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 |
|---|---|---|---|---|---|
| 5 | g.156594898_156594904dup | CA563937604 | SGCD | c.383-34_383-28dup (n.383-34_383-28dup) c.380-34_380-28dup (n.380-34_380-28dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156594891_156594904dup | CA658822733 | SGCD | c.383-41_383-28dup (n.383-41_383-28dup) c.380-41_380-28dup (n.380-41_380-28dup) | ClinVar dbSNP |
| 5 | g.156594898_156594904del | CA3530580 | SGCD | c.383-34_383-28del (n.383-34_383-28del) c.380-34_380-28del (n.380-34_380-28del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156594892_156594913del | CA913108490 | SGCD | c.383-40_383-19del (n.383-40_383-19del) c.380-40_380-19del (n.380-40_380-19del) | |
| 5 | g.156594892_156594913delinsCTCTCTCCTCTCTATCTCTCTA | CA1593779075 | SGCD | c.383-40_383-19delinsCTCTCTCCTCTCTATCTCTCTA (n.383-40_383-19delinsCTCTCTCCTCTCTATCTCTCTA) c.380-40_380-19delinsCTCTCTCCTCTCTATCTCTCTA (n.380-40_380-19delinsCTCTCTCCTCTCTATCTCTCTA) | |
| 5 | g.156594899_156594919del | CA658822734 | SGCD | c.383-33_383-13del (n.383-33_383-13del) c.380-33_380-13del (n.380-33_380-13del) | ClinVar dbSNP |
| 5 | g.156594898_156594902delinsCCTCT | CA1593779082 | SGCD | c.383-34_383-30delinsCCTCT (n.383-34_383-30delinsCCTCT) c.380-34_380-30delinsCCTCT (n.380-34_380-30delinsCCTCT) | |
| 5 | g.156594898_156594906delinsCCTCTCTAT | CA1593779081 | SGCD | c.383-34_383-26delinsCCTCTCTAT (n.383-34_383-26delinsCCTCTCTAT) c.380-34_380-26delinsCCTCTCTAT (n.380-34_380-26delinsCCTCTCTAT) | |
| 5 | g.156594901_156594904del | CA3530585 | SGCD | c.383-31_383-28del (n.383-31_383-28del) c.380-31_380-28del (n.380-31_380-28del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156594899_156594905del | CA2676178477 | SGCD | c.383-33_383-27del (n.383-33_383-27del) c.380-33_380-27del (n.380-33_380-27del) | gnomAD v4 |
| 5 | g.156594915_156594922dup | CA3530586 | SGCD | c.383-17_383-10dup (n.383-17_383-10dup) c.380-17_380-10dup (n.380-17_380-10dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156594915_156594922del | CA184798 | SGCD | c.383-17_383-10del (n.383-17_383-10del) c.380-17_380-10del (n.380-17_380-10del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156594901C>A | CA2676178479 | SGCD | c.383-31C>A (n.383-31C>A) c.380-31C>A (n.380-31C>A) | gnomAD v4 |
| 5 | g.156594901C= | CA1593779085 | SGCD | c.383-31C= (n.383-31C=) c.380-31C= (n.380-31C=) | |
| 5 | g.156594901C>G | CA130623677 | SGCD | c.383-31C>G (n.383-31C>G) c.380-31C>G (n.380-31C>G) | dbSNP |
| 5 | g.156594901_156594905delinsCTCTA | CA1593779086 | SGCD | c.383-31_383-27delinsCTCTA (n.383-31_383-27delinsCTCTA) c.380-31_380-27delinsCTCTA (n.380-31_380-27delinsCTCTA) | |
| 5 | g.156594902T>C | CA806173672 | SGCD | c.383-30T>C (n.383-30T>C) c.380-30T>C (n.380-30T>C) | dbSNP gnomAD v4 |
| 5 | g.156594902T= | CA1593779088 | SGCD | c.383-30T= (n.383-30T=) c.380-30T= (n.380-30T=) | |
| 5 | g.156594905_156594908del | CA1593779087 | SGCD | c.383-27_383-24del (n.383-27_383-24del) c.380-27_380-24del (n.380-27_380-24del) | dbSNP gnomAD v4 |
| 5 | g.156594903C>A | CA2676178480 | SGCD | c.383-29C>A (n.383-29C>A) c.380-29C>A (n.380-29C>A) | gnomAD v4 |
| 5 | g.156594903C= | CA1593779089 | SGCD | c.383-29C= (n.383-29C=) c.380-29C= (n.380-29C=) | |
| 5 | g.156594903C>T | CA563937633 | SGCD | c.383-29C>T (n.383-29C>T) c.380-29C>T (n.380-29C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156594904T>C | CA563937635 | SGCD | c.383-28T>C (n.383-28T>C) c.380-28T>C (n.380-28T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156594904T>G | CA2676178481 | SGCD | c.383-28T>G (n.383-28T>G) c.380-28T>G (n.380-28T>G) | gnomAD v4 |
| 5 | g.156594904T= | CA1593779091 | SGCD | c.383-28T= (n.383-28T=) c.380-28T= (n.380-28T=) | |
| 5 | g.156594904_156594905delinsTA | CA1593779090 | SGCD | c.383-28_383-27delinsTA (n.383-28_383-27delinsTA) c.380-28_380-27delinsTA (n.380-28_380-27delinsTA) | |
| 5 | g.156594905del | CA447388086 | SGCD | c.383-27del (n.383-27del) c.380-27del (n.380-27del) | dbSNP gnomAD v4 |
| 5 | g.156594905A= | CA1593779093 | SGCD | c.383-27A= (n.383-27A=) c.380-27A= (n.380-27A=) | |
| 5 | g.156594905A>C | CA563937636 | SGCD | c.383-27A>C (n.383-27A>C) c.380-27A>C (n.380-27A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156594905A>G | CA563937637 | SGCD | c.383-27A>G (n.383-27A>G) c.380-27A>G (n.380-27A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156594905_156594907delinsATC | CA1593779092 | SGCD | c.383-27_383-25delinsATC (n.383-27_383-25delinsATC) c.380-27_380-25delinsATC (n.380-27_380-25delinsATC) | |
| 5 | g.156594906del | CA362010146 | SGCD | c.383-26del (n.383-26del) c.380-26del (n.380-26del) | |
