| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.7582933_7587670delinsAGAACAGTCTT | CA2580075482 | ClinVar | ||
| 6 | g.7582933_7587670delinsAGAGAAGAACAGTCTT | CA915944145 | ClinVar | ||
| 6 | g.7582934_7587655del | CA2695202641 | |||
| 6 | g.7583301_7585800del | CA006686 | DSP | c.4710_7209del (p.Gly1571GlufsTer?) c.6039_8538del (p.Gly2014GlufsTer?) c.4242_6741del (p.Gly1415GlufsTer?) | |
| 6 | g.7585125del | CA913188243 | DSP | c.6534del (p.Ile2179SerfsTer16) c.7863del (p.Ile2622SerfsTer16) c.6066del (p.Ile2023SerfsTer16) | |
| 6 | g.7585125C>A | CA448716822 | DSP | c.6534C>A (p.Ala2178=) c.7863C>A (p.Ala2621=) c.6066C>A (p.Ala2022=) | |
| 6 | g.7585125C>G | CA448716823 | DSP | c.6534C>G (p.Ala2178=) c.7863C>G (p.Ala2621=) c.6066C>G (p.Ala2022=) | |
| 6 | g.7585125C>T | CA448716824 | DSP | c.6534C>T (p.Ala2178=) c.7863C>T (p.Ala2621=) c.6066C>T (p.Ala2022=) | |
| 6 | g.7585126A= | CA1608613358 | DSP | c.6535A= (p.Ile2179=) c.7864A= (p.Ile2622=) c.6067A= (p.Ile2023=) | |
| 6 | g.7585126A>C | CA362693941 | DSP | c.6535A>C (p.Ile2179Leu) c.7864A>C (p.Ile2622Leu) c.6067A>C (p.Ile2023Leu) | |
| 6 | g.7585126A>G | CA007306 | DSP | c.6535A>G (p.Ile2179Val) c.7864A>G (p.Ile2622Val) c.6067A>G (p.Ile2023Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585126A>T | CA362693942 | DSP | c.6535A>T (p.Ile2179Phe) c.7864A>T (p.Ile2622Phe) c.6067A>T (p.Ile2023Phe) | |
| 6 | g.7585127T>A | CA362693943 | DSP | c.6536T>A (p.Ile2179Asn) c.7865T>A (p.Ile2622Asn) c.6068T>A (p.Ile2023Asn) | |
| 6 | g.7585127T>C | CA362693944 | DSP | c.6536T>C (p.Ile2179Thr) c.7865T>C (p.Ile2622Thr) c.6068T>C (p.Ile2023Thr) | |
| 6 | g.7585127T>G | CA362693945 | DSP | c.6536T>G (p.Ile2179Ser) c.7865T>G (p.Ile2622Ser) c.6068T>G (p.Ile2023Ser) | |
| 6 | g.7585128C>A | CA448716827 | DSP | c.6537C>A (p.Ile2179=) c.7866C>A (p.Ile2622=) c.6069C>A (p.Ile2023=) | |
| 6 | g.7585128C>G | CA362693946 | DSP | c.6537C>G (p.Ile2179Met) c.7866C>G (p.Ile2622Met) c.6069C>G (p.Ile2023Met) | |
| 6 | g.7585128C>T | CA448716828 | DSP | c.6537C>T (p.Ile2179=) c.7866C>T (p.Ile2622=) c.6069C>T (p.Ile2023=) | |
| 6 | g.7585129T>A | CA362693947 | DSP | c.6538T>A (p.Phe2180Ile) c.7867T>A (p.Phe2623Ile) c.6070T>A (p.Phe2024Ile) | |
| 6 | g.7585129T>C | CA362693948 | DSP | c.6538T>C (p.Phe2180Leu) c.7867T>C (p.Phe2623Leu) c.6070T>C (p.Phe2024Leu) | |
| 6 | g.7585129T>G | CA362693949 | DSP | c.6538T>G (p.Phe2180Val) c.7867T>G (p.Phe2623Val) c.6070T>G (p.Phe2024Val) | |
| 6 | g.7585130T>A | CA362693950 | DSP | c.6539T>A (p.Phe2180Tyr) c.7868T>A (p.Phe2623Tyr) c.6071T>A (p.Phe2024Tyr) | |
| 6 | g.7585130T>C | CA362693951 | DSP | c.6539T>C (p.Phe2180Ser) c.7868T>C (p.Phe2623Ser) c.6071T>C (p.Phe2024Ser) | gnomAD v4 |
| 6 | g.7585130T>G | CA362693952 | DSP | c.6539T>G (p.Phe2180Cys) c.7868T>G (p.Phe2623Cys) c.6071T>G (p.Phe2024Cys) | ClinVar |
| 6 | g.7585131T>A | CA362693953 | DSP | c.6540T>A (p.Phe2180Leu) c.7869T>A (p.Phe2623Leu) c.6072T>A (p.Phe2024Leu) | |
| 6 | g.7585131T>C | CA448716834 | DSP | c.6540T>C (p.Phe2180=) c.7869T>C (p.Phe2623=) c.6072T>C (p.Phe2024=) | |
| 6 | g.7585131T>G | CA362693954 | DSP | c.6540T>G (p.Phe2180Leu) c.7869T>G (p.Phe2623Leu) c.6072T>G (p.Phe2024Leu) | |
| 6 | g.7585131_7585132insA | CA2695206017 | DSP | c.6540_6541insA (p.Asp2181ArgfsTer20) c.7869_7870insA (p.Asp2624ArgfsTer20) c.6072_6073insA (p.Asp2025ArgfsTer20) | |
| 6 | g.7585132G>A | CA133976737 | DSP | c.6541G>A (p.Asp2181Asn) c.7870G>A (p.Asp2624Asn) c.6073G>A (p.Asp2025Asn) | dbSNP gnomAD v4 COSMIC |
| 6 | g.7585132G>C | CA362693955 | DSP | c.6541G>C (p.Asp2181His) c.7870G>C (p.Asp2624His) c.6073G>C (p.Asp2025His) | |
| 6 | g.7585132G= | CA1608613363 | DSP | c.6541G= (p.Asp2181=) c.7870G= (p.Asp2624=) c.6073G= (p.Asp2025=) | |
| 6 | g.7585132G>T | CA362693956 | DSP | c.6541G>T (p.Asp2181Tyr) c.7870G>T (p.Asp2624Tyr) c.6073G>T (p.Asp2025Tyr) | |
| 6 | g.7585132_7585134delinsGAC | CA1608613364 | DSP | c.6541_6543delinsGAC (p.Asp2181=) c.7870_7872delinsGAC (p.Asp2624=) c.6073_6075delinsGAC (p.Asp2025=) | |
| 6 | g.7585133A= | CA1608613371 | DSP | c.6542A= (p.Asp2181=) c.7871A= (p.Asp2624=) c.6074A= (p.Asp2025=) | |
| 6 | g.7585133A>C | CA362693957 | DSP | c.6542A>C (p.Asp2181Ala) c.7871A>C (p.Asp2624Ala) c.6074A>C (p.Asp2025Ala) | |
| 6 | g.7585133A>G | CA362693958 | DSP | c.6542A>G (p.Asp2181Gly) c.7871A>G (p.Asp2624Gly) c.6074A>G (p.Asp2025Gly) | ClinVar dbSNP |
| 6 | g.7585133A>T | CA362693959 | DSP | c.6542A>T (p.Asp2181Val) c.7871A>T (p.Asp2624Val) c.6074A>T (p.Asp2025Val) | dbSNP |
| 6 | g.7585136_7585137del | CA891843183 | DSP | c.6545_6546del (p.Thr2182ArgfsTer18) c.7874_7875del (p.Thr2625ArgfsTer18) c.6077_6078del (p.Thr2026ArgfsTer18) | ClinVar dbSNP |
| 6 | g.7585134C>A | CA362693960 | DSP | c.6543C>A (p.Asp2181Glu) c.7872C>A (p.Asp2624Glu) c.6075C>A (p.Asp2025Glu) | |
| 6 | g.7585134C= | CA1608613390 | DSP | c.6543C= (p.Asp2181=) c.7872C= (p.Asp2624=) c.6075C= (p.Asp2025=) | |
| 6 | g.7585134C>G | CA362693961 | DSP | c.6543C>G (p.Asp2181Glu) c.7872C>G (p.Asp2624Glu) c.6075C>G (p.Asp2025Glu) | |
| 6 | g.7585134C>T | CA133976747 | DSP | c.6543C>T (p.Asp2181=) c.7872C>T (p.Asp2624=) c.6075C>T (p.Asp2025=) | ClinVar dbSNP |
| 6 | g.7585135A= | CA1608613403 | DSP | c.6544A= (p.Thr2182=) c.7873A= (p.Thr2625=) c.6076A= (p.Thr2026=) | |
| 6 | g.7585135A>C | CA362693962 | DSP | c.6544A>C (p.Thr2182Pro) c.7873A>C (p.Thr2625Pro) c.6076A>C (p.Thr2026Pro) | dbSNP |
| 6 | g.7585135A>G | CA362693963 | DSP | c.6544A>G (p.Thr2182Ala) c.7873A>G (p.Thr2625Ala) c.6076A>G (p.Thr2026Ala) | |
| 6 | g.7585135A>T | CA362693964 | DSP | c.6544A>T (p.Thr2182Ser) c.7873A>T (p.Thr2625Ser) c.6076A>T (p.Thr2026Ser) | |
| 6 | g.7585135dup | CA303946 | DSP | c.6544dup (p.Thr2182AsnfsTer19) c.7873dup (p.Thr2625AsnfsTer19) c.6076dup (p.Thr2026AsnfsTer19) | ClinVar dbSNP |
