A | CA393173385 | MPI | c.373G>A (p.Ala125Thr) c.223G>A (p.Ala75Thr) c.*269G>A (n.*269G>A) c.313G>A (p.Ala105Thr) c.255+1199G>A (n.255+1199G>A) n.404G>A c.331G>A (p.Ala111Thr) c.334G>A (p.Ala112Thr) c.337G>A (p.Ala113Thr) n.482G>A c.283G>A (p.Ala95Thr) c.430G>A (p.Ala144Thr) c.361G>A (p.Ala121Thr) | gnomAD v4 |
| 15 | g.74892688G>C | CA393173386 | MPI | c.373G>C (p.Ala125Pro) c.223G>C (p.Ala75Pro) c.*269G>C (n.*269G>C) c.313G>C (p.Ala105Pro) c.255+1199G>C (n.255+1199G>C) n.404G>C c.331G>C (p.Ala111Pro) c.334G>C (p.Ala112Pro) c.337G>C (p.Ala113Pro) n.482G>C c.283G>C (p.Ala95Pro) c.430G>C (p.Ala144Pro) c.361G>C (p.Ala121Pro) | |
| 15 | g.74892688G>T | CA393173384 | MPI | c.373G>T (p.Ala125Ser) c.223G>T (p.Ala75Ser) c.*269G>T (n.*269G>T) c.313G>T (p.Ala105Ser) c.255+1199G>T (n.255+1199G>T) n.404G>T c.331G>T (p.Ala111Ser) c.334G>T (p.Ala112Ser) c.337G>T (p.Ala113Ser) n.482G>T c.283G>T (p.Ala95Ser) c.430G>T (p.Ala144Ser) c.361G>T (p.Ala121Ser) | gnomAD v4 |
| 15 | g.74892689C>A | CA7662424 | MPI | c.374C>A (p.Ala125Asp) c.224C>A (p.Ala75Asp) c.*270C>A (n.*270C>A) c.314C>A (p.Ala105Asp) c.255+1200C>A (n.255+1200C>A) n.405C>A c.332C>A (p.Ala111Asp) c.335C>A (p.Ala112Asp) c.338C>A (p.Ala113Asp) n.483C>A c.284C>A (p.Ala95Asp) c.431C>A (p.Ala144Asp) c.362C>A (p.Ala121Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74892689C= | CA2187896783 | MPI | c.374C= (p.Ala125=) c.224C= (p.Ala75=) c.*270C= (n.*270C=) c.314C= (p.Ala105=) c.255+1200C= (n.255+1200C=) n.405C= c.332C= (p.Ala111=) c.335C= (p.Ala112=) c.338C= (p.Ala113=) n.483C= c.284C= (p.Ala95=) c.431C= (p.Ala144=) c.362C= (p.Ala121=) | |
| 15 | g.74892689C>G | CA393173387 | MPI | c.374C>G (p.Ala125Gly) c.224C>G (p.Ala75Gly) c.*270C>G (n.*270C>G) c.314C>G (p.Ala105Gly) c.255+1200C>G (n.255+1200C>G) n.405C>G c.332C>G (p.Ala111Gly) c.335C>G (p.Ala112Gly) c.338C>G (p.Ala113Gly) n.483C>G c.284C>G (p.Ala95Gly) c.431C>G (p.Ala144Gly) c.362C>G (p.Ala121Gly) | dbSNP |
| 15 | g.74892689C>T | CA393173388 | MPI | c.374C>T (p.Ala125Val) c.224C>T (p.Ala75Val) c.*270C>T (n.*270C>T) c.314C>T (p.Ala105Val) c.255+1200C>T (n.255+1200C>T) n.405C>T c.332C>T (p.Ala111Val) c.335C>T (p.Ala112Val) c.338C>T (p.Ala113Val) n.483C>T c.284C>T (p.Ala95Val) c.431C>T (p.Ala144Val) c.362C>T (p.Ala121Val) | |
| 15 | g.74892690T>A | CA491220314 | MPI | c.375T>A (p.Ala125=) c.225T>A (p.Ala75=) c.*271T>A (n.*271T>A) c.315T>A (p.Ala105=) c.255+1201T>A (n.255+1201T>A) n.406T>A c.333T>A (p.Ala111=) c.336T>A (p.Ala112=) c.339T>A (p.Ala113=) n.484T>A c.285T>A (p.Ala95=) c.432T>A (p.Ala144=) c.363T>A (p.Ala121=) | |
| 15 | g.74892690T>C | CA491220315 | MPI | c.375T>C (p.Ala125=) c.225T>C (p.Ala75=) c.*271T>C (n.*271T>C) c.315T>C (p.Ala105=) c.255+1201T>C (n.255+1201T>C) n.406T>C c.333T>C (p.Ala111=) c.336T>C (p.Ala112=) c.339T>C (p.Ala113=) n.484T>C c.285T>C (p.Ala95=) c.432T>C (p.Ala144=) c.363T>C (p.Ala121=) | |
| 15 | g.74892690T>G | CA491220316 | MPI | c.375T>G (p.Ala125=) c.225T>G (p.Ala75=) c.*271T>G (n.*271T>G) c.315T>G (p.Ala105=) c.255+1201T>G (n.255+1201T>G) n.406T>G c.333T>G (p.Ala111=) c.336T>G (p.Ala112=) c.339T>G (p.Ala113=) n.484T>G c.285T>G (p.Ala95=) c.432T>G (p.Ala144=) c.363T>G (p.Ala121=) | |
| 15 | g.74892690T= | CA2187896785 | MPI | c.375T= (p.Ala125=) c.225T= (p.Ala75=) c.*271T= (n.*271T=) c.315T= (p.Ala105=) c.255+1201T= (n.255+1201T=) n.406T= c.333T= (p.Ala111=) c.336T= (p.Ala112=) c.339T= (p.Ala113=) n.484T= c.285T= (p.Ala95=) c.432T= (p.Ala144=) c.363T= (p.Ala121=) | |
| 15 | g.74892691C>A | CA393173389 | MPI | c.376C>A (p.Pro126Thr) c.226C>A (p.Pro76Thr) c.*272C>A (n.*272C>A) c.316C>A (p.Pro106Thr) c.255+1202C>A (n.255+1202C>A) n.407C>A c.334C>A (p.Pro112Thr) c.337C>A (p.Pro113Thr) c.340C>A (p.Pro114Thr) n.485C>A c.286C>A (p.Pro96Thr) c.433C>A (p.Pro145Thr) c.364C>A (p.Pro122Thr) | |
| 15 | g.74892691C>G | CA393173390 | MPI | c.376C>G (p.Pro126Ala) c.226C>G (p.Pro76Ala) c.*272C>G (n.*272C>G) c.316C>G (p.Pro106Ala) c.255+1202C>G (n.255+1202C>G) n.407C>G c.334C>G (p.Pro112Ala) c.337C>G (p.Pro113Ala) c.340C>G (p.Pro114Ala) n.485C>G c.286C>G (p.Pro96Ala) c.433C>G (p.Pro145Ala) c.364C>G (p.Pro122Ala) | |
| 15 | g.74892691C>T | CA393173391 | MPI | c.376C>T (p.Pro126Ser) c.226C>T (p.Pro76Ser) c.*272C>T (n.*272C>T) c.316C>T (p.Pro106Ser) c.255+1202C>T (n.255+1202C>T) n.407C>T c.334C>T (p.Pro112Ser) c.337C>T (p.Pro113Ser) c.340C>T (p.Pro114Ser) n.485C>T c.286C>T (p.Pro96Ser) c.433C>T (p.Pro145Ser) c.364C>T (p.Pro122Ser) | |
| 15 | g.74892691_74892711dup | CA619126236 | MPI | c.376_396dup (p.Ala132_Asn133insProGlnHisTyrProAspAla) c.226_246dup (p.Ala82_Asn83insProGlnHisTyrProAspAla) c.*272_*292dup (n.*272_*292dup) c.316_336dup (p.Ala112_Asn113insProGlnHisTyrProAspAla) c.255+1202_255+1222dup (n.255+1202_255+1222dup) n.407_427dup c.334_354dup (p.Ala118_Asn119insProGlnHisTyrProAspAla) c.337_357dup (p.Ala119_Asn120insProGlnHisTyrProAspAla) c.340_360dup (p.Ala120_Asn121insProGlnHisTyrProAspAla) n.485_505dup c.286_306dup (p.Ala102_Asn103insProGlnHisTyrProAspAla) c.433_453dup (p.Ala151_Asn152insProGlnHisTyrProAspAla) c.364_384dup (p.Ala128_Asn129insProGlnHisTyrProAspAla) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74892692C>A | CA393173392 | MPI | c.377C>A (p.Pro126Gln) c.227C>A (p.Pro76Gln) c.*273C>A (n.*273C>A) c.317C>A (p.Pro106Gln) c.255+1203C>A (n.255+1203C>A) n.408C>A c.335C>A (p.Pro112Gln) c.338C>A (p.Pro113Gln) c.341C>A (p.Pro114Gln) n.486C>A c.287C>A (p.Pro96Gln) c.434C>A (p.Pro145Gln) c.365C>A (p.Pro122Gln) | |
| 15 | g.74892692C= | CA2187896789 | MPI | c.377C= (p.Pro126=) c.227C= (p.Pro76=) c.*273C= (n.*273C=) c.317C= (p.Pro106=) c.255+1203C= (n.255+1203C=) n.408C= c.335C= (p.Pro112=) c.338C= (p.Pro113=) c.341C= (p.Pro114=) n.486C= c.287C= (p.Pro96=) c.434C= (p.Pro145=) c.365C= (p.Pro122=) | |
| 15 | g.74892692C>G | CA393173393 | MPI | c.377C>G (p.Pro126Arg) c.227C>G (p.Pro76Arg) c.*273C>G (n.*273C>G) c.317C>G (p.Pro106Arg) c.255+1203C>G (n.255+1203C>G) n.408C>G c.335C>G (p.Pro112Arg) c.338C>G (p.Pro113Arg) c.341C>G (p.Pro114Arg) n.486C>G c.287C>G (p.Pro96Arg) c.434C>G (p.Pro145Arg) c.365C>G (p.Pro122Arg) | |
| 15 | g.74892692C>T | CA7662425 | MPI | c.377C>T (p.Pro126Leu) c.227C>T (p.Pro76Leu) c.*273C>T (n.*273C>T) c.317C>T (p.Pro106Leu) c.255+1203C>T (n.255+1203C>T) n.408C>T c.335C>T (p.Pro112Leu) c.338C>T (p.Pro113Leu) c.341C>T (p.Pro114Leu) n.486C>T c.287C>T (p.Pro96Leu) c.434C>T (p.Pro145Leu) c.365C>T (p.Pro122Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.74892693G>A | CA7662426 | MPI | c.378G>A (p.Pro126=) c.228G>A (p.Pro76=) c.*274G>A (n.*274G>A) c.318G>A (p.Pro106=) c.255+1204G>A (n.255+1204G>A) n.409G>A c.336G>A (p.Pro112=) c.339G>A (p.Pro113=) c.342G>A (p.Pro114=) n.487G>A c.288G>A (p.Pro96=) c.435G>A (p.Pro145=) c.366G>A (p.Pro122=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74892693G>C | CA491220319 | MPI | c.378G>C (p.Pro126=) c.228G>C (p.Pro76=) c.*274G>C (n.*274G>C) c.318G>C (p.Pro106=) c.255+1204G>C (n.255+1204G>C) n.409G>C c.336G>C (p.Pro112=) c.339G>C (p.Pro113=) c.342G>C (p.Pro114=) n.487G>C c.288G>C (p.Pro96=) c.435G>C (p.Pro145=) c.366G>C (p.Pro122=) | |
| 15 | g.74892693G= | CA2187896792 | MPI | c.378G= (p.Pro126=) c.228G= (p.Pro76=) c.*274G= (n.*274G=) c.318G= (p.Pro106=) c.255+1204G= (n.255+1204G=) n.409G= c.336G= (p.Pro112=) c.339G= (p.Pro113=) c.342G= (p.Pro114=) n.487G= c.288G= (p.Pro96=) c.435G= (p.Pro145=) c.366G= (p.Pro122=) | |
| 15 | g.74892693G>T | CA491220318 | MPI | c.378G>T (p.Pro126=) c.228G>T (p.Pro76=) c.*274G>T (n.*274G>T) c.318G>T (p.Pro106=) c.255+1204G>T (n.255+1204G>T) n.409G>T c.336G>T (p.Pro112=) c.339G>T (p.Pro113=) c.342G>T (p.Pro114=) n.487G>T c.288G>T (p.Pro96=) c.435G>T (p.Pro145=) c.366G>T (p.Pro122=) | gnomAD v4 |
| 15 | g.74892694C>A | CA393173394 | MPI | c.379C>A (p.Gln127Lys) c.229C>A (p.Gln77Lys) c.*275C>A (n.*275C>A) c.319C>A (p.Gln107Lys) c.255+1205C>A (n.255+1205C>A) n.410C>A c.337C>A (p.Gln113Lys) c.340C>A (p.Gln114Lys) c.343C>A (p.Gln115Lys) n.488C>A c.289C>A (p.Gln97Lys) c.436C>A (p.Gln146Lys) c.367C>A (p.Gln123Lys) | |