| 5 | g.156594906T>C | CA806173684 | SGCD | c.383-26T>C (n.383-26T>C) c.380-26T>C (n.380-26T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.156594906T= | CA1593779094 | SGCD | c.383-26T= (n.383-26T=) c.380-26T= (n.380-26T=) | |
| 5 | g.156594911_156594912del | CA3530587 | SGCD | c.383-21_383-20del (n.383-21_383-20del) c.380-21_380-20del (n.380-21_380-20del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156594909_156594912del | CA2676178482 | SGCD | c.383-23_383-20del (n.383-23_383-20del) c.380-23_380-20del (n.380-23_380-20del) | gnomAD v4 |
| 5 | g.156594907C>A | CA2676178483 | SGCD | c.383-25C>A (n.383-25C>A) c.380-25C>A (n.380-25C>A) | gnomAD v4 |
| 5 | g.156594907C= | CA1593779095 | SGCD | c.383-25C= (n.383-25C=) c.380-25C= (n.380-25C=) | |
| 5 | g.156594907C>G | CA2676178484 | SGCD | c.383-25C>G (n.383-25C>G) c.380-25C>G (n.380-25C>G) | gnomAD v4 |
| 5 | g.156594907C>T | CA130623678 | SGCD | c.383-25C>T (n.383-25C>T) c.380-25C>T (n.380-25C>T) | dbSNP |
| 5 | g.156594908T>C | CA2676178485 | SGCD | c.383-24T>C (n.383-24T>C) c.380-24T>C (n.380-24T>C) | gnomAD v4 |
| 5 | g.156594908T>G | CA2676178486 | SGCD | c.383-24T>G (n.383-24T>G) c.380-24T>G (n.380-24T>G) | gnomAD v4 |
| 5 | g.156594909C>A | CA2676178487 | SGCD | c.383-23C>A (n.383-23C>A) c.380-23C>A (n.380-23C>A) | gnomAD v4 |
| 5 | g.156594909C= | CA1593779096 | SGCD | c.383-23C= (n.383-23C=) c.380-23C= (n.380-23C=) | |
| 5 | g.156594909C>G | CA563937642 | SGCD | c.383-23C>G (n.383-23C>G) c.380-23C>G (n.380-23C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156594909C>T | CA563937643 | SGCD | c.383-23C>T (n.383-23C>T) c.380-23C>T (n.380-23C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156594909_156594913delinsCTCTA | CA1593779097 | SGCD | c.383-23_383-19delinsCTCTA (n.383-23_383-19delinsCTCTA) c.380-23_380-19delinsCTCTA (n.380-23_380-19delinsCTCTA) | |
| 5 | g.156594910T>C | CA1593779099 | SGCD | c.383-22T>C (n.383-22T>C) c.380-22T>C (n.380-22T>C) | dbSNP gnomAD v4 |
| 5 | g.156594910T= | CA1593779100 | SGCD | c.383-22T= (n.383-22T=) c.380-22T= (n.380-22T=) | |
| 5 | g.156594910dup | CA2676178488 | SGCD | c.383-22dup (n.383-22dup) c.380-22dup (n.380-22dup) | gnomAD v4 |
| 5 | g.156594913_156594916del | CA1593779098 | SGCD | c.383-19_383-16del (n.383-19_383-16del) c.380-19_380-16del (n.380-19_380-16del) | ClinVar dbSNP gnomAD v4 |
| 5 | g.156594911C>A | CA1593779102 | SGCD | c.383-21C>A (n.383-21C>A) c.380-21C>A (n.380-21C>A) | dbSNP gnomAD v4 |
| 5 | g.156594911C= | CA1593779101 | SGCD | c.383-21C= (n.383-21C=) c.380-21C= (n.380-21C=) | |
| 5 | g.156594911C>G | CA3530588 | SGCD | c.383-21C>G (n.383-21C>G) c.380-21C>G (n.380-21C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156594911C>T | CA2676178489 | SGCD | c.383-21C>T (n.383-21C>T) c.380-21C>T (n.380-21C>T) | gnomAD v4 |
| 5 | g.156594912T>C | CA3530589 | SGCD | c.383-20T>C (n.383-20T>C) c.380-20T>C (n.380-20T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156594912T= | CA1593779103 | SGCD | c.383-20T= (n.383-20T=) c.380-20T= (n.380-20T=) | |
| 5 | g.156594920_156594929del | CA2676178490 | SGCD | c.383-12_383-3del (n.383-12_383-3del) c.380-12_380-3del (n.380-12_380-3del) | gnomAD v4 |
| 5 | g.156594913A= | CA1593779104 | SGCD | c.383-19A= (n.383-19A=) c.380-19A= (n.380-19A=) | |
| 5 | g.156594913A>C | CA563937644 | SGCD | c.383-19A>C (n.383-19A>C) c.380-19A>C (n.380-19A>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156594913A>G | CA806173709 | SGCD | c.383-19A>G (n.383-19A>G) c.380-19A>G (n.380-19A>G) | ClinVar dbSNP gnomAD v4 |
| 5 | g.156594913_156594915delinsATC | CA1593779105 | SGCD | c.383-19_383-17delinsATC (n.383-19_383-17delinsATC) c.380-19_380-17delinsATC (n.380-19_380-17delinsATC) | |
| 5 | g.156594919_156594920del | CA3530590 | SGCD | c.383-13_383-12del (n.383-13_383-12del) c.380-13_380-12del (n.380-13_380-12del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156594915C>A | CA650615324 | SGCD | c.383-17C>A (n.383-17C>A) c.380-17C>A (n.380-17C>A) | gnomAD v4 COSMIC |
| 5 | g.156594915C= | CA1593779106 | SGCD | c.383-17C= (n.383-17C=) c.380-17C= (n.380-17C=) | |
| 5 | g.156594915C>G | CA563937650 | SGCD | c.383-17C>G (n.383-17C>G) c.380-17C>G (n.380-17C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156594915C>T | CA563937647 | SGCD | c.383-17C>T (n.383-17C>T) c.380-17C>T (n.380-17C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156594920_156594921insCCTCTCT | CA2739272765 | SGCD | c.383-12_383-11insCCTCTCT (n.383-12_383-11insCCTCTCT) c.380-12_380-11insCCTCTCT (n.380-12_380-11insCCTCTCT) | |
| 5 | g.156594921_156594928dup | CA2676178491 | SGCD | c.383-11_383-4dup (n.383-11_383-4dup) c.380-11_380-4dup (n.380-11_380-4dup) | ClinVar gnomAD v4 |