| 6 | g.7585136C>A | CA362693967 | DSP | c.6545C>A (p.Thr2182Lys) c.7874C>A (p.Thr2625Lys) c.6077C>A (p.Thr2026Lys) | |
| 6 | g.7585136C>G | CA362693966 | DSP | c.6545C>G (p.Thr2182Arg) c.7874C>G (p.Thr2625Arg) c.6077C>G (p.Thr2026Arg) | |
| 6 | g.7585136C>T | CA362693965 | DSP | c.6545C>T (p.Thr2182Ile) c.7874C>T (p.Thr2625Ile) c.6077C>T (p.Thr2026Ile) | |
| 6 | g.7585137A= | CA1608613410 | DSP | c.6546A= (p.Thr2182=) c.7875A= (p.Thr2625=) c.6078A= (p.Thr2026=) | |
| 6 | g.7585137A>C | CA448716842 | DSP | c.6546A>C (p.Thr2182=) c.7875A>C (p.Thr2625=) c.6078A>C (p.Thr2026=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585137A>G | CA051040 | DSP | c.6546A>G (p.Thr2182=) c.7875A>G (p.Thr2625=) c.6078A>G (p.Thr2026=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585137A>T | CA448716844 | DSP | c.6546A>T (p.Thr2182=) c.7875A>T (p.Thr2625=) c.6078A>T (p.Thr2026=) | |
| 6 | g.7585138_7585139del | CA2580075387 | DSP | c.6547_6548del (p.Glu2183LysfsTer17) c.7876_7877del (p.Glu2626LysfsTer17) c.6079_6080del (p.Glu2027LysfsTer17) | ClinVar |
| 6 | g.7585138G>A | CA362693968 | DSP | c.6547G>A (p.Glu2183Lys) c.7876G>A (p.Glu2626Lys) c.6079G>A (p.Glu2027Lys) | |
| 6 | g.7585138G>C | CA051049 | DSP | c.6547G>C (p.Glu2183Gln) c.7876G>C (p.Glu2626Gln) c.6079G>C (p.Glu2027Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585138G= | CA1608613414 | DSP | c.6547G= (p.Glu2183=) c.7876G= (p.Glu2626=) c.6079G= (p.Glu2027=) | |
| 6 | g.7585138G>T | CA362693969 | DSP | c.6547G>T (p.Glu2183Ter) c.7876G>T (p.Glu2626Ter) c.6079G>T (p.Glu2027Ter) | |
| 6 | g.7585139A>C | CA362693970 | DSP | c.6548A>C (p.Glu2183Ala) c.7877A>C (p.Glu2626Ala) c.6080A>C (p.Glu2027Ala) | |
| 6 | g.7585139A>G | CA362693971 | DSP | c.6548A>G (p.Glu2183Gly) c.7877A>G (p.Glu2626Gly) c.6080A>G (p.Glu2027Gly) | |
| 6 | g.7585139A>T | CA362693972 | DSP | c.6548A>T (p.Glu2183Val) c.7877A>T (p.Glu2626Val) c.6080A>T (p.Glu2027Val) | |
| 6 | g.7585140A>C | CA362693973 | DSP | c.6549A>C (p.Glu2183Asp) c.7878A>C (p.Glu2626Asp) c.6081A>C (p.Glu2027Asp) | |
| 6 | g.7585140A>G | CA448716847 | DSP | c.6549A>G (p.Glu2183=) c.7878A>G (p.Glu2626=) c.6081A>G (p.Glu2027=) | |
| 6 | g.7585140A>T | CA362693974 | DSP | c.6549A>T (p.Glu2183Asp) c.7878A>T (p.Glu2626Asp) c.6081A>T (p.Glu2027Asp) | |
| 6 | g.7585141A>C | CA362693975 | DSP | c.6550A>C (p.Asn2184His) c.7879A>C (p.Asn2627His) c.6082A>C (p.Asn2028His) | |
| 6 | g.7585141A>G | CA362693976 | DSP | c.6550A>G (p.Asn2184Asp) c.7879A>G (p.Asn2627Asp) c.6082A>G (p.Asn2028Asp) | |
| 6 | g.7585141A>T | CA362693977 | DSP | c.6550A>T (p.Asn2184Tyr) c.7879A>T (p.Asn2627Tyr) c.6082A>T (p.Asn2028Tyr) | |
| 6 | g.7585141_7585142insCCAAACACACCCAACAC | CA2769903931 | DSP | c.6550_6551insCCAAACACACCCAACAC (p.Asn2184ThrfsTer17) c.7879_7880insCCAAACACACCCAACAC (p.Asn2627ThrfsTer17) c.6082_6083insCCAAACACACCCAACAC (p.Asn2028ThrfsTer17) | |
| 6 | g.7585142A>C | CA362693980 | DSP | c.6551A>C (p.Asn2184Thr) c.7880A>C (p.Asn2627Thr) c.6083A>C (p.Asn2028Thr) | |
| 6 | g.7585142A>G | CA362693979 | DSP | c.6551A>G (p.Asn2184Ser) c.7880A>G (p.Asn2627Ser) c.6083A>G (p.Asn2028Ser) | |
| 6 | g.7585142A>T | CA362693978 | DSP | c.6551A>T (p.Asn2184Ile) c.7880A>T (p.Asn2627Ile) c.6083A>T (p.Asn2028Ile) | |
| 6 | g.7585143C>A | CA362693981 | DSP | c.6552C>A (p.Asn2184Lys) c.7881C>A (p.Asn2627Lys) c.6084C>A (p.Asn2028Lys) | |
| 6 | g.7585143C>G | CA362693982 | DSP | c.6552C>G (p.Asn2184Lys) c.7881C>G (p.Asn2627Lys) c.6084C>G (p.Asn2028Lys) | |
| 6 | g.7585143C>T | CA448716857 | DSP | c.6552C>T (p.Asn2184=) c.7881C>T (p.Asn2627=) c.6084C>T (p.Asn2028=) | |
| 6 | g.7585144C>A | CA362693983 | DSP | c.6553C>A (p.Leu2185Met) c.7882C>A (p.Leu2628Met) c.6085C>A (p.Leu2029Met) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585144C= | CA1608613420 | DSP | c.6553C= (p.Leu2185=) c.7882C= (p.Leu2628=) c.6085C= (p.Leu2029=) | |
| 6 | g.7585144C>G | CA362693984 | DSP | c.6553C>G (p.Leu2185Val) c.7882C>G (p.Leu2628Val) c.6085C>G (p.Leu2029Val) | |
| 6 | g.7585144C>T | CA448716859 | DSP | c.6553C>T (p.Leu2185=) c.7882C>T (p.Leu2628=) c.6085C>T (p.Leu2029=) | gnomAD v4 |
| 6 | g.7585145T>A | CA362693985 | DSP | c.6554T>A (p.Leu2185Gln) c.7883T>A (p.Leu2628Gln) c.6086T>A (p.Leu2029Gln) | |
| 6 | g.7585145T>C | CA051060 | DSP | c.6554T>C (p.Leu2185Pro) c.7883T>C (p.Leu2628Pro) c.6086T>C (p.Leu2029Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585145T>G | CA362693986 | DSP | c.6554T>G (p.Leu2185Arg) c.7883T>G (p.Leu2628Arg) c.6086T>G (p.Leu2029Arg) | |
| 6 | g.7585145T= | CA1608613429 | DSP | c.6554T= (p.Leu2185=) c.7883T= (p.Leu2628=) c.6086T= (p.Leu2029=) | |
| 6 | g.7585146G>A | CA448716863 | DSP | c.6555G>A (p.Leu2185=) c.7884G>A (p.Leu2628=) c.6087G>A (p.Leu2029=) | dbSNP gnomAD v4 |
| 6 | g.7585146G>C | CA448716864 | DSP | c.6555G>C (p.Leu2185=) c.7884G>C (p.Leu2628=) c.6087G>C (p.Leu2029=) | |
| 6 | g.7585146G>T | CA448716865 | DSP | c.6555G>T (p.Leu2185=) c.7884G>T (p.Leu2628=) c.6087G>T (p.Leu2029=) | |
| 6 | g.7585147G>A | CA051071 | DSP | c.6556G>A (p.Glu2186Lys) c.7885G>A (p.Glu2629Lys) c.6088G>A (p.Glu2030Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585147G>C | CA362693987 | DSP | c.6556G>C (p.Glu2186Gln) c.7885G>C (p.Glu2629Gln) c.6088G>C (p.Glu2030Gln) | gnomAD v4 |
| 6 | g.7585147G= | CA1608613433 | DSP | c.6556G= (p.Glu2186=) c.7885G= (p.Glu2629=) c.6088G= (p.Glu2030=) | |
| 6 | g.7585147G>T | CA362693988 | DSP | c.6556G>T (p.Glu2186Ter) c.7885G>T (p.Glu2629Ter) c.6088G>T (p.Glu2030Ter) | |
| 6 | g.7585148A>C | CA362693989 | DSP | c.6557A>C (p.Glu2186Ala) c.7886A>C (p.Glu2629Ala) c.6089A>C (p.Glu2030Ala) | |