| 15 | g.74892694C>G | CA393173395 | MPI | c.379C>G (p.Gln127Glu) c.229C>G (p.Gln77Glu) c.*275C>G (n.*275C>G) c.319C>G (p.Gln107Glu) c.255+1205C>G (n.255+1205C>G) n.410C>G c.337C>G (p.Gln113Glu) c.340C>G (p.Gln114Glu) c.343C>G (p.Gln115Glu) n.488C>G c.289C>G (p.Gln97Glu) c.436C>G (p.Gln146Glu) c.367C>G (p.Gln123Glu) | |
| 15 | g.74892694C>T | CA393173396 | MPI | c.379C>T (p.Gln127Ter) c.229C>T (p.Gln77Ter) c.*275C>T (n.*275C>T) c.319C>T (p.Gln107Ter) c.255+1205C>T (n.255+1205C>T) n.410C>T c.337C>T (p.Gln113Ter) c.340C>T (p.Gln114Ter) c.343C>T (p.Gln115Ter) n.488C>T c.289C>T (p.Gln97Ter) c.436C>T (p.Gln146Ter) c.367C>T (p.Gln123Ter) | |
| 15 | g.74892695A>C | CA393173399 | MPI | c.380A>C (p.Gln127Pro) c.230A>C (p.Gln77Pro) c.*276A>C (n.*276A>C) c.320A>C (p.Gln107Pro) c.255+1206A>C (n.255+1206A>C) n.411A>C c.338A>C (p.Gln113Pro) c.341A>C (p.Gln114Pro) c.344A>C (p.Gln115Pro) n.489A>C c.290A>C (p.Gln97Pro) c.437A>C (p.Gln146Pro) c.368A>C (p.Gln123Pro) | |
| 15 | g.74892695A>G | CA393173398 | MPI | c.380A>G (p.Gln127Arg) c.230A>G (p.Gln77Arg) c.*276A>G (n.*276A>G) c.320A>G (p.Gln107Arg) c.255+1206A>G (n.255+1206A>G) n.411A>G c.338A>G (p.Gln113Arg) c.341A>G (p.Gln114Arg) c.344A>G (p.Gln115Arg) n.489A>G c.290A>G (p.Gln97Arg) c.437A>G (p.Gln146Arg) c.368A>G (p.Gln123Arg) | gnomAD v4 |
| 15 | g.74892695A>T | CA393173397 | MPI | c.380A>T (p.Gln127Leu) c.230A>T (p.Gln77Leu) c.*276A>T (n.*276A>T) c.320A>T (p.Gln107Leu) c.255+1206A>T (n.255+1206A>T) n.411A>T c.338A>T (p.Gln113Leu) c.341A>T (p.Gln114Leu) c.344A>T (p.Gln115Leu) n.489A>T c.290A>T (p.Gln97Leu) c.437A>T (p.Gln146Leu) c.368A>T (p.Gln123Leu) | |
| 15 | g.74892696G>A | CA491220320 | MPI | c.381G>A (p.Gln127=) c.231G>A (p.Gln77=) c.*277G>A (n.*277G>A) c.321G>A (p.Gln107=) c.255+1207G>A (n.255+1207G>A) n.412G>A c.339G>A (p.Gln113=) c.342G>A (p.Gln114=) c.345G>A (p.Gln115=) n.490G>A c.291G>A (p.Gln97=) c.438G>A (p.Gln146=) c.369G>A (p.Gln123=) | ClinVar |
| 15 | g.74892696G>C | CA393173400 | MPI | c.381G>C (p.Gln127His) c.231G>C (p.Gln77His) c.*277G>C (n.*277G>C) c.321G>C (p.Gln107His) c.255+1207G>C (n.255+1207G>C) n.412G>C c.339G>C (p.Gln113His) c.342G>C (p.Gln114His) c.345G>C (p.Gln115His) n.490G>C c.291G>C (p.Gln97His) c.438G>C (p.Gln146His) c.369G>C (p.Gln123His) | |
| 15 | g.74892696G>T | CA393173401 | MPI | c.381G>T (p.Gln127His) c.231G>T (p.Gln77His) c.*277G>T (n.*277G>T) c.321G>T (p.Gln107His) c.255+1207G>T (n.255+1207G>T) n.412G>T c.339G>T (p.Gln113His) c.342G>T (p.Gln114His) c.345G>T (p.Gln115His) n.490G>T c.291G>T (p.Gln97His) c.438G>T (p.Gln146His) c.369G>T (p.Gln123His) | |
| 15 | g.74892697C>A | CA393173402 | MPI | c.382C>A (p.His128Asn) c.232C>A (p.His78Asn) c.*278C>A (n.*278C>A) c.322C>A (p.His108Asn) c.255+1208C>A (n.255+1208C>A) n.413C>A c.340C>A (p.His114Asn) c.343C>A (p.His115Asn) c.346C>A (p.His116Asn) n.491C>A c.292C>A (p.His98Asn) c.439C>A (p.His147Asn) c.370C>A (p.His124Asn) | gnomAD v4 |
| 15 | g.74892697C= | CA2187896795 | MPI | c.382C= (p.His128=) c.232C= (p.His78=) c.*278C= (n.*278C=) c.322C= (p.His108=) c.255+1208C= (n.255+1208C=) n.413C= c.340C= (p.His114=) c.343C= (p.His115=) c.346C= (p.His116=) n.491C= c.292C= (p.His98=) c.439C= (p.His147=) c.370C= (p.His124=) | |
| 15 | g.74892697C>G | CA393173403 | MPI | c.382C>G (p.His128Asp) c.232C>G (p.His78Asp) c.*278C>G (n.*278C>G) c.322C>G (p.His108Asp) c.255+1208C>G (n.255+1208C>G) n.413C>G c.340C>G (p.His114Asp) c.343C>G (p.His115Asp) c.346C>G (p.His116Asp) n.491C>G c.292C>G (p.His98Asp) c.439C>G (p.His147Asp) c.370C>G (p.His124Asp) | |
| 15 | g.74892697C>T | CA7662427 | MPI | c.382C>T (p.His128Tyr) c.232C>T (p.His78Tyr) c.*278C>T (n.*278C>T) c.322C>T (p.His108Tyr) c.255+1208C>T (n.255+1208C>T) n.413C>T c.340C>T (p.His114Tyr) c.343C>T (p.His115Tyr) c.346C>T (p.His116Tyr) n.491C>T c.292C>T (p.His98Tyr) c.439C>T (p.His147Tyr) c.370C>T (p.His124Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74892698A>C | CA393173404 | MPI | c.383A>C (p.His128Pro) c.233A>C (p.His78Pro) c.*279A>C (n.*279A>C) c.323A>C (p.His108Pro) c.255+1209A>C (n.255+1209A>C) n.414A>C c.341A>C (p.His114Pro) c.344A>C (p.His115Pro) c.347A>C (p.His116Pro) n.492A>C c.293A>C (p.His98Pro) c.440A>C (p.His147Pro) c.371A>C (p.His124Pro) | |
| 15 | g.74892698A>G | CA393173405 | MPI | c.383A>G (p.His128Arg) c.233A>G (p.His78Arg) c.*279A>G (n.*279A>G) c.323A>G (p.His108Arg) c.255+1209A>G (n.255+1209A>G) n.414A>G c.341A>G (p.His114Arg) c.344A>G (p.His115Arg) c.347A>G (p.His116Arg) n.492A>G c.293A>G (p.His98Arg) c.440A>G (p.His147Arg) c.371A>G (p.His124Arg) | |
| 15 | g.74892698A>T | CA393173406 | MPI | c.383A>T (p.His128Leu) c.233A>T (p.His78Leu) c.*279A>T (n.*279A>T) c.323A>T (p.His108Leu) c.255+1209A>T (n.255+1209A>T) n.414A>T c.341A>T (p.His114Leu) c.344A>T (p.His115Leu) c.347A>T (p.His116Leu) n.492A>T c.293A>T (p.His98Leu) c.440A>T (p.His147Leu) c.371A>T (p.His124Leu) | |
| 15 | g.74892699C>A | CA393173407 | MPI | c.384C>A (p.His128Gln) c.234C>A (p.His78Gln) c.*280C>A (n.*280C>A) c.324C>A (p.His108Gln) c.255+1210C>A (n.255+1210C>A) n.415C>A c.342C>A (p.His114Gln) c.345C>A (p.His115Gln) c.348C>A (p.His116Gln) n.493C>A c.294C>A (p.His98Gln) c.441C>A (p.His147Gln) c.372C>A (p.His124Gln) | |
| 15 | g.74892699C>G | CA393173408 | MPI | c.384C>G (p.His128Gln) c.234C>G (p.His78Gln) c.*280C>G (n.*280C>G) c.324C>G (p.His108Gln) c.255+1210C>G (n.255+1210C>G) n.415C>G c.342C>G (p.His114Gln) c.345C>G (p.His115Gln) c.348C>G (p.His116Gln) n.493C>G c.294C>G (p.His98Gln) c.441C>G (p.His147Gln) c.372C>G (p.His124Gln) | |
| 15 | g.74892699C>T | CA491220322 | MPI | c.384C>T (p.His128=) c.234C>T (p.His78=) c.*280C>T (n.*280C>T) c.324C>T (p.His108=) c.255+1210C>T (n.255+1210C>T) n.415C>T c.342C>T (p.His114=) c.345C>T (p.His115=) c.348C>T (p.His116=) n.493C>T c.294C>T (p.His98=) c.441C>T (p.His147=) c.372C>T (p.His124=) | |
| 15 | g.74892700T>A | CA393173409 | MPI | c.385T>A (p.Tyr129Asn) c.235T>A (p.Tyr79Asn) c.*281T>A (n.*281T>A) c.325T>A (p.Tyr109Asn) c.255+1211T>A (n.255+1211T>A) n.416T>A c.343T>A (p.Tyr115Asn) c.346T>A (p.Tyr116Asn) c.349T>A (p.Tyr117Asn) n.494T>A c.295T>A (p.Tyr99Asn) c.442T>A (p.Tyr148Asn) c.373T>A (p.Tyr125Asn) | |
| 15 | g.74892700T>C | CA272823147 | MPI | c.385T>C (p.Tyr129His) c.235T>C (p.Tyr79His) c.*281T>C (n.*281T>C) c.325T>C (p.Tyr109His) c.255+1211T>C (n.255+1211T>C) n.416T>C c.343T>C (p.Tyr115His) c.346T>C (p.Tyr116His) c.349T>C (p.Tyr117His) n.494T>C c.295T>C (p.Tyr99His) c.442T>C (p.Tyr148His) c.373T>C (p.Tyr125His) | dbSNP |
| 15 | g.74892700T>G | CA393173410 | MPI | c.385T>G (p.Tyr129Asp) c.235T>G (p.Tyr79Asp) c.*281T>G (n.*281T>G) c.325T>G (p.Tyr109Asp) c.255+1211T>G (n.255+1211T>G) n.416T>G c.343T>G (p.Tyr115Asp) c.346T>G (p.Tyr116Asp) c.349T>G (p.Tyr117Asp) n.494T>G c.295T>G (p.Tyr99Asp) c.442T>G (p.Tyr148Asp) c.373T>G (p.Tyr125Asp) | |
| 15 | g.74892700T= | CA2187896797 | MPI | c.385T= (p.Tyr129=) c.235T= (p.Tyr79=) c.*281T= (n.*281T=) c.325T= (p.Tyr109=) c.255+1211T= (n.255+1211T=) n.416T= c.343T= (p.Tyr115=) c.346T= (p.Tyr116=) c.349T= (p.Tyr117=) n.494T= c.295T= (p.Tyr99=) c.442T= (p.Tyr148=) c.373T= (p.Tyr125=) | |
| 15 | g.74892701A= | CA2187896801 | MPI | c.386A= (p.Tyr129=) c.236A= (p.Tyr79=) c.*282A= (n.*282A=) c.326A= (p.Tyr109=) c.255+1212A= (n.255+1212A=) n.417A= c.344A= (p.Tyr115=) c.347A= (p.Tyr116=) c.350A= (p.Tyr117=) n.495A= c.296A= (p.Tyr99=) c.443A= (p.Tyr148=) c.374A= (p.Tyr125=) | |
| 15 | g.74892701A>C | CA393173412 | MPI | c.386A>C (p.Tyr129Ser) c.236A>C (p.Tyr79Ser) c.*282A>C (n.*282A>C) c.326A>C (p.Tyr109Ser) c.255+1212A>C (n.255+1212A>C) n.417A>C c.344A>C (p.Tyr115Ser) c.347A>C (p.Tyr116Ser) c.350A>C (p.Tyr117Ser) n.495A>C c.296A>C (p.Tyr99Ser) c.443A>C (p.Tyr148Ser) c.374A>C (p.Tyr125Ser) | dbSNP |
| 15 | g.74892701A>G | CA272823148 | MPI | c.386A>G (p.Tyr129Cys) c.236A>G (p.Tyr79Cys) c.*282A>G (n.*282A>G) c.326A>G (p.Tyr109Cys) c.255+1212A>G (n.255+1212A>G) n.417A>G c.344A>G (p.Tyr115Cys) c.347A>G (p.Tyr116Cys) c.350A>G (p.Tyr117Cys) n.495A>G c.296A>G (p.Tyr99Cys) c.443A>G (p.Tyr148Cys) c.374A>G (p.Tyr125Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74892701A>T | CA393173411 | MPI | c.386A>T (p.Tyr129Phe) c.236A>T (p.Tyr79Phe) c.*282A>T (n.*282A>T) c.326A>T (p.Tyr109Phe) c.255+1212A>T (n.255+1212A>T) n.417A>T c.344A>T (p.Tyr115Phe) c.347A>T (p.Tyr116Phe) c.350A>T (p.Tyr117Phe) n.495A>T c.296A>T (p.Tyr99Phe) c.443A>T (p.Tyr148Phe) c.374A>T (p.Tyr125Phe) | |