| 5 | g.156594917C>A | CA2676178492 | SGCD | c.383-15C>A (n.383-15C>A) c.380-15C>A (n.380-15C>A) | ClinVar gnomAD v4 |
| 5 | g.156594917C>G | CA2739272766 | SGCD | c.383-15C>G (n.383-15C>G) c.380-15C>G (n.380-15C>G) | ClinVar |
| 5 | g.156594918T>C | CA10623663 | SGCD | c.383-14T>C (n.383-14T>C) c.380-14T>C (n.380-14T>C) | ClinVar dbSNP gnomAD v4 |
| 5 | g.156594918T= | CA1593779107 | SGCD | c.383-14T= (n.383-14T=) c.380-14T= (n.380-14T=) | |
| 5 | g.156594919C>A | CA2676178493 | SGCD | c.383-13C>A (n.383-13C>A) c.380-13C>A (n.380-13C>A) | gnomAD v4 |
| 5 | g.156594920T>C | CA1083304405 | SGCD | c.383-12T>C (n.383-12T>C) c.380-12T>C (n.380-12T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.156594920T= | CA1593779108 | SGCD | c.383-12T= (n.383-12T=) c.380-12T= (n.380-12T=) | |
| 5 | g.156594923_156594924del | CA2739272767 | SGCD | c.383-9_383-8del (n.383-9_383-8del) c.380-9_380-8del (n.380-9_380-8del) | ClinVar |
| 5 | g.156594920_156594921insC | CA563937653 | SGCD | c.383-12_383-11insC (n.383-12_383-11insC) c.380-12_380-11insC (n.380-12_380-11insC) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156594921A= | CA1593779109 | SGCD | c.383-11A= (n.383-11A=) c.380-11A= (n.380-11A=) | |
| 5 | g.156594921A>C | CA563937656 | SGCD | c.383-11A>C (n.383-11A>C) c.380-11A>C (n.380-11A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156594921A>G | CA1083304408 | SGCD | c.383-11A>G (n.383-11A>G) c.380-11A>G (n.380-11A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.156594921A>T | CA183421 | SGCD | c.383-11A>T (n.383-11A>T) c.380-11A>T (n.380-11A>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156594922T>C | CA3530591 | SGCD | c.383-10T>C (n.383-10T>C) c.380-10T>C (n.380-10T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156594922T= | CA1593779110 | SGCD | c.383-10T= (n.383-10T=) c.380-10T= (n.380-10T=) | |
| 5 | g.156594922_156594923insCTCTCC | CA563937659 | SGCD | c.383-10_383-9insCTCTCC (n.383-10_383-9insCTCTCC) c.380-10_380-9insCTCTCC (n.380-10_380-9insCTCTCC) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156594923A= | CA1593779112 | SGCD | c.383-9A= (n.383-9A=) c.380-9A= (n.380-9A=) | |
| 5 | g.156594923A>G | CA130623679 | SGCD | c.383-9A>G (n.383-9A>G) c.380-9A>G (n.380-9A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.156594923A>T | CA1593779111 | SGCD | c.383-9A>T (n.383-9A>T) c.380-9A>T (n.380-9A>T) | ClinVar dbSNP gnomAD v4 |
| 5 | g.156594924T>A | CA2578464777 | SGCD | c.383-8T>A (n.383-8T>A) c.380-8T>A (n.380-8T>A) | |
| 5 | g.156594925C>A | CA2676178494 | SGCD | c.383-7C>A (n.383-7C>A) c.380-7C>A (n.380-7C>A) | gnomAD v4 |
| 5 | g.156594925C= | CA1593779113 | SGCD | c.383-7C= (n.383-7C=) c.380-7C= (n.380-7C=) | |
| 5 | g.156594925C>T | CA563937660 | SGCD | c.383-7C>T (n.383-7C>T) c.380-7C>T (n.380-7C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156594927C>A | CA2676178495 | SGCD | c.383-5C>A (n.383-5C>A) c.380-5C>A (n.380-5C>A) | gnomAD v4 |
| 5 | g.156594929C>A | CA2676178496 | SGCD | c.383-3C>A (n.383-3C>A) c.380-3C>A (n.380-3C>A) | gnomAD v4 |
| 5 | g.156594929C>T | CA2676178497 | SGCD | c.383-3C>T (n.383-3C>T) c.380-3C>T (n.380-3C>T) | dbSNP gnomAD v4 |
| 5 | g.156594930A>C | CA362010166 | SGCD | c.383-2A>C (n.383-2A>C) c.380-2A>C (n.380-2A>C) | |
| 5 | g.156594930A>G | CA362010170 | SGCD | c.383-2A>G (n.383-2A>G) c.380-2A>G (n.380-2A>G) | gnomAD v4 |
| 5 | g.156594930A>T | CA362010167 | SGCD | c.383-2A>T (n.383-2A>T) c.380-2A>T (n.380-2A>T) | |
| 5 | g.156594931G>A | CA362010180 | SGCD | c.383-1G>A (n.383-1G>A) c.380-1G>A (n.380-1G>A) | |
| 5 | g.156594931G>C | CA362010183 | SGCD | c.383-1G>C (n.383-1G>C) c.380-1G>C (n.380-1G>C) | |
| 5 | g.156594931G>T | CA362010185 | SGCD | c.383-1G>T (n.383-1G>T) c.380-1G>T (n.380-1G>T) | COSMIC |
| 5 | g.156594932G>A | CA3530592 | SGCD | c.383G>A (p.Gly128Asp) c.380G>A (p.Gly127Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156594932G>C | CA362010188 | SGCD | c.383G>C (p.Gly128Ala) c.380G>C (p.Gly127Ala) | |
| 5 | g.156594932G= | CA1593779114 | SGCD | c.383G= (p.Gly128=) c.380G= (p.Gly127=) | |
| 5 | g.156594932G>T | CA362010189 | SGCD | c.383G>T (p.Gly128Val) c.380G>T (p.Gly127Val) | |
| 5 | g.156594933T>A | CA447388087 | SGCD | c.384T>A (p.Gly128=) c.381T>A (p.Gly127=) | |
| 5 | g.156594933T>C | CA3530593 | SGCD | c.384T>C (p.Gly128=) c.381T>C (p.Gly127=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156594933T>G | CA447388088 | SGCD | c.384T>G (p.Gly128=) c.381T>G (p.Gly127=) | |
| 5 | g.156594933T= | CA1593779115 | SGCD | c.384T= (p.Gly128=) c.381T= (p.Gly127=) | |
| 5 | g.156594934C>A | CA362010191 | SGCD | c.385C>A (p.Pro129Thr) c.382C>A (p.Pro128Thr) | gnomAD v4 COSMIC COSMIC |