| 6 | g.7585148A>G | CA362693990 | DSP | c.6557A>G (p.Glu2186Gly) c.7886A>G (p.Glu2629Gly) c.6089A>G (p.Glu2030Gly) | ClinVar |
| 6 | g.7585148A>T | CA362693991 | DSP | c.6557A>T (p.Glu2186Val) c.7886A>T (p.Glu2629Val) c.6089A>T (p.Glu2030Val) | |
| 6 | g.7585149G>A | CA448716870 | DSP | c.6558G>A (p.Glu2186=) c.7887G>A (p.Glu2629=) c.6090G>A (p.Glu2030=) | COSMIC |
| 6 | g.7585149G>C | CA362693992 | DSP | c.6558G>C (p.Glu2186Asp) c.7887G>C (p.Glu2629Asp) c.6090G>C (p.Glu2030Asp) | |
| 6 | g.7585149G>T | CA362693993 | DSP | c.6558G>T (p.Glu2186Asp) c.7887G>T (p.Glu2629Asp) c.6090G>T (p.Glu2030Asp) | |
| 6 | g.7585150A>C | CA362693994 | DSP | c.6559A>C (p.Lys2187Gln) c.7888A>C (p.Lys2630Gln) c.6091A>C (p.Lys2031Gln) | |
| 6 | g.7585150A>G | CA362693996 | DSP | c.6559A>G (p.Lys2187Glu) c.7888A>G (p.Lys2630Glu) c.6091A>G (p.Lys2031Glu) | |
| 6 | g.7585150A>T | CA362693995 | DSP | c.6559A>T (p.Lys2187Ter) c.7888A>T (p.Lys2630Ter) c.6091A>T (p.Lys2031Ter) | |
| 6 | g.7585153dup | CA2677220959 | DSP | c.6562dup (p.Ile2188AsnfsTer13) c.7891dup (p.Ile2631AsnfsTer13) c.6094dup (p.Ile2032AsnfsTer13) | gnomAD v4 |
| 6 | g.7585151A>C | CA362693997 | DSP | c.6560A>C (p.Lys2187Thr) c.7889A>C (p.Lys2630Thr) c.6092A>C (p.Lys2031Thr) | |
| 6 | g.7585151A>G | CA362693998 | DSP | c.6560A>G (p.Lys2187Arg) c.7889A>G (p.Lys2630Arg) c.6092A>G (p.Lys2031Arg) | |
| 6 | g.7585151A>T | CA362693999 | DSP | c.6560A>T (p.Lys2187Ile) c.7889A>T (p.Lys2630Ile) c.6092A>T (p.Lys2031Ile) | |
| 6 | g.7585152A>C | CA362694000 | DSP | c.6561A>C (p.Lys2187Asn) c.7890A>C (p.Lys2630Asn) c.6093A>C (p.Lys2031Asn) | |
| 6 | g.7585152A>G | CA448716874 | DSP | c.6561A>G (p.Lys2187=) c.7890A>G (p.Lys2630=) c.6093A>G (p.Lys2031=) | |
| 6 | g.7585152A>T | CA362694001 | DSP | c.6561A>T (p.Lys2187Asn) c.7890A>T (p.Lys2630Asn) c.6093A>T (p.Lys2031Asn) | |
| 6 | g.7585153A= | CA1608613441 | DSP | c.6562A= (p.Ile2188=) c.7891A= (p.Ile2631=) c.6094A= (p.Ile2032=) | |
| 6 | g.7585153A>C | CA362694002 | DSP | c.6562A>C (p.Ile2188Leu) c.7891A>C (p.Ile2631Leu) c.6094A>C (p.Ile2032Leu) | |
| 6 | g.7585153A>G | CA362694003 | DSP | c.6562A>G (p.Ile2188Val) c.7891A>G (p.Ile2631Val) c.6094A>G (p.Ile2032Val) | ClinVar dbSNP |
| 6 | g.7585153A>T | CA362694004 | DSP | c.6562A>T (p.Ile2188Phe) c.7891A>T (p.Ile2631Phe) c.6094A>T (p.Ile2032Phe) | |
| 6 | g.7585154T>A | CA362694005 | DSP | c.6563T>A (p.Ile2188Asn) c.7892T>A (p.Ile2631Asn) c.6095T>A (p.Ile2032Asn) | |
| 6 | g.7585154T>C | CA362694006 | DSP | c.6563T>C (p.Ile2188Thr) c.7892T>C (p.Ile2631Thr) c.6095T>C (p.Ile2032Thr) | |
| 6 | g.7585154T>G | CA362694007 | DSP | c.6563T>G (p.Ile2188Ser) c.7892T>G (p.Ile2631Ser) c.6095T>G (p.Ile2032Ser) | |
| 6 | g.7585155C>A | CA448716878 | DSP | c.6564C>A (p.Ile2188=) c.7893C>A (p.Ile2631=) c.6096C>A (p.Ile2032=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585155C= | CA1608613450 | DSP | c.6564C= (p.Ile2188=) c.7893C= (p.Ile2631=) c.6096C= (p.Ile2032=) | |
| 6 | g.7585155C>G | CA362694008 | DSP | c.6564C>G (p.Ile2188Met) c.7893C>G (p.Ile2631Met) c.6096C>G (p.Ile2032Met) | |
| 6 | g.7585155C>T | CA051080 | DSP | c.6564C>T (p.Ile2188=) c.7893C>T (p.Ile2631=) c.6096C>T (p.Ile2032=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585156T>A | CA362694009 | DSP | c.6565T>A (p.Ser2189Thr) c.7894T>A (p.Ser2632Thr) c.6097T>A (p.Ser2033Thr) | |
| 6 | g.7585156T>C | CA362694011 | DSP | c.6565T>C (p.Ser2189Pro) c.7894T>C (p.Ser2632Pro) c.6097T>C (p.Ser2033Pro) | ClinVar |
| 6 | g.7585156T>G | CA362694010 | DSP | c.6565T>G (p.Ser2189Ala) c.7894T>G (p.Ser2632Ala) c.6097T>G (p.Ser2033Ala) | |
| 6 | g.7585157C>A | CA362694012 | DSP | c.6566C>A (p.Ser2189Tyr) c.7895C>A (p.Ser2632Tyr) c.6098C>A (p.Ser2033Tyr) | dbSNP |
| 6 | g.7585157C= | CA1608613460 | DSP | c.6566C= (p.Ser2189=) c.7895C= (p.Ser2632=) c.6098C= (p.Ser2033=) | |
| 6 | g.7585157C>G | CA362694013 | DSP | c.6566C>G (p.Ser2189Cys) c.7895C>G (p.Ser2632Cys) c.6098C>G (p.Ser2033Cys) | |
| 6 | g.7585157C>T | CA362694014 | DSP | c.6566C>T (p.Ser2189Phe) c.7895C>T (p.Ser2632Phe) c.6098C>T (p.Ser2033Phe) | |
| 6 | g.7585158C>A | CA448716881 | DSP | c.6567C>A (p.Ser2189=) c.7896C>A (p.Ser2632=) c.6099C>A (p.Ser2033=) | |
| 6 | g.7585158C>G | CA448716882 | DSP | c.6567C>G (p.Ser2189=) c.7896C>G (p.Ser2632=) c.6099C>G (p.Ser2033=) | |
| 6 | g.7585158C>T | CA448716884 | DSP | c.6567C>T (p.Ser2189=) c.7896C>T (p.Ser2632=) c.6099C>T (p.Ser2033=) | COSMIC |
| 6 | g.7585159A= | CA1608613461 | DSP | c.6568A= (p.Ile2190=) c.7897A= (p.Ile2633=) c.6100A= (p.Ile2034=) | |
| 6 | g.7585159A>C | CA362694015 | DSP | c.6568A>C (p.Ile2190Leu) c.7897A>C (p.Ile2633Leu) c.6100A>C (p.Ile2034Leu) | |
| 6 | g.7585159A>G | CA362694016 | DSP | c.6568A>G (p.Ile2190Val) c.7897A>G (p.Ile2633Val) c.6100A>G (p.Ile2034Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7585159A>T | CA362694017 | DSP | c.6568A>T (p.Ile2190Phe) c.7897A>T (p.Ile2633Phe) c.6100A>T (p.Ile2034Phe) | |
| 6 | g.7585160T>A | CA362694018 | DSP | c.6569T>A (p.Ile2190Asn) c.7898T>A (p.Ile2633Asn) c.6101T>A (p.Ile2034Asn) | |
| 6 | g.7585160T>C | CA362694019 | DSP | c.6569T>C (p.Ile2190Thr) c.7898T>C (p.Ile2633Thr) c.6101T>C (p.Ile2034Thr) | |
| 6 | g.7585160T>G | CA362694020 | DSP | c.6569T>G (p.Ile2190Ser) c.7898T>G (p.Ile2633Ser) c.6101T>G (p.Ile2034Ser) | |
| 6 | g.7585161dup | CA645369437 | DSP | c.6570dup (p.Thr2191TyrfsTer10) c.7899dup (p.Thr2634TyrfsTer10) c.6102dup (p.Thr2035TyrfsTer10) | ClinVar dbSNP |
| 6 | g.7585161T>A | CA448716890 | DSP | c.6570T>A (p.Ile2190=) c.7899T>A (p.Ile2633=) c.6102T>A (p.Ile2034=) | |
| 6 | g.7585161T>C | CA448716888 | DSP | c.6570T>C (p.Ile2190=) c.7899T>C (p.Ile2633=) c.6102T>C (p.Ile2034=) | |
| 6 | g.7585161T>G | CA362694021 | DSP | c.6570T>G (p.Ile2190Met) c.7899T>G (p.Ile2633Met) c.6102T>G (p.Ile2034Met) | |
