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.28141390_28141392del | CA2730535638 | HERC2 | c.12015+41_12015+43del (n.12015+41_12015+43del) c.3726+41_3726+43del (n.3726+41_3726+43del) c.11901+41_11901+43del (n.11901+41_11901+43del) c.12000+41_12000+43del (n.12000+41_12000+43del) c.11757+41_11757+43del (n.11757+41_11757+43del) c.11532+41_11532+43del (n.11532+41_11532+43del) c.9531+41_9531+43del (n.9531+41_9531+43del) c.8760+41_8760+43del (n.8760+41_8760+43del) c.6132+41_6132+43del (n.6132+41_6132+43del) c.5181+41_5181+43del (n.5181+41_5181+43del) | dbSNP |
| 15 | g.28141393A>G | CA2575653848 | HERC2 | c.12015+39T>C (n.12015+39T>C) c.3726+39T>C (n.3726+39T>C) c.11901+39T>C (n.11901+39T>C) c.12000+39T>C (n.12000+39T>C) c.11757+39T>C (n.11757+39T>C) c.11532+39T>C (n.11532+39T>C) c.9531+39T>C (n.9531+39T>C) c.8760+39T>C (n.8760+39T>C) c.6132+39T>C (n.6132+39T>C) c.5181+39T>C (n.5181+39T>C) | |
| 15 | g.28141393A>T | CA2575653849 | HERC2 | c.12015+39T>A (n.12015+39T>A) c.3726+39T>A (n.3726+39T>A) c.11901+39T>A (n.11901+39T>A) c.12000+39T>A (n.12000+39T>A) c.11757+39T>A (n.11757+39T>A) c.11532+39T>A (n.11532+39T>A) c.9531+39T>A (n.9531+39T>A) c.8760+39T>A (n.8760+39T>A) c.6132+39T>A (n.6132+39T>A) c.5181+39T>A (n.5181+39T>A) | |
| 15 | g.28141394G>A | CA2166479784 | HERC2 | c.12015+38C>T (n.12015+38C>T) c.3726+38C>T (n.3726+38C>T) c.11901+38C>T (n.11901+38C>T) c.12000+38C>T (n.12000+38C>T) c.11757+38C>T (n.11757+38C>T) c.11532+38C>T (n.11532+38C>T) c.9531+38C>T (n.9531+38C>T) c.8760+38C>T (n.8760+38C>T) c.6132+38C>T (n.6132+38C>T) c.5181+38C>T (n.5181+38C>T) | dbSNP |
| 15 | g.28141394G= | CA2166479783 | HERC2 | c.12015+38C= (n.12015+38C=) c.3726+38C= (n.3726+38C=) c.11901+38C= (n.11901+38C=) c.12000+38C= (n.12000+38C=) c.11757+38C= (n.11757+38C=) c.11532+38C= (n.11532+38C=) c.9531+38C= (n.9531+38C=) c.8760+38C= (n.8760+38C=) c.6132+38C= (n.6132+38C=) c.5181+38C= (n.5181+38C=) | |
| 15 | g.28141395G>A | CA711722230 | HERC2 | c.12015+37C>T (n.12015+37C>T) c.3726+37C>T (n.3726+37C>T) c.11901+37C>T (n.11901+37C>T) c.12000+37C>T (n.12000+37C>T) c.11757+37C>T (n.11757+37C>T) c.11532+37C>T (n.11532+37C>T) c.9531+37C>T (n.9531+37C>T) c.8760+37C>T (n.8760+37C>T) c.6132+37C>T (n.6132+37C>T) c.5181+37C>T (n.5181+37C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.28141395G= | CA2166479786 | HERC2 | c.12015+37C= (n.12015+37C=) c.3726+37C= (n.3726+37C=) c.11901+37C= (n.11901+37C=) c.12000+37C= (n.12000+37C=) c.11757+37C= (n.11757+37C=) c.11532+37C= (n.11532+37C=) c.9531+37C= (n.9531+37C=) c.8760+37C= (n.8760+37C=) c.6132+37C= (n.6132+37C=) c.5181+37C= (n.5181+37C=) | |
| 15 | g.28141395G>T | CA2627386239 | HERC2 | c.12015+37C>A (n.12015+37C>A) c.3726+37C>A (n.3726+37C>A) c.11901+37C>A (n.11901+37C>A) c.12000+37C>A (n.12000+37C>A) c.11757+37C>A (n.11757+37C>A) c.11532+37C>A (n.11532+37C>A) c.9531+37C>A (n.9531+37C>A) c.8760+37C>A (n.8760+37C>A) c.6132+37C>A (n.6132+37C>A) c.5181+37C>A (n.5181+37C>A) | gnomAD v4 |
| 15 | g.28141396C>A | CA2627386240 | HERC2 | c.12015+36G>T (n.12015+36G>T) c.3726+36G>T (n.3726+36G>T) c.11901+36G>T (n.11901+36G>T) c.12000+36G>T (n.12000+36G>T) c.11757+36G>T (n.11757+36G>T) c.11532+36G>T (n.11532+36G>T) c.9531+36G>T (n.9531+36G>T) c.8760+36G>T (n.8760+36G>T) c.6132+36G>T (n.6132+36G>T) c.5181+36G>T (n.5181+36G>T) | gnomAD v4 |
| 15 | g.28141400A= | CA2166479790 | HERC2 | c.12015+32T= (n.12015+32T=) c.3726+32T= (n.3726+32T=) c.11901+32T= (n.11901+32T=) c.12000+32T= (n.12000+32T=) c.11757+32T= (n.11757+32T=) c.11532+32T= (n.11532+32T=) c.9531+32T= (n.9531+32T=) c.8760+32T= (n.8760+32T=) c.6132+32T= (n.6132+32T=) c.5181+32T= (n.5181+32T=) | |
| 15 | g.28141400A>G | CA7440409 | HERC2 | c.12015+32T>C (n.12015+32T>C) c.3726+32T>C (n.3726+32T>C) c.11901+32T>C (n.11901+32T>C) c.12000+32T>C (n.12000+32T>C) c.11757+32T>C (n.11757+32T>C) c.11532+32T>C (n.11532+32T>C) c.9531+32T>C (n.9531+32T>C) c.8760+32T>C (n.8760+32T>C) c.6132+32T>C (n.6132+32T>C) c.5181+32T>C (n.5181+32T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.28141401T>C | CA7440410 | HERC2 | c.12015+31A>G (n.12015+31A>G) c.3726+31A>G (n.3726+31A>G) c.11901+31A>G (n.11901+31A>G) c.12000+31A>G (n.12000+31A>G) c.11757+31A>G (n.11757+31A>G) c.11532+31A>G (n.11532+31A>G) c.9531+31A>G (n.9531+31A>G) c.8760+31A>G (n.8760+31A>G) c.6132+31A>G (n.6132+31A>G) c.5181+31A>G (n.5181+31A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.28141401T= | CA2166479792 | HERC2 | c.12015+31A= (n.12015+31A=) c.3726+31A= (n.3726+31A=) c.11901+31A= (n.11901+31A=) c.12000+31A= (n.12000+31A=) c.11757+31A= (n.11757+31A=) c.11532+31A= (n.11532+31A=) c.9531+31A= (n.9531+31A=) c.8760+31A= (n.8760+31A=) c.6132+31A= (n.6132+31A=) c.5181+31A= (n.5181+31A=) | |
| 15 | g.28141402G>A | CA655846985 | HERC2 | c.12015+30C>T (n.12015+30C>T) c.3726+30C>T (n.3726+30C>T) c.11901+30C>T (n.11901+30C>T) c.12000+30C>T (n.12000+30C>T) c.11757+30C>T (n.11757+30C>T) c.11532+30C>T (n.11532+30C>T) c.9531+30C>T (n.9531+30C>T) c.8760+30C>T (n.8760+30C>T) c.6132+30C>T (n.6132+30C>T) c.5181+30C>T (n.5181+30C>T) | COSMIC |
| 15 | g.28141402G>T | CA2627386241 | HERC2 | c.12015+30C>A (n.12015+30C>A) c.3726+30C>A (n.3726+30C>A) c.11901+30C>A (n.11901+30C>A) c.12000+30C>A (n.12000+30C>A) c.11757+30C>A (n.11757+30C>A) c.11532+30C>A (n.11532+30C>A) c.9531+30C>A (n.9531+30C>A) c.8760+30C>A (n.8760+30C>A) c.6132+30C>A (n.6132+30C>A) c.5181+30C>A (n.5181+30C>A) | gnomAD v4 |
| 15 | g.28141403A>G | CA2627386242 | HERC2 | c.12015+29T>C (n.12015+29T>C) c.3726+29T>C (n.3726+29T>C) c.11901+29T>C (n.11901+29T>C) c.12000+29T>C (n.12000+29T>C) c.11757+29T>C (n.11757+29T>C) c.11532+29T>C (n.11532+29T>C) c.9531+29T>C (n.9531+29T>C) c.8760+29T>C (n.8760+29T>C) c.6132+29T>C (n.6132+29T>C) c.5181+29T>C (n.5181+29T>C) | gnomAD v4 |
| 15 | g.28141404C>A | CA2627386243 | HERC2 | c.12015+28G>T (n.12015+28G>T) c.3726+28G>T (n.3726+28G>T) c.11901+28G>T (n.11901+28G>T) c.12000+28G>T (n.12000+28G>T) c.11757+28G>T (n.11757+28G>T) c.11532+28G>T (n.11532+28G>T) c.9531+28G>T (n.9531+28G>T) c.8760+28G>T (n.8760+28G>T) c.6132+28G>T (n.6132+28G>T) c.5181+28G>T (n.5181+28G>T) | gnomAD v4 |
| 15 | g.28141406T>C | CA2166479795 | HERC2 | c.12015+26A>G (n.12015+26A>G) c.3726+26A>G (n.3726+26A>G) c.11901+26A>G (n.11901+26A>G) c.12000+26A>G (n.12000+26A>G) c.11757+26A>G (n.11757+26A>G) c.11532+26A>G (n.11532+26A>G) c.9531+26A>G (n.9531+26A>G) c.8760+26A>G (n.8760+26A>G) c.6132+26A>G (n.6132+26A>G) c.5181+26A>G (n.5181+26A>G) | dbSNP gnomAD v4 |
| 15 | g.28141406T= | CA2166479794 | HERC2 | c.12015+26A= (n.12015+26A=) c.3726+26A= (n.3726+26A=) c.11901+26A= (n.11901+26A=) c.12000+26A= (n.12000+26A=) c.11757+26A= (n.11757+26A=) c.11532+26A= (n.11532+26A=) c.9531+26A= (n.9531+26A=) c.8760+26A= (n.8760+26A=) c.6132+26A= (n.6132+26A=) c.5181+26A= (n.5181+26A=) | |
| 15 | g.28141407T>C | CA267945964 | HERC2 | c.12015+25A>G (n.12015+25A>G) c.3726+25A>G (n.3726+25A>G) c.11901+25A>G (n.11901+25A>G) c.12000+25A>G (n.12000+25A>G) c.11757+25A>G (n.11757+25A>G) c.11532+25A>G (n.11532+25A>G) c.9531+25A>G (n.9531+25A>G) c.8760+25A>G (n.8760+25A>G) c.6132+25A>G (n.6132+25A>G) c.5181+25A>G (n.5181+25A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.28141407T= | CA2166479797 | HERC2 | c.12015+25A= (n.12015+25A=) c.3726+25A= (n.3726+25A=) c.11901+25A= (n.11901+25A=) c.12000+25A= (n.12000+25A=) c.11757+25A= (n.11757+25A=) c.11532+25A= (n.11532+25A=) c.9531+25A= (n.9531+25A=) c.8760+25A= (n.8760+25A=) c.6132+25A= (n.6132+25A=) c.5181+25A= (n.5181+25A=) | |
| 15 | g.28141408G>A | CA2627386244 | HERC2 | c.12015+24C>T (n.12015+24C>T) c.3726+24C>T (n.3726+24C>T) c.11901+24C>T (n.11901+24C>T) c.12000+24C>T (n.12000+24C>T) c.11757+24C>T (n.11757+24C>T) c.11532+24C>T (n.11532+24C>T) c.9531+24C>T (n.9531+24C>T) c.8760+24C>T (n.8760+24C>T) c.6132+24C>T (n.6132+24C>T) c.5181+24C>T (n.5181+24C>T) | gnomAD v4 |
| 15 | g.28141408G>T | CA2627386245 | HERC2 | c.12015+24C>A (n.12015+24C>A) c.3726+24C>A (n.3726+24C>A) c.11901+24C>A (n.11901+24C>A) c.12000+24C>A (n.12000+24C>A) c.11757+24C>A (n.11757+24C>A) c.11532+24C>A (n.11532+24C>A) c.9531+24C>A (n.9531+24C>A) c.8760+24C>A (n.8760+24C>A) c.6132+24C>A (n.6132+24C>A) c.5181+24C>A (n.5181+24C>A) | dbSNP gnomAD v4 |
| 15 | g.28141409T>A | CA2627386246 | HERC2 | c.12015+23A>T (n.12015+23A>T) c.3726+23A>T (n.3726+23A>T) c.11901+23A>T (n.11901+23A>T) c.12000+23A>T (n.12000+23A>T) c.11757+23A>T (n.11757+23A>T) c.11532+23A>T (n.11532+23A>T) c.9531+23A>T (n.9531+23A>T) c.8760+23A>T (n.8760+23A>T) c.6132+23A>T (n.6132+23A>T) c.5181+23A>T (n.5181+23A>T) | gnomAD v4 |
| 15 | g.28141410G>A | CA7440411 | HERC2 | c.12015+22C>T (n.12015+22C>T) c.3726+22C>T (n.3726+22C>T) c.11901+22C>T (n.11901+22C>T) c.12000+22C>T (n.12000+22C>T) c.11757+22C>T (n.11757+22C>T) c.11532+22C>T (n.11532+22C>T) c.9531+22C>T (n.9531+22C>T) c.8760+22C>T (n.8760+22C>T) c.6132+22C>T (n.6132+22C>T) c.5181+22C>T (n.5181+22C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.28141410G>C | CA7440412 | HERC2 | c.12015+22C>G (n.12015+22C>G) c.3726+22C>G (n.3726+22C>G) c.11901+22C>G (n.11901+22C>G) c.12000+22C>G (n.12000+22C>G) c.11757+22C>G (n.11757+22C>G) c.11532+22C>G (n.11532+22C>G) c.9531+22C>G (n.9531+22C>G) c.8760+22C>G (n.8760+22C>G) c.6132+22C>G (n.6132+22C>G) c.5181+22C>G (n.5181+22C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.28141410G= | CA2166479799 | HERC2 | c.12015+22C= (n.12015+22C=) c.3726+22C= (n.3726+22C=) c.11901+22C= (n.11901+22C=) c.12000+22C= (n.12000+22C=) c.11757+22C= (n.11757+22C=) c.11532+22C= (n.11532+22C=) c.9531+22C= (n.9531+22C=) c.8760+22C= (n.8760+22C=) c.6132+22C= (n.6132+22C=) c.5181+22C= (n.5181+22C=) | |
| 15 | g.28141410G>T | CA2539306194 | HERC2 | c.12015+22C>A (n.12015+22C>A) c.3726+22C>A (n.3726+22C>A) c.11901+22C>A (n.11901+22C>A) c.12000+22C>A (n.12000+22C>A) c.11757+22C>A (n.11757+22C>A) c.11532+22C>A (n.11532+22C>A) c.9531+22C>A (n.9531+22C>A) c.8760+22C>A (n.8760+22C>A) c.6132+22C>A (n.6132+22C>A) c.5181+22C>A (n.5181+22C>A) | gnomAD v4 |
| 15 | g.28141411A= | CA2166479802 | HERC2 | c.12015+21T= (n.12015+21T=) c.3726+21T= (n.3726+21T=) c.11901+21T= (n.11901+21T=) c.12000+21T= (n.12000+21T=) c.11757+21T= (n.11757+21T=) c.11532+21T= (n.11532+21T=) c.9531+21T= (n.9531+21T=) c.8760+21T= (n.8760+21T=) c.6132+21T= (n.6132+21T=) c.5181+21T= (n.5181+21T=) | |
| 15 | g.28141411A>C | CA617086369 | HERC2 | c.12015+21T>G (n.12015+21T>G) c.3726+21T>G (n.3726+21T>G) c.11901+21T>G (n.11901+21T>G) c.12000+21T>G (n.12000+21T>G) c.11757+21T>G (n.11757+21T>G) c.11532+21T>G (n.11532+21T>G) c.9531+21T>G (n.9531+21T>G) c.8760+21T>G (n.8760+21T>G) c.6132+21T>G (n.6132+21T>G) c.5181+21T>G (n.5181+21T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.28141412C>G | CA2627386247 | HERC2 | c.12015+20G>C (n.12015+20G>C) c.3726+20G>C (n.3726+20G>C) c.11901+20G>C (n.11901+20G>C) c.12000+20G>C (n.12000+20G>C) c.11757+20G>C (n.11757+20G>C) c.11532+20G>C (n.11532+20G>C) c.9531+20G>C (n.9531+20G>C) c.8760+20G>C (n.8760+20G>C) c.6132+20G>C (n.6132+20G>C) c.5181+20G>C (n.5181+20G>C) | gnomAD v4 |
| 15 | g.28141412_28141414delinsCAT | CA2166479803 | HERC2 | c.12015+18_12015+20delinsATG (n.12015+18_12015+20delinsATG) c.3726+18_3726+20delinsATG (n.3726+18_3726+20delinsATG) c.11901+18_11901+20delinsATG (n.11901+18_11901+20delinsATG) c.12000+18_12000+20delinsATG (n.12000+18_12000+20delinsATG) c.11757+18_11757+20delinsATG (n.11757+18_11757+20delinsATG) c.11532+18_11532+20delinsATG (n.11532+18_11532+20delinsATG) c.9531+18_9531+20delinsATG (n.9531+18_9531+20delinsATG) c.8760+18_8760+20delinsATG (n.8760+18_8760+20delinsATG) c.6132+18_6132+20delinsATG (n.6132+18_6132+20delinsATG) c.5181+18_5181+20delinsATG (n.5181+18_5181+20delinsATG) | |
| 15 | g.28141414_28141415del | CA2166479804 | HERC2 | c.12015+18_12015+19del (n.12015+18_12015+19del) c.3726+18_3726+19del (n.3726+18_3726+19del) c.11901+18_11901+19del (n.11901+18_11901+19del) c.12000+18_12000+19del (n.12000+18_12000+19del) c.11757+18_11757+19del (n.11757+18_11757+19del) c.11532+18_11532+19del (n.11532+18_11532+19del) c.9531+18_9531+19del (n.9531+18_9531+19del) c.8760+18_8760+19del (n.8760+18_8760+19del) c.6132+18_6132+19del (n.6132+18_6132+19del) c.5181+18_5181+19del (n.5181+18_5181+19del) | dbSNP |
| 15 | g.28141414T>C | CA7440413 | HERC2 | c.12015+18A>G (n.12015+18A>G) c.3726+18A>G (n.3726+18A>G) c.11901+18A>G (n.11901+18A>G) c.12000+18A>G (n.12000+18A>G) c.11757+18A>G (n.11757+18A>G) c.11532+18A>G (n.11532+18A>G) c.9531+18A>G (n.9531+18A>G) c.8760+18A>G (n.8760+18A>G) c.6132+18A>G (n.6132+18A>G) c.5181+18A>G (n.5181+18A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.28141414T= | CA2166479806 | HERC2 | c.12015+18A= (n.12015+18A=) c.3726+18A= (n.3726+18A=) c.11901+18A= (n.11901+18A=) c.12000+18A= (n.12000+18A=) c.11757+18A= (n.11757+18A=) c.11532+18A= (n.11532+18A=) c.9531+18A= (n.9531+18A=) c.8760+18A= (n.8760+18A=) c.6132+18A= (n.6132+18A=) c.5181+18A= (n.5181+18A=) | |
| 15 | g.28141417A= | CA2166479807 | HERC2 | c.12015+15T= (n.12015+15T=) c.3726+15T= (n.3726+15T=) c.11901+15T= (n.11901+15T=) c.12000+15T= (n.12000+15T=) c.11757+15T= (n.11757+15T=) c.11532+15T= (n.11532+15T=) c.9531+15T= (n.9531+15T=) c.8760+15T= (n.8760+15T=) c.6132+15T= (n.6132+15T=) c.5181+15T= (n.5181+15T=) | |
| 15 | g.28141417A>G | CA617086370 | HERC2 | c.12015+15T>C (n.12015+15T>C) c.3726+15T>C (n.3726+15T>C) c.11901+15T>C (n.11901+15T>C) c.12000+15T>C (n.12000+15T>C) c.11757+15T>C (n.11757+15T>C) c.11532+15T>C (n.11532+15T>C) c.9531+15T>C (n.9531+15T>C) c.8760+15T>C (n.8760+15T>C) c.6132+15T>C (n.6132+15T>C) c.5181+15T>C (n.5181+15T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.28141419A= | CA2166479809 | HERC2 | c.12015+13T= (n.12015+13T=) c.3726+13T= (n.3726+13T=) c.11901+13T= (n.11901+13T=) c.12000+13T= (n.12000+13T=) c.11757+13T= (n.11757+13T=) c.11532+13T= (n.11532+13T=) c.9531+13T= (n.9531+13T=) c.8760+13T= (n.8760+13T=) c.6132+13T= (n.6132+13T=) c.5181+13T= (n.5181+13T=) | |
| 15 | g.28141419A>G | CA7440414 | HERC2 | c.12015+13T>C (n.12015+13T>C) c.3726+13T>C (n.3726+13T>C) c.11901+13T>C (n.11901+13T>C) c.12000+13T>C (n.12000+13T>C) c.11757+13T>C (n.11757+13T>C) c.11532+13T>C (n.11532+13T>C) c.9531+13T>C (n.9531+13T>C) c.8760+13T>C (n.8760+13T>C) c.6132+13T>C (n.6132+13T>C) c.5181+13T>C (n.5181+13T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.28141422G>C | CA2575653851 | HERC2 | c.12015+10C>G (n.12015+10C>G) c.3726+10C>G (n.3726+10C>G) c.11901+10C>G (n.11901+10C>G) c.12000+10C>G (n.12000+10C>G) c.11757+10C>G (n.11757+10C>G) c.11532+10C>G (n.11532+10C>G) c.9531+10C>G (n.9531+10C>G) c.8760+10C>G (n.8760+10C>G) c.6132+10C>G (n.6132+10C>G) c.5181+10C>G (n.5181+10C>G) | |
| 15 | g.28141424G>T | CA2627386248 | HERC2 | c.12015+8C>A (n.12015+8C>A) c.3726+8C>A (n.3726+8C>A) c.11901+8C>A (n.11901+8C>A) c.12000+8C>A (n.12000+8C>A) c.11757+8C>A (n.11757+8C>A) c.11532+8C>A (n.11532+8C>A) c.9531+8C>A (n.9531+8C>A) c.8760+8C>A (n.8760+8C>A) c.6132+8C>A (n.6132+8C>A) c.5181+8C>A (n.5181+8C>A) | gnomAD v4 |
| 15 | g.28141426T>C | CA2803510922 | HERC2 | c.12015+6A>G (n.12015+6A>G) c.3726+6A>G (n.3726+6A>G) c.11901+6A>G (n.11901+6A>G) c.12000+6A>G (n.12000+6A>G) c.11757+6A>G (n.11757+6A>G) c.11532+6A>G (n.11532+6A>G) c.9531+6A>G (n.9531+6A>G) c.8760+6A>G (n.8760+6A>G) c.6132+6A>G (n.6132+6A>G) c.5181+6A>G (n.5181+6A>G) | |
| 15 | g.28141427C>T | CA2803510923 | HERC2 | c.12015+5G>A (n.12015+5G>A) c.3726+5G>A (n.3726+5G>A) c.11901+5G>A (n.11901+5G>A) c.12000+5G>A (n.12000+5G>A) c.11757+5G>A (n.11757+5G>A) c.11532+5G>A (n.11532+5G>A) c.9531+5G>A (n.9531+5G>A) c.8760+5G>A (n.8760+5G>A) c.6132+5G>A (n.6132+5G>A) c.5181+5G>A (n.5181+5G>A) | |
| 15 | g.28141428T>C | CA617086371 | HERC2 | c.12015+4A>G (n.12015+4A>G) c.3726+4A>G (n.3726+4A>G) c.11901+4A>G (n.11901+4A>G) c.12000+4A>G (n.12000+4A>G) c.11757+4A>G (n.11757+4A>G) c.11532+4A>G (n.11532+4A>G) c.9531+4A>G (n.9531+4A>G) c.8760+4A>G (n.8760+4A>G) c.6132+4A>G (n.6132+4A>G) c.5181+4A>G (n.5181+4A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.28141428T>G | CA617086372 | HERC2 | c.12015+4A>C (n.12015+4A>C) c.3726+4A>C (n.3726+4A>C) c.11901+4A>C (n.11901+4A>C) c.12000+4A>C (n.12000+4A>C) c.11757+4A>C (n.11757+4A>C) c.11532+4A>C (n.11532+4A>C) c.9531+4A>C (n.9531+4A>C) c.8760+4A>C (n.8760+4A>C) c.6132+4A>C (n.6132+4A>C) c.5181+4A>C (n.5181+4A>C) | dbSNP gnomAD v2 |
| 15 | g.28141428T= | CA2166479811 | HERC2 | c.12015+4A= (n.12015+4A=) c.3726+4A= (n.3726+4A=) c.11901+4A= (n.11901+4A=) c.12000+4A= (n.12000+4A=) c.11757+4A= (n.11757+4A=) c.11532+4A= (n.11532+4A=) c.9531+4A= (n.9531+4A=) c.8760+4A= (n.8760+4A=) c.6132+4A= (n.6132+4A=) c.5181+4A= (n.5181+4A=) | |
| 15 | g.28141430A>C | CA391380779 | HERC2 | c.12015+2T>G (n.12015+2T>G) c.3726+2T>G (n.3726+2T>G) c.11901+2T>G (n.11901+2T>G) c.12000+2T>G (n.12000+2T>G) c.11757+2T>G (n.11757+2T>G) c.11532+2T>G (n.11532+2T>G) c.9531+2T>G (n.9531+2T>G) c.8760+2T>G (n.8760+2T>G) c.6132+2T>G (n.6132+2T>G) c.5181+2T>G (n.5181+2T>G) | |
| 15 | g.28141430A>G | CA391380771 | HERC2 | c.12015+2T>C (n.12015+2T>C) c.3726+2T>C (n.3726+2T>C) c.11901+2T>C (n.11901+2T>C) c.12000+2T>C (n.12000+2T>C) c.11757+2T>C (n.11757+2T>C) c.11532+2T>C (n.11532+2T>C) c.9531+2T>C (n.9531+2T>C) c.8760+2T>C (n.8760+2T>C) c.6132+2T>C (n.6132+2T>C) c.5181+2T>C (n.5181+2T>C) | |
| 15 | g.28141430A>T | CA391380773 | HERC2 | c.12015+2T>A (n.12015+2T>A) c.3726+2T>A (n.3726+2T>A) c.11901+2T>A (n.11901+2T>A) c.12000+2T>A (n.12000+2T>A) c.11757+2T>A (n.11757+2T>A) c.11532+2T>A (n.11532+2T>A) c.9531+2T>A (n.9531+2T>A) c.8760+2T>A (n.8760+2T>A) c.6132+2T>A (n.6132+2T>A) c.5181+2T>A (n.5181+2T>A) | |
| 15 | g.28141431C>A | CA391380782 | HERC2 | c.12015+1G>T (n.12015+1G>T) c.3726+1G>T (n.3726+1G>T) c.11901+1G>T (n.11901+1G>T) c.12000+1G>T (n.12000+1G>T) c.11757+1G>T (n.11757+1G>T) c.11532+1G>T (n.11532+1G>T) c.9531+1G>T (n.9531+1G>T) c.8760+1G>T (n.8760+1G>T) c.6132+1G>T (n.6132+1G>T) c.5181+1G>T (n.5181+1G>T) | |
| 15 | g.28141431C>G | CA391380784 | HERC2 | c.12015+1G>C (n.12015+1G>C) c.3726+1G>C (n.3726+1G>C) c.11901+1G>C (n.11901+1G>C) c.12000+1G>C (n.12000+1G>C) c.11757+1G>C (n.11757+1G>C) c.11532+1G>C (n.11532+1G>C) c.9531+1G>C (n.9531+1G>C) c.8760+1G>C (n.8760+1G>C) c.6132+1G>C (n.6132+1G>C) c.5181+1G>C (n.5181+1G>C) | |
| 15 | g.28141431C>T | CA391380787 | HERC2 | c.12015+1G>A (n.12015+1G>A) c.3726+1G>A (n.3726+1G>A) c.11901+1G>A (n.11901+1G>A) c.12000+1G>A (n.12000+1G>A) c.11757+1G>A (n.11757+1G>A) c.11532+1G>A (n.11532+1G>A) c.9531+1G>A (n.9531+1G>A) c.8760+1G>A (n.8760+1G>A) c.6132+1G>A (n.6132+1G>A) c.5181+1G>A (n.5181+1G>A) | |
| 15 | g.28141432C>A | CA391380790 | HERC2 | c.12015G>T (p.Lys4005Asn) c.3726G>T (p.Lys1242Asn) c.11901G>T (p.Lys3967Asn) c.12000G>T (p.Lys4000Asn) c.11757G>T (p.Lys3919Asn) c.11532G>T (p.Lys3844Asn) c.9531G>T (p.Lys3177Asn) c.8760G>T (p.Lys2920Asn) c.6132G>T (p.Lys2044Asn) c.5181G>T (p.Lys1727Asn) | |
| 15 | g.28141432C>G | CA391380793 | HERC2 | c.12015G>C (p.Lys4005Asn) c.3726G>C (p.Lys1242Asn) c.11901G>C (p.Lys3967Asn) c.12000G>C (p.Lys4000Asn) c.11757G>C (p.Lys3919Asn) c.11532G>C (p.Lys3844Asn) c.9531G>C (p.Lys3177Asn) c.8760G>C (p.Lys2920Asn) c.6132G>C (p.Lys2044Asn) c.5181G>C (p.Lys1727Asn) | |
| 15 | g.28141432C>T | CA489234628 | HERC2 | c.12015G>A (p.Lys4005=) c.3726G>A (p.Lys1242=) c.11901G>A (p.Lys3967=) c.12000G>A (p.Lys4000=) c.11757G>A (p.Lys3919=) c.11532G>A (p.Lys3844=) c.9531G>A (p.Lys3177=) c.8760G>A (p.Lys2920=) c.6132G>A (p.Lys2044=) c.5181G>A (p.Lys1727=) | |
| 15 | g.28141433T>A | CA391380797 | HERC2 | c.12014A>T (p.Lys4005Met) c.3725A>T (p.Lys1242Met) c.11900A>T (p.Lys3967Met) c.11999A>T (p.Lys4000Met) c.11756A>T (p.Lys3919Met) c.11531A>T (p.Lys3844Met) c.9530A>T (p.Lys3177Met) c.8759A>T (p.Lys2920Met) c.6131A>T (p.Lys2044Met) c.5180A>T (p.Lys1727Met) | |
| 15 | g.28141433T>C | CA391380799 | HERC2 | c.12014A>G (p.Lys4005Arg) c.3725A>G (p.Lys1242Arg) c.11900A>G (p.Lys3967Arg) c.11999A>G (p.Lys4000Arg) c.11756A>G (p.Lys3919Arg) c.11531A>G (p.Lys3844Arg) c.9530A>G (p.Lys3177Arg) c.8759A>G (p.Lys2920Arg) c.6131A>G (p.Lys2044Arg) c.5180A>G (p.Lys1727Arg) | |
| 15 | g.28141433T>G | CA391380802 | HERC2 | c.12014A>C (p.Lys4005Thr) c.3725A>C (p.Lys1242Thr) c.11900A>C (p.Lys3967Thr) c.11999A>C (p.Lys4000Thr) c.11756A>C (p.Lys3919Thr) c.11531A>C (p.Lys3844Thr) c.9530A>C (p.Lys3177Thr) c.8759A>C (p.Lys2920Thr) c.6131A>C (p.Lys2044Thr) c.5180A>C (p.Lys1727Thr) | ClinVar |
| 15 | g.28141434T>A | CA391380805 | HERC2 | c.12013A>T (p.Lys4005Ter) c.3724A>T (p.Lys1242Ter) c.11899A>T (p.Lys3967Ter) c.11998A>T (p.Lys4000Ter) c.11755A>T (p.Lys3919Ter) c.11530A>T (p.Lys3844Ter) c.9529A>T (p.Lys3177Ter) c.8758A>T (p.Lys2920Ter) c.6130A>T (p.Lys2044Ter) c.5179A>T (p.Lys1727Ter) | |
| 15 | g.28141434T>C | CA391380808 | HERC2 | c.12013A>G (p.Lys4005Glu) c.3724A>G (p.Lys1242Glu) c.11899A>G (p.Lys3967Glu) c.11998A>G (p.Lys4000Glu) c.11755A>G (p.Lys3919Glu) c.11530A>G (p.Lys3844Glu) c.9529A>G (p.Lys3177Glu) c.8758A>G (p.Lys2920Glu) c.6130A>G (p.Lys2044Glu) c.5179A>G (p.Lys1727Glu) | |
| 15 | g.28141434T>G | CA391380810 | HERC2 | c.12013A>C (p.Lys4005Gln) c.3724A>C (p.Lys1242Gln) c.11899A>C (p.Lys3967Gln) c.11998A>C (p.Lys4000Gln) c.11755A>C (p.Lys3919Gln) c.11530A>C (p.Lys3844Gln) c.9529A>C (p.Lys3177Gln) c.8758A>C (p.Lys2920Gln) c.6130A>C (p.Lys2044Gln) c.5179A>C (p.Lys1727Gln) | |
| 15 | g.28141435C>A | CA489234631 | HERC2 | c.12012G>T (p.Gly4004=) c.3723G>T (p.Gly1241=) c.11898G>T (p.Gly3966=) c.11997G>T (p.Gly3999=) c.11754G>T (p.Gly3918=) c.11529G>T (p.Gly3843=) c.9528G>T (p.Gly3176=) c.8757G>T (p.Gly2919=) c.6129G>T (p.Gly2043=) c.5178G>T (p.Gly1726=) | |
| 15 | g.28141435C= | CA2166479813 | HERC2 | c.12012G= (p.Gly4004=) c.3723G= (p.Gly1241=) c.11898G= (p.Gly3966=) c.11997G= (p.Gly3999=) c.11754G= (p.Gly3918=) c.11529G= (p.Gly3843=) c.9528G= (p.Gly3176=) c.8757G= (p.Gly2919=) c.6129G= (p.Gly2043=) c.5178G= (p.Gly1726=) | |
| 15 | g.28141435C>G | CA489234632 | HERC2 | c.12012G>C (p.Gly4004=) c.3723G>C (p.Gly1241=) c.11898G>C (p.Gly3966=) c.11997G>C (p.Gly3999=) c.11754G>C (p.Gly3918=) c.11529G>C (p.Gly3843=) c.9528G>C (p.Gly3176=) c.8757G>C (p.Gly2919=) c.6129G>C (p.Gly2043=) c.5178G>C (p.Gly1726=) | |
| 15 | g.28141435C>T | CA489234633 | HERC2 | c.12012G>A (p.Gly4004=) c.3723G>A (p.Gly1241=) c.11898G>A (p.Gly3966=) c.11997G>A (p.Gly3999=) c.11754G>A (p.Gly3918=) c.11529G>A (p.Gly3843=) c.9528G>A (p.Gly3176=) c.8757G>A (p.Gly2919=) c.6129G>A (p.Gly2043=) c.5178G>A (p.Gly1726=) | dbSNP |
| 15 | g.28141436C>A | CA391380815 | HERC2 | c.12011G>T (p.Gly4004Val) c.3722G>T (p.Gly1241Val) c.11897G>T (p.Gly3966Val) c.11996G>T (p.Gly3999Val) c.11753G>T (p.Gly3918Val) c.11528G>T (p.Gly3843Val) c.9527G>T (p.Gly3176Val) c.8756G>T (p.Gly2919Val) c.6128G>T (p.Gly2043Val) c.5177G>T (p.Gly1726Val) | |
| 15 | g.28141436C>G | CA391380812 | HERC2 | c.12011G>C (p.Gly4004Ala) c.3722G>C (p.Gly1241Ala) c.11897G>C (p.Gly3966Ala) c.11996G>C (p.Gly3999Ala) c.11753G>C (p.Gly3918Ala) c.11528G>C (p.Gly3843Ala) c.9527G>C (p.Gly3176Ala) c.8756G>C (p.Gly2919Ala) c.6128G>C (p.Gly2043Ala) c.5177G>C (p.Gly1726Ala) | |
| 15 | g.28141436C>T | CA391380811 | HERC2 | c.12011G>A (p.Gly4004Glu) c.3722G>A (p.Gly1241Glu) c.11897G>A (p.Gly3966Glu) c.11996G>A (p.Gly3999Glu) c.11753G>A (p.Gly3918Glu) c.11528G>A (p.Gly3843Glu) c.9527G>A (p.Gly3176Glu) c.8756G>A (p.Gly2919Glu) c.6128G>A (p.Gly2043Glu) c.5177G>A (p.Gly1726Glu) | |
| 15 | g.28141437C>A | CA391380819 | HERC2 | c.12010G>T (p.Gly4004Trp) c.3721G>T (p.Gly1241Trp) c.11896G>T (p.Gly3966Trp) c.11995G>T (p.Gly3999Trp) c.11752G>T (p.Gly3918Trp) c.11527G>T (p.Gly3843Trp) c.9526G>T (p.Gly3176Trp) c.8755G>T (p.Gly2919Trp) c.6127G>T (p.Gly2043Trp) c.5176G>T (p.Gly1726Trp) | |
| 15 | g.28141437C>G | CA391380821 | HERC2 | c.12010G>C (p.Gly4004Arg) c.3721G>C (p.Gly1241Arg) c.11896G>C (p.Gly3966Arg) c.11995G>C (p.Gly3999Arg) c.11752G>C (p.Gly3918Arg) c.11527G>C (p.Gly3843Arg) c.9526G>C (p.Gly3176Arg) c.8755G>C (p.Gly2919Arg) c.6127G>C (p.Gly2043Arg) c.5176G>C (p.Gly1726Arg) | |
| 15 | g.28141437C>T | CA391380822 | HERC2 | c.12010G>A (p.Gly4004Arg) c.3721G>A (p.Gly1241Arg) c.11896G>A (p.Gly3966Arg) c.11995G>A (p.Gly3999Arg) c.11752G>A (p.Gly3918Arg) c.11527G>A (p.Gly3843Arg) c.9526G>A (p.Gly3176Arg) c.8755G>A (p.Gly2919Arg) c.6127G>A (p.Gly2043Arg) c.5176G>A (p.Gly1726Arg) | COSMIC COSMIC |
| 15 | g.28141438A>C | CA391380825 | HERC2 | c.12009T>G (p.Asp4003Glu) c.3720T>G (p.Asp1240Glu) c.11895T>G (p.Asp3965Glu) c.11994T>G (p.Asp3998Glu) c.11751T>G (p.Asp3917Glu) c.11526T>G (p.Asp3842Glu) c.9525T>G (p.Asp3175Glu) c.8754T>G (p.Asp2918Glu) c.6126T>G (p.Asp2042Glu) c.5175T>G (p.Asp1725Glu) | |
| 15 | g.28141438A>G | CA489234636 | HERC2 | c.12009T>C (p.Asp4003=) c.3720T>C (p.Asp1240=) c.11895T>C (p.Asp3965=) c.11994T>C (p.Asp3998=) c.11751T>C (p.Asp3917=) c.11526T>C (p.Asp3842=) c.9525T>C (p.Asp3175=) c.8754T>C (p.Asp2918=) c.6126T>C (p.Asp2042=) c.5175T>C (p.Asp1725=) | |
| 15 | g.28141438A>T | CA391380827 | HERC2 | c.12009T>A (p.Asp4003Glu) c.3720T>A (p.Asp1240Glu) c.11895T>A (p.Asp3965Glu) c.11994T>A (p.Asp3998Glu) c.11751T>A (p.Asp3917Glu) c.11526T>A (p.Asp3842Glu) c.9525T>A (p.Asp3175Glu) c.8754T>A (p.Asp2918Glu) c.6126T>A (p.Asp2042Glu) c.5175T>A (p.Asp1725Glu) | |
| 15 | g.28141439T>A | CA7440415 | HERC2 | c.12008A>T (p.Asp4003Val) c.3719A>T (p.Asp1240Val) c.11894A>T (p.Asp3965Val) c.11993A>T (p.Asp3998Val) c.11750A>T (p.Asp3917Val) c.11525A>T (p.Asp3842Val) c.9524A>T (p.Asp3175Val) c.8753A>T (p.Asp2918Val) c.6125A>T (p.Asp2042Val) c.5174A>T (p.Asp1725Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.28141439T>C | CA391380834 | HERC2 | c.12008A>G (p.Asp4003Gly) c.3719A>G (p.Asp1240Gly) c.11894A>G (p.Asp3965Gly) c.11993A>G (p.Asp3998Gly) c.11750A>G (p.Asp3917Gly) c.11525A>G (p.Asp3842Gly) c.9524A>G (p.Asp3175Gly) c.8753A>G (p.Asp2918Gly) c.6125A>G (p.Asp2042Gly) c.5174A>G (p.Asp1725Gly) | |
| 15 | g.28141439T>G | CA391380836 | HERC2 | c.12008A>C (p.Asp4003Ala) c.3719A>C (p.Asp1240Ala) c.11894A>C (p.Asp3965Ala) c.11993A>C (p.Asp3998Ala) c.11750A>C (p.Asp3917Ala) c.11525A>C (p.Asp3842Ala) c.9524A>C (p.Asp3175Ala) c.8753A>C (p.Asp2918Ala) c.6125A>C (p.Asp2042Ala) c.5174A>C (p.Asp1725Ala) | |
| 15 | g.28141439T= | CA2166479815 | HERC2 | c.12008A= (p.Asp4003=) c.3719A= (p.Asp1240=) c.11894A= (p.Asp3965=) c.11993A= (p.Asp3998=) c.11750A= (p.Asp3917=) c.11525A= (p.Asp3842=) c.9524A= (p.Asp3175=) c.8753A= (p.Asp2918=) c.6125A= (p.Asp2042=) c.5174A= (p.Asp1725=) | |
| 15 | g.28141440C>A | CA391380841 | HERC2 | c.12007G>T (p.Asp4003Tyr) c.3718G>T (p.Asp1240Tyr) c.11893G>T (p.Asp3965Tyr) c.11992G>T (p.Asp3998Tyr) c.11749G>T (p.Asp3917Tyr) c.11524G>T (p.Asp3842Tyr) c.9523G>T (p.Asp3175Tyr) c.8752G>T (p.Asp2918Tyr) c.6124G>T (p.Asp2042Tyr) c.5173G>T (p.Asp1725Tyr) | |
| 15 | g.28141440C>G | CA391380843 | HERC2 | c.12007G>C (p.Asp4003His) c.3718G>C (p.Asp1240His) c.11893G>C (p.Asp3965His) c.11992G>C (p.Asp3998His) c.11749G>C (p.Asp3917His) c.11524G>C (p.Asp3842His) c.9523G>C (p.Asp3175His) c.8752G>C (p.Asp2918His) c.6124G>C (p.Asp2042His) c.5173G>C (p.Asp1725His) | |
| 15 | g.28141440C>T | CA391380846 | HERC2 | c.12007G>A (p.Asp4003Asn) c.3718G>A (p.Asp1240Asn) c.11893G>A (p.Asp3965Asn) c.11992G>A (p.Asp3998Asn) c.11749G>A (p.Asp3917Asn) c.11524G>A (p.Asp3842Asn) c.9523G>A (p.Asp3175Asn) c.8752G>A (p.Asp2918Asn) c.6124G>A (p.Asp2042Asn) c.5173G>A (p.Asp1725Asn) | |
| 15 | g.28141441A>C | CA489234641 | HERC2 | c.12006T>G (p.Ala4002=) c.3717T>G (p.Ala1239=) c.11892T>G (p.Ala3964=) c.11991T>G (p.Ala3997=) c.11748T>G (p.Ala3916=) c.11523T>G (p.Ala3841=) c.9522T>G (p.Ala3174=) c.8751T>G (p.Ala2917=) c.6123T>G (p.Ala2041=) c.5172T>G (p.Ala1724=) | |
| 15 | g.28141441A>G | CA489234640 | HERC2 | c.12006T>C (p.Ala4002=) c.3717T>C (p.Ala1239=) c.11892T>C (p.Ala3964=) c.11991T>C (p.Ala3997=) c.11748T>C (p.Ala3916=) c.11523T>C (p.Ala3841=) c.9522T>C (p.Ala3174=) c.8751T>C (p.Ala2917=) c.6123T>C (p.Ala2041=) c.5172T>C (p.Ala1724=) | |
| 15 | g.28141441A>T | CA489234638 | HERC2 | c.12006T>A (p.Ala4002=) c.3717T>A (p.Ala1239=) c.11892T>A (p.Ala3964=) c.11991T>A (p.Ala3997=) c.11748T>A (p.Ala3916=) c.11523T>A (p.Ala3841=) c.9522T>A (p.Ala3174=) c.8751T>A (p.Ala2917=) c.6123T>A (p.Ala2041=) c.5172T>A (p.Ala1724=) | |
| 15 | g.28141442G>A | CA391380850 | HERC2 | c.12005C>T (p.Ala4002Val) c.3716C>T (p.Ala1239Val) c.11891C>T (p.Ala3964Val) c.11990C>T (p.Ala3997Val) c.11747C>T (p.Ala3916Val) c.11522C>T (p.Ala3841Val) c.9521C>T (p.Ala3174Val) c.8750C>T (p.Ala2917Val) c.6122C>T (p.Ala2041Val) c.5171C>T (p.Ala1724Val) | |
| 15 | g.28141442G>C | CA391380851 | HERC2 | c.12005C>G (p.Ala4002Gly) c.3716C>G (p.Ala1239Gly) c.11891C>G (p.Ala3964Gly) c.11990C>G (p.Ala3997Gly) c.11747C>G (p.Ala3916Gly) c.11522C>G (p.Ala3841Gly) c.9521C>G (p.Ala3174Gly) c.8750C>G (p.Ala2917Gly) c.6122C>G (p.Ala2041Gly) c.5171C>G (p.Ala1724Gly) | |
| 15 | g.28141442G>T | CA391380855 | HERC2 | c.12005C>A (p.Ala4002Asp) c.3716C>A (p.Ala1239Asp) c.11891C>A (p.Ala3964Asp) c.11990C>A (p.Ala3997Asp) c.11747C>A (p.Ala3916Asp) c.11522C>A (p.Ala3841Asp) c.9521C>A (p.Ala3174Asp) c.8750C>A (p.Ala2917Asp) c.6122C>A (p.Ala2041Asp) c.5171C>A (p.Ala1724Asp) | |
| 15 | g.28141443C>A | CA391380861 | HERC2 | c.12004G>T (p.Ala4002Ser) c.3715G>T (p.Ala1239Ser) c.11890G>T (p.Ala3964Ser) c.11989G>T (p.Ala3997Ser) c.11746G>T (p.Ala3916Ser) c.11521G>T (p.Ala3841Ser) c.9520G>T (p.Ala3174Ser) c.8749G>T (p.Ala2917Ser) c.6121G>T (p.Ala2041Ser) c.5170G>T (p.Ala1724Ser) | |
| 15 | g.28141443C= | CA2166479817 | HERC2 | c.12004G= (p.Ala4002=) c.3715G= (p.Ala1239=) c.11890G= (p.Ala3964=) c.11989G= (p.Ala3997=) c.11746G= (p.Ala3916=) c.11521G= (p.Ala3841=) c.9520G= (p.Ala3174=) c.8749G= (p.Ala2917=) c.6121G= (p.Ala2041=) c.5170G= (p.Ala1724=) | |
| 15 | g.28141443C>G | CA391380864 | HERC2 | c.12004G>C (p.Ala4002Pro) c.3715G>C (p.Ala1239Pro) c.11890G>C (p.Ala3964Pro) c.11989G>C (p.Ala3997Pro) c.11746G>C (p.Ala3916Pro) c.11521G>C (p.Ala3841Pro) c.9520G>C (p.Ala3174Pro) c.8749G>C (p.Ala2917Pro) c.6121G>C (p.Ala2041Pro) c.5170G>C (p.Ala1724Pro) | |
| 15 | g.28141443C>T | CA7440416 | HERC2 | c.12004G>A (p.Ala4002Thr) c.3715G>A (p.Ala1239Thr) c.11890G>A (p.Ala3964Thr) c.11989G>A (p.Ala3997Thr) c.11746G>A (p.Ala3916Thr) c.11521G>A (p.Ala3841Thr) c.9520G>A (p.Ala3174Thr) c.8749G>A (p.Ala2917Thr) c.6121G>A (p.Ala2041Thr) c.5170G>A (p.Ala1724Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.28141444C>A | CA489234644 | HERC2 | c.12003G>T (p.Thr4001=) c.3714G>T (p.Thr1238=) c.11889G>T (p.Thr3963=) c.11988G>T (p.Thr3996=) c.11745G>T (p.Thr3915=) c.11520G>T (p.Thr3840=) c.9519G>T (p.Thr3173=) c.8748G>T (p.Thr2916=) c.6120G>T (p.Thr2040=) c.5169G>T (p.Thr1723=) | |
| 15 | g.28141444C= | CA2166479820 | HERC2 | c.12003G= (p.Thr4001=) c.3714G= (p.Thr1238=) c.11889G= (p.Thr3963=) c.11988G= (p.Thr3996=) c.11745G= (p.Thr3915=) c.11520G= (p.Thr3840=) c.9519G= (p.Thr3173=) c.8748G= (p.Thr2916=) c.6120G= (p.Thr2040=) c.5169G= (p.Thr1723=) | |
| 15 | g.28141444C>G | CA267945985 | HERC2 | c.12003G>C (p.Thr4001=) c.3714G>C (p.Thr1238=) c.11889G>C (p.Thr3963=) c.11988G>C (p.Thr3996=) c.11745G>C (p.Thr3915=) c.11520G>C (p.Thr3840=) c.9519G>C (p.Thr3173=) c.8748G>C (p.Thr2916=) c.6120G>C (p.Thr2040=) c.5169G>C (p.Thr1723=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.28141444C>T | CA7440417 | HERC2 | c.12003G>A (p.Thr4001=) c.3714G>A (p.Thr1238=) c.11889G>A (p.Thr3963=) c.11988G>A (p.Thr3996=) c.11745G>A (p.Thr3915=) c.11520G>A (p.Thr3840=) c.9519G>A (p.Thr3173=) c.8748G>A (p.Thr2916=) c.6120G>A (p.Thr2040=) c.5169G>A (p.Thr1723=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.28141445G>A | CA7440418 | HERC2 | c.12002C>T (p.Thr4001Met) c.3713C>T (p.Thr1238Met) c.11888C>T (p.Thr3963Met) c.11987C>T (p.Thr3996Met) c.11744C>T (p.Thr3915Met) c.11519C>T (p.Thr3840Met) c.9518C>T (p.Thr3173Met) c.8747C>T (p.Thr2916Met) c.6119C>T (p.Thr2040Met) c.5168C>T (p.Thr1723Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.28141445G>C | CA391380872 | HERC2 | c.12002C>G (p.Thr4001Arg) c.3713C>G (p.Thr1238Arg) c.11888C>G (p.Thr3963Arg) c.11987C>G (p.Thr3996Arg) c.11744C>G (p.Thr3915Arg) c.11519C>G (p.Thr3840Arg) c.9518C>G (p.Thr3173Arg) c.8747C>G (p.Thr2916Arg) c.6119C>G (p.Thr2040Arg) c.5168C>G (p.Thr1723Arg) | |
| 15 | g.28141445G= | CA2166479822 | HERC2 | c.12002C= (p.Thr4001=) c.3713C= (p.Thr1238=) c.11888C= (p.Thr3963=) c.11987C= (p.Thr3996=) c.11744C= (p.Thr3915=) c.11519C= (p.Thr3840=) c.9518C= (p.Thr3173=) c.8747C= (p.Thr2916=) c.6119C= (p.Thr2040=) c.5168C= (p.Thr1723=) | |
| 15 | g.28141445G>T | CA391380873 | HERC2 | c.12002C>A (p.Thr4001Lys) c.3713C>A (p.Thr1238Lys) c.11888C>A (p.Thr3963Lys) c.11987C>A (p.Thr3996Lys) c.11744C>A (p.Thr3915Lys) c.11519C>A (p.Thr3840Lys) c.9518C>A (p.Thr3173Lys) c.8747C>A (p.Thr2916Lys) c.6119C>A (p.Thr2040Lys) c.5168C>A (p.Thr1723Lys) | |
| 15 | g.28141446T>A | CA391380879 | HERC2 | c.12001A>T (p.Thr4001Ser) c.3712A>T (p.Thr1238Ser) c.11887A>T (p.Thr3963Ser) c.11986A>T (p.Thr3996Ser) c.11743A>T (p.Thr3915Ser) c.11518A>T (p.Thr3840Ser) c.9517A>T (p.Thr3173Ser) c.8746A>T (p.Thr2916Ser) c.6118A>T (p.Thr2040Ser) c.5167A>T (p.Thr1723Ser) | |
| 15 | g.28141446T>C | CA391380880 | HERC2 | c.12001A>G (p.Thr4001Ala) c.3712A>G (p.Thr1238Ala) c.11887A>G (p.Thr3963Ala) c.11986A>G (p.Thr3996Ala) c.11743A>G (p.Thr3915Ala) c.11518A>G (p.Thr3840Ala) c.9517A>G (p.Thr3173Ala) c.8746A>G (p.Thr2916Ala) c.6118A>G (p.Thr2040Ala) c.5167A>G (p.Thr1723Ala) | |
| 15 | g.28141446T>G | CA391380882 | HERC2 | c.12001A>C (p.Thr4001Pro) c.3712A>C (p.Thr1238Pro) c.11887A>C (p.Thr3963Pro) c.11986A>C (p.Thr3996Pro) c.11743A>C (p.Thr3915Pro) c.11518A>C (p.Thr3840Pro) c.9517A>C (p.Thr3173Pro) c.8746A>C (p.Thr2916Pro) c.6118A>C (p.Thr2040Pro) c.5167A>C (p.Thr1723Pro) | |
| 15 | g.28141447C>A | CA489234646 | HERC2 | c.12000G>T (p.Val4000=) c.3711G>T (p.Val1237=) c.11886G>T (p.Val3962=) c.11985G>T (p.Val3995=) c.11742G>T (p.Val3914=) c.11517G>T (p.Val3839=) c.9516G>T (p.Val3172=) c.8745G>T (p.Val2915=) c.6117G>T (p.Val2039=) c.5166G>T (p.Val1722=) | |
| 15 | g.28141447C>G | CA489234647 | HERC2 | c.12000G>C (p.Val4000=) c.3711G>C (p.Val1237=) c.11886G>C (p.Val3962=) c.11985G>C (p.Val3995=) c.11742G>C (p.Val3914=) c.11517G>C (p.Val3839=) c.9516G>C (p.Val3172=) c.8745G>C (p.Val2915=) c.6117G>C (p.Val2039=) c.5166G>C (p.Val1722=) | |
| 15 | g.28141447C>T | CA489234648 | HERC2 | c.12000G>A (p.Val4000=) c.3711G>A (p.Val1237=) c.11886G>A (p.Val3962=) c.11985G>A (p.Val3995=) c.11742G>A (p.Val3914=) c.11517G>A (p.Val3839=) c.9516G>A (p.Val3172=) c.8745G>A (p.Val2915=) c.6117G>A (p.Val2039=) c.5166G>A (p.Val1722=) | |
| 15 | g.28141448A>C | CA391380884 | HERC2 | c.11999T>G (p.Val4000Gly) c.3710T>G (p.Val1237Gly) c.11885T>G (p.Val3962Gly) c.11984T>G (p.Val3995Gly) c.11741T>G (p.Val3914Gly) c.11516T>G (p.Val3839Gly) c.9515T>G (p.Val3172Gly) c.8744T>G (p.Val2915Gly) c.6116T>G (p.Val2039Gly) c.5165T>G (p.Val1722Gly) | |
| 15 | g.28141448A>G | CA391380886 | HERC2 | c.11999T>C (p.Val4000Ala) c.3710T>C (p.Val1237Ala) c.11885T>C (p.Val3962Ala) c.11984T>C (p.Val3995Ala) c.11741T>C (p.Val3914Ala) c.11516T>C (p.Val3839Ala) c.9515T>C (p.Val3172Ala) c.8744T>C (p.Val2915Ala) c.6116T>C (p.Val2039Ala) c.5165T>C (p.Val1722Ala) | COSMIC COSMIC |
| 15 | g.28141448A>T | CA391380888 | HERC2 | c.11999T>A (p.Val4000Glu) c.3710T>A (p.Val1237Glu) c.11885T>A (p.Val3962Glu) c.11984T>A (p.Val3995Glu) c.11741T>A (p.Val3914Glu) c.11516T>A (p.Val3839Glu) c.9515T>A (p.Val3172Glu) c.8744T>A (p.Val2915Glu) c.6116T>A (p.Val2039Glu) c.5165T>A (p.Val1722Glu) | |
| 15 | g.28141449C>A | CA391380895 | HERC2 | c.11998G>T (p.Val4000Leu) c.3709G>T (p.Val1237Leu) c.11884G>T (p.Val3962Leu) c.11983G>T (p.Val3995Leu) c.11740G>T (p.Val3914Leu) c.11515G>T (p.Val3839Leu) c.9514G>T (p.Val3172Leu) c.8743G>T (p.Val2915Leu) c.6115G>T (p.Val2039Leu) c.5164G>T (p.Val1722Leu) | |
| 15 | g.28141449C= | CA2166479824 | HERC2 | c.11998G= (p.Val4000=) c.3709G= (p.Val1237=) c.11884G= (p.Val3962=) c.11983G= (p.Val3995=) c.11740G= (p.Val3914=) c.11515G= (p.Val3839=) c.9514G= (p.Val3172=) c.8743G= (p.Val2915=) c.6115G= (p.Val2039=) c.5164G= (p.Val1722=) | |
| 15 | g.28141449C>G | CA391380892 | HERC2 | c.11998G>C (p.Val4000Leu) c.3709G>C (p.Val1237Leu) c.11884G>C (p.Val3962Leu) c.11983G>C (p.Val3995Leu) c.11740G>C (p.Val3914Leu) c.11515G>C (p.Val3839Leu) c.9514G>C (p.Val3172Leu) c.8743G>C (p.Val2915Leu) c.6115G>C (p.Val2039Leu) c.5164G>C (p.Val1722Leu) | |
| 15 | g.28141449C>T | CA7440419 | HERC2 | c.11998G>A (p.Val4000Met) c.3709G>A (p.Val1237Met) c.11884G>A (p.Val3962Met) c.11983G>A (p.Val3995Met) c.11740G>A (p.Val3914Met) c.11515G>A (p.Val3839Met) c.9514G>A (p.Val3172Met) c.8743G>A (p.Val2915Met) c.6115G>A (p.Val2039Met) c.5164G>A (p.Val1722Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.28141450A= | CA2166479826 | HERC2 | c.11997T= (p.Ala3999=) c.3708T= (p.Ala1236=) c.11883T= (p.Ala3961=) c.11982T= (p.Ala3994=) c.11739T= (p.Ala3913=) c.11514T= (p.Ala3838=) c.9513T= (p.Ala3171=) c.8742T= (p.Ala2914=) c.6114T= (p.Ala2038=) c.5163T= (p.Ala1721=) | |
| 15 | g.28141450A>C | CA489234650 | HERC2 | c.11997T>G (p.Ala3999=) c.3708T>G (p.Ala1236=) c.11883T>G (p.Ala3961=) c.11982T>G (p.Ala3994=) c.11739T>G (p.Ala3913=) c.11514T>G (p.Ala3838=) c.9513T>G (p.Ala3171=) c.8742T>G (p.Ala2914=) c.6114T>G (p.Ala2038=) c.5163T>G (p.Ala1721=) | |
| 15 | g.28141450A>G | CA489234651 | HERC2 | c.11997T>C (p.Ala3999=) c.3708T>C (p.Ala1236=) c.11883T>C (p.Ala3961=) c.11982T>C (p.Ala3994=) c.11739T>C (p.Ala3913=) c.11514T>C (p.Ala3838=) c.9513T>C (p.Ala3171=) c.8742T>C (p.Ala2914=) c.6114T>C (p.Ala2038=) c.5163T>C (p.Ala1721=) | |
| 15 | g.28141450A>T | CA7440420 | HERC2 | c.11997T>A (p.Ala3999=) c.3708T>A (p.Ala1236=) c.11883T>A (p.Ala3961=) c.11982T>A (p.Ala3994=) c.11739T>A (p.Ala3913=) c.11514T>A (p.Ala3838=) c.9513T>A (p.Ala3171=) c.8742T>A (p.Ala2914=) c.6114T>A (p.Ala2038=) c.5163T>A (p.Ala1721=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.28141451G>A | CA391380898 | HERC2 | c.11996C>T (p.Ala3999Val) c.3707C>T (p.Ala1236Val) c.11882C>T (p.Ala3961Val) c.11981C>T (p.Ala3994Val) c.11738C>T (p.Ala3913Val) c.11513C>T (p.Ala3838Val) c.9512C>T (p.Ala3171Val) c.8741C>T (p.Ala2914Val) c.6113C>T (p.Ala2038Val) c.5162C>T (p.Ala1721Val) | |
| 15 | g.28141451G>C | CA391380900 | HERC2 | c.11996C>G (p.Ala3999Gly) c.3707C>G (p.Ala1236Gly) c.11882C>G (p.Ala3961Gly) c.11981C>G (p.Ala3994Gly) c.11738C>G (p.Ala3913Gly) c.11513C>G (p.Ala3838Gly) c.9512C>G (p.Ala3171Gly) c.8741C>G (p.Ala2914Gly) c.6113C>G (p.Ala2038Gly) c.5162C>G (p.Ala1721Gly) | |
| 15 | g.28141451G>T | CA391380903 | HERC2 | c.11996C>A (p.Ala3999Asp) c.3707C>A (p.Ala1236Asp) c.11882C>A (p.Ala3961Asp) c.11981C>A (p.Ala3994Asp) c.11738C>A (p.Ala3913Asp) c.11513C>A (p.Ala3838Asp) c.9512C>A (p.Ala3171Asp) c.8741C>A (p.Ala2914Asp) c.6113C>A (p.Ala2038Asp) c.5162C>A (p.Ala1721Asp) | gnomAD v4 |
| 15 | g.28141452C>A | CA391380906 | HERC2 | c.11995G>T (p.Ala3999Ser) c.3706G>T (p.Ala1236Ser) c.11881G>T (p.Ala3961Ser) c.11980G>T (p.Ala3994Ser) c.11737G>T (p.Ala3913Ser) c.11512G>T (p.Ala3838Ser) c.9511G>T (p.Ala3171Ser) c.8740G>T (p.Ala2914Ser) c.6112G>T (p.Ala2038Ser) c.5161G>T (p.Ala1721Ser) | |
| 15 | g.28141452C>G | CA391380908 | HERC2 | c.11995G>C (p.Ala3999Pro) c.3706G>C (p.Ala1236Pro) c.11881G>C (p.Ala3961Pro) c.11980G>C (p.Ala3994Pro) c.11737G>C (p.Ala3913Pro) c.11512G>C (p.Ala3838Pro) c.9511G>C (p.Ala3171Pro) c.8740G>C (p.Ala2914Pro) c.6112G>C (p.Ala2038Pro) c.5161G>C (p.Ala1721Pro) | |
| 15 | g.28141452C>T | CA391380911 | HERC2 | c.11995G>A (p.Ala3999Thr) c.3706G>A (p.Ala1236Thr) c.11881G>A (p.Ala3961Thr) c.11980G>A (p.Ala3994Thr) c.11737G>A (p.Ala3913Thr) c.11512G>A (p.Ala3838Thr) c.9511G>A (p.Ala3171Thr) c.8740G>A (p.Ala2914Thr) c.6112G>A (p.Ala2038Thr) c.5161G>A (p.Ala1721Thr) | |
| 15 | g.28141453A>C | CA391380915 | HERC2 | c.11994T>G (p.Phe3998Leu) c.3705T>G (p.Phe1235Leu) c.11880T>G (p.Phe3960Leu) c.11979T>G (p.Phe3993Leu) c.11736T>G (p.Phe3912Leu) c.11511T>G (p.Phe3837Leu) c.9510T>G (p.Phe3170Leu) c.8739T>G (p.Phe2913Leu) c.6111T>G (p.Phe2037Leu) c.5160T>G (p.Phe1720Leu) | |
| 15 | g.28141453A>G | CA489234654 | HERC2 | c.11994T>C (p.Phe3998=) c.3705T>C (p.Phe1235=) c.11880T>C (p.Phe3960=) c.11979T>C (p.Phe3993=) c.11736T>C (p.Phe3912=) c.11511T>C (p.Phe3837=) c.9510T>C (p.Phe3170=) c.8739T>C (p.Phe2913=) c.6111T>C (p.Phe2037=) c.5160T>C (p.Phe1720=) | |
| 15 | g.28141453A>T | CA391380916 | HERC2 | c.11994T>A (p.Phe3998Leu) c.3705T>A (p.Phe1235Leu) c.11880T>A (p.Phe3960Leu) c.11979T>A (p.Phe3993Leu) c.11736T>A (p.Phe3912Leu) c.11511T>A (p.Phe3837Leu) c.9510T>A (p.Phe3170Leu) c.8739T>A (p.Phe2913Leu) c.6111T>A (p.Phe2037Leu) c.5160T>A (p.Phe1720Leu) | |
| 15 | g.28141454A>C | CA391380920 | HERC2 | c.11993T>G (p.Phe3998Cys) c.3704T>G (p.Phe1235Cys) c.11879T>G (p.Phe3960Cys) c.11978T>G (p.Phe3993Cys) c.11735T>G (p.Phe3912Cys) c.11510T>G (p.Phe3837Cys) c.9509T>G (p.Phe3170Cys) c.8738T>G (p.Phe2913Cys) c.6110T>G (p.Phe2037Cys) c.5159T>G (p.Phe1720Cys) | |
| 15 | g.28141454A>G | CA391380922 | HERC2 | c.11993T>C (p.Phe3998Ser) c.3704T>C (p.Phe1235Ser) c.11879T>C (p.Phe3960Ser) c.11978T>C (p.Phe3993Ser) c.11735T>C (p.Phe3912Ser) c.11510T>C (p.Phe3837Ser) c.9509T>C (p.Phe3170Ser) c.8738T>C (p.Phe2913Ser) c.6110T>C (p.Phe2037Ser) c.5159T>C (p.Phe1720Ser) | |
| 15 | g.28141454A>T | CA391380925 | HERC2 | c.11993T>A (p.Phe3998Tyr) c.3704T>A (p.Phe1235Tyr) c.11879T>A (p.Phe3960Tyr) c.11978T>A (p.Phe3993Tyr) c.11735T>A (p.Phe3912Tyr) c.11510T>A (p.Phe3837Tyr) c.9509T>A (p.Phe3170Tyr) c.8738T>A (p.Phe2913Tyr) c.6110T>A (p.Phe2037Tyr) c.5159T>A (p.Phe1720Tyr) | |
| 15 | g.28141455A= | CA2166479828 | HERC2 | c.11992T= (p.Phe3998=) c.3703T= (p.Phe1235=) c.11878T= (p.Phe3960=) c.11977T= (p.Phe3993=) c.11734T= (p.Phe3912=) c.11509T= (p.Phe3837=) c.9508T= (p.Phe3170=) c.8737T= (p.Phe2913=) c.6109T= (p.Phe2037=) c.5158T= (p.Phe1720=) | |
| 15 | g.28141455A>C | CA391380933 | HERC2 | c.11992T>G (p.Phe3998Val) c.3703T>G (p.Phe1235Val) c.11878T>G (p.Phe3960Val) c.11977T>G (p.Phe3993Val) c.11734T>G (p.Phe3912Val) c.11509T>G (p.Phe3837Val) c.9508T>G (p.Phe3170Val) c.8737T>G (p.Phe2913Val) c.6109T>G (p.Phe2037Val) c.5158T>G (p.Phe1720Val) | |
| 15 | g.28141455A>G | CA7440421 | HERC2 | c.11992T>C (p.Phe3998Leu) c.3703T>C (p.Phe1235Leu) c.11878T>C (p.Phe3960Leu) c.11977T>C (p.Phe3993Leu) c.11734T>C (p.Phe3912Leu) c.11509T>C (p.Phe3837Leu) c.9508T>C (p.Phe3170Leu) c.8737T>C (p.Phe2913Leu) c.6109T>C (p.Phe2037Leu) c.5158T>C (p.Phe1720Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.28141455A>T | CA391380929 | HERC2 | c.11992T>A (p.Phe3998Ile) c.3703T>A (p.Phe1235Ile) c.11878T>A (p.Phe3960Ile) c.11977T>A (p.Phe3993Ile) c.11734T>A (p.Phe3912Ile) c.11509T>A (p.Phe3837Ile) c.9508T>A (p.Phe3170Ile) c.8737T>A (p.Phe2913Ile) c.6109T>A (p.Phe2037Ile) c.5158T>A (p.Phe1720Ile) | |
| 15 | g.28141456G>A | CA489234656 | HERC2 | c.11991C>T (p.Leu3997=) c.3702C>T (p.Leu1234=) c.11877C>T (p.Leu3959=) c.11976C>T (p.Leu3992=) c.11733C>T (p.Leu3911=) c.11508C>T (p.Leu3836=) c.9507C>T (p.Leu3169=) c.8736C>T (p.Leu2912=) c.6108C>T (p.Leu2036=) c.5157C>T (p.Leu1719=) | COSMIC COSMIC |
| 15 | g.28141456G>C | CA489234657 | HERC2 | c.11991C>G (p.Leu3997=) c.3702C>G (p.Leu1234=) c.11877C>G (p.Leu3959=) c.11976C>G (p.Leu3992=) c.11733C>G (p.Leu3911=) c.11508C>G (p.Leu3836=) c.9507C>G (p.Leu3169=) c.8736C>G (p.Leu2912=) c.6108C>G (p.Leu2036=) c.5157C>G (p.Leu1719=) | ClinVar dbSNP |
| 15 | g.28141456G= | CA2166479831 | HERC2 | c.11991C= (p.Leu3997=) c.3702C= (p.Leu1234=) c.11877C= (p.Leu3959=) c.11976C= (p.Leu3992=) c.11733C= (p.Leu3911=) c.11508C= (p.Leu3836=) c.9507C= (p.Leu3169=) c.8736C= (p.Leu2912=) c.6108C= (p.Leu2036=) c.5157C= (p.Leu1719=) | |
| 15 | g.28141456G>T | CA489234658 | HERC2 | c.11991C>A (p.Leu3997=) c.3702C>A (p.Leu1234=) c.11877C>A (p.Leu3959=) c.11976C>A (p.Leu3992=) c.11733C>A (p.Leu3911=) c.11508C>A (p.Leu3836=) c.9507C>A (p.Leu3169=) c.8736C>A (p.Leu2912=) c.6108C>A (p.Leu2036=) c.5157C>A (p.Leu1719=) | gnomAD v4 |
| 15 | g.28141457A>C | CA391380936 | HERC2 | c.11990T>G (p.Leu3997Arg) c.3701T>G (p.Leu1234Arg) c.11876T>G (p.Leu3959Arg) c.11975T>G (p.Leu3992Arg) c.11732T>G (p.Leu3911Arg) c.11507T>G (p.Leu3836Arg) c.9506T>G (p.Leu3169Arg) c.8735T>G (p.Leu2912Arg) c.6107T>G (p.Leu2036Arg) c.5156T>G (p.Leu1719Arg) | |
| 15 | g.28141457A>G | CA391380941 | HERC2 | c.11990T>C (p.Leu3997Pro) c.3701T>C (p.Leu1234Pro) c.11876T>C (p.Leu3959Pro) c.11975T>C (p.Leu3992Pro) c.11732T>C (p.Leu3911Pro) c.11507T>C (p.Leu3836Pro) c.9506T>C (p.Leu3169Pro) c.8735T>C (p.Leu2912Pro) c.6107T>C (p.Leu2036Pro) c.5156T>C (p.Leu1719Pro) | |
| 15 | g.28141457A>T | CA391380938 | HERC2 | c.11990T>A (p.Leu3997His) c.3701T>A (p.Leu1234His) c.11876T>A (p.Leu3959His) c.11975T>A (p.Leu3992His) c.11732T>A (p.Leu3911His) c.11507T>A (p.Leu3836His) c.9506T>A (p.Leu3169His) c.8735T>A (p.Leu2912His) c.6107T>A (p.Leu2036His) c.5156T>A (p.Leu1719His) | |
| 15 | g.28141458G>A | CA391380945 | HERC2 | c.11989C>T (p.Leu3997Phe) c.3700C>T (p.Leu1234Phe) c.11875C>T (p.Leu3959Phe) c.11974C>T (p.Leu3992Phe) c.11731C>T (p.Leu3911Phe) c.11506C>T (p.Leu3836Phe) c.9505C>T (p.Leu3169Phe) c.8734C>T (p.Leu2912Phe) c.6106C>T (p.Leu2036Phe) c.5155C>T (p.Leu1719Phe) | |
| 15 | g.28141458G>C | CA391380950 | HERC2 | c.11989C>G (p.Leu3997Val) c.3700C>G (p.Leu1234Val) c.11875C>G (p.Leu3959Val) c.11974C>G (p.Leu3992Val) c.11731C>G (p.Leu3911Val) c.11506C>G (p.Leu3836Val) c.9505C>G (p.Leu3169Val) c.8734C>G (p.Leu2912Val) c.6106C>G (p.Leu2036Val) c.5155C>G (p.Leu1719Val) | |
| 15 | g.28141458G>T | CA391380947 | HERC2 | c.11989C>A (p.Leu3997Ile) c.3700C>A (p.Leu1234Ile) c.11875C>A (p.Leu3959Ile) c.11974C>A (p.Leu3992Ile) c.11731C>A (p.Leu3911Ile) c.11506C>A (p.Leu3836Ile) c.9505C>A (p.Leu3169Ile) c.8734C>A (p.Leu2912Ile) c.6106C>A (p.Leu2036Ile) c.5155C>A (p.Leu1719Ile) | |
| 15 | g.28141459G>A | CA7440422 | HERC2 | c.11988C>T (p.Thr3996=) c.3699C>T (p.Thr1233=) c.11874C>T (p.Thr3958=) c.11973C>T (p.Thr3991=) c.11730C>T (p.Thr3910=) c.11505C>T (p.Thr3835=) c.9504C>T (p.Thr3168=) c.8733C>T (p.Thr2911=) c.6105C>T (p.Thr2035=) c.5154C>T (p.Thr1718=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.28141459G>C | CA489234659 | HERC2 | c.11988C>G (p.Thr3996=) c.3699C>G (p.Thr1233=) c.11874C>G (p.Thr3958=) c.11973C>G (p.Thr3991=) c.11730C>G (p.Thr3910=) c.11505C>G (p.Thr3835=) c.9504C>G (p.Thr3168=) c.8733C>G (p.Thr2911=) c.6105C>G (p.Thr2035=) c.5154C>G (p.Thr1718=) | |
| 15 | g.28141459G= | CA2166479834 | HERC2 | c.11988C= (p.Thr3996=) c.3699C= (p.Thr1233=) c.11874C= (p.Thr3958=) c.11973C= (p.Thr3991=) c.11730C= (p.Thr3910=) c.11505C= (p.Thr3835=) c.9504C= (p.Thr3168=) c.8733C= (p.Thr2911=) c.6105C= (p.Thr2035=) c.5154C= (p.Thr1718=) | |
| 15 | g.28141459G>T | CA489234660 | HERC2 | c.11988C>A (p.Thr3996=) c.3699C>A (p.Thr1233=) c.11874C>A (p.Thr3958=) c.11973C>A (p.Thr3991=) c.11730C>A (p.Thr3910=) c.11505C>A (p.Thr3835=) c.9504C>A (p.Thr3168=) c.8733C>A (p.Thr2911=) c.6105C>A (p.Thr2035=) c.5154C>A (p.Thr1718=) | |
| 15 | g.28141460G>A | CA391380959 | HERC2 | c.11987C>T (p.Thr3996Ile) c.3698C>T (p.Thr1233Ile) c.11873C>T (p.Thr3958Ile) c.11972C>T (p.Thr3991Ile) c.11729C>T (p.Thr3910Ile) c.11504C>T (p.Thr3835Ile) c.9503C>T (p.Thr3168Ile) c.8732C>T (p.Thr2911Ile) c.6104C>T (p.Thr2035Ile) c.5153C>T (p.Thr1718Ile) | |
| 15 | g.28141460G>C | CA391380955 | HERC2 | c.11987C>G (p.Thr3996Ser) c.3698C>G (p.Thr1233Ser) c.11873C>G (p.Thr3958Ser) c.11972C>G (p.Thr3991Ser) c.11729C>G (p.Thr3910Ser) c.11504C>G (p.Thr3835Ser) c.9503C>G (p.Thr3168Ser) c.8732C>G (p.Thr2911Ser) c.6104C>G (p.Thr2035Ser) c.5153C>G (p.Thr1718Ser) | |
| 15 | g.28141460G>T | CA391380957 | HERC2 | c.11987C>A (p.Thr3996Asn) c.3698C>A (p.Thr1233Asn) c.11873C>A (p.Thr3958Asn) c.11972C>A (p.Thr3991Asn) c.11729C>A (p.Thr3910Asn) c.11504C>A (p.Thr3835Asn) c.9503C>A (p.Thr3168Asn) c.8732C>A (p.Thr2911Asn) c.6104C>A (p.Thr2035Asn) c.5153C>A (p.Thr1718Asn) | |
| 15 | g.28141461T>A | CA391380962 | HERC2 | c.11986A>T (p.Thr3996Ser) c.3697A>T (p.Thr1233Ser) c.11872A>T (p.Thr3958Ser) c.11971A>T (p.Thr3991Ser) c.11728A>T (p.Thr3910Ser) c.11503A>T (p.Thr3835Ser) c.9502A>T (p.Thr3168Ser) c.8731A>T (p.Thr2911Ser) c.6103A>T (p.Thr2035Ser) c.5152A>T (p.Thr1718Ser) | |
| 15 | g.28141461T>C | CA391380964 | HERC2 | c.11986A>G (p.Thr3996Ala) c.3697A>G (p.Thr1233Ala) c.11872A>G (p.Thr3958Ala) c.11971A>G (p.Thr3991Ala) c.11728A>G (p.Thr3910Ala) c.11503A>G (p.Thr3835Ala) c.9502A>G (p.Thr3168Ala) c.8731A>G (p.Thr2911Ala) c.6103A>G (p.Thr2035Ala) c.5152A>G (p.Thr1718Ala) | |
| 15 | g.28141461T>G | CA391380965 | HERC2 | c.11986A>C (p.Thr3996Pro) c.3697A>C (p.Thr1233Pro) c.11872A>C (p.Thr3958Pro) c.11971A>C (p.Thr3991Pro) c.11728A>C (p.Thr3910Pro) c.11503A>C (p.Thr3835Pro) c.9502A>C (p.Thr3168Pro) c.8731A>C (p.Thr2911Pro) c.6103A>C (p.Thr2035Pro) c.5152A>C (p.Thr1718Pro) | |
| 15 | g.28141462C>A | CA391380967 | HERC2 | c.11985G>T (p.Gln3995His) c.3696G>T (p.Gln1232His) c.11871G>T (p.Gln3957His) c.11970G>T (p.Gln3990His) c.11727G>T (p.Gln3909His) c.11502G>T (p.Gln3834His) c.9501G>T (p.Gln3167His) c.8730G>T (p.Gln2910His) c.6102G>T (p.Gln2034His) c.5151G>T (p.Gln1717His) | |
| 15 | g.28141462C>G | CA391380968 | HERC2 | c.11985G>C (p.Gln3995His) c.3696G>C (p.Gln1232His) c.11871G>C (p.Gln3957His) c.11970G>C (p.Gln3990His) c.11727G>C (p.Gln3909His) c.11502G>C (p.Gln3834His) c.9501G>C (p.Gln3167His) c.8730G>C (p.Gln2910His) c.6102G>C (p.Gln2034His) c.5151G>C (p.Gln1717His) | |
| 15 | g.28141462C>T | CA489234662 | HERC2 | c.11985G>A (p.Gln3995=) c.3696G>A (p.Gln1232=) c.11871G>A (p.Gln3957=) c.11970G>A (p.Gln3990=) c.11727G>A (p.Gln3909=) c.11502G>A (p.Gln3834=) c.9501G>A (p.Gln3167=) c.8730G>A (p.Gln2910=) c.6102G>A (p.Gln2034=) c.5151G>A (p.Gln1717=) | |
| 15 | g.28141463T>A | CA391380972 | HERC2 | c.11984A>T (p.Gln3995Leu) c.3695A>T (p.Gln1232Leu) c.11870A>T (p.Gln3957Leu) c.11969A>T (p.Gln3990Leu) c.11726A>T (p.Gln3909Leu) c.11501A>T (p.Gln3834Leu) c.9500A>T (p.Gln3167Leu) c.8729A>T (p.Gln2910Leu) c.6101A>T (p.Gln2034Leu) c.5150A>T (p.Gln1717Leu) | |
| 15 | g.28141463T>C | CA391380974 | HERC2 | c.11984A>G (p.Gln3995Arg) c.3695A>G (p.Gln1232Arg) c.11870A>G (p.Gln3957Arg) c.11969A>G (p.Gln3990Arg) c.11726A>G (p.Gln3909Arg) c.11501A>G (p.Gln3834Arg) c.9500A>G (p.Gln3167Arg) c.8729A>G (p.Gln2910Arg) c.6101A>G (p.Gln2034Arg) c.5150A>G (p.Gln1717Arg) | |
| 15 | g.28141463T>G | CA391380976 | HERC2 | c.11984A>C (p.Gln3995Pro) c.3695A>C (p.Gln1232Pro) c.11870A>C (p.Gln3957Pro) c.11969A>C (p.Gln3990Pro) c.11726A>C (p.Gln3909Pro) c.11501A>C (p.Gln3834Pro) c.9500A>C (p.Gln3167Pro) c.8729A>C (p.Gln2910Pro) c.6101A>C (p.Gln2034Pro) c.5150A>C (p.Gln1717Pro) | |
| 15 | g.28141464G>A | CA391380984 | HERC2 | c.11983C>T (p.Gln3995Ter) c.3694C>T (p.Gln1232Ter) c.11869C>T (p.Gln3957Ter) c.11968C>T (p.Gln3990Ter) c.11725C>T (p.Gln3909Ter) c.11500C>T (p.Gln3834Ter) c.9499C>T (p.Gln3167Ter) c.8728C>T (p.Gln2910Ter) c.6100C>T (p.Gln2034Ter) c.5149C>T (p.Gln1717Ter) | |
| 15 | g.28141464G>C | CA391380983 | HERC2 | c.11983C>G (p.Gln3995Glu) c.3694C>G (p.Gln1232Glu) c.11869C>G (p.Gln3957Glu) c.11968C>G (p.Gln3990Glu) c.11725C>G (p.Gln3909Glu) c.11500C>G (p.Gln3834Glu) c.9499C>G (p.Gln3167Glu) c.8728C>G (p.Gln2910Glu) c.6100C>G (p.Gln2034Glu) c.5149C>G (p.Gln1717Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.28141464G= | CA2166479835 | HERC2 | c.11983C= (p.Gln3995=) c.3694C= (p.Gln1232=) c.11869C= (p.Gln3957=) c.11968C= (p.Gln3990=) c.11725C= (p.Gln3909=) c.11500C= (p.Gln3834=) c.9499C= (p.Gln3167=) c.8728C= (p.Gln2910=) c.6100C= (p.Gln2034=) c.5149C= (p.Gln1717=) | |
| 15 | g.28141464G>T | CA391380980 | HERC2 | c.11983C>A (p.Gln3995Lys) c.3694C>A (p.Gln1232Lys) c.11869C>A (p.Gln3957Lys) c.11968C>A (p.Gln3990Lys) c.11725C>A (p.Gln3909Lys) c.11500C>A (p.Gln3834Lys) c.9499C>A (p.Gln3167Lys) c.8728C>A (p.Gln2910Lys) c.6100C>A (p.Gln2034Lys) c.5149C>A (p.Gln1717Lys) | gnomAD v4 |
| 15 | g.28141465T>A | CA391380986 | HERC2 | c.11982A>T (p.Glu3994Asp) c.3693A>T (p.Glu1231Asp) c.11868A>T (p.Glu3956Asp) c.11967A>T (p.Glu3989Asp) c.11724A>T (p.Glu3908Asp) c.11499A>T (p.Glu3833Asp) c.9498A>T (p.Glu3166Asp) c.8727A>T (p.Glu2909Asp) c.6099A>T (p.Glu2033Asp) c.5148A>T (p.Glu1716Asp) | |
| 15 | g.28141465T>C | CA489234665 | HERC2 | c.11982A>G (p.Glu3994=) c.3693A>G (p.Glu1231=) c.11868A>G (p.Glu3956=) c.11967A>G (p.Glu3989=) c.11724A>G (p.Glu3908=) c.11499A>G (p.Glu3833=) c.9498A>G (p.Glu3166=) c.8727A>G (p.Glu2909=) c.6099A>G (p.Glu2033=) c.5148A>G (p.Glu1716=) | gnomAD v4 |
| 15 | g.28141465T>G | CA391380987 | HERC2 | c.11982A>C (p.Glu3994Asp) c.3693A>C (p.Glu1231Asp) c.11868A>C (p.Glu3956Asp) c.11967A>C (p.Glu3989Asp) c.11724A>C (p.Glu3908Asp) c.11499A>C (p.Glu3833Asp) c.9498A>C (p.Glu3166Asp) c.8727A>C (p.Glu2909Asp) c.6099A>C (p.Glu2033Asp) c.5148A>C (p.Glu1716Asp) | |
| 15 | g.28141466T>A | CA391380991 | HERC2 | c.11981A>T (p.Glu3994Val) c.3692A>T (p.Glu1231Val) c.11867A>T (p.Glu3956Val) c.11966A>T (p.Glu3989Val) c.11723A>T (p.Glu3908Val) c.11498A>T (p.Glu3833Val) c.9497A>T (p.Glu3166Val) c.8726A>T (p.Glu2909Val) c.6098A>T (p.Glu2033Val) c.5147A>T (p.Glu1716Val) | |
| 15 | g.28141466T>C | CA391380993 | HERC2 | c.11981A>G (p.Glu3994Gly) c.3692A>G (p.Glu1231Gly) c.11867A>G (p.Glu3956Gly) c.11966A>G (p.Glu3989Gly) c.11723A>G (p.Glu3908Gly) c.11498A>G (p.Glu3833Gly) c.9497A>G (p.Glu3166Gly) c.8726A>G (p.Glu2909Gly) c.6098A>G (p.Glu2033Gly) c.5147A>G (p.Glu1716Gly) | |
| 15 | g.28141466T>G | CA391380995 | HERC2 | c.11981A>C (p.Glu3994Ala) c.3692A>C (p.Glu1231Ala) c.11867A>C (p.Glu3956Ala) c.11966A>C (p.Glu3989Ala) c.11723A>C (p.Glu3908Ala) c.11498A>C (p.Glu3833Ala) c.9497A>C (p.Glu3166Ala) c.8726A>C (p.Glu2909Ala) c.6098A>C (p.Glu2033Ala) c.5147A>C (p.Glu1716Ala) | ClinVar dbSNP |
| 15 | g.28141467C>A | CA391381001 | HERC2 | c.11980G>T (p.Glu3994Ter) c.3691G>T (p.Glu1231Ter) c.11866G>T (p.Glu3956Ter) c.11965G>T (p.Glu3989Ter) c.11722G>T (p.Glu3908Ter) c.11497G>T (p.Glu3833Ter) c.9496G>T (p.Glu3166Ter) c.8725G>T (p.Glu2909Ter) c.6097G>T (p.Glu2033Ter) c.5146G>T (p.Glu1716Ter) | |
| 15 | g.28141467C= | CA2166479837 | HERC2 | c.11980G= (p.Glu3994=) c.3691G= (p.Glu1231=) c.11866G= (p.Glu3956=) c.11965G= (p.Glu3989=) c.11722G= (p.Glu3908=) c.11497G= (p.Glu3833=) c.9496G= (p.Glu3166=) c.8725G= (p.Glu2909=) c.6097G= (p.Glu2033=) c.5146G= (p.Glu1716=) | |
| 15 | g.28141467C>G | CA391381004 | HERC2 | c.11980G>C (p.Glu3994Gln) c.3691G>C (p.Glu1231Gln) c.11866G>C (p.Glu3956Gln) c.11965G>C (p.Glu3989Gln) c.11722G>C (p.Glu3908Gln) c.11497G>C (p.Glu3833Gln) c.9496G>C (p.Glu3166Gln) c.8725G>C (p.Glu2909Gln) c.6097G>C (p.Glu2033Gln) c.5146G>C (p.Glu1716Gln) | |
| 15 | g.28141467C>T | CA267946052 | HERC2 | c.11980G>A (p.Glu3994Lys) c.3691G>A (p.Glu1231Lys) c.11866G>A (p.Glu3956Lys) c.11965G>A (p.Glu3989Lys) c.11722G>A (p.Glu3908Lys) c.11497G>A (p.Glu3833Lys) c.9496G>A (p.Glu3166Lys) c.8725G>A (p.Glu2909Lys) c.6097G>A (p.Glu2033Lys) c.5146G>A (p.Glu1716Lys) | dbSNP |
| 15 | g.28141468C>A | CA489234667 | HERC2 | c.11979G>T (p.Gly3993=) c.3690G>T (p.Gly1230=) c.11865G>T (p.Gly3955=) c.11964G>T (p.Gly3988=) c.11721G>T (p.Gly3907=) c.11496G>T (p.Gly3832=) c.9495G>T (p.Gly3165=) c.8724G>T (p.Gly2908=) c.6096G>T (p.Gly2032=) c.5145G>T (p.Gly1715=) | |
| 15 | g.28141468C>G | CA489234668 | HERC2 | c.11979G>C (p.Gly3993=) c.3690G>C (p.Gly1230=) c.11865G>C (p.Gly3955=) c.11964G>C (p.Gly3988=) c.11721G>C (p.Gly3907=) c.11496G>C (p.Gly3832=) c.9495G>C (p.Gly3165=) c.8724G>C (p.Gly2908=) c.6096G>C (p.Gly2032=) c.5145G>C (p.Gly1715=) | |
| 15 | g.28141468C>T | CA489234669 | HERC2 | c.11979G>A (p.Gly3993=) c.3690G>A (p.Gly1230=) c.11865G>A (p.Gly3955=) c.11964G>A (p.Gly3988=) c.11721G>A (p.Gly3907=) c.11496G>A (p.Gly3832=) c.9495G>A (p.Gly3165=) c.8724G>A (p.Gly2908=) c.6096G>A (p.Gly2032=) c.5145G>A (p.Gly1715=) | |
| 15 | g.28141469C>A | CA391381009 | HERC2 | c.11978G>T (p.Gly3993Val) c.3689G>T (p.Gly1230Val) c.11864G>T (p.Gly3955Val) c.11963G>T (p.Gly3988Val) c.11720G>T (p.Gly3907Val) c.11495G>T (p.Gly3832Val) c.9494G>T (p.Gly3165Val) c.8723G>T (p.Gly2908Val) c.6095G>T (p.Gly2032Val) c.5144G>T (p.Gly1715Val) | |
| 15 | g.28141469C= | CA2166479839 | HERC2 | c.11978G= (p.Gly3993=) c.3689G= (p.Gly1230=) c.11864G= (p.Gly3955=) c.11963G= (p.Gly3988=) c.11720G= (p.Gly3907=) c.11495G= (p.Gly3832=) c.9494G= (p.Gly3165=) c.8723G= (p.Gly2908=) c.6095G= (p.Gly2032=) c.5144G= (p.Gly1715=) | |
| 15 | g.28141469C>G | CA391381013 | HERC2 | c.11978G>C (p.Gly3993Ala) c.3689G>C (p.Gly1230Ala) c.11864G>C (p.Gly3955Ala) c.11963G>C (p.Gly3988Ala) c.11720G>C (p.Gly3907Ala) c.11495G>C (p.Gly3832Ala) c.9494G>C (p.Gly3165Ala) c.8723G>C (p.Gly2908Ala) c.6095G>C (p.Gly2032Ala) c.5144G>C (p.Gly1715Ala) | |
| 15 | g.28141469C>T | CA391381015 | HERC2 | c.11978G>A (p.Gly3993Glu) c.3689G>A (p.Gly1230Glu) c.11864G>A (p.Gly3955Glu) c.11963G>A (p.Gly3988Glu) c.11720G>A (p.Gly3907Glu) c.11495G>A (p.Gly3832Glu) c.9494G>A (p.Gly3165Glu) c.8723G>A (p.Gly2908Glu) c.6095G>A (p.Gly2032Glu) c.5144G>A (p.Gly1715Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.28141470C>A | CA391381022 | HERC2 | c.11977G>T (p.Gly3993Trp) c.3688G>T (p.Gly1230Trp) c.11863G>T (p.Gly3955Trp) c.11962G>T (p.Gly3988Trp) c.11719G>T (p.Gly3907Trp) c.11494G>T (p.Gly3832Trp) c.9493G>T (p.Gly3165Trp) c.8722G>T (p.Gly2908Trp) c.6094G>T (p.Gly2032Trp) c.5143G>T (p.Gly1715Trp) | |
| 15 | g.28141470C>G | CA391381024 | HERC2 | c.11977G>C (p.Gly3993Arg) c.3688G>C (p.Gly1230Arg) c.11863G>C (p.Gly3955Arg) c.11962G>C (p.Gly3988Arg) c.11719G>C (p.Gly3907Arg) c.11494G>C (p.Gly3832Arg) c.9493G>C (p.Gly3165Arg) c.8722G>C (p.Gly2908Arg) c.6094G>C (p.Gly2032Arg) c.5143G>C (p.Gly1715Arg) | |
| 15 | g.28141470C>T | CA391381019 | HERC2 | c.11977G>A (p.Gly3993Arg) c.3688G>A (p.Gly1230Arg) c.11863G>A (p.Gly3955Arg) c.11962G>A (p.Gly3988Arg) c.11719G>A (p.Gly3907Arg) c.11494G>A (p.Gly3832Arg) c.9493G>A (p.Gly3165Arg) c.8722G>A (p.Gly2908Arg) c.6094G>A (p.Gly2032Arg) c.5143G>A (p.Gly1715Arg) | |
| 15 | g.28141471T>A | CA489234670 | HERC2 | c.11976A>T (p.Gly3992=) c.3687A>T (p.Gly1229=) c.11862A>T (p.Gly3954=) c.11961A>T (p.Gly3987=) c.11718A>T (p.Gly3906=) c.11493A>T (p.Gly3831=) c.9492A>T (p.Gly3164=) c.8721A>T (p.Gly2907=) c.6093A>T (p.Gly2031=) c.5142A>T (p.Gly1714=) | |
| 15 | g.28141471T>C | CA489234671 | HERC2 | c.11976A>G (p.Gly3992=) c.3687A>G (p.Gly1229=) c.11862A>G (p.Gly3954=) c.11961A>G (p.Gly3987=) c.11718A>G (p.Gly3906=) c.11493A>G (p.Gly3831=) c.9492A>G (p.Gly3164=) c.8721A>G (p.Gly2907=) c.6093A>G (p.Gly2031=) c.5142A>G (p.Gly1714=) | gnomAD v4 |
| 15 | g.28141471T>G | CA489234672 | HERC2 | c.11976A>C (p.Gly3992=) c.3687A>C (p.Gly1229=) c.11862A>C (p.Gly3954=) c.11961A>C (p.Gly3987=) c.11718A>C (p.Gly3906=) c.11493A>C (p.Gly3831=) c.9492A>C (p.Gly3164=) c.8721A>C (p.Gly2907=) c.6093A>C (p.Gly2031=) c.5142A>C (p.Gly1714=) | |
| 15 | g.28141472C>A | CA391381027 | HERC2 | c.11975G>T (p.Gly3992Val) c.3686G>T (p.Gly1229Val) c.11861G>T (p.Gly3954Val) c.11960G>T (p.Gly3987Val) c.11717G>T (p.Gly3906Val) c.11492G>T (p.Gly3831Val) c.9491G>T (p.Gly3164Val) c.8720G>T (p.Gly2907Val) c.6092G>T (p.Gly2031Val) c.5141G>T (p.Gly1714Val) | |
| 15 | g.28141472C>G | CA391381029 | HERC2 | c.11975G>C (p.Gly3992Ala) c.3686G>C (p.Gly1229Ala) c.11861G>C (p.Gly3954Ala) c.11960G>C (p.Gly3987Ala) c.11717G>C (p.Gly3906Ala) c.11492G>C (p.Gly3831Ala) c.9491G>C (p.Gly3164Ala) c.8720G>C (p.Gly2907Ala) c.6092G>C (p.Gly2031Ala) c.5141G>C (p.Gly1714Ala) | |
| 15 | g.28141472C>T | CA391381032 | HERC2 | c.11975G>A (p.Gly3992Glu) c.3686G>A (p.Gly1229Glu) c.11861G>A (p.Gly3954Glu) c.11960G>A (p.Gly3987Glu) c.11717G>A (p.Gly3906Glu) c.11492G>A (p.Gly3831Glu) c.9491G>A (p.Gly3164Glu) c.8720G>A (p.Gly2907Glu) c.6092G>A (p.Gly2031Glu) c.5141G>A (p.Gly1714Glu) | |
| 15 | g.28141473C>A | CA391381035 | HERC2 | c.11974G>T (p.Gly3992Ter) c.3685G>T (p.Gly1229Ter) c.11860G>T (p.Gly3954Ter) c.11959G>T (p.Gly3987Ter) c.11716G>T (p.Gly3906Ter) c.11491G>T (p.Gly3831Ter) c.9490G>T (p.Gly3164Ter) c.8719G>T (p.Gly2907Ter) c.6091G>T (p.Gly2031Ter) c.5140G>T (p.Gly1714Ter) | |
| 15 | g.28141473C= | CA2166479841 | HERC2 | c.11974G= (p.Gly3992=) c.3685G= (p.Gly1229=) c.11860G= (p.Gly3954=) c.11959G= (p.Gly3987=) c.11716G= (p.Gly3906=) c.11491G= (p.Gly3831=) c.9490G= (p.Gly3164=) c.8719G= (p.Gly2907=) c.6091G= (p.Gly2031=) c.5140G= (p.Gly1714=) | |
| 15 | g.28141473C>G | CA391381036 | HERC2 | c.11974G>C (p.Gly3992Arg) c.3685G>C (p.Gly1229Arg) c.11860G>C (p.Gly3954Arg) c.11959G>C (p.Gly3987Arg) c.11716G>C (p.Gly3906Arg) c.11491G>C (p.Gly3831Arg) c.9490G>C (p.Gly3164Arg) c.8719G>C (p.Gly2907Arg) c.6091G>C (p.Gly2031Arg) c.5140G>C (p.Gly1714Arg) | |
| 15 | g.28141473C>T | CA391381039 | HERC2 | c.11974G>A (p.Gly3992Arg) c.3685G>A (p.Gly1229Arg) c.11860G>A (p.Gly3954Arg) c.11959G>A (p.Gly3987Arg) c.11716G>A (p.Gly3906Arg) c.11491G>A (p.Gly3831Arg) c.9490G>A (p.Gly3164Arg) c.8719G>A (p.Gly2907Arg) c.6091G>A (p.Gly2031Arg) c.5140G>A (p.Gly1714Arg) | dbSNP gnomAD v4 |
| 15 | g.28141474G>A | CA7440423 | HERC2 | c.11973C>T (p.Ile3991=) c.3684C>T (p.Ile1228=) c.11859C>T (p.Ile3953=) c.11958C>T (p.Ile3986=) c.11715C>T (p.Ile3905=) c.11490C>T (p.Ile3830=) c.9489C>T (p.Ile3163=) c.8718C>T (p.Ile2906=) c.6090C>T (p.Ile2030=) c.5139C>T (p.Ile1713=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.28141474G>C | CA391381045 | HERC2 | c.11973C>G (p.Ile3991Met) c.3684C>G (p.Ile1228Met) c.11859C>G (p.Ile3953Met) c.11958C>G (p.Ile3986Met) c.11715C>G (p.Ile3905Met) c.11490C>G (p.Ile3830Met) c.9489C>G (p.Ile3163Met) c.8718C>G (p.Ile2906Met) c.6090C>G (p.Ile2030Met) c.5139C>G (p.Ile1713Met) | |
| 15 | g.28141474G= | CA2166479843 | HERC2 | c.11973C= (p.Ile3991=) c.3684C= (p.Ile1228=) c.11859C= (p.Ile3953=) c.11958C= (p.Ile3986=) c.11715C= (p.Ile3905=) c.11490C= (p.Ile3830=) c.9489C= (p.Ile3163=) c.8718C= (p.Ile2906=) c.6090C= (p.Ile2030=) c.5139C= (p.Ile1713=) | |
| 15 | g.28141474G>T | CA489234674 | HERC2 | c.11973C>A (p.Ile3991=) c.3684C>A (p.Ile1228=) c.11859C>A (p.Ile3953=) c.11958C>A (p.Ile3986=) c.11715C>A (p.Ile3905=) c.11490C>A (p.Ile3830=) c.9489C>A (p.Ile3163=) c.8718C>A (p.Ile2906=) c.6090C>A (p.Ile2030=) c.5139C>A (p.Ile1713=) | COSMIC COSMIC |
| 15 | g.28141475A>C | CA391381047 | HERC2 | c.11972T>G (p.Ile3991Ser) c.3683T>G (p.Ile1228Ser) c.11858T>G (p.Ile3953Ser) c.11957T>G (p.Ile3986Ser) c.11714T>G (p.Ile3905Ser) c.11489T>G (p.Ile3830Ser) c.9488T>G (p.Ile3163Ser) c.8717T>G (p.Ile2906Ser) c.6089T>G (p.Ile2030Ser) c.5138T>G (p.Ile1713Ser) | |
| 15 | g.28141475A>G | CA391381052 | HERC2 | c.11972T>C (p.Ile3991Thr) c.3683T>C (p.Ile1228Thr) c.11858T>C (p.Ile3953Thr) c.11957T>C (p.Ile3986Thr) c.11714T>C (p.Ile3905Thr) c.11489T>C (p.Ile3830Thr) c.9488T>C (p.Ile3163Thr) c.8717T>C (p.Ile2906Thr) c.6089T>C (p.Ile2030Thr) c.5138T>C (p.Ile1713Thr) | |
| 15 | g.28141475A>T | CA391381053 | HERC2 | c.11972T>A (p.Ile3991Asn) c.3683T>A (p.Ile1228Asn) c.11858T>A (p.Ile3953Asn) c.11957T>A (p.Ile3986Asn) c.11714T>A (p.Ile3905Asn) c.11489T>A (p.Ile3830Asn) c.9488T>A (p.Ile3163Asn) c.8717T>A (p.Ile2906Asn) c.6089T>A (p.Ile2030Asn) c.5138T>A (p.Ile1713Asn) | |
| 15 | g.28141476T>A | CA391381059 | HERC2 | c.11971A>T (p.Ile3991Phe) c.3682A>T (p.Ile1228Phe) c.11857A>T (p.Ile3953Phe) c.11956A>T (p.Ile3986Phe) c.11713A>T (p.Ile3905Phe) c.11488A>T (p.Ile3830Phe) c.9487A>T (p.Ile3163Phe) c.8716A>T (p.Ile2906Phe) c.6088A>T (p.Ile2030Phe) c.5137A>T (p.Ile1713Phe) | |
| 15 | g.28141476T>C | CA391381057 | HERC2 | c.11971A>G (p.Ile3991Val) c.3682A>G (p.Ile1228Val) c.11857A>G (p.Ile3953Val) c.11956A>G (p.Ile3986Val) c.11713A>G (p.Ile3905Val) c.11488A>G (p.Ile3830Val) c.9487A>G (p.Ile3163Val) c.8716A>G (p.Ile2906Val) c.6088A>G (p.Ile2030Val) c.5137A>G (p.Ile1713Val) | |
| 15 | g.28141476T>G | CA391381055 | HERC2 | c.11971A>C (p.Ile3991Leu) c.3682A>C (p.Ile1228Leu) c.11857A>C (p.Ile3953Leu) c.11956A>C (p.Ile3986Leu) c.11713A>C (p.Ile3905Leu) c.11488A>C (p.Ile3830Leu) c.9487A>C (p.Ile3163Leu) c.8716A>C (p.Ile2906Leu) c.6088A>C (p.Ile2030Leu) c.5137A>C (p.Ile1713Leu) | |
| 15 | g.28141477T>A | CA391381062 | HERC2 | c.11970A>T (p.Leu3990Phe) c.3681A>T (p.Leu1227Phe) c.11856A>T (p.Leu3952Phe) c.11955A>T (p.Leu3985Phe) c.11712A>T (p.Leu3904Phe) c.11487A>T (p.Leu3829Phe) c.9486A>T (p.Leu3162Phe) c.8715A>T (p.Leu2905Phe) c.6087A>T (p.Leu2029Phe) c.5136A>T (p.Leu1712Phe) | |
| 15 | g.28141477T>C | CA489234678 | HERC2 | c.11970A>G (p.Leu3990=) c.3681A>G (p.Leu1227=) c.11856A>G (p.Leu3952=) c.11955A>G (p.Leu3985=) c.11712A>G (p.Leu3904=) c.11487A>G (p.Leu3829=) c.9486A>G (p.Leu3162=) c.8715A>G (p.Leu2905=) c.6087A>G (p.Leu2029=) c.5136A>G (p.Leu1712=) | |
| 15 | g.28141477T>G | CA391381063 | HERC2 | c.11970A>C (p.Leu3990Phe) c.3681A>C (p.Leu1227Phe) c.11856A>C (p.Leu3952Phe) c.11955A>C (p.Leu3985Phe) c.11712A>C (p.Leu3904Phe) c.11487A>C (p.Leu3829Phe) c.9486A>C (p.Leu3162Phe) c.8715A>C (p.Leu2905Phe) c.6087A>C (p.Leu2029Phe) c.5136A>C (p.Leu1712Phe) | |
| 15 | g.28141478A>C | CA391381066 | HERC2 | c.11969T>G (p.Leu3990Ter) c.3680T>G (p.Leu1227Ter) c.11855T>G (p.Leu3952Ter) c.11954T>G (p.Leu3985Ter) c.11711T>G (p.Leu3904Ter) c.11486T>G (p.Leu3829Ter) c.9485T>G (p.Leu3162Ter) c.8714T>G (p.Leu2905Ter) c.6086T>G (p.Leu2029Ter) c.5135T>G (p.Leu1712Ter) | |
| 15 | g.28141478A>G | CA391381068 | HERC2 | c.11969T>C (p.Leu3990Ser) c.3680T>C (p.Leu1227Ser) c.11855T>C (p.Leu3952Ser) c.11954T>C (p.Leu3985Ser) c.11711T>C (p.Leu3904Ser) c.11486T>C (p.Leu3829Ser) c.9485T>C (p.Leu3162Ser) c.8714T>C (p.Leu2905Ser) c.6086T>C (p.Leu2029Ser) c.5135T>C (p.Leu1712Ser) | |
| 15 | g.28141478A>T | CA391381070 | HERC2 | c.11969T>A (p.Leu3990Ter) c.3680T>A (p.Leu1227Ter) c.11855T>A (p.Leu3952Ter) c.11954T>A (p.Leu3985Ter) c.11711T>A (p.Leu3904Ter) c.11486T>A (p.Leu3829Ter) c.9485T>A (p.Leu3162Ter) c.8714T>A (p.Leu2905Ter) c.6086T>A (p.Leu2029Ter) c.5135T>A (p.Leu1712Ter) | |
| 15 | g.28141479A>C | CA391381073 | HERC2 | c.11968T>G (p.Leu3990Val) c.3679T>G (p.Leu1227Val) c.11854T>G (p.Leu3952Val) c.11953T>G (p.Leu3985Val) c.11710T>G (p.Leu3904Val) c.11485T>G (p.Leu3829Val) c.9484T>G (p.Leu3162Val) c.8713T>G (p.Leu2905Val) c.6085T>G (p.Leu2029Val) c.5134T>G (p.Leu1712Val) | |
| 15 | g.28141479A>G | CA489234680 | HERC2 | c.11968T>C (p.Leu3990=) c.3679T>C (p.Leu1227=) c.11854T>C (p.Leu3952=) c.11953T>C (p.Leu3985=) c.11710T>C (p.Leu3904=) c.11485T>C (p.Leu3829=) c.9484T>C (p.Leu3162=) c.8713T>C (p.Leu2905=) c.6085T>C (p.Leu2029=) c.5134T>C (p.Leu1712=) | |
| 15 | g.28141479A>T | CA391381076 | HERC2 | c.11968T>A (p.Leu3990Ile) c.3679T>A (p.Leu1227Ile) c.11854T>A (p.Leu3952Ile) c.11953T>A (p.Leu3985Ile) c.11710T>A (p.Leu3904Ile) c.11485T>A (p.Leu3829Ile) c.9484T>A (p.Leu3162Ile) c.8713T>A (p.Leu2905Ile) c.6085T>A (p.Leu2029Ile) c.5134T>A (p.Leu1712Ile) | |
| 15 | g.28141480C>A | CA391381079 | HERC2 | c.11967G>T (p.Gln3989His) c.3678G>T (p.Gln1226His) c.11853G>T (p.Gln3951His) c.11952G>T (p.Gln3984His) c.11709G>T (p.Gln3903His) c.11484G>T (p.Gln3828His) c.9483G>T (p.Gln3161His) c.8712G>T (p.Gln2904His) c.6084G>T (p.Gln2028His) c.5133G>T (p.Gln1711His) | |
| 15 | g.28141480C= | CA2166479845 | HERC2 | c.11967G= (p.Gln3989=) c.3678G= (p.Gln1226=) c.11853G= (p.Gln3951=) c.11952G= (p.Gln3984=) c.11709G= (p.Gln3903=) c.11484G= (p.Gln3828=) c.9483G= (p.Gln3161=) c.8712G= (p.Gln2904=) c.6084G= (p.Gln2028=) c.5133G= (p.Gln1711=) | |
| 15 | g.28141480C>G | CA391381081 | HERC2 | c.11967G>C (p.Gln3989His) c.3678G>C (p.Gln1226His) c.11853G>C (p.Gln3951His) c.11952G>C (p.Gln3984His) c.11709G>C (p.Gln3903His) c.11484G>C (p.Gln3828His) c.9483G>C (p.Gln3161His) c.8712G>C (p.Gln2904His) c.6084G>C (p.Gln2028His) c.5133G>C (p.Gln1711His) | |
| 15 | g.28141480C>T | CA7440424 | HERC2 | c.11967G>A (p.Gln3989=) c.3678G>A (p.Gln1226=) c.11853G>A (p.Gln3951=) c.11952G>A (p.Gln3984=) c.11709G>A (p.Gln3903=) c.11484G>A (p.Gln3828=) c.9483G>A (p.Gln3161=) c.8712G>A (p.Gln2904=) c.6084G>A (p.Gln2028=) c.5133G>A (p.Gln1711=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.28141481T>A | CA391381087 | HERC2 | c.11966A>T (p.Gln3989Leu) c.3677A>T (p.Gln1226Leu) c.11852A>T (p.Gln3951Leu) c.11951A>T (p.Gln3984Leu) c.11708A>T (p.Gln3903Leu) c.11483A>T (p.Gln3828Leu) c.9482A>T (p.Gln3161Leu) c.8711A>T (p.Gln2904Leu) c.6083A>T (p.Gln2028Leu) c.5132A>T (p.Gln1711Leu) | |
| 15 | g.28141481T>C | CA391381089 | HERC2 | c.11966A>G (p.Gln3989Arg) c.3677A>G (p.Gln1226Arg) c.11852A>G (p.Gln3951Arg) c.11951A>G (p.Gln3984Arg) c.11708A>G (p.Gln3903Arg) c.11483A>G (p.Gln3828Arg) c.9482A>G (p.Gln3161Arg) c.8711A>G (p.Gln2904Arg) c.6083A>G (p.Gln2028Arg) c.5132A>G (p.Gln1711Arg) | gnomAD v4 |
| 15 | g.28141481T>G | CA391381090 | HERC2 | c.11966A>C (p.Gln3989Pro) c.3677A>C (p.Gln1226Pro) c.11852A>C (p.Gln3951Pro) c.11951A>C (p.Gln3984Pro) c.11708A>C (p.Gln3903Pro) c.11483A>C (p.Gln3828Pro) c.9482A>C (p.Gln3161Pro) c.8711A>C (p.Gln2904Pro) c.6083A>C (p.Gln2028Pro) c.5132A>C (p.Gln1711Pro) | |
| 15 | g.28141482G>A | CA391381094 | HERC2 | c.11965C>T (p.Gln3989Ter) c.3676C>T (p.Gln1226Ter) c.11851C>T (p.Gln3951Ter) c.11950C>T (p.Gln3984Ter) c.11707C>T (p.Gln3903Ter) c.11482C>T (p.Gln3828Ter) c.9481C>T (p.Gln3161Ter) c.8710C>T (p.Gln2904Ter) c.6082C>T (p.Gln2028Ter) c.5131C>T (p.Gln1711Ter) | |
| 15 | g.28141482G>C | CA391381100 | HERC2 | c.11965C>G (p.Gln3989Glu) c.3676C>G (p.Gln1226Glu) c.11851C>G (p.Gln3951Glu) c.11950C>G (p.Gln3984Glu) c.11707C>G (p.Gln3903Glu) c.11482C>G (p.Gln3828Glu) c.9481C>G (p.Gln3161Glu) c.8710C>G (p.Gln2904Glu) c.6082C>G (p.Gln2028Glu) c.5131C>G (p.Gln1711Glu) | |
| 15 | g.28141482G>T | CA391381093 | HERC2 | c.11965C>A (p.Gln3989Lys) c.3676C>A (p.Gln1226Lys) c.11851C>A (p.Gln3951Lys) c.11950C>A (p.Gln3984Lys) c.11707C>A (p.Gln3903Lys) c.11482C>A (p.Gln3828Lys) c.9481C>A (p.Gln3161Lys) c.8710C>A (p.Gln2904Lys) c.6082C>A (p.Gln2028Lys) c.5131C>A (p.Gln1711Lys) | |
| 15 | g.28141483C>A | CA489234684 | HERC2 | c.11964G>T (p.Val3988=) c.3675G>T (p.Val1225=) c.11850G>T (p.Val3950=) c.11949G>T (p.Val3983=) c.11706G>T (p.Val3902=) c.11481G>T (p.Val3827=) c.9480G>T (p.Val3160=) c.8709G>T (p.Val2903=) c.6081G>T (p.Val2027=) c.5130G>T (p.Val1710=) | |
| 15 | g.28141483C>G | CA489234685 | HERC2 | c.11964G>C (p.Val3988=) c.3675G>C (p.Val1225=) c.11850G>C (p.Val3950=) c.11949G>C (p.Val3983=) c.11706G>C (p.Val3902=) c.11481G>C (p.Val3827=) c.9480G>C (p.Val3160=) c.8709G>C (p.Val2903=) c.6081G>C (p.Val2027=) c.5130G>C (p.Val1710=) | |
| 15 | g.28141483C>T | CA489234683 | HERC2 | c.11964G>A (p.Val3988=) c.3675G>A (p.Val1225=) c.11850G>A (p.Val3950=) c.11949G>A (p.Val3983=) c.11706G>A (p.Val3902=) c.11481G>A (p.Val3827=) c.9480G>A (p.Val3160=) c.8709G>A (p.Val2903=) c.6081G>A (p.Val2027=) c.5130G>A (p.Val1710=) | |
| 15 | g.28141484A= | CA2166479846 | HERC2 | c.11963T= (p.Val3988=) c.3674T= (p.Val1225=) c.11849T= (p.Val3950=) c.11948T= (p.Val3983=) c.11705T= (p.Val3902=) c.11480T= (p.Val3827=) c.9479T= (p.Val3160=) c.8708T= (p.Val2903=) c.6080T= (p.Val2027=) c.5129T= (p.Val1710=) | |
| 15 | g.28141484A>C | CA391381109 | HERC2 | c.11963T>G (p.Val3988Gly) c.3674T>G (p.Val1225Gly) c.11849T>G (p.Val3950Gly) c.11948T>G (p.Val3983Gly) c.11705T>G (p.Val3902Gly) c.11480T>G (p.Val3827Gly) c.9479T>G (p.Val3160Gly) c.8708T>G (p.Val2903Gly) c.6080T>G (p.Val2027Gly) c.5129T>G (p.Val1710Gly) | |
| 15 | g.28141484A>G | CA7440425 | HERC2 | c.11963T>C (p.Val3988Ala) c.3674T>C (p.Val1225Ala) c.11849T>C (p.Val3950Ala) c.11948T>C (p.Val3983Ala) c.11705T>C (p.Val3902Ala) c.11480T>C (p.Val3827Ala) c.9479T>C (p.Val3160Ala) c.8708T>C (p.Val2903Ala) c.6080T>C (p.Val2027Ala) c.5129T>C (p.Val1710Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.28141484A>T | CA391381106 | HERC2 | c.11963T>A (p.Val3988Glu) c.3674T>A (p.Val1225Glu) c.11849T>A (p.Val3950Glu) c.11948T>A (p.Val3983Glu) c.11705T>A (p.Val3902Glu) c.11480T>A (p.Val3827Glu) c.9479T>A (p.Val3160Glu) c.8708T>A (p.Val2903Glu) c.6080T>A (p.Val2027Glu) c.5129T>A (p.Val1710Glu) | |
| 15 | g.28141485C>A | CA391381112 | HERC2 | c.11962G>T (p.Val3988Leu) c.3673G>T (p.Val1225Leu) c.11848G>T (p.Val3950Leu) c.11947G>T (p.Val3983Leu) c.11704G>T (p.Val3902Leu) c.11479G>T (p.Val3827Leu) c.9478G>T (p.Val3160Leu) c.8707G>T (p.Val2903Leu) c.6079G>T (p.Val2027Leu) c.5128G>T (p.Val1710Leu) | |
| 15 | g.28141485C= | CA2166479849 | HERC2 | c.11962G= (p.Val3988=) c.3673G= (p.Val1225=) c.11848G= (p.Val3950=) c.11947G= (p.Val3983=) c.11704G= (p.Val3902=) c.11479G= (p.Val3827=) c.9478G= (p.Val3160=) c.8707G= (p.Val2903=) c.6079G= (p.Val2027=) c.5128G= (p.Val1710=) | |
| 15 | g.28141485C>G | CA391381114 | HERC2 | c.11962G>C (p.Val3988Leu) c.3673G>C (p.Val1225Leu) c.11848G>C (p.Val3950Leu) c.11947G>C (p.Val3983Leu) c.11704G>C (p.Val3902Leu) c.11479G>C (p.Val3827Leu) c.9478G>C (p.Val3160Leu) c.8707G>C (p.Val2903Leu) c.6079G>C (p.Val2027Leu) c.5128G>C (p.Val1710Leu) | gnomAD v4 |
| 15 | g.28141485C>T | CA7440426 | HERC2 | c.11962G>A (p.Val3988Met) c.3673G>A (p.Val1225Met) c.11848G>A (p.Val3950Met) c.11947G>A (p.Val3983Met) c.11704G>A (p.Val3902Met) c.11479G>A (p.Val3827Met) c.9478G>A (p.Val3160Met) c.8707G>A (p.Val2903Met) c.6079G>A (p.Val2027Met) c.5128G>A (p.Val1710Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.28141486G>A | CA7440427 | HERC2 | c.11961C>T (p.Pro3987=) c.3672C>T (p.Pro1224=) c.11847C>T (p.Pro3949=) c.11946C>T (p.Pro3982=) c.11703C>T (p.Pro3901=) c.11478C>T (p.Pro3826=) c.9477C>T (p.Pro3159=) c.8706C>T (p.Pro2902=) c.6078C>T (p.Pro2026=) c.5127C>T (p.Pro1709=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.28141486G>C | CA489234689 | HERC2 | c.11961C>G (p.Pro3987=) c.3672C>G (p.Pro1224=) c.11847C>G (p.Pro3949=) c.11946C>G (p.Pro3982=) c.11703C>G (p.Pro3901=) c.11478C>G (p.Pro3826=) c.9477C>G (p.Pro3159=) c.8706C>G (p.Pro2902=) c.6078C>G (p.Pro2026=) c.5127C>G (p.Pro1709=) | |
| 15 | g.28141486G= | CA2166479850 | HERC2 | c.11961C= (p.Pro3987=) c.3672C= (p.Pro1224=) c.11847C= (p.Pro3949=) c.11946C= (p.Pro3982=) c.11703C= (p.Pro3901=) c.11478C= (p.Pro3826=) c.9477C= (p.Pro3159=) c.8706C= (p.Pro2902=) c.6078C= (p.Pro2026=) c.5127C= (p.Pro1709=) | |
| 15 | g.28141486G>T | CA489234690 | HERC2 | c.11961C>A (p.Pro3987=) c.3672C>A (p.Pro1224=) c.11847C>A (p.Pro3949=) c.11946C>A (p.Pro3982=) c.11703C>A (p.Pro3901=) c.11478C>A (p.Pro3826=) c.9477C>A (p.Pro3159=) c.8706C>A (p.Pro2902=) c.6078C>A (p.Pro2026=) c.5127C>A (p.Pro1709=) | |
| 15 | g.28141487G>A | CA391381120 | HERC2 | c.11960C>T (p.Pro3987Leu) c.3671C>T (p.Pro1224Leu) c.11846C>T (p.Pro3949Leu) c.11945C>T (p.Pro3982Leu) c.11702C>T (p.Pro3901Leu) c.11477C>T (p.Pro3826Leu) c.9476C>T (p.Pro3159Leu) c.8705C>T (p.Pro2902Leu) c.6077C>T (p.Pro2026Leu) c.5126C>T (p.Pro1709Leu) | |
| 15 | g.28141487G>C | CA391381122 | HERC2 | c.11960C>G (p.Pro3987Arg) c.3671C>G (p.Pro1224Arg) c.11846C>G (p.Pro3949Arg) c.11945C>G (p.Pro3982Arg) c.11702C>G (p.Pro3901Arg) c.11477C>G (p.Pro3826Arg) c.9476C>G (p.Pro3159Arg) c.8705C>G (p.Pro2902Arg) c.6077C>G (p.Pro2026Arg) c.5126C>G (p.Pro1709Arg) | |
| 15 | g.28141487G>T | CA391381125 | HERC2 | c.11960C>A (p.Pro3987His) c.3671C>A (p.Pro1224His) c.11846C>A (p.Pro3949His) c.11945C>A (p.Pro3982His) c.11702C>A (p.Pro3901His) c.11477C>A (p.Pro3826His) c.9476C>A (p.Pro3159His) c.8705C>A (p.Pro2902His) c.6077C>A (p.Pro2026His) c.5126C>A (p.Pro1709His) | |
| 15 | g.28141488G>A | CA391381126 | HERC2 | c.11959C>T (p.Pro3987Ser) c.3670C>T (p.Pro1224Ser) c.11845C>T (p.Pro3949Ser) c.11944C>T (p.Pro3982Ser) c.11701C>T (p.Pro3901Ser) c.11476C>T (p.Pro3826Ser) c.9475C>T (p.Pro3159Ser) c.8704C>T (p.Pro2902Ser) c.6076C>T (p.Pro2026Ser) c.5125C>T (p.Pro1709Ser) | |
| 15 | g.28141488G>C | CA391381129 | HERC2 | c.11959C>G (p.Pro3987Ala) c.3670C>G (p.Pro1224Ala) c.11845C>G (p.Pro3949Ala) c.11944C>G (p.Pro3982Ala) c.11701C>G (p.Pro3901Ala) c.11476C>G (p.Pro3826Ala) c.9475C>G (p.Pro3159Ala) c.8704C>G (p.Pro2902Ala) c.6076C>G (p.Pro2026Ala) c.5125C>G (p.Pro1709Ala) | |
| 15 | g.28141488G= | CA2166479852 | HERC2 | c.11959C= (p.Pro3987=) c.3670C= (p.Pro1224=) c.11845C= (p.Pro3949=) c.11944C= (p.Pro3982=) c.11701C= (p.Pro3901=) c.11476C= (p.Pro3826=) c.9475C= (p.Pro3159=) c.8704C= (p.Pro2902=) c.6076C= (p.Pro2026=) c.5125C= (p.Pro1709=) | |
| 15 | g.28141488G>T | CA391381132 | HERC2 | c.11959C>A (p.Pro3987Thr) c.3670C>A (p.Pro1224Thr) c.11845C>A (p.Pro3949Thr) c.11944C>A (p.Pro3982Thr) c.11701C>A (p.Pro3901Thr) c.11476C>A (p.Pro3826Thr) c.9475C>A (p.Pro3159Thr) c.8704C>A (p.Pro2902Thr) c.6076C>A (p.Pro2026Thr) c.5125C>A (p.Pro1709Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.28141489T>A | CA391381137 | HERC2 | c.11958A>T (p.Arg3986Ser) c.3669A>T (p.Arg1223Ser) c.11844A>T (p.Arg3948Ser) c.11943A>T (p.Arg3981Ser) c.11700A>T (p.Arg3900Ser) c.11475A>T (p.Arg3825Ser) c.9474A>T (p.Arg3158Ser) c.8703A>T (p.Arg2901Ser) c.6075A>T (p.Arg2025Ser) c.5124A>T (p.Arg1708Ser) | |
| 15 | g.28141489T>C | CA489234691 | HERC2 | c.11958A>G (p.Arg3986=) c.3669A>G (p.Arg1223=) c.11844A>G (p.Arg3948=) c.11943A>G (p.Arg3981=) c.11700A>G (p.Arg3900=) c.11475A>G (p.Arg3825=) c.9474A>G (p.Arg3158=) c.8703A>G (p.Arg2901=) c.6075A>G (p.Arg2025=) c.5124A>G (p.Arg1708=) | gnomAD v4 |
| 15 | g.28141489T>G | CA391381134 | HERC2 | c.11958A>C (p.Arg3986Ser) c.3669A>C (p.Arg1223Ser) c.11844A>C (p.Arg3948Ser) c.11943A>C (p.Arg3981Ser) c.11700A>C (p.Arg3900Ser) c.11475A>C (p.Arg3825Ser) c.9474A>C (p.Arg3158Ser) c.8703A>C (p.Arg2901Ser) c.6075A>C (p.Arg2025Ser) c.5124A>C (p.Arg1708Ser) |