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 |
|---|---|---|---|---|---|
| 2 | g.127423181_127423196del | CA2660996414 | PROC | c.400+10_400+25del (n.400+10_400+25del) c.410_425del (p.Glu137GlyfsTer28) c.*216_*231del (n.*216_*231del) c.583+10_583+25del (n.583+10_583+25del) c.473_488del (p.Glu158GlyfsTer28) c.463+10_463+25del (n.463+10_463+25del) c.643+10_643+25del (n.643+10_643+25del) c.653_668del (p.Glu218GlyfsTer28) c.593_608del (p.Glu198GlyfsTer28) c.565_568+12del c.494_509del (p.Glu165GlyfsTer28) c.376+10_376+25del (n.376+10_376+25del) c.394+10_394+25del (n.394+10_394+25del) | gnomAD v4 |
| 2 | g.127423186_127423196del | CA2752102862 | PROC | c.400+15_400+25del (n.400+15_400+25del) c.415_425del (p.Trp139GlyfsTer?) c.*221_*231del (n.*221_*231del) c.583+15_583+25del (n.583+15_583+25del) c.478_488del (p.Trp160GlyfsTer?) c.463+15_463+25del (n.463+15_463+25del) c.643+15_643+25del (n.643+15_643+25del) c.658_668del (p.Trp220GlyfsTer?) c.598_608del (p.Trp200GlyfsTer?) c.568+2_568+12del (n.568+2_568+12del) c.499_509del (p.Trp167GlyfsTer?) c.376+15_376+25del (n.376+15_376+25del) c.394+15_394+25del (n.394+15_394+25del) | |
| 2 | g.127423188G>A | CA348399247 | PROC | c.400+17G>A (n.400+17G>A) c.417G>A (p.Trp139Ter) c.*223G>A (n.*223G>A) c.583+17G>A (n.583+17G>A) c.480G>A (p.Trp160Ter) c.463+17G>A (n.463+17G>A) c.643+17G>A (n.643+17G>A) c.660G>A (p.Trp220Ter) c.600G>A (p.Trp200Ter) c.568+4G>A (n.568+4G>A) c.501G>A (p.Trp167Ter) c.376+17G>A (n.376+17G>A) c.394+17G>A (n.394+17G>A) | gnomAD v4 |
| 2 | g.127423188G>C | CA348399249 | PROC | c.400+17G>C (n.400+17G>C) c.417G>C (p.Trp139Cys) c.*223G>C (n.*223G>C) c.583+17G>C (n.583+17G>C) c.480G>C (p.Trp160Cys) c.463+17G>C (n.463+17G>C) c.643+17G>C (n.643+17G>C) c.660G>C (p.Trp220Cys) c.600G>C (p.Trp200Cys) c.568+4G>C (n.568+4G>C) c.501G>C (p.Trp167Cys) c.376+17G>C (n.376+17G>C) c.394+17G>C (n.394+17G>C) | |
| 2 | g.127423188G= | CA1286882053 | PROC | c.400+17G= (n.400+17G=) c.417G= (p.Trp139=) c.*223G= (n.*223G=) c.583+17G= (n.583+17G=) c.480G= (p.Trp160=) c.463+17G= (n.463+17G=) c.643+17G= (n.643+17G=) c.660G= (p.Trp220=) c.600G= (p.Trp200=) c.568+4G= (n.568+4G=) c.501G= (p.Trp167=) c.376+17G= (n.376+17G=) c.394+17G= (n.394+17G=) | |
| 2 | g.127423188G>T | CA348399248 | PROC | c.400+17G>T (n.400+17G>T) c.417G>T (p.Trp139Cys) c.*223G>T (n.*223G>T) c.583+17G>T (n.583+17G>T) c.480G>T (p.Trp160Cys) c.463+17G>T (n.463+17G>T) c.643+17G>T (n.643+17G>T) c.660G>T (p.Trp220Cys) c.600G>T (p.Trp200Cys) c.568+4G>T (n.568+4G>T) c.501G>T (p.Trp167Cys) c.376+17G>T (n.376+17G>T) c.394+17G>T (n.394+17G>T) | dbSNP gnomAD v4 |
| 2 | g.127423188_127423192del | CA2660996415 | PROC | c.400+17_400+21del (n.400+17_400+21del) c.417_421del (p.Trp139CysfsTer?) c.*223_*227del (n.*223_*227del) c.583+17_583+21del (n.583+17_583+21del) c.480_484del (p.Trp160CysfsTer?) c.463+17_463+21del (n.463+17_463+21del) c.643+17_643+21del (n.643+17_643+21del) c.660_664del (p.Trp220CysfsTer?) c.600_604del (p.Trp200CysfsTer?) c.568+4_568+8del (n.568+4_568+8del) c.501_505del (p.Trp167CysfsTer?) c.376+17_376+21del (n.376+17_376+21del) c.394+17_394+21del (n.394+17_394+21del) | gnomAD v4 |
| 2 | g.127423189A>C | CA348399250 | PROC | c.400+18A>C (n.400+18A>C) c.418A>C (p.Met140Leu) c.*224A>C (n.*224A>C) c.583+18A>C (n.583+18A>C) c.481A>C (p.Met161Leu) c.463+18A>C (n.463+18A>C) c.643+18A>C (n.643+18A>C) c.661A>C (p.Met221Leu) c.601A>C (p.Met201Leu) c.568+5A>C (n.568+5A>C) c.502A>C (p.Met168Leu) c.376+18A>C (n.376+18A>C) c.394+18A>C (n.394+18A>C) | gnomAD v4 |
| 2 | g.127423189A>G | CA348399251 | PROC | c.400+18A>G (n.400+18A>G) c.418A>G (p.Met140Val) c.*224A>G (n.*224A>G) c.583+18A>G (n.583+18A>G) c.481A>G (p.Met161Val) c.463+18A>G (n.463+18A>G) c.643+18A>G (n.643+18A>G) c.661A>G (p.Met221Val) c.601A>G (p.Met201Val) c.568+5A>G (n.568+5A>G) c.502A>G (p.Met168Val) c.376+18A>G (n.376+18A>G) c.394+18A>G (n.394+18A>G) | dbSNP |
| 2 | g.127423189A>T | CA348399252 | PROC | c.400+18A>T (n.400+18A>T) c.418A>T (p.Met140Leu) c.*224A>T (n.*224A>T) c.583+18A>T (n.583+18A>T) c.481A>T (p.Met161Leu) c.463+18A>T (n.463+18A>T) c.643+18A>T (n.643+18A>T) c.661A>T (p.Met221Leu) c.601A>T (p.Met201Leu) c.568+5A>T (n.568+5A>T) c.502A>T (p.Met168Leu) c.376+18A>T (n.376+18A>T) c.394+18A>T (n.394+18A>T) | dbSNP gnomAD v4 |
| 2 | g.127423189_127423190del | CA2660996416 | PROC | c.400+18_400+19del (n.400+18_400+19del) c.418_419del (p.Met140AlafsTer?) c.*224_*225del (n.*224_*225del) c.583+18_583+19del (n.583+18_583+19del) c.481_482del (p.Met161AlafsTer?) c.463+18_463+19del (n.463+18_463+19del) c.643+18_643+19del (n.643+18_643+19del) c.661_662del (p.Met221AlafsTer?) c.601_602del (p.Met201AlafsTer?) c.568+5_568+6del (n.568+5_568+6del) c.502_503del (p.Met168AlafsTer?) c.376+18_376+19del (n.376+18_376+19del) c.394+18_394+19del (n.394+18_394+19del) | gnomAD v4 |
| 2 | g.127423189_127423192del | CA2660996418 | PROC | c.400+18_400+21del (n.400+18_400+21del) c.418_421del (p.Met140TrpfsTer29) c.*224_*227del (n.*224_*227del) c.583+18_583+21del (n.583+18_583+21del) c.481_484del (p.Met161TrpfsTer29) c.463+18_463+21del (n.463+18_463+21del) c.643+18_643+21del (n.643+18_643+21del) c.661_664del (p.Met221TrpfsTer29) c.601_604del (p.Met201TrpfsTer29) c.568+5_568+8del (n.568+5_568+8del) c.502_505del (p.Met168TrpfsTer29) c.376+18_376+21del (n.376+18_376+21del) c.394+18_394+21del (n.394+18_394+21del) | gnomAD v4 |
| 2 | g.127423189_127423193del | CA2660996417 | PROC | c.400+18_400+22del (n.400+18_400+22del) c.418_422del (p.Met140GlyfsTer?) c.*224_*228del (n.*224_*228del) c.583+18_583+22del (n.583+18_583+22del) c.481_485del (p.Met161GlyfsTer?) c.463+18_463+22del (n.463+18_463+22del) c.643+18_643+22del (n.643+18_643+22del) c.661_665del (p.Met221GlyfsTer?) c.601_605del (p.Met201GlyfsTer?) c.568+5_568+9del (n.568+5_568+9del) c.502_506del (p.Met168GlyfsTer?) c.376+18_376+22del (n.376+18_376+22del) c.394+18_394+22del (n.394+18_394+22del) | gnomAD v4 |
| 2 | g.127423189_127423190insAAGACACTGCTC | CA2660996419 | PROC | c.400+18_400+19insAAGACACTGCTC (n.400+18_400+19insAAGACACTGCTC) c.418_419insAAGACACTGCTC (p.Met140delinsLysAspThrAlaLeu) c.*224_*225insAAGACACTGCTC (n.*224_*225insAAGACACTGCTC) c.583+18_583+19insAAGACACTGCTC (n.583+18_583+19insAAGACACTGCTC) c.481_482insAAGACACTGCTC (p.Met161delinsLysAspThrAlaLeu) c.463+18_463+19insAAGACACTGCTC (n.463+18_463+19insAAGACACTGCTC) c.643+18_643+19insAAGACACTGCTC (n.643+18_643+19insAAGACACTGCTC) c.661_662insAAGACACTGCTC (p.Met221delinsLysAspThrAlaLeu) c.601_602insAAGACACTGCTC (p.Met201delinsLysAspThrAlaLeu) c.568+5_568+6insAAGACACTGCTC (n.568+5_568+6insAAGACACTGCTC) c.502_503insAAGACACTGCTC (p.Met168delinsLysAspThrAlaLeu) c.376+18_376+19insAAGACACTGCTC (n.376+18_376+19insAAGACACTGCTC) c.394+18_394+19insAAGACACTGCTC (n.394+18_394+19insAAGACACTGCTC) | gnomAD v4 |
| 2 | g.127423190T>A | CA348399253 | PROC | c.400+19T>A (n.400+19T>A) c.419T>A (p.Met140Lys) c.*225T>A (n.*225T>A) c.583+19T>A (n.583+19T>A) c.482T>A (p.Met161Lys) c.463+19T>A (n.463+19T>A) c.643+19T>A (n.643+19T>A) c.662T>A (p.Met221Lys) c.602T>A (p.Met201Lys) c.568+6T>A (n.568+6T>A) c.503T>A (p.Met168Lys) c.376+19T>A (n.376+19T>A) c.394+19T>A (n.394+19T>A) | |
| 2 | g.127423190T>C | CA348399254 | PROC | c.400+19T>C (n.400+19T>C) c.419T>C (p.Met140Thr) c.*225T>C (n.*225T>C) c.583+19T>C (n.583+19T>C) c.482T>C (p.Met161Thr) c.463+19T>C (n.463+19T>C) c.643+19T>C (n.643+19T>C) c.662T>C (p.Met221Thr) c.602T>C (p.Met201Thr) c.568+6T>C (n.568+6T>C) c.503T>C (p.Met168Thr) c.376+19T>C (n.376+19T>C) c.394+19T>C (n.394+19T>C) | |
| 2 | g.127423190T>G | CA1859332 | PROC | c.400+19T>G (n.400+19T>G) c.419T>G (p.Met140Arg) c.*225T>G (n.*225T>G) c.583+19T>G (n.583+19T>G) c.482T>G (p.Met161Arg) c.463+19T>G (n.463+19T>G) c.643+19T>G (n.643+19T>G) c.662T>G (p.Met221Arg) c.602T>G (p.Met201Arg) c.568+6T>G (n.568+6T>G) c.503T>G (p.Met168Arg) c.376+19T>G (n.376+19T>G) c.394+19T>G (n.394+19T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127423190T= | CA1286882054 | PROC | c.400+19T= (n.400+19T=) c.419T= (p.Met140=) c.*225T= (n.*225T=) c.583+19T= (n.583+19T=) c.482T= (p.Met161=) c.463+19T= (n.463+19T=) c.643+19T= (n.643+19T=) c.662T= (p.Met221=) c.602T= (p.Met201=) c.568+6T= (n.568+6T=) c.503T= (p.Met168=) c.376+19T= (n.376+19T=) c.394+19T= (n.394+19T=) | |
| 2 | g.127423191G>A | CA348399255 | PROC | c.400+20G>A (n.400+20G>A) c.420G>A (p.Met140Ile) c.*226G>A (n.*226G>A) c.583+20G>A (n.583+20G>A) c.483G>A (p.Met161Ile) c.463+20G>A (n.463+20G>A) c.643+20G>A (n.643+20G>A) c.663G>A (p.Met221Ile) c.603G>A (p.Met201Ile) c.568+7G>A (n.568+7G>A) c.504G>A (p.Met168Ile) c.376+20G>A (n.376+20G>A) c.394+20G>A (n.394+20G>A) | gnomAD v4 |
| 2 | g.127423191G>C | CA348399256 | PROC | c.400+20G>C (n.400+20G>C) c.420G>C (p.Met140Ile) c.*226G>C (n.*226G>C) c.583+20G>C (n.583+20G>C) c.483G>C (p.Met161Ile) c.463+20G>C (n.463+20G>C) c.643+20G>C (n.643+20G>C) c.663G>C (p.Met221Ile) c.603G>C (p.Met201Ile) c.568+7G>C (n.568+7G>C) c.504G>C (p.Met168Ile) c.376+20G>C (n.376+20G>C) c.394+20G>C (n.394+20G>C) | |
| 2 | g.127423191G>T | CA348399257 | PROC | c.400+20G>T (n.400+20G>T) c.420G>T (p.Met140Ile) c.*226G>T (n.*226G>T) c.583+20G>T (n.583+20G>T) c.483G>T (p.Met161Ile) c.463+20G>T (n.463+20G>T) c.643+20G>T (n.643+20G>T) c.663G>T (p.Met221Ile) c.603G>T (p.Met201Ile) c.568+7G>T (n.568+7G>T) c.504G>T (p.Met168Ile) c.376+20G>T (n.376+20G>T) c.394+20G>T (n.394+20G>T) | gnomAD v4 |
| 2 | g.127423193_127423196dup | CA2660996420 | PROC | c.400+22_400+25dup (n.400+22_400+25dup) c.422_425dup (p.Gly145ArgfsTer?) c.*228_*231dup (n.*228_*231dup) c.583+22_583+25dup (n.583+22_583+25dup) c.485_488dup (p.Gly166ArgfsTer?) c.463+22_463+25dup (n.463+22_463+25dup) c.643+22_643+25dup (n.643+22_643+25dup) c.665_668dup (p.Gly226ArgfsTer?) c.605_608dup (p.Gly206ArgfsTer?) c.568+9_568+12dup (n.568+9_568+12dup) c.506_509dup (p.Gly173ArgfsTer?) c.376+22_376+25dup (n.376+22_376+25dup) c.394+22_394+25dup (n.394+22_394+25dup) | gnomAD v4 |
| 2 | g.127423192C>A | CA348399258 | PROC | c.400+21C>A (n.400+21C>A) c.421C>A (p.Leu141Met) c.*227C>A (n.*227C>A) c.583+21C>A (n.583+21C>A) c.484C>A (p.Leu162Met) c.463+21C>A (n.463+21C>A) c.643+21C>A (n.643+21C>A) c.664C>A (p.Leu222Met) c.604C>A (p.Leu202Met) c.568+8C>A (n.568+8C>A) c.505C>A (p.Leu169Met) c.376+21C>A (n.376+21C>A) c.394+21C>A (n.394+21C>A) | gnomAD v4 |
| 2 | g.127423192C= | CA1286882055 | PROC | c.400+21C= (n.400+21C=) c.421C= (p.Leu141=) c.*227C= (n.*227C=) c.583+21C= (n.583+21C=) c.484C= (p.Leu162=) c.463+21C= (n.463+21C=) c.643+21C= (n.643+21C=) c.664C= (p.Leu222=) c.604C= (p.Leu202=) c.568+8C= (n.568+8C=) c.505C= (p.Leu169=) c.376+21C= (n.376+21C=) c.394+21C= (n.394+21C=) | |
| 2 | g.127423192C>G | CA348399259 | PROC | c.400+21C>G (n.400+21C>G) c.421C>G (p.Leu141Val) c.*227C>G (n.*227C>G) c.583+21C>G (n.583+21C>G) c.484C>G (p.Leu162Val) c.463+21C>G (n.463+21C>G) c.643+21C>G (n.643+21C>G) c.664C>G (p.Leu222Val) c.604C>G (p.Leu202Val) c.568+8C>G (n.568+8C>G) c.505C>G (p.Leu169Val) c.376+21C>G (n.376+21C>G) c.394+21C>G (n.394+21C>G) | dbSNP gnomAD v4 |
| 2 | g.127423192C>T | CA1286882056 | PROC | c.400+21C>T (n.400+21C>T) c.421C>T (p.Leu141=) c.*227C>T (n.*227C>T) c.583+21C>T (n.583+21C>T) c.484C>T (p.Leu162=) c.463+21C>T (n.463+21C>T) c.643+21C>T (n.643+21C>T) c.664C>T (p.Leu222=) c.604C>T (p.Leu202=) c.568+8C>T (n.568+8C>T) c.505C>T (p.Leu169=) c.376+21C>T (n.376+21C>T) c.394+21C>T (n.394+21C>T) | dbSNP gnomAD v4 |
| 2 | g.127423192_127423193del | CA2660996421 | PROC | c.400+21_400+22del (n.400+21_400+22del) c.421_422del (p.Leu141GlyfsTer?) c.*227_*228del (n.*227_*228del) c.583+21_583+22del (n.583+21_583+22del) c.484_485del (p.Leu162GlyfsTer?) c.463+21_463+22del (n.463+21_463+22del) c.643+21_643+22del (n.643+21_643+22del) c.664_665del (p.Leu222GlyfsTer?) c.604_605del (p.Leu202GlyfsTer?) c.568+8_568+9del (n.568+8_568+9del) c.505_506del (p.Leu169GlyfsTer?) c.376+21_376+22del (n.376+21_376+22del) c.394+21_394+22del (n.394+21_394+22del) | gnomAD v4 |
| 2 | g.127423193T>A | CA348399260 | PROC | c.400+22T>A (n.400+22T>A) c.422T>A (p.Leu141Gln) c.*228T>A (n.*228T>A) c.583+22T>A (n.583+22T>A) c.485T>A (p.Leu162Gln) c.463+22T>A (n.463+22T>A) c.643+22T>A (n.643+22T>A) c.665T>A (p.Leu222Gln) c.605T>A (p.Leu202Gln) c.568+9T>A (n.568+9T>A) c.506T>A (p.Leu169Gln) c.376+22T>A (n.376+22T>A) c.394+22T>A (n.394+22T>A) | |
| 2 | g.127423193T>C | CA348399262 | PROC | c.400+22T>C (n.400+22T>C) c.422T>C (p.Leu141Pro) c.*228T>C (n.*228T>C) c.583+22T>C (n.583+22T>C) c.485T>C (p.Leu162Pro) c.463+22T>C (n.463+22T>C) c.643+22T>C (n.643+22T>C) c.665T>C (p.Leu222Pro) c.605T>C (p.Leu202Pro) c.568+9T>C (n.568+9T>C) c.506T>C (p.Leu169Pro) c.376+22T>C (n.376+22T>C) c.394+22T>C (n.394+22T>C) | gnomAD v4 |
| 2 | g.127423193T>G | CA348399261 | PROC | c.400+22T>G (n.400+22T>G) c.422T>G (p.Leu141Arg) c.*228T>G (n.*228T>G) c.583+22T>G (n.583+22T>G) c.485T>G (p.Leu162Arg) c.463+22T>G (n.463+22T>G) c.643+22T>G (n.643+22T>G) c.665T>G (p.Leu222Arg) c.605T>G (p.Leu202Arg) c.568+9T>G (n.568+9T>G) c.506T>G (p.Leu169Arg) c.376+22T>G (n.376+22T>G) c.394+22T>G (n.394+22T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.127423193T= | CA1286882057 | PROC | c.400+22T= (n.400+22T=) c.422T= (p.Leu141=) c.*228T= (n.*228T=) c.583+22T= (n.583+22T=) c.485T= (p.Leu162=) c.463+22T= (n.463+22T=) c.643+22T= (n.643+22T=) c.665T= (p.Leu222=) c.605T= (p.Leu202=) c.568+9T= (n.568+9T=) c.506T= (p.Leu169=) c.376+22T= (n.376+22T=) c.394+22T= (n.394+22T=) | |
| 2 | g.127423193_127423194insTGGGGGG | CA2660996422 | PROC | c.400+22_400+23insTGGGGGG (n.400+22_400+23insTGGGGGG) c.422_423insTGGGGGG (p.Ala142GlyfsTer?) c.*228_*229insTGGGGGG (n.*228_*229insTGGGGGG) c.583+22_583+23insTGGGGGG (n.583+22_583+23insTGGGGGG) c.485_486insTGGGGGG (p.Ala163GlyfsTer?) c.463+22_463+23insTGGGGGG (n.463+22_463+23insTGGGGGG) c.643+22_643+23insTGGGGGG (n.643+22_643+23insTGGGGGG) c.665_666insTGGGGGG (p.Ala223GlyfsTer?) c.605_606insTGGGGGG (p.Ala203GlyfsTer?) c.568+9_568+10insTGGGGGG (n.568+9_568+10insTGGGGGG) c.506_507insTGGGGGG (p.Ala170GlyfsTer?) c.376+22_376+23insTGGGGGG (n.376+22_376+23insTGGGGGG) c.394+22_394+23insTGGGGGG (n.394+22_394+23insTGGGGGG) | gnomAD v4 |
| 2 | g.127423194G>A | CA1036158565 | PROC | c.400+23G>A (n.400+23G>A) c.423G>A (p.Leu141=) c.*229G>A (n.*229G>A) c.583+23G>A (n.583+23G>A) c.486G>A (p.Leu162=) c.463+23G>A (n.463+23G>A) c.643+23G>A (n.643+23G>A) c.666G>A (p.Leu222=) c.606G>A (p.Leu202=) c.568+10G>A (n.568+10G>A) c.507G>A (p.Leu169=) c.376+23G>A (n.376+23G>A) c.394+23G>A (n.394+23G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.127423194G>C | CA2739772593 | PROC | c.400+23G>C (n.400+23G>C) c.423G>C (p.Leu141=) c.*229G>C (n.*229G>C) c.583+23G>C (n.583+23G>C) c.486G>C (p.Leu162=) c.463+23G>C (n.463+23G>C) c.643+23G>C (n.643+23G>C) c.666G>C (p.Leu222=) c.606G>C (p.Leu202=) c.568+10G>C (n.568+10G>C) c.507G>C (p.Leu169=) c.376+23G>C (n.376+23G>C) c.394+23G>C (n.394+23G>C) | |
| 2 | g.127423194G= | CA1286882058 | PROC | c.400+23G= (n.400+23G=) c.423G= (p.Leu141=) c.*229G= (n.*229G=) c.583+23G= (n.583+23G=) c.486G= (p.Leu162=) c.463+23G= (n.463+23G=) c.643+23G= (n.643+23G=) c.666G= (p.Leu222=) c.606G= (p.Leu202=) c.568+10G= (n.568+10G=) c.507G= (p.Leu169=) c.376+23G= (n.376+23G=) c.394+23G= (n.394+23G=) | |
| 2 | g.127423194G>T | CA2739772594 | PROC | c.400+23G>T (n.400+23G>T) c.423G>T (p.Leu141=) c.*229G>T (n.*229G>T) c.583+23G>T (n.583+23G>T) c.486G>T (p.Leu162=) c.463+23G>T (n.463+23G>T) c.643+23G>T (n.643+23G>T) c.666G>T (p.Leu222=) c.606G>T (p.Leu202=) c.568+10G>T (n.568+10G>T) c.507G>T (p.Leu169=) c.376+23G>T (n.376+23G>T) c.394+23G>T (n.394+23G>T) | |
| 2 | g.127423195G>A | CA348399263 | PROC | c.400+24G>A (n.400+24G>A) c.424G>A (p.Ala142Thr) c.*230G>A (n.*230G>A) c.583+24G>A (n.583+24G>A) c.487G>A (p.Ala163Thr) c.463+24G>A (n.463+24G>A) c.643+24G>A (n.643+24G>A) c.667G>A (p.Ala223Thr) c.607G>A (p.Ala203Thr) c.568+11G>A (n.568+11G>A) c.508G>A (p.Ala170Thr) c.376+24G>A (n.376+24G>A) c.394+24G>A (n.394+24G>A) | |
| 2 | g.127423195G>C | CA348399264 | PROC | c.400+24G>C (n.400+24G>C) c.424G>C (p.Ala142Pro) c.*230G>C (n.*230G>C) c.583+24G>C (n.583+24G>C) c.487G>C (p.Ala163Pro) c.463+24G>C (n.463+24G>C) c.643+24G>C (n.643+24G>C) c.667G>C (p.Ala223Pro) c.607G>C (p.Ala203Pro) c.568+11G>C (n.568+11G>C) c.508G>C (p.Ala170Pro) c.376+24G>C (n.376+24G>C) c.394+24G>C (n.394+24G>C) | |
| 2 | g.127423195G>T | CA348399265 | PROC | c.400+24G>T (n.400+24G>T) c.424G>T (p.Ala142Ser) c.*230G>T (n.*230G>T) c.583+24G>T (n.583+24G>T) c.487G>T (p.Ala163Ser) c.463+24G>T (n.463+24G>T) c.643+24G>T (n.643+24G>T) c.667G>T (p.Ala223Ser) c.607G>T (p.Ala203Ser) c.568+11G>T (n.568+11G>T) c.508G>T (p.Ala170Ser) c.376+24G>T (n.376+24G>T) c.394+24G>T (n.394+24G>T) | |
| 2 | g.127423196C>A | CA348399266 | PROC | c.400+25C>A (n.400+25C>A) c.425C>A (p.Ala142Glu) c.*231C>A (n.*231C>A) c.583+25C>A (n.583+25C>A) c.488C>A (p.Ala163Glu) c.463+25C>A (n.463+25C>A) c.643+25C>A (n.643+25C>A) c.668C>A (p.Ala223Glu) c.608C>A (p.Ala203Glu) c.568+12C>A (n.568+12C>A) c.509C>A (p.Ala170Glu) c.376+25C>A (n.376+25C>A) c.394+25C>A (n.394+25C>A) | gnomAD v4 |
| 2 | g.127423196C= | CA1286882059 | PROC | c.400+25C= (n.400+25C=) c.425C= (p.Ala142=) c.*231C= (n.*231C=) c.583+25C= (n.583+25C=) c.488C= (p.Ala163=) c.463+25C= (n.463+25C=) c.643+25C= (n.643+25C=) c.668C= (p.Ala223=) c.608C= (p.Ala203=) c.568+12C= (n.568+12C=) c.509C= (p.Ala170=) c.376+25C= (n.376+25C=) c.394+25C= (n.394+25C=) | |
| 2 | g.127423196C>G | CA348399267 | PROC | c.400+25C>G (n.400+25C>G) c.425C>G (p.Ala142Gly) c.*231C>G (n.*231C>G) c.583+25C>G (n.583+25C>G) c.488C>G (p.Ala163Gly) c.463+25C>G (n.463+25C>G) c.643+25C>G (n.643+25C>G) c.668C>G (p.Ala223Gly) c.608C>G (p.Ala203Gly) c.568+12C>G (n.568+12C>G) c.509C>G (p.Ala170Gly) c.376+25C>G (n.376+25C>G) c.394+25C>G (n.394+25C>G) | dbSNP gnomAD v4 |
| 2 | g.127423196C>T | CA1859333 | PROC | c.400+25C>T (n.400+25C>T) c.425C>T (p.Ala142Val) c.*231C>T (n.*231C>T) c.583+25C>T (n.583+25C>T) c.488C>T (p.Ala163Val) c.463+25C>T (n.463+25C>T) c.643+25C>T (n.643+25C>T) c.668C>T (p.Ala223Val) c.608C>T (p.Ala203Val) c.568+12C>T (n.568+12C>T) c.509C>T (p.Ala170Val) c.376+25C>T (n.376+25C>T) c.394+25C>T (n.394+25C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.127423197_127423252del | CA2660996423 | PROC | c.400+26_401-22del (n.400+26_401-22del) c.426_481del (p.Gly143AlafsTer?) c.400+26_401-79del (n.400+26_401-79del) c.583+26_584-22del (n.583+26_584-22del) c.489_544del (p.Gly164AlafsTer?) c.463+26_464-22del (n.463+26_464-22del) c.643+26_644-22del (n.643+26_644-22del) c.669_724del (p.Gly224AlafsTer?) c.609_664del (p.Gly204AlafsTer?) c.568+13_569-22del (n.568+13_569-22del) c.510_565del (p.Gly171AlafsTer?) c.376+26_377-22del (n.376+26_377-22del) c.394+26_395-22del (n.394+26_395-22del) | gnomAD v4 |
| 2 | g.127423197G>A | CA2660996424 | PROC | c.400+26G>A (n.400+26G>A) c.426G>A (p.Ala142=) c.*232G>A (n.*232G>A) c.583+26G>A (n.583+26G>A) c.489G>A (p.Ala163=) c.463+26G>A (n.463+26G>A) c.643+26G>A (n.643+26G>A) c.669G>A (p.Ala223=) c.609G>A (p.Ala203=) c.568+13G>A (n.568+13G>A) c.510G>A (p.Ala170=) c.376+26G>A (n.376+26G>A) c.394+26G>A (n.394+26G>A) | gnomAD v4 |
| 2 | g.127423197G>C | CA536067703 | PROC | c.400+26G>C (n.400+26G>C) c.426G>C (p.Ala142=) c.*232G>C (n.*232G>C) c.583+26G>C (n.583+26G>C) c.489G>C (p.Ala163=) c.463+26G>C (n.463+26G>C) c.643+26G>C (n.643+26G>C) c.669G>C (p.Ala223=) c.609G>C (p.Ala203=) c.568+13G>C (n.568+13G>C) c.510G>C (p.Ala170=) c.376+26G>C (n.376+26G>C) c.394+26G>C (n.394+26G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.127423197G= | CA1286882060 | PROC | c.400+26G= (n.400+26G=) c.426G= (p.Ala142=) c.*232G= (n.*232G=) c.583+26G= (n.583+26G=) c.489G= (p.Ala163=) c.463+26G= (n.463+26G=) c.643+26G= (n.643+26G=) c.669G= (p.Ala223=) c.609G= (p.Ala203=) c.568+13G= (n.568+13G=) c.510G= (p.Ala170=) c.376+26G= (n.376+26G=) c.394+26G= (n.394+26G=) | |
| 2 | g.127423197G>T | CA2660996425 | PROC | c.400+26G>T (n.400+26G>T) c.426G>T (p.Ala142=) c.*232G>T (n.*232G>T) c.583+26G>T (n.583+26G>T) c.489G>T (p.Ala163=) c.463+26G>T (n.463+26G>T) c.643+26G>T (n.643+26G>T) c.669G>T (p.Ala223=) c.609G>T (p.Ala203=) c.568+13G>T (n.568+13G>T) c.510G>T (p.Ala170=) c.376+26G>T (n.376+26G>T) c.394+26G>T (n.394+26G>T) | gnomAD v4 |
| 2 | g.127423199_127423200insGGGGTGTGGGGGTTGGGGGGGGGGGG | CA2752102863 | PROC | c.400+28_400+29insGGGGTGTGGGGGTTGGGGGGGGGGGG (n.400+28_400+29insGGGGTGTGGGGGTTGGGGGGGGGGGG) c.428_429insGGGGTGTGGGGGTTGGGGGGGGGGGG (p.Gly145CysfsTer34) c.*234_*235insGGGGTGTGGGGGTTGGGGGGGGGGGG (n.*234_*235insGGGGTGTGGGGGTTGGGGGGGGGGGG) c.583+28_583+29insGGGGTGTGGGGGTTGGGGGGGGGGGG (n.583+28_583+29insGGGGTGTGGGGGTTGGGGGGGGGGGG) c.491_492insGGGGTGTGGGGGTTGGGGGGGGGGGG (p.Gly166CysfsTer34) c.463+28_463+29insGGGGTGTGGGGGTTGGGGGGGGGGGG (n.463+28_463+29insGGGGTGTGGGGGTTGGGGGGGGGGGG) c.643+28_643+29insGGGGTGTGGGGGTTGGGGGGGGGGGG (n.643+28_643+29insGGGGTGTGGGGGTTGGGGGGGGGGGG) c.671_672insGGGGTGTGGGGGTTGGGGGGGGGGGG (p.Gly226CysfsTer34) c.611_612insGGGGTGTGGGGGTTGGGGGGGGGGGG (p.Gly206CysfsTer34) c.568+15_568+16insGGGGTGTGGGGGTTGGGGGGGGGGGG (n.568+15_568+16insGGGGTGTGGGGGTTGGGGGGGGGGGG) c.512_513insGGGGTGTGGGGGTTGGGGGGGGGGGG (p.Gly173CysfsTer34) c.376+28_376+29insGGGGTGTGGGGGTTGGGGGGGGGGGG (n.376+28_376+29insGGGGTGTGGGGGTTGGGGGGGGGGGG) c.394+28_394+29insGGGGTGTGGGGGTTGGGGGGGGGGGG (n.394+28_394+29insGGGGTGTGGGGGTTGGGGGGGGGGGG) | |
| 2 | g.127423198G>A | CA348399268 | PROC | c.400+27G>A (n.400+27G>A) c.427G>A (p.Gly143Ser) c.*233G>A (n.*233G>A) c.583+27G>A (n.583+27G>A) c.490G>A (p.Gly164Ser) c.463+27G>A (n.463+27G>A) c.643+27G>A (n.643+27G>A) c.670G>A (p.Gly224Ser) c.610G>A (p.Gly204Ser) c.568+14G>A (n.568+14G>A) c.511G>A (p.Gly171Ser) c.376+27G>A (n.376+27G>A) c.394+27G>A (n.394+27G>A) |