| 15 | g.74892703_74892717dup | CA715703881 | MPI | c.388_402dup (p.His134_Lys135insProAspAlaAsnHis) c.238_252dup (p.His84_Lys85insProAspAlaAsnHis) c.*284_*298dup (n.*284_*298dup) c.328_342dup (p.His114_Lys115insProAspAlaAsnHis) c.255+1214_255+1228dup (n.255+1214_255+1228dup) n.419_433dup c.346_360dup (p.His120_Lys121insProAspAlaAsnHis) c.349_363dup (p.His121_Lys122insProAspAlaAsnHis) c.352_366dup (p.His122_Lys123insProAspAlaAsnHis) n.497_511dup c.298_312dup (p.His104_Lys105insProAspAlaAsnHis) c.445_459dup (p.His153_Lys154insProAspAlaAsnHis) c.376_390dup (p.His130_Lys131insProAspAlaAsnHis) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74892702C>A | CA393173414 | MPI | c.387C>A (p.Tyr129Ter) c.237C>A (p.Tyr79Ter) c.*283C>A (n.*283C>A) c.327C>A (p.Tyr109Ter) c.255+1213C>A (n.255+1213C>A) n.418C>A c.345C>A (p.Tyr115Ter) c.348C>A (p.Tyr116Ter) c.351C>A (p.Tyr117Ter) n.496C>A c.297C>A (p.Tyr99Ter) c.444C>A (p.Tyr148Ter) c.375C>A (p.Tyr125Ter) | |
| 15 | g.74892702C>G | CA393173413 | MPI | c.387C>G (p.Tyr129Ter) c.237C>G (p.Tyr79Ter) c.*283C>G (n.*283C>G) c.327C>G (p.Tyr109Ter) c.255+1213C>G (n.255+1213C>G) n.418C>G c.345C>G (p.Tyr115Ter) c.348C>G (p.Tyr116Ter) c.351C>G (p.Tyr117Ter) n.496C>G c.297C>G (p.Tyr99Ter) c.444C>G (p.Tyr148Ter) c.375C>G (p.Tyr125Ter) | |
| 15 | g.74892702C>T | CA491220325 | MPI | c.387C>T (p.Tyr129=) c.237C>T (p.Tyr79=) c.*283C>T (n.*283C>T) c.327C>T (p.Tyr109=) c.255+1213C>T (n.255+1213C>T) n.418C>T c.345C>T (p.Tyr115=) c.348C>T (p.Tyr116=) c.351C>T (p.Tyr117=) n.496C>T c.297C>T (p.Tyr99=) c.444C>T (p.Tyr148=) c.375C>T (p.Tyr125=) | |
| 15 | g.74892703C>A | CA393173416 | MPI | c.388C>A (p.Pro130Thr) c.238C>A (p.Pro80Thr) c.*284C>A (n.*284C>A) c.328C>A (p.Pro110Thr) c.255+1214C>A (n.255+1214C>A) n.419C>A c.346C>A (p.Pro116Thr) c.349C>A (p.Pro117Thr) c.352C>A (p.Pro118Thr) n.497C>A c.298C>A (p.Pro100Thr) c.445C>A (p.Pro149Thr) c.376C>A (p.Pro126Thr) | |
| 15 | g.74892703C= | CA2187896804 | MPI | c.388C= (p.Pro130=) c.238C= (p.Pro80=) c.*284C= (n.*284C=) c.328C= (p.Pro110=) c.255+1214C= (n.255+1214C=) n.419C= c.346C= (p.Pro116=) c.349C= (p.Pro117=) c.352C= (p.Pro118=) n.497C= c.298C= (p.Pro100=) c.445C= (p.Pro149=) c.376C= (p.Pro126=) | |
| 15 | g.74892703C>G | CA393173415 | MPI | c.388C>G (p.Pro130Ala) c.238C>G (p.Pro80Ala) c.*284C>G (n.*284C>G) c.328C>G (p.Pro110Ala) c.255+1214C>G (n.255+1214C>G) n.419C>G c.346C>G (p.Pro116Ala) c.349C>G (p.Pro117Ala) c.352C>G (p.Pro118Ala) n.497C>G c.298C>G (p.Pro100Ala) c.445C>G (p.Pro149Ala) c.376C>G (p.Pro126Ala) | |
| 15 | g.74892703C>T | CA272823149 | MPI | c.388C>T (p.Pro130Ser) c.238C>T (p.Pro80Ser) c.*284C>T (n.*284C>T) c.328C>T (p.Pro110Ser) c.255+1214C>T (n.255+1214C>T) n.419C>T c.346C>T (p.Pro116Ser) c.349C>T (p.Pro117Ser) c.352C>T (p.Pro118Ser) n.497C>T c.298C>T (p.Pro100Ser) c.445C>T (p.Pro149Ser) c.376C>T (p.Pro126Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74892704C>A | CA393173417 | MPI | c.389C>A (p.Pro130His) c.239C>A (p.Pro80His) c.*285C>A (n.*285C>A) c.329C>A (p.Pro110His) c.255+1215C>A (n.255+1215C>A) n.420C>A c.347C>A (p.Pro116His) c.350C>A (p.Pro117His) c.353C>A (p.Pro118His) n.498C>A c.299C>A (p.Pro100His) c.446C>A (p.Pro149His) c.377C>A (p.Pro126His) | |
| 15 | g.74892704C= | CA2187896806 | MPI | c.389C= (p.Pro130=) c.239C= (p.Pro80=) c.*285C= (n.*285C=) c.329C= (p.Pro110=) c.255+1215C= (n.255+1215C=) n.420C= c.347C= (p.Pro116=) c.350C= (p.Pro117=) c.353C= (p.Pro118=) n.498C= c.299C= (p.Pro100=) c.446C= (p.Pro149=) c.377C= (p.Pro126=) | |
| 15 | g.74892704C>G | CA393173418 | MPI | c.389C>G (p.Pro130Arg) c.239C>G (p.Pro80Arg) c.*285C>G (n.*285C>G) c.329C>G (p.Pro110Arg) c.255+1215C>G (n.255+1215C>G) n.420C>G c.347C>G (p.Pro116Arg) c.350C>G (p.Pro117Arg) c.353C>G (p.Pro118Arg) n.498C>G c.299C>G (p.Pro100Arg) c.446C>G (p.Pro149Arg) c.377C>G (p.Pro126Arg) | |
| 15 | g.74892704C>T | CA7662428 | MPI | c.389C>T (p.Pro130Leu) c.239C>T (p.Pro80Leu) c.*285C>T (n.*285C>T) c.329C>T (p.Pro110Leu) c.255+1215C>T (n.255+1215C>T) n.420C>T c.347C>T (p.Pro116Leu) c.350C>T (p.Pro117Leu) c.353C>T (p.Pro118Leu) n.498C>T c.299C>T (p.Pro100Leu) c.446C>T (p.Pro149Leu) c.377C>T (p.Pro126Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74892705C>A | CA491220326 | MPI | c.390C>A (p.Pro130=) c.240C>A (p.Pro80=) c.*286C>A (n.*286C>A) c.330C>A (p.Pro110=) c.255+1216C>A (n.255+1216C>A) n.421C>A c.348C>A (p.Pro116=) c.351C>A (p.Pro117=) c.354C>A (p.Pro118=) n.499C>A c.300C>A (p.Pro100=) c.447C>A (p.Pro149=) c.378C>A (p.Pro126=) | |
| 15 | g.74892705C= | CA2187896808 | MPI | c.390C= (p.Pro130=) c.240C= (p.Pro80=) c.*286C= (n.*286C=) c.330C= (p.Pro110=) c.255+1216C= (n.255+1216C=) n.421C= c.348C= (p.Pro116=) c.351C= (p.Pro117=) c.354C= (p.Pro118=) n.499C= c.300C= (p.Pro100=) c.447C= (p.Pro149=) c.378C= (p.Pro126=) | |
| 15 | g.74892705C>G | CA491220327 | MPI | c.390C>G (p.Pro130=) c.240C>G (p.Pro80=) c.*286C>G (n.*286C>G) c.330C>G (p.Pro110=) c.255+1216C>G (n.255+1216C>G) n.421C>G c.348C>G (p.Pro116=) c.351C>G (p.Pro117=) c.354C>G (p.Pro118=) n.499C>G c.300C>G (p.Pro100=) c.447C>G (p.Pro149=) c.378C>G (p.Pro126=) | |
| 15 | g.74892705C>T | CA7662429 | MPI | c.390C>T (p.Pro130=) c.240C>T (p.Pro80=) c.*286C>T (n.*286C>T) c.330C>T (p.Pro110=) c.255+1216C>T (n.255+1216C>T) n.421C>T c.348C>T (p.Pro116=) c.351C>T (p.Pro117=) c.354C>T (p.Pro118=) n.499C>T c.300C>T (p.Pro100=) c.447C>T (p.Pro149=) c.378C>T (p.Pro126=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74892706G>A | CA7662430 | MPI | c.391G>A (p.Asp131Asn) c.241G>A (p.Asp81Asn) c.*287G>A (n.*287G>A) c.331G>A (p.Asp111Asn) c.255+1217G>A (n.255+1217G>A) n.422G>A c.349G>A (p.Asp117Asn) c.352G>A (p.Asp118Asn) c.355G>A (p.Asp119Asn) n.500G>A c.301G>A (p.Asp101Asn) c.448G>A (p.Asp150Asn) c.379G>A (p.Asp127Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.74892706G>C | CA393173419 | MPI | c.391G>C (p.Asp131His) c.241G>C (p.Asp81His) c.*287G>C (n.*287G>C) c.331G>C (p.Asp111His) c.255+1217G>C (n.255+1217G>C) n.422G>C c.349G>C (p.Asp117His) c.352G>C (p.Asp118His) c.355G>C (p.Asp119His) n.500G>C c.301G>C (p.Asp101His) c.448G>C (p.Asp150His) c.379G>C (p.Asp127His) | |
| 15 | g.74892706G= | CA2187896810 | MPI | c.391G= (p.Asp131=) c.241G= (p.Asp81=) c.*287G= (n.*287G=) c.331G= (p.Asp111=) c.255+1217G= (n.255+1217G=) n.422G= c.349G= (p.Asp117=) c.352G= (p.Asp118=) c.355G= (p.Asp119=) n.500G= c.301G= (p.Asp101=) c.448G= (p.Asp150=) c.379G= (p.Asp127=) | |
| 15 | g.74892706G>T | CA393173420 | MPI | c.391G>T (p.Asp131Tyr) c.241G>T (p.Asp81Tyr) c.*287G>T (n.*287G>T) c.331G>T (p.Asp111Tyr) c.255+1217G>T (n.255+1217G>T) n.422G>T c.349G>T (p.Asp117Tyr) c.352G>T (p.Asp118Tyr) c.355G>T (p.Asp119Tyr) n.500G>T c.301G>T (p.Asp101Tyr) c.448G>T (p.Asp150Tyr) c.379G>T (p.Asp127Tyr) | |
| 15 | g.74892707A>C | CA393173421 | MPI | c.392A>C (p.Asp131Ala) c.242A>C (p.Asp81Ala) c.*288A>C (n.*288A>C) c.332A>C (p.Asp111Ala) c.255+1218A>C (n.255+1218A>C) n.423A>C c.350A>C (p.Asp117Ala) c.353A>C (p.Asp118Ala) c.356A>C (p.Asp119Ala) n.501A>C c.302A>C (p.Asp101Ala) c.449A>C (p.Asp150Ala) c.380A>C (p.Asp127Ala) | |
| 15 | g.74892707A>G | CA393173422 | MPI | c.392A>G (p.Asp131Gly) c.242A>G (p.Asp81Gly) c.*288A>G (n.*288A>G) c.332A>G (p.Asp111Gly) c.255+1218A>G (n.255+1218A>G) n.423A>G c.350A>G (p.Asp117Gly) c.353A>G (p.Asp118Gly) c.356A>G (p.Asp119Gly) n.501A>G c.302A>G (p.Asp101Gly) c.449A>G (p.Asp150Gly) c.380A>G (p.Asp127Gly) | gnomAD v4 |
| 15 | g.74892707A>T | CA393173423 | MPI | c.392A>T (p.Asp131Val) c.242A>T (p.Asp81Val) c.*288A>T (n.*288A>T) c.332A>T (p.Asp111Val) c.255+1218A>T (n.255+1218A>T) n.423A>T c.350A>T (p.Asp117Val) c.353A>T (p.Asp118Val) c.356A>T (p.Asp119Val) n.501A>T c.302A>T (p.Asp101Val) c.449A>T (p.Asp150Val) c.380A>T (p.Asp127Val) | |
| 15 | g.74892708T>A | CA393173425 | MPI | c.393T>A (p.Asp131Glu) c.243T>A (p.Asp81Glu) c.*289T>A (n.*289T>A) c.333T>A (p.Asp111Glu) c.255+1219T>A (n.255+1219T>A) n.424T>A c.351T>A (p.Asp117Glu) c.354T>A (p.Asp118Glu) c.357T>A (p.Asp119Glu) n.502T>A c.303T>A (p.Asp101Glu) c.450T>A (p.Asp150Glu) c.381T>A (p.Asp127Glu) | |
| 15 | g.74892708T>C | CA491220331 | MPI | c.393T>C (p.Asp131=) c.243T>C (p.Asp81=) c.*289T>C (n.*289T>C) c.333T>C (p.Asp111=) c.255+1219T>C (n.255+1219T>C) n.424T>C c.351T>C (p.Asp117=) c.354T>C (p.Asp118=) c.357T>C (p.Asp119=) n.502T>C c.303T>C (p.Asp101=) c.450T>C (p.Asp150=) c.381T>C (p.Asp127=) | gnomAD v4 |
| 15 | g.74892708T>G | CA393173424 | MPI | c.393T>G (p.Asp131Glu) c.243T>G (p.Asp81Glu) c.*289T>G (n.*289T>G) c.333T>G (p.Asp111Glu) c.255+1219T>G (n.255+1219T>G) n.424T>G c.351T>G (p.Asp117Glu) c.354T>G (p.Asp118Glu) c.357T>G (p.Asp119Glu) n.502T>G c.303T>G (p.Asp101Glu) c.450T>G (p.Asp150Glu) c.381T>G (p.Asp127Glu) | |
| 15 | g.74892709G>A | CA393173426 | MPI | c.394G>A (p.Ala132Thr) c.244G>A (p.Ala82Thr) c.*290G>A (n.*290G>A) c.334G>A (p.Ala112Thr) c.255+1220G>A (n.255+1220G>A) n.425G>A c.352G>A (p.Ala118Thr) c.355G>A (p.Ala119Thr) c.358G>A (p.Ala120Thr) n.503G>A c.304G>A (p.Ala102Thr) c.451G>A (p.Ala151Thr) c.382G>A (p.Ala128Thr) | |
| 15 | g.74892709G>C | CA393173427 | MPI | c.394G>C (p.Ala132Pro) c.244G>C (p.Ala82Pro) c.*290G>C (n.*290G>C) c.334G>C (p.Ala112Pro) c.255+1220G>C (n.255+1220G>C) n.425G>C c.352G>C (p.Ala118Pro) c.355G>C (p.Ala119Pro) c.358G>C (p.Ala120Pro) n.503G>C c.304G>C (p.Ala102Pro) c.451G>C (p.Ala151Pro) c.382G>C (p.Ala128Pro) | |
| 15 | g.74892709G>T | CA393173428 | MPI | c.394G>T (p.Ala132Ser) c.244G>T (p.Ala82Ser) c.*290G>T (n.*290G>T) c.334G>T (p.Ala112Ser) c.255+1220G>T (n.255+1220G>T) n.425G>T c.352G>T (p.Ala118Ser) c.355G>T (p.Ala119Ser) c.358G>T (p.Ala120Ser) n.503G>T c.304G>T (p.Ala102Ser) c.451G>T (p.Ala151Ser) c.382G>T (p.Ala128Ser) | |
| 15 | g.74892710C>A | CA393173429 | MPI | c.395C>A (p.Ala132Asp) c.245C>A (p.Ala82Asp) c.*291C>A (n.*291C>A) c.335C>A (p.Ala112Asp) c.255+1221C>A (n.255+1221C>A) n.426C>A c.353C>A (p.Ala118Asp) c.356C>A (p.Ala119Asp) c.359C>A (p.Ala120Asp) n.504C>A c.305C>A (p.Ala102Asp) c.452C>A (p.Ala151Asp) c.383C>A (p.Ala128Asp) | |
| 15 | g.74892710C>G | CA393173430 | MPI | c.395C>G (p.Ala132Gly) c.245C>G (p.Ala82Gly) c.*291C>G (n.*291C>G) c.335C>G (p.Ala112Gly) c.255+1221C>G (n.255+1221C>G) n.426C>G c.353C>G (p.Ala118Gly) c.356C>G (p.Ala119Gly) c.359C>G (p.Ala120Gly) n.504C>G c.305C>G (p.Ala102Gly) c.452C>G (p.Ala151Gly) c.383C>G (p.Ala128Gly) | |
| 15 | g.74892710C>T | CA393173431 | MPI | c.395C>T (p.Ala132Val) c.245C>T (p.Ala82Val) c.*291C>T (n.*291C>T) c.335C>T (p.Ala112Val) c.255+1221C>T (n.255+1221C>T) n.426C>T c.353C>T (p.Ala118Val) c.356C>T (p.Ala119Val) c.359C>T (p.Ala120Val) n.504C>T c.305C>T (p.Ala102Val) c.452C>T (p.Ala151Val) c.383C>T (p.Ala128Val) | |
| 15 | g.74892710_74892716delinsCCAACCA | CA2187896813 | MPI | c.395_401delinsCCAACCA (p.Ala132=) c.245_251delinsCCAACCA (p.Ala82=) c.*291_*297delinsCCAACCA (n.*291_*297delinsCCAACCA) c.335_341delinsCCAACCA (p.Ala112=) c.255+1221_255+1227delinsCCAACCA (n.255+1221_255+1227delinsCCAACCA) n.426_432delinsCCAACCA c.353_359delinsCCAACCA (p.Ala118=) c.356_362delinsCCAACCA (p.Ala119=) c.359_365delinsCCAACCA (p.Ala120=) n.504_510delinsCCAACCA c.305_311delinsCCAACCA (p.Ala102=) c.452_458delinsCCAACCA (p.Ala151=) c.383_389delinsCCAACCA (p.Ala128=) | |
| 15 | g.74892711C>A | CA491220332 | MPI | c.396C>A (p.Ala132=) c.246C>A (p.Ala82=) c.*292C>A (n.*292C>A) c.336C>A (p.Ala112=) c.255+1222C>A (n.255+1222C>A) n.427C>A c.354C>A (p.Ala118=) c.357C>A (p.Ala119=) c.360C>A (p.Ala120=) n.505C>A c.306C>A (p.Ala102=) c.453C>A (p.Ala151=) c.384C>A (p.Ala128=) | |
| 15 | g.74892711C>G | CA491220334 | MPI | c.396C>G (p.Ala132=) c.246C>G (p.Ala82=) c.*292C>G (n.*292C>G) c.336C>G (p.Ala112=) c.255+1222C>G (n.255+1222C>G) n.427C>G c.354C>G (p.Ala118=) c.357C>G (p.Ala119=) c.360C>G (p.Ala120=) n.505C>G c.306C>G (p.Ala102=) c.453C>G (p.Ala151=) c.384C>G (p.Ala128=) | |
| 15 | g.74892711C>T | CA491220336 | MPI | c.396C>T (p.Ala132=) c.246C>T (p.Ala82=) c.*292C>T (n.*292C>T) c.336C>T (p.Ala112=) c.255+1222C>T (n.255+1222C>T) n.427C>T c.354C>T (p.Ala118=) c.357C>T (p.Ala119=) c.360C>T (p.Ala120=) n.505C>T c.306C>T (p.Ala102=) c.453C>T (p.Ala151=) c.384C>T (p.Ala128=) | ClinVar dbSNP |
| 15 | g.74892714_74892719del | CA7662431 | MPI | c.399_404del (p.Asn133_His134del) c.249_254del (p.Asn83_His84del) c.*295_*300del (n.*295_*300del) c.339_344del (p.Asn113_His114del) c.255+1225_255+1230del (n.255+1225_255+1230del) n.430_435del c.357_362del (p.Asn119_His120del) c.360_365del (p.Asn120_His121del) c.363_368del (p.Asn121_His122del) n.508_513del c.309_314del (p.Asn103_His104del) c.456_461del (p.Asn152_His153del) c.387_392del (p.Asn129_His130del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74892712A>C | CA393173432 | MPI | c.397A>C (p.Asn133His) c.247A>C (p.Asn83His) c.*293A>C (n.*293A>C) c.337A>C (p.Asn113His) c.255+1223A>C (n.255+1223A>C) n.428A>C c.355A>C (p.Asn119His) c.358A>C (p.Asn120His) c.361A>C (p.Asn121His) n.506A>C c.307A>C (p.Asn103His) c.454A>C (p.Asn152His) c.385A>C (p.Asn129His) | |
| 15 | g.74892712A>G | CA393173433 | MPI | c.397A>G (p.Asn133Asp) c.247A>G (p.Asn83Asp) c.*293A>G (n.*293A>G) c.337A>G (p.Asn113Asp) c.255+1223A>G (n.255+1223A>G) n.428A>G c.355A>G (p.Asn119Asp) c.358A>G (p.Asn120Asp) c.361A>G (p.Asn121Asp) n.506A>G c.307A>G (p.Asn103Asp) c.454A>G (p.Asn152Asp) c.385A>G (p.Asn129Asp) | gnomAD v4 |
| 15 | g.74892712A>T | CA393173434 | MPI | c.397A>T (p.Asn133Tyr) c.247A>T (p.Asn83Tyr) c.*293A>T (n.*293A>T) c.337A>T (p.Asn113Tyr) c.255+1223A>T (n.255+1223A>T) n.428A>T c.355A>T (p.Asn119Tyr) c.358A>T (p.Asn120Tyr) c.361A>T (p.Asn121Tyr) n.506A>T c.307A>T (p.Asn103Tyr) c.454A>T (p.Asn152Tyr) c.385A>T (p.Asn129Tyr) | |
| 15 | g.74892713A= | CA2187896815 | MPI | c.398A= (p.Asn133=) c.248A= (p.Asn83=) c.*294A= (n.*294A=) c.338A= (p.Asn113=) c.255+1224A= (n.255+1224A=) n.429A= c.356A= (p.Asn119=) c.359A= (p.Asn120=) c.362A= (p.Asn121=) n.507A= c.308A= (p.Asn103=) c.455A= (p.Asn152=) c.386A= (p.Asn129=) | |
| 15 | g.74892713A>C | CA393173435 | MPI | c.398A>C (p.Asn133Thr) c.248A>C (p.Asn83Thr) c.*294A>C (n.*294A>C) c.338A>C (p.Asn113Thr) c.255+1224A>C (n.255+1224A>C) n.429A>C c.356A>C (p.Asn119Thr) c.359A>C (p.Asn120Thr) c.362A>C (p.Asn121Thr) n.507A>C c.308A>C (p.Asn103Thr) c.455A>C (p.Asn152Thr) c.386A>C (p.Asn129Thr) | |
| 15 | g.74892713A>G | CA393173436 | MPI | c.398A>G (p.Asn133Ser) c.248A>G (p.Asn83Ser) c.*294A>G (n.*294A>G) c.338A>G (p.Asn113Ser) c.255+1224A>G (n.255+1224A>G) n.429A>G c.356A>G (p.Asn119Ser) c.359A>G (p.Asn120Ser) c.362A>G (p.Asn121Ser) n.507A>G c.308A>G (p.Asn103Ser) c.455A>G (p.Asn152Ser) c.386A>G (p.Asn129Ser) | dbSNP gnomAD v4 |
| 15 | g.74892713A>T | CA393173437 | MPI | c.398A>T (p.Asn133Ile) c.248A>T (p.Asn83Ile) c.*294A>T (n.*294A>T) c.338A>T (p.Asn113Ile) c.255+1224A>T (n.255+1224A>T) n.429A>T c.356A>T (p.Asn119Ile) c.359A>T (p.Asn120Ile) c.362A>T (p.Asn121Ile) n.507A>T c.308A>T (p.Asn103Ile) c.455A>T (p.Asn152Ile) c.386A>T (p.Asn129Ile) | dbSNP |
| 15 | g.74892714C>A | CA393173439 | MPI | c.399C>A (p.Asn133Lys) c.249C>A (p.Asn83Lys) c.*295C>A (n.*295C>A) c.339C>A (p.Asn113Lys) c.255+1225C>A (n.255+1225C>A) n.430C>A c.357C>A (p.Asn119Lys) c.360C>A (p.Asn120Lys) c.363C>A (p.Asn121Lys) n.508C>A c.309C>A (p.Asn103Lys) c.456C>A (p.Asn152Lys) c.387C>A (p.Asn129Lys) | |
| 15 | g.74892714C= | CA2187896818 | MPI | c.399C= (p.Asn133=) c.249C= (p.Asn83=) c.*295C= (n.*295C=) c.339C= (p.Asn113=) c.255+1225C= (n.255+1225C=) n.430C= c.357C= (p.Asn119=) c.360C= (p.Asn120=) c.363C= (p.Asn121=) n.508C= c.309C= (p.Asn103=) c.456C= (p.Asn152=) c.387C= (p.Asn129=) | |
| 15 | g.74892714C>G | CA393173438 | MPI | c.399C>G (p.Asn133Lys) c.249C>G (p.Asn83Lys) c.*295C>G (n.*295C>G) c.339C>G (p.Asn113Lys) c.255+1225C>G (n.255+1225C>G) n.430C>G c.357C>G (p.Asn119Lys) c.360C>G (p.Asn120Lys) c.363C>G (p.Asn121Lys) n.508C>G c.309C>G (p.Asn103Lys) c.456C>G (p.Asn152Lys) c.387C>G (p.Asn129Lys) | |
| 15 | g.74892714C>T | CA491220338 | MPI | c.399C>T (p.Asn133=) c.249C>T (p.Asn83=) c.*295C>T (n.*295C>T) c.339C>T (p.Asn113=) c.255+1225C>T (n.255+1225C>T) n.430C>T c.357C>T (p.Asn119=) c.360C>T (p.Asn120=) c.363C>T (p.Asn121=) n.508C>T c.309C>T (p.Asn103=) c.456C>T (p.Asn152=) c.387C>T (p.Asn129=) | dbSNP |
| 15 | g.74892715C>A | CA393173440 | MPI | c.400C>A (p.His134Asn) c.250C>A (p.His84Asn) c.*296C>A (n.*296C>A) c.340C>A (p.His114Asn) c.255+1226C>A (n.255+1226C>A) n.431C>A c.358C>A (p.His120Asn) c.361C>A (p.His121Asn) c.364C>A (p.His122Asn) n.509C>A c.310C>A (p.His104Asn) c.457C>A (p.His153Asn) c.388C>A (p.His130Asn) | |
| 15 | g.74892715C>G | CA393173441 | MPI | c.400C>G (p.His134Asp) c.250C>G (p.His84Asp) c.*296C>G (n.*296C>G) c.340C>G (p.His114Asp) c.255+1226C>G (n.255+1226C>G) n.431C>G c.358C>G (p.His120Asp) c.361C>G (p.His121Asp) c.364C>G (p.His122Asp) n.509C>G c.310C>G (p.His104Asp) c.457C>G (p.His153Asp) c.388C>G (p.His130Asp) | |
| 15 | g.74892715C>T | CA393173442 | MPI | c.400C>T (p.His134Tyr) c.250C>T (p.His84Tyr) c.*296C>T (n.*296C>T) c.340C>T (p.His114Tyr) c.255+1226C>T (n.255+1226C>T) n.431C>T c.358C>T (p.His120Tyr) c.361C>T (p.His121Tyr) c.364C>T (p.His122Tyr) n.509C>T c.310C>T (p.His104Tyr) c.457C>T (p.His153Tyr) c.388C>T (p.His130Tyr) | |
| 15 | g.74892716A>C | CA393173443 | MPI | c.401A>C (p.His134Pro) c.251A>C (p.His84Pro) c.*297A>C (n.*297A>C) c.341A>C (p.His114Pro) c.255+1227A>C (n.255+1227A>C) n.432A>C c.359A>C (p.His120Pro) c.362A>C (p.His121Pro) c.365A>C (p.His122Pro) n.510A>C c.311A>C (p.His104Pro) c.458A>C (p.His153Pro) c.389A>C (p.His130Pro) | |
| 15 | g.74892716A>G | CA393173444 | MPI | c.401A>G (p.His134Arg) c.251A>G (p.His84Arg) c.*297A>G (n.*297A>G) c.341A>G (p.His114Arg) c.255+1227A>G (n.255+1227A>G) n.432A>G c.359A>G (p.His120Arg) c.362A>G (p.His121Arg) c.365A>G (p.His122Arg) n.510A>G c.311A>G (p.His104Arg) c.458A>G (p.His153Arg) c.389A>G (p.His130Arg) | |
| 15 | g.74892716A>T | CA393173445 | MPI | c.401A>T (p.His134Leu) c.251A>T (p.His84Leu) c.*297A>T (n.*297A>T) c.341A>T (p.His114Leu) c.255+1227A>T (n.255+1227A>T) n.432A>T c.359A>T (p.His120Leu) c.362A>T (p.His121Leu) c.365A>T (p.His122Leu) n.510A>T c.311A>T (p.His104Leu) c.458A>T (p.His153Leu) c.389A>T (p.His130Leu) | gnomAD v4 |
| 15 | g.74892717C>A | CA393173446 | MPI | c.402C>A (p.His134Gln) c.252C>A (p.His84Gln) c.*298C>A (n.*298C>A) c.342C>A (p.His114Gln) c.255+1228C>A (n.255+1228C>A) n.433C>A c.360C>A (p.His120Gln) c.363C>A (p.His121Gln) c.366C>A (p.His122Gln) n.511C>A c.312C>A (p.His104Gln) c.459C>A (p.His153Gln) c.390C>A (p.His130Gln) | |
| 15 | g.74892717C>G | CA393173447 | MPI | c.402C>G (p.His134Gln) c.252C>G (p.His84Gln) c.*298C>G (n.*298C>G) c.342C>G (p.His114Gln) c.255+1228C>G (n.255+1228C>G) n.433C>G c.360C>G (p.His120Gln) c.363C>G (p.His121Gln) c.366C>G (p.His122Gln) n.511C>G c.312C>G (p.His104Gln) c.459C>G (p.His153Gln) c.390C>G (p.His130Gln) | |
| 15 | g.74892717C>T | CA491220341 | MPI | c.402C>T (p.His134=) c.252C>T (p.His84=) c.*298C>T (n.*298C>T) c.342C>T (p.His114=) c.255+1228C>T (n.255+1228C>T) n.433C>T c.360C>T (p.His120=) c.363C>T (p.His121=) c.366C>T (p.His122=) n.511C>T c.312C>T (p.His104=) c.459C>T (p.His153=) c.390C>T (p.His130=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.74892718A>C | CA393173448 | MPI | c.403A>C (p.Lys135Gln) c.253A>C (p.Lys85Gln) c.*299A>C (n.*299A>C) c.343A>C (p.Lys115Gln) c.255+1229A>C (n.255+1229A>C) n.434A>C c.361A>C (p.Lys121Gln) c.364A>C (p.Lys122Gln) c.367A>C (p.Lys123Gln) n.512A>C c.313A>C (p.Lys105Gln) c.460A>C (p.Lys154Gln) c.391A>C (p.Lys131Gln) | |
| 15 | g.74892718A>G | CA393173449 | MPI | c.403A>G (p.Lys135Glu) c.253A>G (p.Lys85Glu) c.*299A>G (n.*299A>G) c.343A>G (p.Lys115Glu) c.255+1229A>G (n.255+1229A>G) n.434A>G c.361A>G (p.Lys121Glu) c.364A>G (p.Lys122Glu) c.367A>G (p.Lys123Glu) n.512A>G c.313A>G (p.Lys105Glu) c.460A>G (p.Lys154Glu) c.391A>G (p.Lys131Glu) | |
| 15 | g.74892718A>T | CA393173450 | MPI | c.403A>T (p.Lys135Ter) c.253A>T (p.Lys85Ter) c.*299A>T (n.*299A>T) c.343A>T (p.Lys115Ter) c.255+1229A>T (n.255+1229A>T) n.434A>T c.361A>T (p.Lys121Ter) c.364A>T (p.Lys122Ter) c.367A>T (p.Lys123Ter) n.512A>T c.313A>T (p.Lys105Ter) c.460A>T (p.Lys154Ter) c.391A>T (p.Lys131Ter) | |
| 15 | g.74892719A>C | CA393173451 | MPI | c.404A>C (p.Lys135Thr) c.254A>C (p.Lys85Thr) c.*300A>C (n.*300A>C) c.344A>C (p.Lys115Thr) c.255+1230A>C (n.255+1230A>C) n.435A>C c.362A>C (p.Lys121Thr) c.365A>C (p.Lys122Thr) c.368A>C (p.Lys123Thr) n.513A>C c.314A>C (p.Lys105Thr) c.461A>C (p.Lys154Thr) c.392A>C (p.Lys131Thr) | |
| 15 | g.74892719A>G | CA393173452 | MPI | c.404A>G (p.Lys135Arg) c.254A>G (p.Lys85Arg) c.*300A>G (n.*300A>G) c.344A>G (p.Lys115Arg) c.255+1230A>G (n.255+1230A>G) n.435A>G c.362A>G (p.Lys121Arg) c.365A>G (p.Lys122Arg) c.368A>G (p.Lys123Arg) n.513A>G c.314A>G (p.Lys105Arg) c.461A>G (p.Lys154Arg) c.392A>G (p.Lys131Arg) | |
| 15 | g.74892719A>T | CA393173453 | MPI | c.404A>T (p.Lys135Met) c.254A>T (p.Lys85Met) c.*300A>T (n.*300A>T) c.344A>T (p.Lys115Met) c.255+1230A>T (n.255+1230A>T) n.435A>T c.362A>T (p.Lys121Met) c.365A>T (p.Lys122Met) c.368A>T (p.Lys123Met) n.513A>T c.314A>T (p.Lys105Met) c.461A>T (p.Lys154Met) c.392A>T (p.Lys131Met) | |
| 15 | g.74892720G>A | CA491220343 | MPI | c.405G>A (p.Lys135=) c.255G>A (p.Lys85=) c.*301G>A (n.*301G>A) c.345G>A (p.Lys115=) c.255+1231G>A (n.255+1231G>A) n.436G>A c.363G>A (p.Lys121=) c.366G>A (p.Lys122=) c.369G>A (p.Lys123=) n.514G>A c.315G>A (p.Lys105=) c.462G>A (p.Lys154=) c.393G>A (p.Lys131=) | |
| 15 | g.74892720G>C | CA393173455 | MPI | c.405G>C (p.Lys135Asn) c.255G>C (p.Lys85Asn) c.*301G>C (n.*301G>C) c.345G>C (p.Lys115Asn) c.255+1231G>C (n.255+1231G>C) n.436G>C c.363G>C (p.Lys121Asn) c.366G>C (p.Lys122Asn) c.369G>C (p.Lys123Asn) n.514G>C c.315G>C (p.Lys105Asn) c.462G>C (p.Lys154Asn) c.393G>C (p.Lys131Asn) | |
| 15 | g.74892720G>T | CA393173454 | MPI | c.405G>T (p.Lys135Asn) c.255G>T (p.Lys85Asn) c.*301G>T (n.*301G>T) c.345G>T (p.Lys115Asn) c.255+1231G>T (n.255+1231G>T) n.436G>T c.363G>T (p.Lys121Asn) c.366G>T (p.Lys122Asn) c.369G>T (p.Lys123Asn) n.514G>T c.315G>T (p.Lys105Asn) c.462G>T (p.Lys154Asn) c.393G>T (p.Lys131Asn) | |
| 15 | g.74892721C>A | CA393173456 | MPI | c.406C>A (p.Pro136Thr) c.256C>A (p.Pro86Thr) c.*302C>A (n.*302C>A) c.346C>A (p.Pro116Thr) c.255+1232C>A (n.255+1232C>A) n.437C>A c.364C>A (p.Pro122Thr) c.367C>A (p.Pro123Thr) c.370C>A (p.Pro124Thr) n.515C>A c.316C>A (p.Pro106Thr) c.463C>A (p.Pro155Thr) c.394C>A (p.Pro132Thr) | |
| 15 | g.74892721C= | CA2187896821 | MPI | c.406C= (p.Pro136=) c.256C= (p.Pro86=) c.*302C= (n.*302C=) c.346C= (p.Pro116=) c.255+1232C= (n.255+1232C=) n.437C= c.364C= (p.Pro122=) c.367C= (p.Pro123=) c.370C= (p.Pro124=) n.515C= c.316C= (p.Pro106=) c.463C= (p.Pro155=) c.394C= (p.Pro132=) | |
| 15 | g.74892721C>G | CA393173457 | MPI | c.406C>G (p.Pro136Ala) c.256C>G (p.Pro86Ala) c.*302C>G (n.*302C>G) c.346C>G (p.Pro116Ala) c.255+1232C>G (n.255+1232C>G) n.437C>G c.364C>G (p.Pro122Ala) c.367C>G (p.Pro123Ala) c.370C>G (p.Pro124Ala) n.515C>G c.316C>G (p.Pro106Ala) c.463C>G (p.Pro155Ala) c.394C>G (p.Pro132Ala) | |
| 15 | g.74892721C>T | CA7662432 | MPI | c.406C>T (p.Pro136Ser) c.256C>T (p.Pro86Ser) c.*302C>T (n.*302C>T) c.346C>T (p.Pro116Ser) c.255+1232C>T (n.255+1232C>T) n.437C>T c.364C>T (p.Pro122Ser) c.367C>T (p.Pro123Ser) c.370C>T (p.Pro124Ser) n.515C>T c.316C>T (p.Pro106Ser) c.463C>T (p.Pro155Ser) c.394C>T (p.Pro132Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74892722C>A | CA393173458 | MPI | c.407C>A (p.Pro136Gln) c.257C>A (p.Pro86Gln) c.*303C>A (n.*303C>A) c.347C>A (p.Pro116Gln) c.255+1233C>A (n.255+1233C>A) n.438C>A c.365C>A (p.Pro122Gln) c.368C>A (p.Pro123Gln) c.371C>A (p.Pro124Gln) n.516C>A c.317C>A (p.Pro106Gln) c.464C>A (p.Pro155Gln) c.395C>A (p.Pro132Gln) | gnomAD v4 |
| 15 | g.74892722C>G | CA393173459 | MPI | c.407C>G (p.Pro136Arg) c.257C>G (p.Pro86Arg) c.*303C>G (n.*303C>G) c.347C>G (p.Pro116Arg) c.255+1233C>G (n.255+1233C>G) n.438C>G c.365C>G (p.Pro122Arg) c.368C>G (p.Pro123Arg) c.371C>G (p.Pro124Arg) n.516C>G c.317C>G (p.Pro106Arg) c.464C>G (p.Pro155Arg) c.395C>G (p.Pro132Arg) | |
| 15 | g.74892722C>T | CA393173460 | MPI | c.407C>T (p.Pro136Leu) c.257C>T (p.Pro86Leu) c.*303C>T (n.*303C>T) c.347C>T (p.Pro116Leu) c.255+1233C>T (n.255+1233C>T) n.438C>T c.365C>T (p.Pro122Leu) c.368C>T (p.Pro123Leu) c.371C>T (p.Pro124Leu) n.516C>T c.317C>T (p.Pro106Leu) c.464C>T (p.Pro155Leu) c.395C>T (p.Pro132Leu) | |
| 15 | g.74892723A>C | CA491220346 | MPI | c.408A>C (p.Pro136=) c.258A>C (p.Pro86=) c.*304A>C (n.*304A>C) c.348A>C (p.Pro116=) c.255+1234A>C (n.255+1234A>C) n.439A>C c.366A>C (p.Pro122=) c.369A>C (p.Pro123=) c.372A>C (p.Pro124=) n.517A>C c.318A>C (p.Pro106=) c.465A>C (p.Pro155=) c.396A>C (p.Pro132=) | |
| 15 | g.74892723A>G | CA491220347 | MPI | c.408A>G (p.Pro136=) c.258A>G (p.Pro86=) c.*304A>G (n.*304A>G) c.348A>G (p.Pro116=) c.255+1234A>G (n.255+1234A>G) n.439A>G c.366A>G (p.Pro122=) c.369A>G (p.Pro123=) c.372A>G (p.Pro124=) n.517A>G c.318A>G (p.Pro106=) c.465A>G (p.Pro155=) c.396A>G (p.Pro132=) | |
| 15 | g.74892723A>T | CA491220349 | MPI | c.408A>T (p.Pro136=) c.258A>T (p.Pro86=) c.*304A>T (n.*304A>T) c.348A>T (p.Pro116=) c.255+1234A>T (n.255+1234A>T) n.439A>T c.366A>T (p.Pro122=) c.369A>T (p.Pro123=) c.372A>T (p.Pro124=) n.517A>T c.318A>T (p.Pro106=) c.465A>T (p.Pro155=) c.396A>T (p.Pro132=) | |
| 15 | g.74892724G>A | CA393173461 | MPI | c.409G>A (p.Glu137Lys) c.259G>A (p.Glu87Lys) c.*305G>A (n.*305G>A) c.349G>A (p.Glu117Lys) c.255+1235G>A (n.255+1235G>A) n.440G>A c.367G>A (p.Glu123Lys) c.370G>A (p.Glu124Lys) c.373G>A (p.Glu125Lys) n.518G>A c.319G>A (p.Glu107Lys) c.466G>A (p.Glu156Lys) c.397G>A (p.Glu133Lys) | |
| 15 | g.74892724G>C | CA393173462 | MPI | c.409G>C (p.Glu137Gln) c.259G>C (p.Glu87Gln) c.*305G>C (n.*305G>C) c.349G>C (p.Glu117Gln) c.255+1235G>C (n.255+1235G>C) n.440G>C c.367G>C (p.Glu123Gln) c.370G>C (p.Glu124Gln) c.373G>C (p.Glu125Gln) n.518G>C c.319G>C (p.Glu107Gln) c.466G>C (p.Glu156Gln) c.397G>C (p.Glu133Gln) | gnomAD v4 COSMIC |
| 15 | g.74892724G>T | CA393173463 | MPI | c.409G>T (p.Glu137Ter) c.259G>T (p.Glu87Ter) c.*305G>T (n.*305G>T) c.349G>T (p.Glu117Ter) c.255+1235G>T (n.255+1235G>T) n.440G>T c.367G>T (p.Glu123Ter) c.370G>T (p.Glu124Ter) c.373G>T (p.Glu125Ter) n.518G>T c.319G>T (p.Glu107Ter) c.466G>T (p.Glu156Ter) c.397G>T (p.Glu133Ter) | |
| 15 | g.74892725A>C | CA393173464 | MPI | c.410A>C (p.Glu137Ala) c.260A>C (p.Glu87Ala) c.*306A>C (n.*306A>C) c.350A>C (p.Glu117Ala) c.255+1236A>C (n.255+1236A>C) n.441A>C c.368A>C (p.Glu123Ala) c.371A>C (p.Glu124Ala) c.374A>C (p.Glu125Ala) n.519A>C c.320A>C (p.Glu107Ala) c.467A>C (p.Glu156Ala) c.398A>C (p.Glu133Ala) | |
| 15 | g.74892725A>G | CA393173465 | MPI | c.410A>G (p.Glu137Gly) c.260A>G (p.Glu87Gly) c.*306A>G (n.*306A>G) c.350A>G (p.Glu117Gly) c.255+1236A>G (n.255+1236A>G) n.441A>G c.368A>G (p.Glu123Gly) c.371A>G (p.Glu124Gly) c.374A>G (p.Glu125Gly) n.519A>G c.320A>G (p.Glu107Gly) c.467A>G (p.Glu156Gly) c.398A>G (p.Glu133Gly) | |
| 15 | g.74892725A>T | CA393173466 | MPI | c.410A>T (p.Glu137Val) c.260A>T (p.Glu87Val) c.*306A>T (n.*306A>T) c.350A>T (p.Glu117Val) c.255+1236A>T (n.255+1236A>T) n.441A>T c.368A>T (p.Glu123Val) c.371A>T (p.Glu124Val) c.374A>T (p.Glu125Val) n.519A>T c.320A>T (p.Glu107Val) c.467A>T (p.Glu156Val) c.398A>T (p.Glu133Val) | |
| 15 | g.74892726G>A | CA491220350 | MPI | c.411G>A (p.Glu137=) c.261G>A (p.Glu87=) c.*307G>A (n.*307G>A) c.351G>A (p.Glu117=) c.255+1237G>A (n.255+1237G>A) n.442G>A c.369G>A (p.Glu123=) c.372G>A (p.Glu124=) c.375G>A (p.Glu125=) n.520G>A c.321G>A (p.Glu107=) c.468G>A (p.Glu156=) c.399G>A (p.Glu133=) | |
| 15 | g.74892726G>C | CA393173467 | MPI | c.411G>C (p.Glu137Asp) c.261G>C (p.Glu87Asp) c.*307G>C (n.*307G>C) c.351G>C (p.Glu117Asp) c.255+1237G>C (n.255+1237G>C) n.442G>C c.369G>C (p.Glu123Asp) c.372G>C (p.Glu124Asp) c.375G>C (p.Glu125Asp) n.520G>C c.321G>C (p.Glu107Asp) c.468G>C (p.Glu156Asp) c.399G>C (p.Glu133Asp) | COSMIC |
| 15 | g.74892726G>T | CA393173468 | MPI | c.411G>T (p.Glu137Asp) c.261G>T (p.Glu87Asp) c.*307G>T (n.*307G>T) c.351G>T (p.Glu117Asp) c.255+1237G>T (n.255+1237G>T) n.442G>T c.369G>T (p.Glu123Asp) c.372G>T (p.Glu124Asp) c.375G>T (p.Glu125Asp) n.520G>T c.321G>T (p.Glu107Asp) c.468G>T (p.Glu156Asp) c.399G>T (p.Glu133Asp) | |
| 15 | g.74892727A>C | CA393173470 | MPI | c.412A>C (p.Met138Leu) c.262A>C (p.Met88Leu) c.*308A>C (n.*308A>C) c.352A>C (p.Met118Leu) c.255+1238A>C (n.255+1238A>C) n.443A>C c.370A>C (p.Met124Leu) c.373A>C (p.Met125Leu) c.376A>C (p.Met126Leu) n.521A>C c.322A>C (p.Met108Leu) c.469A>C (p.Met157Leu) c.400A>C (p.Met134Leu) | |
| 15 | g.74892727A>G | CA393173471 | MPI | c.412A>G (p.Met138Val) c.262A>G (p.Met88Val) c.*308A>G (n.*308A>G) c.352A>G (p.Met118Val) c.255+1238A>G (n.255+1238A>G) n.443A>G c.370A>G (p.Met124Val) c.373A>G (p.Met125Val) c.376A>G (p.Met126Val) n.521A>G c.322A>G (p.Met108Val) c.469A>G (p.Met157Val) c.400A>G (p.Met134Val) | |
| 15 | g.74892727A>T | CA393173469 | MPI | c.412A>T (p.Met138Leu) c.262A>T (p.Met88Leu) c.*308A>T (n.*308A>T) c.352A>T (p.Met118Leu) c.255+1238A>T (n.255+1238A>T) n.443A>T c.370A>T (p.Met124Leu) c.373A>T (p.Met125Leu) c.376A>T (p.Met126Leu) n.521A>T c.322A>T (p.Met108Leu) c.469A>T (p.Met157Leu) c.400A>T (p.Met134Leu) | |
| 15 | g.74892728T>A | CA393173472 | MPI | c.413T>A (p.Met138Lys) c.263T>A (p.Met88Lys) c.*309T>A (n.*309T>A) c.353T>A (p.Met118Lys) c.255+1239T>A (n.255+1239T>A) n.444T>A c.371T>A (p.Met124Lys) c.374T>A (p.Met125Lys) c.377T>A (p.Met126Lys) n.522T>A c.323T>A (p.Met108Lys) c.470T>A (p.Met157Lys) c.401T>A (p.Met134Lys) | |
| 15 | g.74892728T>C | CA257212 | MPI | c.413T>C (p.Met138Thr) c.263T>C (p.Met88Thr) c.*309T>C (n.*309T>C) c.353T>C (p.Met118Thr) c.255+1239T>C (n.255+1239T>C) n.444T>C c.371T>C (p.Met124Thr) c.374T>C (p.Met125Thr) c.377T>C (p.Met126Thr) n.522T>C c.323T>C (p.Met108Thr) c.470T>C (p.Met157Thr) c.401T>C (p.Met134Thr) | ClinVar dbSNP gnomAD v4 |
| 15 | g.74892728T>G | CA393173473 | MPI | c.413T>G (p.Met138Arg) c.263T>G (p.Met88Arg) c.*309T>G (n.*309T>G) c.353T>G (p.Met118Arg) c.255+1239T>G (n.255+1239T>G) n.444T>G c.371T>G (p.Met124Arg) c.374T>G (p.Met125Arg) c.377T>G (p.Met126Arg) n.522T>G c.323T>G (p.Met108Arg) c.470T>G (p.Met157Arg) c.401T>G (p.Met134Arg) | |
| 15 | g.74892728T= | CA2187896823 | MPI | c.413T= (p.Met138=) c.263T= (p.Met88=) c.*309T= (n.*309T=) c.353T= (p.Met118=) c.255+1239T= (n.255+1239T=) n.444T= c.371T= (p.Met124=) c.374T= (p.Met125=) c.377T= (p.Met126=) n.522T= c.323T= (p.Met108=) c.470T= (p.Met157=) c.401T= (p.Met134=) | |
| 15 | g.74892729G>A | CA7662433 | MPI | c.414G>A (p.Met138Ile) c.264G>A (p.Met88Ile) c.*310G>A (n.*310G>A) c.354G>A (p.Met118Ile) c.255+1240G>A (n.255+1240G>A) n.445G>A c.372G>A (p.Met124Ile) c.375G>A (p.Met125Ile) c.378G>A (p.Met126Ile) n.523G>A c.324G>A (p.Met108Ile) c.471G>A (p.Met157Ile) c.402G>A (p.Met134Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74892729G>C | CA393173474 | MPI | c.414G>C (p.Met138Ile) c.264G>C (p.Met88Ile) c.*310G>C (n.*310G>C) c.354G>C (p.Met118Ile) c.255+1240G>C (n.255+1240G>C) n.445G>C c.372G>C (p.Met124Ile) c.375G>C (p.Met125Ile) c.378G>C (p.Met126Ile) n.523G>C c.324G>C (p.Met108Ile) c.471G>C (p.Met157Ile) c.402G>C (p.Met134Ile) | |
| 15 | g.74892729G= | CA2187896828 | MPI | c.414G= (p.Met138=) c.264G= (p.Met88=) c.*310G= (n.*310G=) c.354G= (p.Met118=) c.255+1240G= (n.255+1240G=) n.445G= c.372G= (p.Met124=) c.375G= (p.Met125=) c.378G= (p.Met126=) n.523G= c.324G= (p.Met108=) c.471G= (p.Met157=) c.402G= (p.Met134=) | |
| 15 | g.74892729G>T | CA393173475 | MPI | c.414G>T (p.Met138Ile) c.264G>T (p.Met88Ile) c.*310G>T (n.*310G>T) c.354G>T (p.Met118Ile) c.255+1240G>T (n.255+1240G>T) n.445G>T c.372G>T (p.Met124Ile) c.375G>T (p.Met125Ile) c.378G>T (p.Met126Ile) n.523G>T c.324G>T (p.Met108Ile) c.471G>T (p.Met157Ile) c.402G>T (p.Met134Ile) | |
| 15 | g.74892730G>A | CA393173476 | MPI | c.415G>A (p.Ala139Thr) c.265G>A (p.Ala89Thr) c.*311G>A (n.*311G>A) c.355G>A (p.Ala119Thr) c.255+1241G>A (n.255+1241G>A) n.446G>A c.373G>A (p.Ala125Thr) c.376G>A (p.Ala126Thr) c.379G>A (p.Ala127Thr) n.524G>A c.325G>A (p.Ala109Thr) c.472G>A (p.Ala158Thr) c.403G>A (p.Ala135Thr) | |
| 15 | g.74892730G>C | CA393173477 | MPI | c.415G>C (p.Ala139Pro) c.265G>C (p.Ala89Pro) c.*311G>C (n.*311G>C) c.355G>C (p.Ala119Pro) c.255+1241G>C (n.255+1241G>C) n.446G>C c.373G>C (p.Ala125Pro) c.376G>C (p.Ala126Pro) c.379G>C (p.Ala127Pro) n.524G>C c.325G>C (p.Ala109Pro) c.472G>C (p.Ala158Pro) c.403G>C (p.Ala135Pro) | |
| 15 | g.74892730G>T | CA393173478 | MPI | c.415G>T (p.Ala139Ser) c.265G>T (p.Ala89Ser) c.*311G>T (n.*311G>T) c.355G>T (p.Ala119Ser) c.255+1241G>T (n.255+1241G>T) n.446G>T c.373G>T (p.Ala125Ser) c.376G>T (p.Ala126Ser) c.379G>T (p.Ala127Ser) n.524G>T c.325G>T (p.Ala109Ser) c.472G>T (p.Ala158Ser) c.403G>T (p.Ala135Ser) | |
| 15 | g.74892731C>A | CA393173479 | MPI | c.416C>A (p.Ala139Asp) c.266C>A (p.Ala89Asp) c.*312C>A (n.*312C>A) c.356C>A (p.Ala119Asp) c.255+1242C>A (n.255+1242C>A) n.447C>A c.374C>A (p.Ala125Asp) c.377C>A (p.Ala126Asp) c.380C>A (p.Ala127Asp) n.525C>A c.326C>A (p.Ala109Asp) c.473C>A (p.Ala158Asp) c.404C>A (p.Ala135Asp) | |
| 15 | g.74892731C>G | CA393173480 | MPI | c.416C>G (p.Ala139Gly) c.266C>G (p.Ala89Gly) c.*312C>G (n.*312C>G) c.356C>G (p.Ala119Gly) c.255+1242C>G (n.255+1242C>G) n.447C>G c.374C>G (p.Ala125Gly) c.377C>G (p.Ala126Gly) c.380C>G (p.Ala127Gly) n.525C>G c.326C>G (p.Ala109Gly) c.473C>G (p.Ala158Gly) c.404C>G (p.Ala135Gly) | |
| 15 | g.74892731C>T | CA393173481 | MPI | c.416C>T (p.Ala139Val) c.266C>T (p.Ala89Val) c.*312C>T (n.*312C>T) c.356C>T (p.Ala119Val) c.255+1242C>T (n.255+1242C>T) n.447C>T c.374C>T (p.Ala125Val) c.377C>T (p.Ala126Val) c.380C>T (p.Ala127Val) n.525C>T c.326C>T (p.Ala109Val) c.473C>T (p.Ala158Val) c.404C>T (p.Ala135Val) | |
| 15 | g.74892732dup | CA2629529443 | MPI | c.417dup (p.Ile140HisfsTer16) c.267dup (p.Ile90HisfsTer16) c.*313dup (n.*313dup) c.357dup (p.Ile120HisfsTer16) c.255+1243dup (n.255+1243dup) n.448dup c.375dup (p.Ile126HisfsTer16) c.378dup (p.Ile127HisfsTer16) c.357dup c.381dup (p.Ile128HisfsTer16) n.526dup c.327dup (p.Ile110HisfsTer16) c.474dup (p.Ile159HisfsTer16) c.405dup (p.Ile136HisfsTer16) | gnomAD v4 |
| 15 | g.74892732C>A | CA491220355 | MPI | c.417C>A (p.Ala139=) c.267C>A (p.Ala89=) c.*313C>A (n.*313C>A) c.357C>A (p.Ala119=) c.255+1243C>A (n.255+1243C>A) n.448C>A c.375C>A (p.Ala125=) c.378C>A (p.Ala126=) c.381C>A (p.Ala127=) n.526C>A c.327C>A (p.Ala109=) c.474C>A (p.Ala158=) c.405C>A (p.Ala135=) | |
| 15 | g.74892732C= | CA2187896830 | MPI | c.417C= (p.Ala139=) c.267C= (p.Ala89=) c.*313C= (n.*313C=) c.357C= (p.Ala119=) c.255+1243C= (n.255+1243C=) n.448C= c.375C= (p.Ala125=) c.378C= (p.Ala126=) c.381C= (p.Ala127=) n.526C= c.327C= (p.Ala109=) c.474C= (p.Ala158=) c.405C= (p.Ala135=) | |
| 15 | g.74892732C>G | CA491220357 | MPI | c.417C>G (p.Ala139=) c.267C>G (p.Ala89=) c.*313C>G (n.*313C>G) c.357C>G (p.Ala119=) c.255+1243C>G (n.255+1243C>G) n.448C>G c.375C>G (p.Ala125=) c.378C>G (p.Ala126=) c.381C>G (p.Ala127=) n.526C>G c.327C>G (p.Ala109=) c.474C>G (p.Ala158=) c.405C>G (p.Ala135=) | |
| 15 | g.74892732C>T | CA7662434 | MPI | c.417C>T (p.Ala139=) c.267C>T (p.Ala89=) c.*313C>T (n.*313C>T) c.357C>T (p.Ala119=) c.255+1243C>T (n.255+1243C>T) n.448C>T c.375C>T (p.Ala125=) c.378C>T (p.Ala126=) c.381C>T (p.Ala127=) n.526C>T c.327C>T (p.Ala109=) c.474C>T (p.Ala158=) c.405C>T (p.Ala135=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74892733A= | CA2187896832 | MPI | c.418A= (p.Ile140=) c.268A= (p.Ile90=) c.*314A= (n.*314A=) c.358A= (p.Ile120=) c.255+1244A= (n.255+1244A=) n.449A= c.376A= (p.Ile126=) c.379A= (p.Ile127=) c.358A= c.382A= (p.Ile128=) n.527A= c.328A= (p.Ile110=) c.475A= (p.Ile159=) c.406A= (p.Ile136=) | |
| 15 | g.74892733A>C | CA393173483 | MPI | c.418A>C (p.Ile140Leu) c.268A>C (p.Ile90Leu) c.*314A>C (n.*314A>C) c.358A>C (p.Ile120Leu) c.255+1244A>C (n.255+1244A>C) n.449A>C c.376A>C (p.Ile126Leu) c.379A>C (p.Ile127Leu) c.358A>C c.382A>C (p.Ile128Leu) n.527A>C c.328A>C (p.Ile110Leu) c.475A>C (p.Ile159Leu) c.406A>C (p.Ile136Leu) | |
| 15 | g.74892733A>G | CA272823200 | MPI | c.418A>G (p.Ile140Val) c.268A>G (p.Ile90Val) c.*314A>G (n.*314A>G) c.358A>G (p.Ile120Val) c.255+1244A>G (n.255+1244A>G) n.449A>G c.376A>G (p.Ile126Val) c.379A>G (p.Ile127Val) c.358A>G c.382A>G (p.Ile128Val) n.527A>G c.328A>G (p.Ile110Val) c.475A>G (p.Ile159Val) c.406A>G (p.Ile136Val) | dbSNP gnomAD v4 |
| 15 | g.74892733A>T | CA393173482 | MPI | c.418A>T (p.Ile140Phe) c.268A>T (p.Ile90Phe) c.*314A>T (n.*314A>T) c.358A>T (p.Ile120Phe) c.255+1244A>T (n.255+1244A>T) n.449A>T c.376A>T (p.Ile126Phe) c.379A>T (p.Ile127Phe) c.358A>T c.382A>T (p.Ile128Phe) n.527A>T c.328A>T (p.Ile110Phe) c.475A>T (p.Ile159Phe) c.406A>T (p.Ile136Phe) | |
| 15 | g.74892734T>A | CA393173484 | MPI | c.419T>A (p.Ile140Asn) c.269T>A (p.Ile90Asn) c.*315T>A (n.*315T>A) c.359T>A (p.Ile120Asn) c.255+1245T>A (n.255+1245T>A) n.450T>A c.377T>A (p.Ile126Asn) c.380T>A (p.Ile127Asn) c.383T>A (p.Ile128Asn) n.528T>A c.329T>A (p.Ile110Asn) c.476T>A (p.Ile159Asn) c.407T>A (p.Ile136Asn) | |
| 15 | g.74892734T>C | CA7662435 | MPI | c.419T>C (p.Ile140Thr) c.269T>C (p.Ile90Thr) c.*315T>C (n.*315T>C) c.359T>C (p.Ile120Thr) c.255+1245T>C (n.255+1245T>C) n.450T>C c.377T>C (p.Ile126Thr) c.380T>C (p.Ile127Thr) c.383T>C (p.Ile128Thr) n.528T>C c.329T>C (p.Ile110Thr) c.476T>C (p.Ile159Thr) c.407T>C (p.Ile136Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74892734T>G | CA393173485 | MPI | c.419T>G (p.Ile140Ser) c.269T>G (p.Ile90Ser) c.*315T>G (n.*315T>G) c.359T>G (p.Ile120Ser) c.255+1245T>G (n.255+1245T>G) n.450T>G c.377T>G (p.Ile126Ser) c.380T>G (p.Ile127Ser) c.383T>G (p.Ile128Ser) n.528T>G c.329T>G (p.Ile110Ser) c.476T>G (p.Ile159Ser) c.407T>G (p.Ile136Ser) | |
| 15 | g.74892734T= | CA2187896835 | MPI | c.419T= (p.Ile140=) c.269T= (p.Ile90=) c.*315T= (n.*315T=) c.359T= (p.Ile120=) c.255+1245T= (n.255+1245T=) n.450T= c.377T= (p.Ile126=) c.380T= (p.Ile127=) c.383T= (p.Ile128=) n.528T= c.329T= (p.Ile110=) c.476T= (p.Ile159=) c.407T= (p.Ile136=) | |
| 15 | g.74892735T>A | CA491220358 | MPI | c.420T>A (p.Ile140=) c.270T>A (p.Ile90=) c.*316T>A (n.*316T>A) c.360T>A (p.Ile120=) c.255+1246T>A (n.255+1246T>A) n.451T>A c.378T>A (p.Ile126=) c.381T>A (p.Ile127=) c.384T>A (p.Ile128=) n.529T>A c.330T>A (p.Ile110=) c.477T>A (p.Ile159=) c.408T>A (p.Ile136=) | |
| 15 | g.74892735T>C | CA491220359 | MPI | c.420T>C (p.Ile140=) c.270T>C (p.Ile90=) c.*316T>C (n.*316T>C) c.360T>C (p.Ile120=) c.255+1246T>C (n.255+1246T>C) n.451T>C c.378T>C (p.Ile126=) c.381T>C (p.Ile127=) c.384T>C (p.Ile128=) n.529T>C c.330T>C (p.Ile110=) c.477T>C (p.Ile159=) c.408T>C (p.Ile136=) | |
| 15 | g.74892735T>G | CA393173486 | MPI | c.420T>G (p.Ile140Met) c.270T>G (p.Ile90Met) c.*316T>G (n.*316T>G) c.360T>G (p.Ile120Met) c.255+1246T>G (n.255+1246T>G) n.451T>G c.378T>G (p.Ile126Met) c.381T>G (p.Ile127Met) c.384T>G (p.Ile128Met) n.529T>G c.330T>G (p.Ile110Met) c.477T>G (p.Ile159Met) c.408T>G (p.Ile136Met) | |
| 15 | g.74892736G>A | CA393173487 | MPI | c.421G>A (p.Ala141Thr) c.271G>A (p.Ala91Thr) c.*317G>A (n.*317G>A) c.361G>A (p.Ala121Thr) c.255+1247G>A (n.255+1247G>A) n.452G>A c.379G>A (p.Ala127Thr) c.382G>A (p.Ala128Thr) c.385G>A (p.Ala129Thr) n.530G>A c.331G>A (p.Ala111Thr) c.478G>A (p.Ala160Thr) c.409G>A (p.Ala137Thr) | COSMIC |
| 15 | g.74892736G>C | CA393173488 | MPI | c.421G>C (p.Ala141Pro) c.271G>C (p.Ala91Pro) c.*317G>C (n.*317G>C) c.361G>C (p.Ala121Pro) c.255+1247G>C (n.255+1247G>C) n.452G>C c.379G>C (p.Ala127Pro) c.382G>C (p.Ala128Pro) c.385G>C (p.Ala129Pro) n.530G>C c.331G>C (p.Ala111Pro) c.478G>C (p.Ala160Pro) c.409G>C (p.Ala137Pro) | |
| 15 | g.74892736G>T | CA393173489 | MPI | c.421G>T (p.Ala141Ser) c.271G>T (p.Ala91Ser) c.*317G>T (n.*317G>T) c.361G>T (p.Ala121Ser) c.255+1247G>T (n.255+1247G>T) n.452G>T c.379G>T (p.Ala127Ser) c.382G>T (p.Ala128Ser) c.385G>T (p.Ala129Ser) n.530G>T c.331G>T (p.Ala111Ser) c.478G>T (p.Ala160Ser) c.409G>T (p.Ala137Ser) | |
| 15 | g.74892737C>A | CA393173490 | MPI | c.422C>A (p.Ala141Asp) c.272C>A (p.Ala91Asp) c.*318C>A (n.*318C>A) c.362C>A (p.Ala121Asp) c.255+1248C>A (n.255+1248C>A) n.453C>A c.380C>A (p.Ala127Asp) c.383C>A (p.Ala128Asp) c.386C>A (p.Ala129Asp) n.531C>A c.332C>A (p.Ala111Asp) c.479C>A (p.Ala160Asp) c.410C>A (p.Ala137Asp) | |
| 15 | g.74892737C>G | CA393173491 | MPI | c.422C>G (p.Ala141Gly) c.272C>G (p.Ala91Gly) c.*318C>G (n.*318C>G) c.362C>G (p.Ala121Gly) c.255+1248C>G (n.255+1248C>G) n.453C>G c.380C>G (p.Ala127Gly) c.383C>G (p.Ala128Gly) c.386C>G (p.Ala129Gly) n.531C>G c.332C>G (p.Ala111Gly) c.479C>G (p.Ala160Gly) c.410C>G (p.Ala137Gly) | |
| 15 | g.74892737C>T | CA393173492 | MPI | c.422C>T (p.Ala141Val) c.272C>T (p.Ala91Val) c.*318C>T (n.*318C>T) c.362C>T (p.Ala121Val) c.255+1248C>T (n.255+1248C>T) n.453C>T c.380C>T (p.Ala127Val) c.383C>T (p.Ala128Val) c.386C>T (p.Ala129Val) n.531C>T c.332C>T (p.Ala111Val) c.479C>T (p.Ala160Val) c.410C>T (p.Ala137Val) | |
| 15 | g.74892738C>A | CA7662436 | MPI | c.423C>A (p.Ala141=) c.273C>A (p.Ala91=) c.*319C>A (n.*319C>A) c.363C>A (p.Ala121=) c.255+1249C>A (n.255+1249C>A) n.454C>A c.381C>A (p.Ala127=) c.384C>A (p.Ala128=) c.387C>A (p.Ala129=) n.532C>A c.333C>A (p.Ala111=) c.480C>A (p.Ala160=) c.411C>A (p.Ala137=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74892738C= | CA2187896837 | MPI | c.423C= (p.Ala141=) c.273C= (p.Ala91=) c.*319C= (n.*319C=) c.363C= (p.Ala121=) c.255+1249C= (n.255+1249C=) n.454C= c.381C= (p.Ala127=) c.384C= (p.Ala128=) c.387C= (p.Ala129=) n.532C= c.333C= (p.Ala111=) c.480C= (p.Ala160=) c.411C= (p.Ala137=) | |
| 15 | g.74892738C>G | CA491220364 | MPI | c.423C>G (p.Ala141=) c.273C>G (p.Ala91=) c.*319C>G (n.*319C>G) c.363C>G (p.Ala121=) c.255+1249C>G (n.255+1249C>G) n.454C>G c.381C>G (p.Ala127=) c.384C>G (p.Ala128=) c.387C>G (p.Ala129=) n.532C>G c.333C>G (p.Ala111=) c.480C>G (p.Ala160=) c.411C>G (p.Ala137=) | |
| 15 | g.74892738C>T | CA491220363 | MPI | c.423C>T (p.Ala141=) c.273C>T (p.Ala91=) c.*319C>T (n.*319C>T) c.363C>T (p.Ala121=) c.255+1249C>T (n.255+1249C>T) n.454C>T c.381C>T (p.Ala127=) c.384C>T (p.Ala128=) c.387C>T (p.Ala129=) n.532C>T c.333C>T (p.Ala111=) c.480C>T (p.Ala160=) c.411C>T (p.Ala137=) | |
| 15 | g.74892739C>A | CA393173493 | MPI | c.424C>A (p.Leu142Ile) c.274C>A (p.Leu92Ile) c.*320C>A (n.*320C>A) c.364C>A (p.Leu122Ile) c.255+1250C>A (n.255+1250C>A) n.455C>A c.382C>A (p.Leu128Ile) c.385C>A (p.Leu129Ile) c.388C>A (p.Leu130Ile) n.533C>A c.334C>A (p.Leu112Ile) c.481C>A (p.Leu161Ile) c.412C>A (p.Leu138Ile) | |
| 15 | g.74892739C>G | CA393173494 | MPI | c.424C>G (p.Leu142Val) c.274C>G (p.Leu92Val) c.*320C>G (n.*320C>G) c.364C>G (p.Leu122Val) c.255+1250C>G (n.255+1250C>G) n.455C>G c.382C>G (p.Leu128Val) c.385C>G (p.Leu129Val) c.388C>G (p.Leu130Val) n.533C>G c.334C>G (p.Leu112Val) c.481C>G (p.Leu161Val) c.412C>G (p.Leu138Val) | |
| 15 | g.74892739C>T | CA393173495 | MPI | c.424C>T (p.Leu142Phe) c.274C>T (p.Leu92Phe) c.*320C>T (n.*320C>T) c.364C>T (p.Leu122Phe) c.255+1250C>T (n.255+1250C>T) n.455C>T c.382C>T (p.Leu128Phe) c.385C>T (p.Leu129Phe) c.388C>T (p.Leu130Phe) n.533C>T c.334C>T (p.Leu112Phe) c.481C>T (p.Leu161Phe) c.412C>T (p.Leu138Phe) | |
| 15 | g.74892740T>A | CA393173498 | MPI | c.425T>A (p.Leu142His) c.275T>A (p.Leu92His) c.*321T>A (n.*321T>A) c.365T>A (p.Leu122His) c.255+1251T>A (n.255+1251T>A) n.456T>A c.383T>A (p.Leu128His) c.386T>A (p.Leu129His) c.389T>A (p.Leu130His) n.534T>A c.335T>A (p.Leu112His) c.482T>A (p.Leu161His) c.413T>A (p.Leu138His) | |
| 15 | g.74892740T>C | CA393173497 | MPI | c.425T>C (p.Leu142Pro) c.275T>C (p.Leu92Pro) c.*321T>C (n.*321T>C) c.365T>C (p.Leu122Pro) c.255+1251T>C (n.255+1251T>C) n.456T>C c.383T>C (p.Leu128Pro) c.386T>C (p.Leu129Pro) c.389T>C (p.Leu130Pro) n.534T>C c.335T>C (p.Leu112Pro) c.482T>C (p.Leu161Pro) c.413T>C (p.Leu138Pro) | |
| 15 | g.74892740T>G | CA393173496 | MPI | c.425T>G (p.Leu142Arg) c.275T>G (p.Leu92Arg) c.*321T>G (n.*321T>G) c.365T>G (p.Leu122Arg) c.255+1251T>G (n.255+1251T>G) n.456T>G c.383T>G (p.Leu128Arg) c.386T>G (p.Leu129Arg) c.389T>G (p.Leu130Arg) n.534T>G c.335T>G (p.Leu112Arg) c.482T>G (p.Leu161Arg) c.413T>G (p.Leu138Arg) | |
| 15 | g.74892741C>A | CA491220365 | MPI | c.426C>A (p.Leu142=) c.276C>A (p.Leu92=) c.*322C>A (n.*322C>A) c.366C>A (p.Leu122=) c.255+1252C>A (n.255+1252C>A) n.457C>A c.384C>A (p.Leu128=) c.387C>A (p.Leu129=) c.390C>A (p.Leu130=) n.535C>A c.336C>A (p.Leu112=) c.483C>A (p.Leu161=) c.414C>A (p.Leu138=) | |
| 15 | g.74892741C>G | CA491220366 | MPI | c.426C>G (p.Leu142=) c.276C>G (p.Leu92=) c.*322C>G (n.*322C>G) c.366C>G (p.Leu122=) c.255+1252C>G (n.255+1252C>G) n.457C>G c.384C>G (p.Leu128=) c.387C>G (p.Leu129=) c.390C>G (p.Leu130=) n.535C>G c.336C>G (p.Leu112=) c.483C>G (p.Leu161=) c.414C>G (p.Leu138=) | ClinVar gnomAD v4 |
| 15 | g.74892741C>T | CA491220367 | MPI | c.426C>T (p.Leu142=) c.276C>T (p.Leu92=) c.*322C>T (n.*322C>T) c.366C>T (p.Leu122=) c.255+1252C>T (n.255+1252C>T) n.457C>T c.384C>T (p.Leu128=) c.387C>T (p.Leu129=) c.390C>T (p.Leu130=) n.535C>T c.336C>T (p.Leu112=) c.483C>T (p.Leu161=) c.414C>T (p.Leu138=) | |
| 15 | g.74892742A>C | CA393173499 | MPI | c.427A>C (p.Thr143Pro) c.277A>C (p.Thr93Pro) c.*323A>C (n.*323A>C) c.367A>C (p.Thr123Pro) c.255+1253A>C (n.255+1253A>C) n.458A>C c.385A>C (p.Thr129Pro) c.388A>C (p.Thr130Pro) c.391A>C (p.Thr131Pro) n.536A>C c.337A>C (p.Thr113Pro) c.484A>C (p.Thr162Pro) c.415A>C (p.Thr139Pro) | |
| 15 | g.74892742A>G | CA393173500 | MPI | c.427A>G (p.Thr143Ala) c.277A>G (p.Thr93Ala) c.*323A>G (n.*323A>G) c.367A>G (p.Thr123Ala) c.255+1253A>G (n.255+1253A>G) n.458A>G c.385A>G (p.Thr129Ala) c.388A>G (p.Thr130Ala) c.391A>G (p.Thr131Ala) n.536A>G c.337A>G (p.Thr113Ala) c.484A>G (p.Thr162Ala) c.415A>G (p.Thr139Ala) | gnomAD v4 |
| 15 | g.74892742A>T | CA393173501 | MPI | c.427A>T (p.Thr143Ser) c.277A>T (p.Thr93Ser) c.*323A>T (n.*323A>T) c.367A>T (p.Thr123Ser) c.255+1253A>T (n.255+1253A>T) n.458A>T c.385A>T (p.Thr129Ser) c.388A>T (p.Thr130Ser) c.391A>T (p.Thr131Ser) n.536A>T c.337A>T (p.Thr113Ser) c.484A>T (p.Thr162Ser) c.415A>T (p.Thr139Ser) | |
| 15 | g.74892743C>A | CA393173502 | MPI | c.428C>A (p.Thr143Asn) c.278C>A (p.Thr93Asn) c.*324C>A (n.*324C>A) c.368C>A (p.Thr123Asn) c.255+1254C>A (n.255+1254C>A) n.459C>A c.386C>A (p.Thr129Asn) c.389C>A (p.Thr130Asn) c.392C>A (p.Thr131Asn) n.537C>A c.338C>A (p.Thr113Asn) c.485C>A (p.Thr162Asn) c.416C>A (p.Thr139Asn) | gnomAD v4 |
| 15 | g.74892743C>G | CA393173503 | MPI | c.428C>G (p.Thr143Ser) c.278C>G (p.Thr93Ser) c.*324C>G (n.*324C>G) c.368C>G (p.Thr123Ser) c.255+1254C>G (n.255+1254C>G) n.459C>G c.386C>G (p.Thr129Ser) c.389C>G (p.Thr130Ser) c.392C>G (p.Thr131Ser) n.537C>G c.338C>G (p.Thr113Ser) c.485C>G (p.Thr162Ser) c.416C>G (p.Thr139Ser) | |
| 15 | g.74892743C>T | CA393173504 | MPI | c.428C>T (p.Thr143Ile) c.278C>T (p.Thr93Ile) c.*324C>T (n.*324C>T) c.368C>T (p.Thr123Ile) c.255+1254C>T (n.255+1254C>T) n.459C>T c.386C>T (p.Thr129Ile) c.389C>T (p.Thr130Ile) c.392C>T (p.Thr131Ile) n.537C>T c.338C>T (p.Thr113Ile) c.485C>T (p.Thr162Ile) c.416C>T (p.Thr139Ile) | gnomAD v4 |
| 15 | g.74892747del | CA2695197318 | MPI | c.432del (p.Phe145SerfsTer14) c.282del (p.Phe95SerfsTer14) c.*328del (n.*328del) c.372del (p.Phe125SerfsTer14) c.255+1258del (n.255+1258del) n.463del c.390del (p.Phe131SerfsTer14) c.393del (p.Phe132SerfsTer14) c.396del (p.Phe133SerfsTer14) n.541del c.342del (p.Phe115SerfsTer14) c.489del (p.Phe164SerfsTer?) c.420del (p.Phe141SerfsTer14) | ClinVar |
| 15 | g.74892744C>A | CA491220371 | MPI | c.429C>A (p.Thr143=) c.279C>A (p.Thr93=) c.*325C>A (n.*325C>A) c.369C>A (p.Thr123=) c.255+1255C>A (n.255+1255C>A) n.460C>A c.387C>A (p.Thr129=) c.390C>A (p.Thr130=) c.393C>A (p.Thr131=) n.538C>A c.339C>A (p.Thr113=) c.486C>A (p.Thr162=) c.417C>A (p.Thr139=) | |
| 15 | g.74892744C>G | CA491220372 | MPI | c.429C>G (p.Thr143=) c.279C>G (p.Thr93=) c.*325C>G (n.*325C>G) c.369C>G (p.Thr123=) c.255+1255C>G (n.255+1255C>G) n.460C>G c.387C>G (p.Thr129=) c.390C>G (p.Thr130=) c.393C>G (p.Thr131=) n.538C>G c.339C>G (p.Thr113=) c.486C>G (p.Thr162=) c.417C>G (p.Thr139=) | |
| 15 | g.74892744C>T | CA491220373 | MPI | c.429C>T (p.Thr143=) c.279C>T (p.Thr93=) c.*325C>T (n.*325C>T) c.369C>T (p.Thr123=) c.255+1255C>T (n.255+1255C>T) n.460C>T c.387C>T (p.Thr129=) c.390C>T (p.Thr130=) c.393C>T (p.Thr131=) n.538C>T c.339C>T (p.Thr113=) c.486C>T (p.Thr162=) c.417C>T (p.Thr139=) |