| 5 | g.156594934C>G | CA362010193 | SGCD | c.385C>G (p.Pro129Ala) c.382C>G (p.Pro128Ala) | |
| 5 | g.156594934C>T | CA362010195 | SGCD | c.385C>T (p.Pro129Ser) c.382C>T (p.Pro128Ser) | |
| 5 | g.156594935C>A | CA130623680 | SGCD | c.386C>A (p.Pro129Gln) c.383C>A (p.Pro128Gln) | dbSNP gnomAD v4 |
| 5 | g.156594935C= | CA1593779116 | SGCD | c.386C= (p.Pro129=) c.383C= (p.Pro128=) | |
| 5 | g.156594935C>G | CA362010198 | SGCD | c.386C>G (p.Pro129Arg) c.383C>G (p.Pro128Arg) | |
| 5 | g.156594935C>T | CA362010197 | SGCD | c.386C>T (p.Pro129Leu) c.383C>T (p.Pro128Leu) | |
| 5 | g.156594935_156594936delinsCA | CA1593779117 | SGCD | c.386_387delinsCA (p.Pro129=) c.383_384delinsCA (p.Pro128=) | |
| 5 | g.156594936A= | CA1593779118 | SGCD | c.387A= (p.Pro129=) c.384A= (p.Pro128=) | |
| 5 | g.156594936A>C | CA130623681 | SGCD | c.387A>C (p.Pro129=) c.384A>C (p.Pro128=) | dbSNP |
| 5 | g.156594936A>G | CA447388089 | SGCD | c.387A>G (p.Pro129=) c.384A>G (p.Pro128=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.156594936A>T | CA447388090 | SGCD | c.387A>T (p.Pro129=) c.384A>T (p.Pro128=) | |
| 5 | g.156594939del | CA344697 | SGCD | c.390del (p.Ala131ProfsTer2) c.387del (p.Ala130ProfsTer2) | ClinVar dbSNP gnomAD v4 |
| 5 | g.156594937A>C | CA362010200 | SGCD | c.388A>C (p.Lys130Gln) c.385A>C (p.Lys129Gln) | |
| 5 | g.156594937A>G | CA362010202 | SGCD | c.388A>G (p.Lys130Glu) c.385A>G (p.Lys129Glu) | ClinVar |
| 5 | g.156594937A>T | CA362010204 | SGCD | c.388A>T (p.Lys130Ter) c.385A>T (p.Lys129Ter) | |
| 5 | g.156594938A= | CA1593779119 | SGCD | c.389A= (p.Lys130=) c.386A= (p.Lys129=) | |
| 5 | g.156594938A>C | CA362010207 | SGCD | c.389A>C (p.Lys130Thr) c.386A>C (p.Lys129Thr) | |
| 5 | g.156594938A>G | CA362010209 | SGCD | c.389A>G (p.Lys130Arg) c.386A>G (p.Lys129Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156594938A>T | CA362010210 | SGCD | c.389A>T (p.Lys130Ile) c.386A>T (p.Lys129Ile) | |
| 5 | g.156594939A>C | CA362010212 | SGCD | c.390A>C (p.Lys130Asn) c.387A>C (p.Lys129Asn) | |
| 5 | g.156594939A>G | CA447388091 | SGCD | c.390A>G (p.Lys130=) c.387A>G (p.Lys129=) | gnomAD v4 |
| 5 | g.156594939A>T | CA362010211 | SGCD | c.390A>T (p.Lys130Asn) c.387A>T (p.Lys129Asn) | |
| 5 | g.156594940G>A | CA362010213 | SGCD | c.391G>A (p.Ala131Thr) c.388G>A (p.Ala130Thr) | |
| 5 | g.156594940G>C | CA340756 | SGCD | c.391G>C (p.Ala131Pro) c.388G>C (p.Ala130Pro) | ClinVar dbSNP |
| 5 | g.156594940G= | CA1593779120 | SGCD | c.391G= (p.Ala131=) c.388G= (p.Ala130=) | |
| 5 | g.156594940G>T | CA362010215 | SGCD | c.391G>T (p.Ala131Ser) c.388G>T (p.Ala130Ser) | |
| 5 | g.156594941C>A | CA362010222 | SGCD | c.392C>A (p.Ala131Asp) c.389C>A (p.Ala130Asp) | gnomAD v4 |
| 5 | g.156594941C>G | CA362010231 | SGCD | c.392C>G (p.Ala131Gly) c.389C>G (p.Ala130Gly) | |
| 5 | g.156594941C>T | CA362010228 | SGCD | c.392C>T (p.Ala131Val) c.389C>T (p.Ala130Val) | |
| 5 | g.156594942C>A | CA447388092 | SGCD | c.393C>A (p.Ala131=) c.390C>A (p.Ala130=) | dbSNP gnomAD v2 |
| 5 | g.156594942C= | CA1593779121 | SGCD | c.393C= (p.Ala131=) c.390C= (p.Ala130=) | |
| 5 | g.156594942C>G | CA447388093 | SGCD | c.393C>G (p.Ala131=) c.390C>G (p.Ala130=) | |
| 5 | g.156594942C>T | CA142630 | SGCD | c.393C>T (p.Ala131=) c.390C>T (p.Ala130=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156594943G>A | CA180989 | SGCD | c.394G>A (p.Val132Ile) c.391G>A (p.Val131Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156594943G>C | CA362010237 | SGCD | c.394G>C (p.Val132Leu) c.391G>C (p.Val131Leu) | |
| 5 | g.156594943G= | CA1593779122 | SGCD | c.394G= (p.Val132=) c.391G= (p.Val131=) | |
| 5 | g.156594943G>T | CA3530594 | SGCD | c.394G>T (p.Val132Leu) c.391G>T (p.Val131Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156594944T>A | CA362010250 | SGCD | c.395T>A (p.Val132Glu) c.392T>A (p.Val131Glu) | |
| 5 | g.156594944T>C | CA362010252 | SGCD | c.395T>C (p.Val132Ala) c.392T>C (p.Val131Ala) | |
| 5 | g.156594944T>G | CA362010258 | SGCD | c.395T>G (p.Val132Gly) c.392T>G (p.Val131Gly) | |
| 5 | g.156594945A>C | CA447388094 | SGCD | c.396A>C (p.Val132=) c.393A>C (p.Val131=) | |
| 5 | g.156594945A>G | CA447388096 | SGCD | c.396A>G (p.Val132=) c.393A>G (p.Val131=) | |
| 5 | g.156594945A>T | CA447388095 | SGCD | c.396A>T (p.Val132=) c.393A>T (p.Val131=) | |
| 5 | g.156594946G>A | CA362010261 | SGCD | c.397G>A (p.Glu133Lys) c.394G>A (p.Glu132Lys) | |
| 5 | g.156594946G>C | CA3530595 | SGCD | c.397G>C (p.Glu133Gln) c.394G>C (p.Glu132Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156594946G= | CA1593779123 | SGCD | c.397G= (p.Glu133=) c.394G= (p.Glu132=) | |
| 5 | g.156594946G>T | CA362010268 | SGCD | c.397G>T (p.Glu133Ter) c.394G>T (p.Glu132Ter) | |
| 5 | g.156594947A>C | CA362010272 | SGCD | c.398A>C (p.Glu133Ala) c.395A>C (p.Glu132Ala) | |
| 5 | g.156594947A>G | CA362010271 | SGCD | c.398A>G (p.Glu133Gly) c.395A>G (p.Glu132Gly) | |
| 5 | g.156594947A>T | CA362010270 | SGCD | c.398A>T (p.Glu133Val) c.395A>T (p.Glu132Val) | |
| 5 | g.156594948A= | CA1593779124 | SGCD | c.399A= (p.Glu133=) c.396A= (p.Glu132=) | |
| 5 | g.156594948A>C | CA3530596 | SGCD | c.399A>C (p.Glu133Asp) c.396A>C (p.Glu132Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156594948A>G | CA447388097 | SGCD | c.399A>G (p.Glu133=) c.396A>G (p.Glu132=) | |
| 5 | g.156594948A>T | CA362010278 | SGCD | c.399A>T (p.Glu133Asp) c.396A>T (p.Glu132Asp) | |
| 5 | g.156594949del | CA2695198787 | SGCD | c.400del (p.Ala134LeufsTer8) c.397del (p.Ala133LeufsTer8) | ClinVar |
| 5 | g.156594949G>A | CA362010288 | SGCD | c.400G>A (p.Ala134Thr) c.397G>A (p.Ala133Thr) | |
| 5 | g.156594949G>C | CA362010291 | SGCD | c.400G>C (p.Ala134Pro) c.397G>C (p.Ala133Pro) | |
| 5 | g.156594949G>T | CA362010293 | SGCD | c.400G>T (p.Ala134Ser) c.397G>T (p.Ala133Ser) | |
| 5 | g.156594950C>A | CA362010296 | SGCD | c.401C>A (p.Ala134Asp) c.398C>A (p.Ala133Asp) | |
| 5 | g.156594950C= | CA1593779125 | SGCD | c.401C= (p.Ala134=) c.398C= (p.Ala133=) | |
| 5 | g.156594950C>G | CA362010299 | SGCD | c.401C>G (p.Ala134Gly) c.398C>G (p.Ala133Gly) | |
| 5 | g.156594950C>T | CA3530597 | SGCD | c.401C>T (p.Ala134Val) c.398C>T (p.Ala133Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156594951T>A | CA447388098 | SGCD | c.402T>A (p.Ala134=) c.399T>A (p.Ala133=) | dbSNP |
| 5 | g.156594951T>C | CA308776 | SGCD | c.402T>C (p.Ala134=) c.399T>C (p.Ala133=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156594951T>G | CA447388099 | SGCD | c.402T>G (p.Ala134=) c.399T>G (p.Ala133=) | |
| 5 | g.156594951T= | CA1593779126 | SGCD | c.402T= (p.Ala134=) c.399T= (p.Ala133=) | |
| 5 | g.156594952del | CA2676178498 | SGCD | c.403del (p.Tyr135MetfsTer7) c.400del (p.Tyr134MetfsTer7) | gnomAD v4 |
| 5 | g.156594952T>A | CA362010310 | SGCD | c.403T>A (p.Tyr135Asn) c.400T>A (p.Tyr134Asn) | |
| 5 | g.156594952T>C | CA362010309 | SGCD | c.403T>C (p.Tyr135His) c.400T>C (p.Tyr134His) | |
| 5 | g.156594952T>G | CA362010308 | SGCD | c.403T>G (p.Tyr135Asp) c.400T>G (p.Tyr134Asp) | |
| 5 | g.156594953A>C | CA362010311 | SGCD | c.404A>C (p.Tyr135Ser) c.401A>C (p.Tyr134Ser) | |
| 5 | g.156594953A>G | CA362010316 | SGCD | c.404A>G (p.Tyr135Cys) c.401A>G (p.Tyr134Cys) | |
| 5 | g.156594953A>T | CA362010318 | SGCD | c.404A>T (p.Tyr135Phe) c.401A>T (p.Tyr134Phe) | |
| 5 | g.156594954T>A | CA362010319 | SGCD | c.405T>A (p.Tyr135Ter) c.402T>A (p.Tyr134Ter) | |
| 5 | g.156594954T>C | CA3530598 | SGCD | c.405T>C (p.Tyr135=) c.402T>C (p.Tyr134=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.156594954T>G | CA362010320 | SGCD | c.405T>G (p.Tyr135Ter) c.402T>G (p.Tyr134Ter) | |
| 5 | g.156594954T= | CA1593779127 | SGCD | c.405T= (p.Tyr135=) c.402T= (p.Tyr134=) | |
| 5 | g.156594955G>A | CA362010325 | SGCD | c.406G>A (p.Gly136Ser) c.403G>A (p.Gly135Ser) | |
| 5 | g.156594955G>C | CA362010330 | SGCD | c.406G>C (p.Gly136Arg) c.403G>C (p.Gly135Arg) | |
| 5 | g.156594955G>T | CA362010333 | SGCD | c.406G>T (p.Gly136Cys) c.403G>T (p.Gly135Cys) | |
| 5 | g.156594956G>A | CA362010340 | SGCD | c.407G>A (p.Gly136Asp) c.404G>A (p.Gly135Asp) | |
| 5 | g.156594956G>C | CA362010336 | SGCD | c.407G>C (p.Gly136Ala) c.404G>C (p.Gly135Ala) | |
| 5 | g.156594956G>T | CA362010339 | SGCD | c.407G>T (p.Gly136Val) c.404G>T (p.Gly135Val) | |
| 5 | g.156594957T>A | CA447388100 | SGCD | c.408T>A (p.Gly136=) c.405T>A (p.Gly135=) | |
| 5 | g.156594957T>C | CA447388101 | SGCD | c.408T>C (p.Gly136=) c.405T>C (p.Gly135=) | dbSNP |
| 5 | g.156594957T>G | CA447388102 | SGCD | c.408T>G (p.Gly136=) c.405T>G (p.Gly135=) | |
| 5 | g.156594957T= | CA1593779128 | SGCD | c.408T= (p.Gly136=) c.405T= (p.Gly135=) | |
| 5 | g.156594957_156594958delinsTA | CA1593779129 | SGCD | c.408_409delinsTA (p.Gly136=) c.405_406delinsTA (p.Gly135=) | |
| 5 | g.156594958A>C | CA362010341 | SGCD | c.409A>C (p.Lys137Gln) c.406A>C (p.Lys136Gln) | |
| 5 | g.156594958A>G | CA362010343 | SGCD | c.409A>G (p.Lys137Glu) c.406A>G (p.Lys136Glu) | |
| 5 | g.156594958A>T | CA362010346 | SGCD | c.409A>T (p.Lys137Ter) c.406A>T (p.Lys136Ter) | |
| 5 | g.156594963dup | CA2676178499 | SGCD | c.414dup (p.Phe139IlefsTer2) c.411dup (p.Phe138IlefsTer2) | ClinVar gnomAD v4 |
| 5 | g.156594963del | CA563937671 | SGCD | c.414del (p.Lys138AsnfsTer4) c.411del (p.Lys137AsnfsTer4) | dbSNP gnomAD v2 |
| 5 | g.156594959A>C | CA362010347 | SGCD | c.410A>C (p.Lys137Thr) c.407A>C (p.Lys136Thr) | |
| 5 | g.156594959A>G | CA362010348 | SGCD | c.410A>G (p.Lys137Arg) c.407A>G (p.Lys136Arg) | |