| 6 | g.7585162A= | CA1608613473 | DSP | c.6571A= (p.Thr2191=) c.7900A= (p.Thr2634=) c.6103A= (p.Thr2035=) | |
| 6 | g.7585162A>C | CA362694023 | DSP | c.6571A>C (p.Thr2191Pro) c.7900A>C (p.Thr2634Pro) c.6103A>C (p.Thr2035Pro) | |
| 6 | g.7585162A>G | CA133976775 | DSP | c.6571A>G (p.Thr2191Ala) c.7900A>G (p.Thr2634Ala) c.6103A>G (p.Thr2035Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585162A>T | CA362694022 | DSP | c.6571A>T (p.Thr2191Ser) c.7900A>T (p.Thr2634Ser) c.6103A>T (p.Thr2035Ser) | |
| 6 | g.7585163C>A | CA362694024 | DSP | c.6572C>A (p.Thr2191Lys) c.7901C>A (p.Thr2634Lys) c.6104C>A (p.Thr2035Lys) | |
| 6 | g.7585163C>G | CA362694025 | DSP | c.6572C>G (p.Thr2191Arg) c.7901C>G (p.Thr2634Arg) c.6104C>G (p.Thr2035Arg) | |
| 6 | g.7585163C>T | CA362694026 | DSP | c.6572C>T (p.Thr2191Ile) c.7901C>T (p.Thr2634Ile) c.6104C>T (p.Thr2035Ile) | gnomAD v4 |
| 6 | g.7585164A= | CA1608613479 | DSP | c.6573A= (p.Thr2191=) c.7902A= (p.Thr2634=) c.6105A= (p.Thr2035=) | |
| 6 | g.7585164A>C | CA448716896 | DSP | c.6573A>C (p.Thr2191=) c.7902A>C (p.Thr2634=) c.6105A>C (p.Thr2035=) | ClinVar |
| 6 | g.7585164A>G | CA051131 | DSP | c.6573A>G (p.Thr2191=) c.7902A>G (p.Thr2634=) c.6105A>G (p.Thr2035=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585164A>T | CA448716893 | DSP | c.6573A>T (p.Thr2191=) c.7902A>T (p.Thr2634=) c.6105A>T (p.Thr2035=) | ClinVar |
| 6 | g.7585165G>A | CA362694027 | DSP | c.6574G>A (p.Glu2192Lys) c.7903G>A (p.Glu2635Lys) c.6106G>A (p.Glu2036Lys) | |
| 6 | g.7585165G>C | CA362694028 | DSP | c.6574G>C (p.Glu2192Gln) c.7903G>C (p.Glu2635Gln) c.6106G>C (p.Glu2036Gln) | |
| 6 | g.7585165G>T | CA362694029 | DSP | c.6574G>T (p.Glu2192Ter) c.7903G>T (p.Glu2635Ter) c.6106G>T (p.Glu2036Ter) | |
| 6 | g.7585166A>C | CA362694030 | DSP | c.6575A>C (p.Glu2192Ala) c.7904A>C (p.Glu2635Ala) c.6107A>C (p.Glu2036Ala) | |
| 6 | g.7585166A>G | CA362694031 | DSP | c.6575A>G (p.Glu2192Gly) c.7904A>G (p.Glu2635Gly) c.6107A>G (p.Glu2036Gly) | |
| 6 | g.7585166A>T | CA362694032 | DSP | c.6575A>T (p.Glu2192Val) c.7904A>T (p.Glu2635Val) c.6107A>T (p.Glu2036Val) | |
| 6 | g.7585167A>C | CA362694033 | DSP | c.6576A>C (p.Glu2192Asp) c.7905A>C (p.Glu2635Asp) c.6108A>C (p.Glu2036Asp) | |
| 6 | g.7585167A>G | CA448716900 | DSP | c.6576A>G (p.Glu2192=) c.7905A>G (p.Glu2635=) c.6108A>G (p.Glu2036=) | |
| 6 | g.7585167A>T | CA362694034 | DSP | c.6576A>T (p.Glu2192Asp) c.7905A>T (p.Glu2635Asp) c.6108A>T (p.Glu2036Asp) | |
| 6 | g.7585168G>A | CA362694037 | DSP | c.6577G>A (p.Gly2193Ser) c.7906G>A (p.Gly2636Ser) c.6109G>A (p.Gly2037Ser) | gnomAD v4 |
| 6 | g.7585168G>C | CA362694036 | DSP | c.6577G>C (p.Gly2193Arg) c.7906G>C (p.Gly2636Arg) c.6109G>C (p.Gly2037Arg) | COSMIC |
| 6 | g.7585168G= | CA1608613482 | DSP | c.6577G= (p.Gly2193=) c.7906G= (p.Gly2636=) c.6109G= (p.Gly2037=) | |
| 6 | g.7585168G>T | CA362694035 | DSP | c.6577G>T (p.Gly2193Cys) c.7906G>T (p.Gly2636Cys) c.6109G>T (p.Gly2037Cys) | ClinVar dbSNP gnomAD v2 |
| 6 | g.7585169G>A | CA362694038 | DSP | c.6578G>A (p.Gly2193Asp) c.7907G>A (p.Gly2636Asp) c.6110G>A (p.Gly2037Asp) | ClinVar dbSNP |
| 6 | g.7585169G>C | CA362694039 | DSP | c.6578G>C (p.Gly2193Ala) c.7907G>C (p.Gly2636Ala) c.6110G>C (p.Gly2037Ala) | |
| 6 | g.7585169G= | CA1608613487 | DSP | c.6578G= (p.Gly2193=) c.7907G= (p.Gly2636=) c.6110G= (p.Gly2037=) | |
| 6 | g.7585169G>T | CA362694040 | DSP | c.6578G>T (p.Gly2193Val) c.7907G>T (p.Gly2636Val) c.6110G>T (p.Gly2037Val) | |
| 6 | g.7585170T>A | CA448716901 | DSP | c.6579T>A (p.Gly2193=) c.7908T>A (p.Gly2636=) c.6111T>A (p.Gly2037=) | |
| 6 | g.7585170T>C | CA448716904 | DSP | c.6579T>C (p.Gly2193=) c.7908T>C (p.Gly2636=) c.6111T>C (p.Gly2037=) | gnomAD v4 |
| 6 | g.7585170T>G | CA448716905 | DSP | c.6579T>G (p.Gly2193=) c.7908T>G (p.Gly2636=) c.6111T>G (p.Gly2037=) | |
| 6 | g.7585171A= | CA1608613494 | DSP | c.6580A= (p.Ile2194=) c.7909A= (p.Ile2637=) c.6112A= (p.Ile2038=) | |
| 6 | g.7585171A>C | CA362694041 | DSP | c.6580A>C (p.Ile2194Leu) c.7909A>C (p.Ile2637Leu) c.6112A>C (p.Ile2038Leu) | |
| 6 | g.7585171A>G | CA362694042 | DSP | c.6580A>G (p.Ile2194Val) c.7909A>G (p.Ile2637Val) c.6112A>G (p.Ile2038Val) | ClinVar dbSNP |
| 6 | g.7585171A>T | CA362694043 | DSP | c.6580A>T (p.Ile2194Leu) c.7909A>T (p.Ile2637Leu) c.6112A>T (p.Ile2038Leu) | |
| 6 | g.7585172T>A | CA362694044 | DSP | c.6581T>A (p.Ile2194Lys) c.7910T>A (p.Ile2637Lys) c.6113T>A (p.Ile2038Lys) | |
| 6 | g.7585172T>C | CA362694045 | DSP | c.6581T>C (p.Ile2194Thr) c.7910T>C (p.Ile2637Thr) c.6113T>C (p.Ile2038Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585172T>G | CA362694046 | DSP | c.6581T>G (p.Ile2194Arg) c.7910T>G (p.Ile2637Arg) c.6113T>G (p.Ile2038Arg) | |
| 6 | g.7585172T= | CA1608613497 | DSP | c.6581T= (p.Ile2194=) c.7910T= (p.Ile2637=) c.6113T= (p.Ile2038=) | |
| 6 | g.7585172dup | CA1608613496 | DSP | c.6581dup (p.Glu2195ArgfsTer6) c.7910dup (p.Glu2638ArgfsTer6) c.6113dup (p.Glu2039ArgfsTer6) | dbSNP gnomAD v4 |
| 6 | g.7585173A>C | CA448716910 | DSP | c.6582A>C (p.Ile2194=) c.7911A>C (p.Ile2637=) c.6114A>C (p.Ile2038=) | |
| 6 | g.7585173A>G | CA362694047 | DSP | c.6582A>G (p.Ile2194Met) c.7911A>G (p.Ile2637Met) c.6114A>G (p.Ile2038Met) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585173A>T | CA448716911 | DSP | c.6582A>T (p.Ile2194=) c.7911A>T (p.Ile2637=) c.6114A>T (p.Ile2038=) | |
| 6 | g.7585174G>A | CA362694048 | DSP | c.6583G>A (p.Glu2195Lys) c.7912G>A (p.Glu2638Lys) c.6115G>A (p.Glu2039Lys) | gnomAD v4 |
| 6 | g.7585174G>C | CA362694049 | DSP | c.6583G>C (p.Glu2195Gln) c.7912G>C (p.Glu2638Gln) c.6115G>C (p.Glu2039Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585174G= | CA1608613524 | DSP | c.6583G= (p.Glu2195=) c.7912G= (p.Glu2638=) c.6115G= (p.Glu2039=) | |
| 6 | g.7585174G>T | CA362694050 | DSP | c.6583G>T (p.Glu2195Ter) c.7912G>T (p.Glu2638Ter) c.6115G>T (p.Glu2039Ter) | |
| 6 | g.7585175A>C | CA362694052 | DSP | c.6584A>C (p.Glu2195Ala) c.7913A>C (p.Glu2638Ala) c.6116A>C (p.Glu2039Ala) | |
| 6 | g.7585175A>G | CA362694053 | DSP | c.6584A>G (p.Glu2195Gly) c.7913A>G (p.Glu2638Gly) c.6116A>G (p.Glu2039Gly) | |
| 6 | g.7585175A>T | CA362694051 | DSP | c.6584A>T (p.Glu2195Val) c.7913A>T (p.Glu2638Val) c.6116A>T (p.Glu2039Val) | |
| 6 | g.7585176G>A | CA448716923 | DSP | c.6585G>A (p.Glu2195=) c.7914G>A (p.Glu2638=) c.6117G>A (p.Glu2039=) | |
| 6 | g.7585176G>C | CA362694054 | DSP | c.6585G>C (p.Glu2195Asp) c.7914G>C (p.Glu2638Asp) c.6117G>C (p.Glu2039Asp) | |
| 6 | g.7585176G>T | CA362694055 | DSP | c.6585G>T (p.Glu2195Asp) c.7914G>T (p.Glu2638Asp) c.6117G>T (p.Glu2039Asp) | gnomAD v4 |
| 6 | g.7585177C>A | CA448716924 | DSP | c.6586C>A (p.Arg2196=) c.7915C>A (p.Arg2639=) c.6118C>A (p.Arg2040=) | ClinVar dbSNP |
| 6 | g.7585177C= | CA1608613536 | DSP | c.6586C= (p.Arg2196=) c.7915C= (p.Arg2639=) c.6118C= (p.Arg2040=) | |
| 6 | g.7585177C>G | CA362694056 | DSP | c.6586C>G (p.Arg2196Gly) c.7915C>G (p.Arg2639Gly) c.6118C>G (p.Arg2040Gly) | ClinVar |
| 6 | g.7585177C>T | CA051144 | DSP | c.6586C>T (p.Arg2196Trp) c.7915C>T (p.Arg2639Trp) c.6118C>T (p.Arg2040Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7585178G>A | CA007320 | DSP | c.6587G>A (p.Arg2196Gln) c.7916G>A (p.Arg2639Gln) c.6119G>A (p.Arg2040Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585178G>C | CA362694057 | DSP | c.6587G>C (p.Arg2196Pro) c.7916G>C (p.Arg2639Pro) c.6119G>C (p.Arg2040Pro) | dbSNP |
| 6 | g.7585178G= | CA1608613544 | DSP | c.6587G= (p.Arg2196=) c.7916G= (p.Arg2639=) c.6119G= (p.Arg2040=) | |
| 6 | g.7585178G>T | CA362694058 | DSP | c.6587G>T (p.Arg2196Leu) c.7916G>T (p.Arg2639Leu) c.6119G>T (p.Arg2040Leu) | gnomAD v4 |
| 6 | g.7585180_7585181dup | CA1139659425 | DSP | c.6589_6590dup (p.Ile2198AlafsTer?) c.7918_7919dup (p.Ile2641AlafsTer?) c.6121_6122dup (p.Ile2042AlafsTer?) | ClinVar dbSNP |
| 6 | g.7585179G>A | CA448716927 | DSP | c.6588G>A (p.Arg2196=) c.7917G>A (p.Arg2639=) c.6120G>A (p.Arg2040=) | dbSNP |
| 6 | g.7585179G>C | CA448716929 | DSP | c.6588G>C (p.Arg2196=) c.7917G>C (p.Arg2639=) c.6120G>C (p.Arg2040=) | gnomAD v4 |
| 6 | g.7585179G>T | CA448716930 | DSP | c.6588G>T (p.Arg2196=) c.7917G>T (p.Arg2639=) c.6120G>T (p.Arg2040=) | |
| 6 | g.7585180G>A | CA362694059 | DSP | c.6589G>A (p.Gly2197Ser) c.7918G>A (p.Gly2640Ser) c.6121G>A (p.Gly2041Ser) | |
| 6 | g.7585180G>C | CA133976797 | DSP | c.6589G>C (p.Gly2197Arg) c.7918G>C (p.Gly2640Arg) c.6121G>C (p.Gly2041Arg) | dbSNP |
| 6 | g.7585180G= | CA1608613553 | DSP | c.6589G= (p.Gly2197=) c.7918G= (p.Gly2640=) c.6121G= (p.Gly2041=) | |
| 6 | g.7585180G>T | CA051161 | DSP | c.6589G>T (p.Gly2197Cys) c.7918G>T (p.Gly2640Cys) c.6121G>T (p.Gly2041Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585181G>A | CA362694060 | DSP | c.6590G>A (p.Gly2197Asp) c.7919G>A (p.Gly2640Asp) c.6122G>A (p.Gly2041Asp) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585181G>C | CA362694061 | DSP | c.6590G>C (p.Gly2197Ala) c.7919G>C (p.Gly2640Ala) c.6122G>C (p.Gly2041Ala) | |
| 6 | g.7585181G= | CA1608613559 | DSP | c.6590G= (p.Gly2197=) c.7919G= (p.Gly2640=) c.6122G= (p.Gly2041=) | |
| 6 | g.7585181G>T | CA362694062 | DSP | c.6590G>T (p.Gly2197Val) c.7919G>T (p.Gly2640Val) c.6122G>T (p.Gly2041Val) | |
| 6 | g.7585182C>A | CA448716935 | DSP | c.6591C>A (p.Gly2197=) c.7920C>A (p.Gly2640=) c.6123C>A (p.Gly2041=) | |
| 6 | g.7585182C= | CA1608613562 | DSP | c.6591C= (p.Gly2197=) c.7920C= (p.Gly2640=) c.6123C= (p.Gly2041=) | |
| 6 | g.7585182C>G | CA448716936 | DSP | c.6591C>G (p.Gly2197=) c.7920C>G (p.Gly2640=) c.6123C>G (p.Gly2041=) | |
| 6 | g.7585182C>T | CA051169 | DSP | c.6591C>T (p.Gly2197=) c.7920C>T (p.Gly2640=) c.6123C>T (p.Gly2041=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585183A>C | CA362694063 | DSP | c.6592A>C (p.Ile2198Leu) c.7921A>C (p.Ile2641Leu) c.6124A>C (p.Ile2042Leu) | |
| 6 | g.7585183A>G | CA362694064 | DSP | c.6592A>G (p.Ile2198Val) c.7921A>G (p.Ile2641Val) c.6124A>G (p.Ile2042Val) | |
| 6 | g.7585183A>T | CA362694065 | DSP | c.6592A>T (p.Ile2198Phe) c.7921A>T (p.Ile2641Phe) c.6124A>T (p.Ile2042Phe) | |
| 6 | g.7585184T>A | CA362694066 | DSP | c.6593T>A (p.Ile2198Asn) c.7922T>A (p.Ile2641Asn) c.6125T>A (p.Ile2042Asn) | |
| 6 | g.7585184T>C | CA362694068 | DSP | c.6593T>C (p.Ile2198Thr) c.7922T>C (p.Ile2641Thr) c.6125T>C (p.Ile2042Thr) | |
| 6 | g.7585184T>G | CA362694067 | DSP | c.6593T>G (p.Ile2198Ser) c.7922T>G (p.Ile2641Ser) c.6125T>G (p.Ile2042Ser) | |
| 6 | g.7585185C>A | CA133976820 | DSP | c.6594C>A (p.Ile2198=) c.7923C>A (p.Ile2641=) c.6126C>A (p.Ile2042=) | ClinVar dbSNP |
| 6 | g.7585185C= | CA1608613570 | DSP | c.6594C= (p.Ile2198=) c.7923C= (p.Ile2641=) c.6126C= (p.Ile2042=) | |
| 6 | g.7585185C>G | CA362694069 | DSP | c.6594C>G (p.Ile2198Met) c.7923C>G (p.Ile2641Met) c.6126C>G (p.Ile2042Met) | gnomAD v4 |
| 6 | g.7585185C>T | CA051180 | DSP | c.6594C>T (p.Ile2198=) c.7923C>T (p.Ile2641=) c.6126C>T (p.Ile2042=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7585186G>A | CA351806 | DSP | c.6595G>A (p.Val2199Ile) c.7924G>A (p.Val2642Ile) c.6127G>A (p.Val2043Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7585186G>C | CA362694070 | DSP | c.6595G>C (p.Val2199Leu) c.7924G>C (p.Val2642Leu) c.6127G>C (p.Val2043Leu) | |
| 6 | g.7585186G= | CA1608613576 | DSP | c.6595G= (p.Val2199=) c.7924G= (p.Val2642=) c.6127G= (p.Val2043=) | |
| 6 | g.7585186G>T | CA362694071 | DSP | c.6595G>T (p.Val2199Phe) c.7924G>T (p.Val2642Phe) c.6127G>T (p.Val2043Phe) | |
| 6 | g.7585187T>A | CA362694072 | DSP | c.6596T>A (p.Val2199Asp) c.7925T>A (p.Val2642Asp) c.6128T>A (p.Val2043Asp) | |
| 6 | g.7585187T>C | CA362694073 | DSP | c.6596T>C (p.Val2199Ala) c.7925T>C (p.Val2642Ala) c.6128T>C (p.Val2043Ala) | dbSNP |
| 6 | g.7585187T>G | CA362694074 | DSP | c.6596T>G (p.Val2199Gly) c.7925T>G (p.Val2642Gly) c.6128T>G (p.Val2043Gly) | |
| 6 | g.7585187T= | CA1608613594 | DSP | c.6596T= (p.Val2199=) c.7925T= (p.Val2642=) c.6128T= (p.Val2043=) | |
| 6 | g.7585188T>A | CA448716952 | DSP | c.6597T>A (p.Val2199=) c.7926T>A (p.Val2642=) c.6129T>A (p.Val2043=) | |
| 6 | g.7585188T>C | CA448716953 | DSP | c.6597T>C (p.Val2199=) c.7926T>C (p.Val2642=) c.6129T>C (p.Val2043=) | |
| 6 | g.7585188T>G | CA133976823 | DSP | c.6597T>G (p.Val2199=) c.7926T>G (p.Val2642=) c.6129T>G (p.Val2043=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585188T= | CA1608613600 | DSP | c.6597T= (p.Val2199=) c.7926T= (p.Val2642=) c.6129T= (p.Val2043=) | |
| 6 | g.7585189G>A | CA362694075 | DSP | c.6598G>A (p.Asp2200Asn) c.7927G>A (p.Asp2643Asn) c.6130G>A (p.Asp2044Asn) | ClinVar gnomAD v4 |
| 6 | g.7585189G>C | CA362694076 | DSP | c.6598G>C (p.Asp2200His) c.7927G>C (p.Asp2643His) c.6130G>C (p.Asp2044His) | |
| 6 | g.7585189G>T | CA362694077 | DSP | c.6598G>T (p.Asp2200Tyr) c.7927G>T (p.Asp2643Tyr) c.6130G>T (p.Asp2044Tyr) | |
| 6 | g.7585190A>C | CA362694080 | DSP | c.6599A>C (p.Asp2200Ala) c.7928A>C (p.Asp2643Ala) c.6131A>C (p.Asp2044Ala) | |
| 6 | g.7585190A>G | CA362694079 | DSP | c.6599A>G (p.Asp2200Gly) c.7928A>G (p.Asp2643Gly) c.6131A>G (p.Asp2044Gly) | |
| 6 | g.7585190A>T | CA362694078 | DSP | c.6599A>T (p.Asp2200Val) c.7928A>T (p.Asp2643Val) c.6131A>T (p.Asp2044Val) | |
| 6 | g.7585191C>A | CA362694082 | DSP | c.6600C>A (p.Asp2200Glu) c.7929C>A (p.Asp2643Glu) c.6132C>A (p.Asp2044Glu) | |
| 6 | g.7585191C>G | CA362694081 | DSP | c.6600C>G (p.Asp2200Glu) c.7929C>G (p.Asp2643Glu) c.6132C>G (p.Asp2044Glu) | |
| 6 | g.7585191C>T | CA448716959 | DSP | c.6600C>T (p.Asp2200=) c.7929C>T (p.Asp2643=) c.6132C>T (p.Asp2044=) | |
| 6 | g.7585192A>C | CA362694083 | DSP | c.6601A>C (p.Ser2201Arg) c.7930A>C (p.Ser2644Arg) c.6133A>C (p.Ser2045Arg) | |
| 6 | g.7585192A>G | CA362694084 | DSP | c.6601A>G (p.Ser2201Gly) c.7930A>G (p.Ser2644Gly) c.6133A>G (p.Ser2045Gly) | |
| 6 | g.7585192A>T | CA362694085 | DSP | c.6601A>T (p.Ser2201Cys) c.7930A>T (p.Ser2644Cys) c.6133A>T (p.Ser2045Cys) | |
| 6 | g.7585193G>A | CA362694086 | DSP | c.6602G>A (p.Ser2201Asn) c.7931G>A (p.Ser2644Asn) c.6134G>A (p.Ser2045Asn) | |
| 6 | g.7585193G>C | CA362694087 | DSP | c.6602G>C (p.Ser2201Thr) c.7931G>C (p.Ser2644Thr) c.6134G>C (p.Ser2045Thr) | ClinVar dbSNP |
| 6 | g.7585193G= | CA1608613607 | DSP | c.6602G= (p.Ser2201=) c.7931G= (p.Ser2644=) c.6134G= (p.Ser2045=) | |
| 6 | g.7585193G>T | CA362694088 | DSP | c.6602G>T (p.Ser2201Ile) c.7931G>T (p.Ser2644Ile) c.6134G>T (p.Ser2045Ile) | |
| 6 | g.7585194C>A | CA362694089 | DSP | c.6603C>A (p.Ser2201Arg) c.7932C>A (p.Ser2644Arg) c.6135C>A (p.Ser2045Arg) | |
| 6 | g.7585194C= | CA1608613613 | DSP | c.6603C= (p.Ser2201=) c.7932C= (p.Ser2644=) c.6135C= (p.Ser2045=) | |
| 6 | g.7585194C>G | CA362694090 | DSP | c.6603C>G (p.Ser2201Arg) c.7932C>G (p.Ser2644Arg) c.6135C>G (p.Ser2045Arg) | gnomAD v4 |
| 6 | g.7585194C>T | CA448716966 | DSP | c.6603C>T (p.Ser2201=) c.7932C>T (p.Ser2644=) c.6135C>T (p.Ser2045=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585195A>C | CA362694091 | DSP | c.6604A>C (p.Ile2202Leu) c.7933A>C (p.Ile2645Leu) c.6136A>C (p.Ile2046Leu) | |
| 6 | g.7585195A>G | CA362694092 | DSP | c.6604A>G (p.Ile2202Val) c.7933A>G (p.Ile2645Val) c.6136A>G (p.Ile2046Val) | gnomAD v4 |
| 6 | g.7585195A>T | CA362694093 | DSP | c.6604A>T (p.Ile2202Phe) c.7933A>T (p.Ile2645Phe) c.6136A>T (p.Ile2046Phe) | |
| 6 | g.7585196T>A | CA362694095 | DSP | c.6605T>A (p.Ile2202Asn) c.7934T>A (p.Ile2645Asn) c.6137T>A (p.Ile2046Asn) | |
| 6 | g.7585196T>C | CA051192 | DSP | c.6605T>C (p.Ile2202Thr) c.7934T>C (p.Ile2645Thr) c.6137T>C (p.Ile2046Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585196T>G | CA362694094 | DSP | c.6605T>G (p.Ile2202Ser) c.7934T>G (p.Ile2645Ser) c.6137T>G (p.Ile2046Ser) | gnomAD v4 |
| 6 | g.7585196T= | CA1608613623 | DSP | c.6605T= (p.Ile2202=) c.7934T= (p.Ile2645=) c.6137T= (p.Ile2046=) | |
| 6 | g.7585197C>A | CA448716969 | DSP | c.6606C>A (p.Ile2202=) c.7935C>A (p.Ile2645=) c.6138C>A (p.Ile2046=) | |
| 6 | g.7585197C>G | CA362694096 | DSP | c.6606C>G (p.Ile2202Met) c.7935C>G (p.Ile2645Met) c.6138C>G (p.Ile2046Met) | |
| 6 | g.7585197C>T | CA448716971 | DSP | c.6606C>T (p.Ile2202=) c.7935C>T (p.Ile2645=) c.6138C>T (p.Ile2046=) | ClinVar gnomAD v4 |
| 6 | g.7585198A>C | CA362694097 | DSP | c.6607A>C (p.Thr2203Pro) c.7936A>C (p.Thr2646Pro) c.6139A>C (p.Thr2047Pro) | |
| 6 | g.7585198A>G | CA362694098 | DSP | c.6607A>G (p.Thr2203Ala) c.7936A>G (p.Thr2646Ala) c.6139A>G (p.Thr2047Ala) | |
| 6 | g.7585198A>T | CA362694099 | DSP | c.6607A>T (p.Thr2203Ser) c.7936A>T (p.Thr2646Ser) c.6139A>T (p.Thr2047Ser) | |
| 6 | g.7585199C>A | CA362694100 | DSP | c.6608C>A (p.Thr2203Lys) c.7937C>A (p.Thr2646Lys) c.6140C>A (p.Thr2047Lys) | |
| 6 | g.7585199C= | CA1608613634 | DSP | c.6608C= (p.Thr2203=) c.7937C= (p.Thr2646=) c.6140C= (p.Thr2047=) | |
| 6 | g.7585199C>G | CA362694101 | DSP | c.6608C>G (p.Thr2203Arg) c.7937C>G (p.Thr2646Arg) c.6140C>G (p.Thr2047Arg) | gnomAD v4 |
| 6 | g.7585199C>T | CA362694102 | DSP | c.6608C>T (p.Thr2203Met) c.7937C>T (p.Thr2646Met) c.6140C>T (p.Thr2047Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585200G>A | CA448716974 | DSP | c.6609G>A (p.Thr2203=) c.7938G>A (p.Thr2646=) c.6141G>A (p.Thr2047=) | dbSNP gnomAD v4 COSMIC |
| 6 | g.7585200G>C | CA448716975 | DSP | c.6609G>C (p.Thr2203=) c.7938G>C (p.Thr2646=) c.6141G>C (p.Thr2047=) | gnomAD v4 |
| 6 | g.7585200G= | CA1608613645 | DSP | c.6609G= (p.Thr2203=) c.7938G= (p.Thr2646=) c.6141G= (p.Thr2047=) | |
| 6 | g.7585200G>T | CA448716976 | DSP | c.6609G>T (p.Thr2203=) c.7938G>T (p.Thr2646=) c.6141G>T (p.Thr2047=) | dbSNP |
| 6 | g.7585201G>A | CA362694103 | DSP | c.6610G>A (p.Gly2204Ser) c.7939G>A (p.Gly2647Ser) c.6142G>A (p.Gly2048Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7585201G>C | CA362694104 | DSP | c.6610G>C (p.Gly2204Arg) c.7939G>C (p.Gly2647Arg) c.6142G>C (p.Gly2048Arg) | |
| 6 | g.7585201G= | CA1608613648 | DSP | c.6610G= (p.Gly2204=) c.7939G= (p.Gly2647=) c.6142G= (p.Gly2048=) | |
| 6 | g.7585201G>T | CA362694105 | DSP | c.6610G>T (p.Gly2204Cys) c.7939G>T (p.Gly2647Cys) c.6142G>T (p.Gly2048Cys) | |
| 6 | g.7585202G>A | CA051198 | DSP | c.6611G>A (p.Gly2204Asp) c.7940G>A (p.Gly2647Asp) c.6143G>A (p.Gly2048Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585202G>C | CA362694106 | DSP | c.6611G>C (p.Gly2204Ala) c.7940G>C (p.Gly2647Ala) c.6143G>C (p.Gly2048Ala) | |
| 6 | g.7585202G= | CA1608613653 | DSP | c.6611G= (p.Gly2204=) c.7940G= (p.Gly2647=) c.6143G= (p.Gly2048=) | |
| 6 | g.7585202G>T | CA362694107 | DSP | c.6611G>T (p.Gly2204Val) c.7940G>T (p.Gly2647Val) c.6143G>T (p.Gly2048Val) | ClinVar dbSNP |
| 6 | g.7585203T>A | CA448716979 | DSP | c.6612T>A (p.Gly2204=) c.7941T>A (p.Gly2647=) c.6144T>A (p.Gly2048=) | |
| 6 | g.7585203T>C | CA448716980 | DSP | c.6612T>C (p.Gly2204=) c.7941T>C (p.Gly2647=) c.6144T>C (p.Gly2048=) | |
| 6 | g.7585203T>G | CA448716981 | DSP | c.6612T>G (p.Gly2204=) c.7941T>G (p.Gly2647=) c.6144T>G (p.Gly2048=) | |
| 6 | g.7585204C>A | CA362694109 | DSP | c.6613C>A (p.Gln2205Lys) c.7942C>A (p.Gln2648Lys) c.6145C>A (p.Gln2049Lys) | |
| 6 | g.7585204C>G | CA362694110 | DSP | c.6613C>G (p.Gln2205Glu) c.7942C>G (p.Gln2648Glu) c.6145C>G (p.Gln2049Glu) | ClinVar dbSNP |
| 6 | g.7585204C>T | CA362694108 | DSP | c.6613C>T (p.Gln2205Ter) c.7942C>T (p.Gln2648Ter) c.6145C>T (p.Gln2049Ter) | |
| 6 | g.7585205A= | CA1608613657 | DSP | c.6614A= (p.Gln2205=) c.7943A= (p.Gln2648=) c.6146A= (p.Gln2049=) | |
| 6 | g.7585205A>C | CA362694111 | DSP | c.6614A>C (p.Gln2205Pro) c.7943A>C (p.Gln2648Pro) c.6146A>C (p.Gln2049Pro) | |
| 6 | g.7585205A>G | CA362694112 | DSP | c.6614A>G (p.Gln2205Arg) c.7943A>G (p.Gln2648Arg) c.6146A>G (p.Gln2049Arg) | dbSNP gnomAD v4 |
| 6 | g.7585205A>T | CA362694113 | DSP | c.6614A>T (p.Gln2205Leu) c.7943A>T (p.Gln2648Leu) c.6146A>T (p.Gln2049Leu) | |
| 6 | g.7585206G>A | CA448716982 | DSP | c.6615G>A (p.Gln2205=) c.7944G>A (p.Gln2648=) c.6147G>A (p.Gln2049=) | |
| 6 | g.7585206G>C | CA362694114 | DSP | c.6615G>C (p.Gln2205His) c.7944G>C (p.Gln2648His) c.6147G>C (p.Gln2049His) | |
| 6 | g.7585206G>T | CA362694115 | DSP | c.6615G>T (p.Gln2205His) c.7944G>T (p.Gln2648His) c.6147G>T (p.Gln2049His) | |
| 6 | g.7585207A>C | CA448716987 | DSP | c.6616A>C (p.Arg2206=) c.7945A>C (p.Arg2649=) c.6148A>C (p.Arg2050=) | |
| 6 | g.7585207A>G | CA362694116 | DSP | c.6616A>G (p.Arg2206Gly) c.7945A>G (p.Arg2649Gly) c.6148A>G (p.Arg2050Gly) | |
| 6 | g.7585207A>T | CA362694117 | DSP | c.6616A>T (p.Arg2206Trp) c.7945A>T (p.Arg2649Trp) c.6148A>T (p.Arg2050Trp) | |
| 6 | g.7585208G>A | CA362694120 | DSP | c.6617G>A (p.Arg2206Lys) c.7946G>A (p.Arg2649Lys) c.6149G>A (p.Arg2050Lys) | |
| 6 | g.7585208G>C | CA362694118 | DSP | c.6617G>C (p.Arg2206Thr) c.7946G>C (p.Arg2649Thr) c.6149G>C (p.Arg2050Thr) | |
| 6 | g.7585208G>T | CA362694119 | DSP | c.6617G>T (p.Arg2206Met) c.7946G>T (p.Arg2649Met) c.6149G>T (p.Arg2050Met) | |
| 6 | g.7585209dup | CA2677221030 | DSP | c.6618dup (p.Leu2207AlafsTer?) c.7947dup (p.Leu2650AlafsTer?) c.6150dup (p.Leu2051AlafsTer?) | gnomAD v4 |
| 6 | g.7585209G>A | CA448716988 | DSP | c.6618G>A (p.Arg2206=) c.7947G>A (p.Arg2649=) c.6150G>A (p.Arg2050=) | ClinVar |
| 6 | g.7585209G>C | CA362694121 | DSP | c.6618G>C (p.Arg2206Ser) c.7947G>C (p.Arg2649Ser) c.6150G>C (p.Arg2050Ser) | |
| 6 | g.7585209G>T | CA362694122 | DSP | c.6618G>T (p.Arg2206Ser) c.7947G>T (p.Arg2649Ser) c.6150G>T (p.Arg2050Ser) | |
| 6 | g.7585210C>A | CA362694123 | DSP | c.6619C>A (p.Leu2207Ile) c.7948C>A (p.Leu2650Ile) c.6151C>A (p.Leu2051Ile) | dbSNP |
| 6 | g.7585210C= | CA1608613662 | DSP | c.6619C= (p.Leu2207=) c.7948C= (p.Leu2650=) c.6151C= (p.Leu2051=) | |
| 6 | g.7585210C>G | CA362694124 | DSP | c.6619C>G (p.Leu2207Val) c.7948C>G (p.Leu2650Val) c.6151C>G (p.Leu2051Val) | |
| 6 | g.7585210C>T | CA051213 | DSP | c.6619C>T (p.Leu2207Phe) c.7948C>T (p.Leu2650Phe) c.6151C>T (p.Leu2051Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585211T>A | CA362694125 | DSP | c.6620T>A (p.Leu2207His) c.7949T>A (p.Leu2650His) c.6152T>A (p.Leu2051His) | |
| 6 | g.7585211T>C | CA362694127 | DSP | c.6620T>C (p.Leu2207Pro) c.7949T>C (p.Leu2650Pro) c.6152T>C (p.Leu2051Pro) | |
| 6 | g.7585211T>G | CA362694126 | DSP | c.6620T>G (p.Leu2207Arg) c.7949T>G (p.Leu2650Arg) c.6152T>G (p.Leu2051Arg) | |
| 6 | g.7585212T>A | CA448716993 | DSP | c.6621T>A (p.Leu2207=) c.7950T>A (p.Leu2650=) c.6153T>A (p.Leu2051=) | |
| 6 | g.7585212T>C | CA448716994 | DSP | c.6621T>C (p.Leu2207=) c.7950T>C (p.Leu2650=) c.6153T>C (p.Leu2051=) | |
| 6 | g.7585212T>G | CA448716995 | DSP | c.6621T>G (p.Leu2207=) c.7950T>G (p.Leu2650=) c.6153T>G (p.Leu2051=) | |
| 6 | g.7585213C>A | CA362694128 | DSP | c.6622C>A (p.Leu2208Met) c.7951C>A (p.Leu2651Met) c.6154C>A (p.Leu2052Met) | |
| 6 | g.7585213C= | CA1608613668 | DSP | c.6622C= (p.Leu2208=) c.7951C= (p.Leu2651=) c.6154C= (p.Leu2052=) | |
| 6 | g.7585213C>G | CA362694129 | DSP | c.6622C>G (p.Leu2208Val) c.7951C>G (p.Leu2651Val) c.6154C>G (p.Leu2052Val) | |
| 6 | g.7585213C>T | CA448716996 | DSP | c.6622C>T (p.Leu2208=) c.7951C>T (p.Leu2651=) c.6154C>T (p.Leu2052=) | ClinVar dbSNP |
| 6 | g.7585214T>A | CA362694130 | DSP | c.6623T>A (p.Leu2208Gln) c.7952T>A (p.Leu2651Gln) c.6155T>A (p.Leu2052Gln) | |
| 6 | g.7585214T>C | CA362694131 | DSP | c.6623T>C (p.Leu2208Pro) c.7952T>C (p.Leu2651Pro) c.6155T>C (p.Leu2052Pro) | |
| 6 | g.7585214T>G | CA362694132 | DSP | c.6623T>G (p.Leu2208Arg) c.7952T>G (p.Leu2651Arg) c.6155T>G (p.Leu2052Arg) | |
| 6 | g.7585215G>A | CA448716999 | DSP | c.6624G>A (p.Leu2208=) c.7953G>A (p.Leu2651=) c.6156G>A (p.Leu2052=) | |
| 6 | g.7585215G>C | CA448717001 | DSP | c.6624G>C (p.Leu2208=) c.7953G>C (p.Leu2651=) c.6156G>C (p.Leu2052=) | |
| 6 | g.7585215G>T | CA448717000 | DSP | c.6624G>T (p.Leu2208=) c.7953G>T (p.Leu2651=) c.6156G>T (p.Leu2052=) | |
| 6 | g.7585216G>A | CA133976896 | DSP | c.6625G>A (p.Glu2209Lys) c.7954G>A (p.Glu2652Lys) c.6157G>A (p.Glu2053Lys) | dbSNP gnomAD v4 |
| 6 | g.7585216G>C | CA362694133 | DSP | c.6625G>C (p.Glu2209Gln) c.7954G>C (p.Glu2652Gln) c.6157G>C (p.Glu2053Gln) | |
| 6 | g.7585216G= | CA1608613675 | DSP | c.6625G= (p.Glu2209=) c.7954G= (p.Glu2652=) c.6157G= (p.Glu2053=) | |
| 6 | g.7585216G>T | CA362694134 | DSP | c.6625G>T (p.Glu2209Ter) c.7954G>T (p.Glu2652Ter) c.6157G>T (p.Glu2053Ter) | |
| 6 | g.7585217A= | CA1608613676 | DSP | c.6626A= (p.Glu2209=) c.7955A= (p.Glu2652=) c.6158A= (p.Glu2053=) | |
| 6 | g.7585217A>C | CA362694135 | DSP | c.6626A>C (p.Glu2209Ala) c.7955A>C (p.Glu2652Ala) c.6158A>C (p.Glu2053Ala) | |
| 6 | g.7585217A>G | CA362694136 | DSP | c.6626A>G (p.Glu2209Gly) c.7955A>G (p.Glu2652Gly) c.6158A>G (p.Glu2053Gly) | dbSNP |
| 6 | g.7585217A>T | CA362694137 | DSP | c.6626A>T (p.Glu2209Val) c.7955A>T (p.Glu2652Val) c.6158A>T (p.Glu2053Val) | |
| 6 | g.7585218G>A | CA051221 | DSP | c.6627G>A (p.Glu2209=) c.7956G>A (p.Glu2652=) c.6159G>A (p.Glu2053=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585218G>C | CA362694139 | DSP | c.6627G>C (p.Glu2209Asp) c.7956G>C (p.Glu2652Asp) c.6159G>C (p.Glu2053Asp) | |
| 6 | g.7585218G= | CA1608613677 | DSP | c.6627G= (p.Glu2209=) c.7956G= (p.Glu2652=) c.6159G= (p.Glu2053=) | |
| 6 | g.7585218G>T | CA362694138 | DSP | c.6627G>T (p.Glu2209Asp) c.7956G>T (p.Glu2652Asp) c.6159G>T (p.Glu2053Asp) | |
| 6 | g.7585219G>A | CA362694140 | DSP | c.6628G>A (p.Ala2210Thr) c.7957G>A (p.Ala2653Thr) c.6160G>A (p.Ala2054Thr) | gnomAD v4 |
| 6 | g.7585219G>C | CA362694141 | DSP | c.6628G>C (p.Ala2210Pro) c.7957G>C (p.Ala2653Pro) c.6160G>C (p.Ala2054Pro) | |
| 6 | g.7585219G>T | CA362694142 | DSP | c.6628G>T (p.Ala2210Ser) c.7957G>T (p.Ala2653Ser) c.6160G>T (p.Ala2054Ser) | |
| 6 | g.7585220C>A | CA362694143 | DSP | c.6629C>A (p.Ala2210Asp) c.7958C>A (p.Ala2653Asp) c.6161C>A (p.Ala2054Asp) | |
| 6 | g.7585220C>G | CA362694144 | DSP | c.6629C>G (p.Ala2210Gly) c.7958C>G (p.Ala2653Gly) c.6161C>G (p.Ala2054Gly) | |
| 6 | g.7585220C>T | CA362694145 | DSP | c.6629C>T (p.Ala2210Val) c.7958C>T (p.Ala2653Val) c.6161C>T (p.Ala2054Val) | |
| 6 | g.7585221T>A | CA448717007 | DSP | c.6630T>A (p.Ala2210=) c.7959T>A (p.Ala2653=) c.6162T>A (p.Ala2054=) | |
| 6 | g.7585221T>C | CA448717009 | DSP | c.6630T>C (p.Ala2210=) c.7959T>C (p.Ala2653=) c.6162T>C (p.Ala2054=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585221T>G | CA448717011 | DSP | c.6630T>G (p.Ala2210=) c.7959T>G (p.Ala2653=) c.6162T>G (p.Ala2054=) | |
| 6 | g.7585221T= | CA1608613681 | DSP | c.6630T= (p.Ala2210=) c.7959T= (p.Ala2653=) c.6162T= (p.Ala2054=) | |
| 6 | g.7585222C>A | CA362694146 | DSP | c.6631C>A (p.Gln2211Lys) c.7960C>A (p.Gln2654Lys) c.6163C>A (p.Gln2055Lys) | |
| 6 | g.7585222C= | CA1608613682 | DSP | c.6631C= (p.Gln2211=) c.7960C= (p.Gln2654=) c.6163C= (p.Gln2055=) | |
| 6 | g.7585222C>G | CA362694147 | DSP | c.6631C>G (p.Gln2211Glu) c.7960C>G (p.Gln2654Glu) c.6163C>G (p.Gln2055Glu) | |
| 6 | g.7585222C>T | CA362694148 | DSP | c.6631C>T (p.Gln2211Ter) c.7960C>T (p.Gln2654Ter) c.6163C>T (p.Gln2055Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585223A>C | CA362694149 | DSP | c.6632A>C (p.Gln2211Pro) c.7961A>C (p.Gln2654Pro) c.6164A>C (p.Gln2055Pro) | |
| 6 | g.7585223A>G | CA362694150 | DSP | c.6632A>G (p.Gln2211Arg) c.7961A>G (p.Gln2654Arg) c.6164A>G (p.Gln2055Arg) | |
| 6 | g.7585223A>T | CA362694151 | DSP | c.6632A>T (p.Gln2211Leu) c.7961A>T (p.Gln2654Leu) c.6164A>T (p.Gln2055Leu) | |
| 6 | g.7585223_7585224delinsAG | CA1608613684 | DSP | c.6632_6633delinsAG (p.Gln2211=) c.7961_7962delinsAG (p.Gln2654=) c.6164_6165delinsAG (p.Gln2055=) | |
| 6 | g.7585224G>A | CA051231 | DSP | c.6633G>A (p.Gln2211=) c.7962G>A (p.Gln2654=) c.6165G>A (p.Gln2055=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7585224G>C | CA362694152 | DSP | c.6633G>C (p.Gln2211His) c.7962G>C (p.Gln2654His) c.6165G>C (p.Gln2055His) | |
| 6 | g.7585224G= | CA1608613691 | DSP | c.6633G= (p.Gln2211=) c.7962G= (p.Gln2654=) c.6165G= (p.Gln2055=) | |
| 6 | g.7585224G>T | CA362694153 | DSP | c.6633G>T (p.Gln2211His) c.7962G>T (p.Gln2654His) c.6165G>T (p.Gln2055His) | |
| 6 | g.7585225del | CA1085706931 | DSP | c.6634del (p.Ala2212ProfsTer25) c.7963del (p.Ala2655ProfsTer25) c.6166del (p.Ala2056ProfsTer25) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585225G>A | CA362694154 | DSP | c.6634G>A (p.Ala2212Thr) c.7963G>A (p.Ala2655Thr) c.6166G>A (p.Ala2056Thr) | |
| 6 | g.7585225G>C | CA362694155 | DSP | c.6634G>C (p.Ala2212Pro) c.7963G>C (p.Ala2655Pro) c.6166G>C (p.Ala2056Pro) | |
| 6 | g.7585225G= | CA1608613696 | DSP | c.6634G= (p.Ala2212=) c.7963G= (p.Ala2655=) c.6166G= (p.Ala2056=) | |
| 6 | g.7585225G>T | CA051243 | DSP | c.6634G>T (p.Ala2212Ser) c.7963G>T (p.Ala2655Ser) c.6166G>T (p.Ala2056Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |