Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.52038205_52038273del | CA2670614559 | SGCB | c.-8_33+28del | gnomAD v4 |
4 | g.52038206_52038268del | CA2670614562 | SGCB | c.-3_33+27del | gnomAD v4 |
4 | g.52038211_52038279del | CA2670614576 | SGCB | c.-15_33+21del | gnomAD v4 |
4 | g.52038211_52038273del | CA2670614579 | SGCB | c.-10_33+20del | gnomAD v4 |
4 | g.52038247_52038281dup | CA2739270062 | SGCB | c.-12_23dup (p.Ala9GlyfsTer22) c.-12_23dup (p.Ala9GlyfsTer16) | ClinVar |
4 | g.52038247_52038281del | CA2670614614 | SGCB | c.-12_23del | gnomAD v4 |
4 | g.52038250_52038281dup | CA658657385 | SGCB | c.-10_22dup (p.Ala8GlyfsTer22) c.-10_22dup (p.Ala8GlyfsTer16) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038250_52038281del | CA2670614616 | SGCB | c.-10_22del | gnomAD v4 |
4 | g.52038245_52038267del | CA2670614619 | SGCB | c.-4_19del | gnomAD v4 |
4 | g.52038251_52038279dup | CA1062454577 | SGCB | c.-10_19dup (p.Ala7GlyfsTer22) c.-10_19dup (p.Ala7GlyfsTer16) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038251_52038279del | CA2670614620 | SGCB | c.-10_19del | gnomAD v4 |
4 | g.52038251_52038276dup | CA2670614622 | SGCB | c.-10_16dup (p.Ala6GlyfsTer22) c.-10_16dup (p.Ala6GlyfsTer16) | ClinVar gnomAD v4 |
4 | g.52038251_52038273dup | CA2670614624 | SGCB | c.-10_13dup (p.Ala5GlyfsTer22) c.-10_13dup (p.Ala5GlyfsTer16) | gnomAD v4 |
4 | g.52038251_52038273del | CA2573137768 | SGCB | c.-10_13del | ClinVar dbSNP |
4 | g.52038251_52038274delinsTGCCGCCATCTTCCCGCGCCCGCC | CA1457434192 | SGCB | c.-15_9delinsGGCGGGCGCGGGAAGATGGCGGCA | |
4 | g.52038255_52038270dup | CA2670614632 | SGCB | c.-8_8dup (p.Ala4ArgfsTer26) c.-8_8dup (p.Ala4ArgfsTer30) | ClinVar gnomAD v4 |
4 | g.52038258_52038277dup | CA796086297 | SGCB | c.-12_8dup (p.Ala4GlyfsTer22) c.-12_8dup (p.Ala4GlyfsTer16) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038258_52038280dup | CA2695199379 | SGCB | c.-15_8dup (p.Ala5GlyfsTer22) c.-15_8dup (p.Ala5GlyfsTer16) | ClinVar |
4 | g.52038258_52038280del | CA16040957 | SGCB | c.-15_8del | ClinVar dbSNP gnomAD v4 |
4 | g.52038256_52038281dup | CA2499217223 | SGCB | c.-18_8dup (p.Ala6GlyfsTer22) c.-18_8dup (p.Ala6GlyfsTer16) | ClinVar dbSNP gnomAD v4 |
4 | g.52038256_52038281del | CA2670614633 | SGCB | c.-18_8del | gnomAD v4 |
4 | g.52038253_52038281del | CA2670614631 | SGCB | c.-21_8del | gnomAD v4 |
4 | g.52038257_52038259delinsCAT | CA1457434195 | SGCB | c.1_3delinsATG (p.Met1=) | |
4 | g.52038258A= | CA1457434196 | SGCB | c.2T= (p.Met1=) | |
4 | g.52038258A>C | CA356878728 | SGCB | c.2T>G (p.Met1Arg) | |
4 | g.52038258A>G | CA356878730 | SGCB | c.2T>C (p.Met1Thr) | ClinVar dbSNP gnomAD v4 |
4 | g.52038258A>T | CA356878729 | SGCB | c.2T>A (p.Met1Lys) | gnomAD v4 |
4 | g.52038258_52038259del | CA10604324 | SGCB | c.1_2del (p.Met1GlyfsTer23) c.1_2del (p.Met1GlyfsTer27) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038259T>A | CA356878731 | SGCB | c.1A>T (p.Met1Leu) | ClinVar dbSNP gnomAD v4 |
4 | g.52038259T>C | CA200290 | SGCB | c.1A>G (p.Met1Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038259T>G | CA356878732 | SGCB | c.1A>C (p.Met1Leu) | |
4 | g.52038259T= | CA1457434197 | SGCB | c.1A= (p.Met1=) | |
4 | g.52038260C>A | CA2670614637 | SGCB | c.-1G>T (n.-1G>T) | gnomAD v4 |
4 | g.52038260C>G | CA2670614636 | SGCB | c.-1G>C (n.-1G>C) | gnomAD v4 |
4 | g.52038260C>T | CA2670614635 | SGCB | c.-1G>A (n.-1G>A) | gnomAD v4 |
4 | g.52038261T>C | CA2670614638 | SGCB | c.-2A>G (n.-2A>G) | gnomAD v4 |
4 | g.52038262T>A | CA2670614639 | SGCB | c.-3A>T (n.-3A>T) | gnomAD v4 |
4 | g.52038262T>C | CA1457434199 | SGCB | c.-3A>G (n.-3A>G) | dbSNP gnomAD v4 |
4 | g.52038262T>G | CA1457434200 | SGCB | c.-3A>C (n.-3A>C) | dbSNP |
4 | g.52038262T= | CA1457434198 | SGCB | c.-3A= (n.-3A=) | |
4 | g.52038263C>A | CA645372395 | SGCB | c.-4G>T (n.-4G>T) | ClinVar dbSNP gnomAD v4 |
4 | g.52038263C= | CA1457434201 | SGCB | c.-4G= (n.-4G=) | |
4 | g.52038263C>G | CA2670614641 | SGCB | c.-4G>C (n.-4G>C) | gnomAD v4 |
4 | g.52038263C>T | CA2670614640 | SGCB | c.-4G>A (n.-4G>A) | gnomAD v4 |
4 | g.52038265del | CA2670614643 | SGCB | c.-4del (n.-4del) | gnomAD v4 |
4 | g.52038264_52038265del | CA2670614642 | SGCB | c.-5_-4del (n.-5_-4del) | gnomAD v4 |
4 | g.52038264C>A | CA10621149 | SGCB | c.-5G>T (n.-5G>T) | ClinVar dbSNP gnomAD v4 |
4 | g.52038264C= | CA1457434202 | SGCB | c.-5G= (n.-5G=) | |
4 | g.52038264C>G | CA2670614644 | SGCB | c.-5G>C (n.-5G>C) | gnomAD v4 |
4 | g.52038264C>T | CA2670614645 | SGCB | c.-5G>A (n.-5G>A) | gnomAD v4 |