| 5 | g.156594959A>T | CA362010350 | SGCD | c.410A>T (p.Lys137Ile) c.407A>T (p.Lys136Ile) | |
| 5 | g.156594960A>C | CA362010357 | SGCD | c.411A>C (p.Lys137Asn) c.408A>C (p.Lys136Asn) | gnomAD v4 |
| 5 | g.156594960A>G | CA447388103 | SGCD | c.411A>G (p.Lys137=) c.408A>G (p.Lys136=) | |
| 5 | g.156594960A>T | CA362010358 | SGCD | c.411A>T (p.Lys137Asn) c.408A>T (p.Lys136Asn) | |
| 5 | g.156594961A>C | CA362010364 | SGCD | c.412A>C (p.Lys138Gln) c.409A>C (p.Lys137Gln) | |
| 5 | g.156594961A>G | CA362010362 | SGCD | c.412A>G (p.Lys138Glu) c.409A>G (p.Lys137Glu) | |
| 5 | g.156594961A>T | CA362010361 | SGCD | c.412A>T (p.Lys138Ter) c.409A>T (p.Lys137Ter) | |
| 5 | g.156594962A= | CA1593779130 | SGCD | c.413A= (p.Lys138=) c.410A= (p.Lys137=) | |
| 5 | g.156594962A>C | CA362010367 | SGCD | c.413A>C (p.Lys138Thr) c.410A>C (p.Lys137Thr) | |
| 5 | g.156594962A>G | CA362010372 | SGCD | c.413A>G (p.Lys138Arg) c.410A>G (p.Lys137Arg) | ClinVar |
| 5 | g.156594962A>T | CA362010375 | SGCD | c.413A>T (p.Lys138Ile) c.410A>T (p.Lys137Ile) | ClinVar dbSNP |
| 5 | g.156594963A= | CA1593779131 | SGCD | c.414A= (p.Lys138=) c.411A= (p.Lys137=) | |
| 5 | g.156594963A>C | CA362010378 | SGCD | c.414A>C (p.Lys138Asn) c.411A>C (p.Lys137Asn) | |
| 5 | g.156594963A>G | CA447388104 | SGCD | c.414A>G (p.Lys138=) c.411A>G (p.Lys137=) | ClinVar |
| 5 | g.156594963A>T | CA362010380 | SGCD | c.414A>T (p.Lys138Asn) c.411A>T (p.Lys137Asn) | ClinVar dbSNP |
| 5 | g.156594964T>A | CA10606421 | SGCD | c.415T>A (p.Phe139Ile) c.412T>A (p.Phe138Ile) | ClinVar dbSNP gnomAD v4 |
| 5 | g.156594964T>C | CA362010381 | SGCD | c.415T>C (p.Phe139Leu) c.412T>C (p.Phe138Leu) | |
| 5 | g.156594964T>G | CA362010383 | SGCD | c.415T>G (p.Phe139Val) c.412T>G (p.Phe138Val) | gnomAD v4 |
| 5 | g.156594964T= | CA1593779132 | SGCD | c.415T= (p.Phe139=) c.412T= (p.Phe138=) | |
| 5 | g.156594965T>A | CA362010386 | SGCD | c.416T>A (p.Phe139Tyr) c.413T>A (p.Phe138Tyr) | |
| 5 | g.156594965T>C | CA362010389 | SGCD | c.416T>C (p.Phe139Ser) c.413T>C (p.Phe138Ser) | gnomAD v4 |
| 5 | g.156594965T>G | CA362010393 | SGCD | c.416T>G (p.Phe139Cys) c.413T>G (p.Phe138Cys) | |
| 5 | g.156594966T>A | CA362010396 | SGCD | c.417T>A (p.Phe139Leu) c.414T>A (p.Phe138Leu) | |
| 5 | g.156594966T>C | CA447388105 | SGCD | c.417T>C (p.Phe139=) c.414T>C (p.Phe138=) | |
| 5 | g.156594966T>G | CA362010394 | SGCD | c.417T>G (p.Phe139Leu) c.414T>G (p.Phe138Leu) | |
| 5 | g.156594967G>A | CA362010398 | SGCD | c.418G>A (p.Glu140Lys) c.415G>A (p.Glu139Lys) | |
| 5 | g.156594967G>C | CA362010399 | SGCD | c.418G>C (p.Glu140Gln) c.415G>C (p.Glu139Gln) | |
| 5 | g.156594967G>T | CA362010400 | SGCD | c.418G>T (p.Glu140Ter) c.415G>T (p.Glu139Ter) | gnomAD v4 |
| 5 | g.156594968A>C | CA362010403 | SGCD | c.419A>C (p.Glu140Ala) c.416A>C (p.Glu139Ala) | |
| 5 | g.156594968A>G | CA362010408 | SGCD | c.419A>G (p.Glu140Gly) c.416A>G (p.Glu139Gly) | |
| 5 | g.156594968A>T | CA362010409 | SGCD | c.419A>T (p.Glu140Val) c.416A>T (p.Glu139Val) | |
| 5 | g.156594969G>A | CA447388106 | SGCD | c.420G>A (p.Glu140=) c.417G>A (p.Glu139=) | |
| 5 | g.156594969G>C | CA362010410 | SGCD | c.420G>C (p.Glu140Asp) c.417G>C (p.Glu139Asp) | |
| 5 | g.156594969G>T | CA362010413 | SGCD | c.420G>T (p.Glu140Asp) c.417G>T (p.Glu139Asp) | |
| 5 | g.156594970G>A | CA362010417 | SGCD | c.421G>A (p.Val141Ile) c.418G>A (p.Val140Ile) | |
| 5 | g.156594970G>C | CA362010420 | SGCD | c.421G>C (p.Val141Leu) c.418G>C (p.Val140Leu) | |
| 5 | g.156594970G= | CA1593779133 | SGCD | c.421G= (p.Val141=) c.418G= (p.Val140=) | |
| 5 | g.156594970G>T | CA362010422 | SGCD | c.421G>T (p.Val141Leu) c.418G>T (p.Val140Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156594971T>A | CA362010425 | SGCD | c.422T>A (p.Val141Glu) c.419T>A (p.Val140Glu) | |
| 5 | g.156594971T>C | CA362010430 | SGCD | c.422T>C (p.Val141Ala) c.419T>C (p.Val140Ala) | |
| 5 | g.156594971T>G | CA362010428 | SGCD | c.422T>G (p.Val141Gly) c.419T>G (p.Val140Gly) | |
| 5 | g.156594971dup | CA2573052468 | SGCD | c.422dup (p.Thr143AsnfsTer13) c.419dup (p.Thr142AsnfsTer13) | ClinVar dbSNP |
| 5 | g.156594972A>C | CA447388109 | SGCD | c.423A>C (p.Val141=) c.420A>C (p.Val140=) | |
| 5 | g.156594972A>G | CA447388108 | SGCD | c.423A>G (p.Val141=) c.420A>G (p.Val140=) | |
| 5 | g.156594972A>T | CA447388107 | SGCD | c.423A>T (p.Val141=) c.420A>T (p.Val140=) | |
| 5 | g.156594973A>C | CA362010436 | SGCD | c.424A>C (p.Lys142Gln) c.421A>C (p.Lys141Gln) | |
| 5 | g.156594973A>G | CA362010440 | SGCD | c.424A>G (p.Lys142Glu) c.421A>G (p.Lys141Glu) | |
| 5 | g.156594973A>T | CA362010444 | SGCD | c.424A>T (p.Lys142Ter) c.421A>T (p.Lys141Ter) | |
| 5 | g.156594974A>C | CA362010447 | SGCD | c.425A>C (p.Lys142Thr) c.422A>C (p.Lys141Thr) | |
| 5 | g.156594974A>G | CA362010448 | SGCD | c.425A>G (p.Lys142Arg) c.422A>G (p.Lys141Arg) | |
| 5 | g.156594974A>T | CA362010449 | SGCD | c.425A>T (p.Lys142Ile) c.422A>T (p.Lys141Ile) | |
| 5 | g.156594975A>C | CA362010452 | SGCD | c.426A>C (p.Lys142Asn) c.423A>C (p.Lys141Asn) | gnomAD v4 |
| 5 | g.156594975A>G | CA447388110 | SGCD | c.426A>G (p.Lys142=) c.423A>G (p.Lys141=) | |
| 5 | g.156594975A>T | CA362010453 | SGCD | c.426A>T (p.Lys142Asn) c.423A>T (p.Lys141Asn) | |
| 5 | g.156594976A= | CA1593779134 | SGCD | c.427A= (p.Thr143=) c.424A= (p.Thr142=) | |
| 5 | g.156594976A>C | CA362010457 | SGCD | c.427A>C (p.Thr143Pro) c.424A>C (p.Thr142Pro) | gnomAD v4 |
| 5 | g.156594976A>G | CA362010455 | SGCD | c.427A>G (p.Thr143Ala) c.424A>G (p.Thr142Ala) | gnomAD v4 |
| 5 | g.156594976A>T | CA362010454 | SGCD | c.427A>T (p.Thr143Ser) c.424A>T (p.Thr142Ser) | dbSNP |
| 5 | g.156594977C>A | CA362010459 | SGCD | c.428C>A (p.Thr143Asn) c.425C>A (p.Thr142Asn) | |
| 5 | g.156594977C>G | CA362010461 | SGCD | c.428C>G (p.Thr143Ser) c.425C>G (p.Thr142Ser) | |
| 5 | g.156594977C>T | CA362010463 | SGCD | c.428C>T (p.Thr143Ile) c.425C>T (p.Thr142Ile) | |
| 5 | g.156594978T>A | CA447388111 | SGCD | c.429T>A (p.Thr143=) c.426T>A (p.Thr142=) | |
| 5 | g.156594978T>C | CA447388112 | SGCD | c.429T>C (p.Thr143=) c.426T>C (p.Thr142=) | |
| 5 | g.156594978T>G | CA447388113 | SGCD | c.429T>G (p.Thr143=) c.426T>G (p.Thr142=) | |
| 5 | g.156594979G>A | CA362010466 | SGCD | c.430G>A (p.Val144Ile) c.427G>A (p.Val143Ile) | gnomAD v4 |
| 5 | g.156594979G>C | CA362010472 | SGCD | c.430G>C (p.Val144Leu) c.427G>C (p.Val143Leu) | gnomAD v4 |
| 5 | g.156594979G>T | CA362010474 | SGCD | c.430G>T (p.Val144Phe) c.427G>T (p.Val143Phe) | |
| 5 | g.156594980T>A | CA362010476 | SGCD | c.431T>A (p.Val144Asp) c.428T>A (p.Val143Asp) | |
| 5 | g.156594980T>C | CA362010477 | SGCD | c.431T>C (p.Val144Ala) c.428T>C (p.Val143Ala) | |
| 5 | g.156594980T>G | CA362010478 | SGCD | c.431T>G (p.Val144Gly) c.428T>G (p.Val143Gly) | |
| 5 | g.156594981T>A | CA447388114 | SGCD | c.432T>A (p.Val144=) c.429T>A (p.Val143=) | |
| 5 | g.156594981T>C | CA447388115 | SGCD | c.432T>C (p.Val144=) c.429T>C (p.Val143=) | |
| 5 | g.156594981T>G | CA447388116 | SGCD | c.432T>G (p.Val144=) c.429T>G (p.Val143=) | |
| 5 | g.156594982T>A | CA362010485 | SGCD | c.433T>A (p.Ser145Thr) c.430T>A (p.Ser144Thr) | gnomAD v4 |
| 5 | g.156594982T>C | CA362010482 | SGCD | c.433T>C (p.Ser145Pro) c.430T>C (p.Ser144Pro) | |
| 5 | g.156594982T>G | CA362010481 | SGCD | c.433T>G (p.Ser145Ala) c.430T>G (p.Ser144Ala) | |
| 5 | g.156594983C>A | CA362010488 | SGCD | c.434C>A (p.Ser145Tyr) c.431C>A (p.Ser144Tyr) | |
| 5 | g.156594983C= | CA1593779135 | SGCD | c.434C= (p.Ser145=) c.431C= (p.Ser144=) | |
| 5 | g.156594983C>G | CA362010491 | SGCD | c.434C>G (p.Ser145Cys) c.431C>G (p.Ser144Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156594983C>T | CA362010494 | SGCD | c.434C>T (p.Ser145Phe) c.431C>T (p.Ser144Phe) | |
| 5 | g.156594984T>A | CA447388117 | SGCD | c.435T>A (p.Ser145=) c.432T>A (p.Ser144=) | |
| 5 | g.156594984T>C | CA447388118 | SGCD | c.435T>C (p.Ser145=) c.432T>C (p.Ser144=) | |
| 5 | g.156594984T>G | CA447388119 | SGCD | c.435T>G (p.Ser145=) c.432T>G (p.Ser144=) | gnomAD v4 |
| 5 | g.156594985G>A | CA362010498 | SGCD | c.436G>A (p.Gly146Arg) c.433G>A (p.Gly145Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156594985G>C | CA362010500 | SGCD | c.436G>C (p.Gly146Arg) c.433G>C (p.Gly145Arg) | |
| 5 | g.156594985G= | CA1593779136 | SGCD | c.436G= (p.Gly146=) c.433G= (p.Gly145=) | |
| 5 | g.156594985G>T | CA362010503 | SGCD | c.436G>T (p.Gly146Ter) c.433G>T (p.Gly145Ter) | |
| 5 | g.156594986G>A | CA362010506 | SGCD | c.437G>A (p.Gly146Glu) c.434G>A (p.Gly145Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 5 | g.156594986G>C | CA362010515 | SGCD | c.437G>C (p.Gly146Ala) c.434G>C (p.Gly145Ala) | |
| 5 | g.156594986G= | CA1593779137 | SGCD | c.437G= (p.Gly146=) c.434G= (p.Gly145=) | |
| 5 | g.156594986G>T | CA362010517 | SGCD | c.437G>T (p.Gly146Val) c.434G>T (p.Gly145Val) | ClinVar dbSNP |
| 5 | g.156594987A>C | CA447388120 | SGCD | c.438A>C (p.Gly146=) c.435A>C (p.Gly145=) | |
| 5 | g.156594987A>G | CA447388121 | SGCD | c.438A>G (p.Gly146=) c.435A>G (p.Gly145=) | |
| 5 | g.156594987A>T | CA447388122 | SGCD | c.438A>T (p.Gly146=) c.435A>T (p.Gly145=) | |
| 5 | g.156594990dup | CA1593779138 | SGCD | c.441dup (p.Leu148IlefsTer8) c.438dup (p.Leu147IlefsTer8) | ClinVar dbSNP |
| 5 | g.156594988A>C | CA362010521 | SGCD | c.439A>C (p.Lys147Gln) c.436A>C (p.Lys146Gln) | |
| 5 | g.156594988A>G | CA362010522 | SGCD | c.439A>G (p.Lys147Glu) c.436A>G (p.Lys146Glu) | |
| 5 | g.156594988A>T | CA362010523 | SGCD | c.439A>T (p.Lys147Ter) c.436A>T (p.Lys146Ter) | |
| 5 | g.156594989A>C | CA362010526 | SGCD | c.440A>C (p.Lys147Thr) c.437A>C (p.Lys146Thr) | gnomAD v4 |
| 5 | g.156594989A>G | CA362010533 | SGCD | c.440A>G (p.Lys147Arg) c.437A>G (p.Lys146Arg) | |
| 5 | g.156594989A>T | CA362010531 | SGCD | c.440A>T (p.Lys147Ile) c.437A>T (p.Lys146Ile) | |
| 5 | g.156594990A>C | CA362010535 | SGCD | c.441A>C (p.Lys147Asn) c.438A>C (p.Lys146Asn) | gnomAD v4 |
| 5 | g.156594990A>G | CA447388123 | SGCD | c.441A>G (p.Lys147=) c.438A>G (p.Lys146=) | gnomAD v4 |
| 5 | g.156594990A>T | CA362010536 | SGCD | c.441A>T (p.Lys147Asn) c.438A>T (p.Lys146Asn) | |
| 5 | g.156594991T>A | CA362010537 | SGCD | c.442T>A (p.Leu148Met) c.439T>A (p.Leu147Met) | gnomAD v4 |
| 5 | g.156594991T>C | CA447388124 | SGCD | c.442T>C (p.Leu148=) c.439T>C (p.Leu147=) | |
| 5 | g.156594991T>G | CA362010538 | SGCD | c.442T>G (p.Leu148Val) c.439T>G (p.Leu147Val) | |
| 5 | g.156594992T>A | CA10605547 | SGCD | c.443T>A (p.Leu148Ter) c.440T>A (p.Leu147Ter) | ClinVar dbSNP |
| 5 | g.156594992T>C | CA362010544 | SGCD | c.443T>C (p.Leu148Ser) c.440T>C (p.Leu147Ser) | |
| 5 | g.156594992T>G | CA362010547 | SGCD | c.443T>G (p.Leu148Trp) c.440T>G (p.Leu147Trp) | gnomAD v4 |
| 5 | g.156594992T= | CA1593779139 | SGCD | c.443T= (p.Leu148=) c.440T= (p.Leu147=) | |
| 5 | g.156594993G>A | CA447388125 | SGCD | c.444G>A (p.Leu148=) c.441G>A (p.Leu147=) | |
| 5 | g.156594993G>C | CA362010551 | SGCD | c.444G>C (p.Leu148Phe) c.441G>C (p.Leu147Phe) | |
| 5 | g.156594993G>T | CA362010554 | SGCD | c.444G>T (p.Leu148Phe) c.441G>T (p.Leu147Phe) | gnomAD v4 COSMIC COSMIC |
| 5 | g.156594994C>A | CA362010561 | SGCD | c.445C>A (p.Leu149Ile) c.442C>A (p.Leu148Ile) | |
| 5 | g.156594994C= | CA1593779140 | SGCD | c.445C= (p.Leu149=) c.442C= (p.Leu148=) | |
| 5 | g.156594994C>G | CA3530599 | SGCD | c.445C>G (p.Leu149Val) c.442C>G (p.Leu148Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156594994C>T | CA362010558 | SGCD | c.445C>T (p.Leu149Phe) c.442C>T (p.Leu148Phe) | gnomAD v4 |
| 5 | g.156594995T>A | CA362010564 | SGCD | c.446T>A (p.Leu149His) c.443T>A (p.Leu148His) | |
| 5 | g.156594995T>C | CA362010565 | SGCD | c.446T>C (p.Leu149Pro) c.443T>C (p.Leu148Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156594995T>G | CA362010566 | SGCD | c.446T>G (p.Leu149Arg) c.443T>G (p.Leu148Arg) | |
| 5 | g.156594995T= | CA1593779141 | SGCD | c.446T= (p.Leu149=) c.443T= (p.Leu148=) | |
| 5 | g.156594996C>A | CA447388126 | SGCD | c.447C>A (p.Leu149=) c.444C>A (p.Leu148=) | |
| 5 | g.156594996C= | CA1593779142 | SGCD | c.447C= (p.Leu149=) c.444C= (p.Leu148=) | |
| 5 | g.156594996C>G | CA447388128 | SGCD | c.447C>G (p.Leu149=) c.444C>G (p.Leu148=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.156594996C>T | CA447388127 | SGCD | c.447C>T (p.Leu149=) c.444C>T (p.Leu148=) | ClinVar gnomAD v4 |
| 5 | g.156594997T>A | CA362010567 | SGCD | c.448T>A (p.Phe150Ile) c.445T>A (p.Phe149Ile) | |
| 5 | g.156594997T>C | CA362010568 | SGCD | c.448T>C (p.Phe150Leu) c.445T>C (p.Phe149Leu) | gnomAD v4 |
| 5 | g.156594997T>G | CA362010570 | SGCD | c.448T>G (p.Phe150Val) c.445T>G (p.Phe149Val) | |
| 5 | g.156594998T>A | CA362010572 | SGCD | c.449T>A (p.Phe150Tyr) c.446T>A (p.Phe149Tyr) | |
| 5 | g.156594998T>C | CA362010574 | SGCD | c.449T>C (p.Phe150Ser) c.446T>C (p.Phe149Ser) | gnomAD v4 |
| 5 | g.156594998T>G | CA362010575 | SGCD | c.449T>G (p.Phe150Cys) c.446T>G (p.Phe149Cys) | |
| 5 | g.156594999C>A | CA362010577 | SGCD | c.450C>A (p.Phe150Leu) c.447C>A (p.Phe149Leu) | |
| 5 | g.156594999C>G | CA362010580 | SGCD | c.450C>G (p.Phe150Leu) c.447C>G (p.Phe149Leu) | COSMIC |
| 5 | g.156594999C>T | CA447388129 | SGCD | c.450C>T (p.Phe150=) c.447C>T (p.Phe149=) | |
| 5 | g.156595000T>A | CA362010588 | SGCD | c.451T>A (p.Ser151Thr) c.448T>A (p.Ser150Thr) | |
| 5 | g.156595000T>C | CA362010583 | SGCD | c.451T>C (p.Ser151Pro) c.448T>C (p.Ser150Pro) | gnomAD v4 |
| 5 | g.156595000T>G | CA119347 | SGCD | c.451T>G (p.Ser151Ala) c.448T>G (p.Ser150Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156595000T= | CA1593779143 | SGCD | c.451T= (p.Ser151=) c.448T= (p.Ser150=) | |
| 5 | g.156595001C>A | CA362010589 | SGCD | c.452C>A (p.Ser151Tyr) c.449C>A (p.Ser150Tyr) | |
| 5 | g.156595001C= | CA1593779144 | SGCD | c.452C= (p.Ser151=) c.449C= (p.Ser150=) | |
| 5 | g.156595001C>G | CA362010590 | SGCD | c.452C>G (p.Ser151Cys) c.449C>G (p.Ser150Cys) | gnomAD v4 COSMIC |
| 5 | g.156595001C>T | CA3530600 | SGCD | c.452C>T (p.Ser151Phe) c.449C>T (p.Ser150Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |