OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.52452053C>T | CA2666014529 | TNNC1 | c.202+53G>A (n.202+53G>A) c.70+53G>A (n.70+53G>A) | gnomAD v4 |
| 3 | g.52452054C= | CA1364863930 | TNNC1 | c.202+52G= (n.202+52G=) c.70+52G= (n.70+52G=) | |
| 3 | g.52452054C>T | CA908098536 | TNNC1 | c.202+52G>A (n.202+52G>A) c.70+52G>A (n.70+52G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.52452057C>T | CA2666014537 | TNNC1 | c.202+49G>A (n.202+49G>A) c.70+49G>A (n.70+49G>A) | gnomAD v4 |
| 3 | g.52452061dup | CA2666014534 | TNNC1 | c.202+49dup (n.202+49dup) c.70+49dup (n.70+49dup) | gnomAD v4 |
| 3 | g.52452059C= | CA1364863931 | TNNC1 | c.202+47G= (n.202+47G=) c.70+47G= (n.70+47G=) | |
| 3 | g.52452059C>G | CA543056811 | TNNC1 | c.202+47G>C (n.202+47G>C) c.70+47G>C (n.70+47G>C) | dbSNP gnomAD v2 |
| 3 | g.52452059C>T | CA2666014538 | TNNC1 | c.202+47G>A (n.202+47G>A) c.70+47G>A (n.70+47G>A) | gnomAD v4 |
| 3 | g.52452060C>A | CA2666014540 | TNNC1 | c.202+46G>T (n.202+46G>T) c.70+46G>T (n.70+46G>T) | gnomAD v4 |
| 3 | g.52452060C>T | CA2666014541 | TNNC1 | c.202+46G>A (n.202+46G>A) c.70+46G>A (n.70+46G>A) | gnomAD v4 |
| 3 | g.52452061C= | CA1364863932 | TNNC1 | c.202+45G= (n.202+45G=) c.70+45G= (n.70+45G=) | |
| 3 | g.52452061C>T | CA2438567 | TNNC1 | c.202+45G>A (n.202+45G>A) c.70+45G>A (n.70+45G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.52452062A= | CA1364863933 | TNNC1 | c.202+44T= (n.202+44T=) c.70+44T= (n.70+44T=) | |
| 3 | g.52452062A>C | CA2438568 | TNNC1 | c.202+44T>G (n.202+44T>G) c.70+44T>G (n.70+44T>G) | dbSNP ExAC gnomAD v2 |
| 3 | g.52452063G>A | CA2438569 | TNNC1 | c.202+43C>T (n.202+43C>T) c.70+43C>T (n.70+43C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52452063G>C | CA543056812 | TNNC1 | c.202+43C>G (n.202+43C>G) c.70+43C>G (n.70+43C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52452063G= | CA1364863934 | TNNC1 | c.202+43C= (n.202+43C=) c.70+43C= (n.70+43C=) | |
| 3 | g.52452064C>A | CA2702822904 | TNNC1 | c.202+42G>T (n.202+42G>T) c.70+42G>T (n.70+42G>T) | dbSNP |
| 3 | g.52452065C>T | CA2577783429 | TNNC1 | c.202+41G>A (n.202+41G>A) c.70+41G>A (n.70+41G>A) | gnomAD v4 |
| 3 | g.52452066A>G | CA2577783430 | TNNC1 | c.202+40T>C (n.202+40T>C) c.70+40T>C (n.70+40T>C) | |
| 3 | g.52452066A>T | CA2577783431 | TNNC1 | c.202+40T>A (n.202+40T>A) c.70+40T>A (n.70+40T>A) | |
| 3 | g.52452067G>A | CA1047976153 | TNNC1 | c.202+39C>T (n.202+39C>T) c.70+39C>T (n.70+39C>T) | dbSNP |
| 3 | g.52452067G= | CA1364863935 | TNNC1 | c.202+39C= (n.202+39C=) c.70+39C= (n.70+39C=) | |
| 3 | g.52452067G>T | CA2666014550 | TNNC1 | c.202+39C>A (n.202+39C>A) c.70+39C>A (n.70+39C>A) | gnomAD v4 |
| 3 | g.52452068del | CA2666014551 | TNNC1 | c.202+38del (n.202+38del) c.70+38del (n.70+38del) | gnomAD v4 |
| 3 | g.52452069T>A | CA2666014552 | TNNC1 | c.202+37A>T (n.202+37A>T) c.70+37A>T (n.70+37A>T) | gnomAD v4 |
| 3 | g.52452069T= | CA1364863936 | TNNC1 | c.202+37A= (n.202+37A=) c.70+37A= (n.70+37A=) | |
| 3 | g.52452070G>A | CA908098543 | TNNC1 | c.202+36C>T (n.202+36C>T) c.70+36C>T (n.70+36C>T) | dbSNP |
| 3 | g.52452070G= | CA1364863938 | TNNC1 | c.202+36C= (n.202+36C=) c.70+36C= (n.70+36C=) | |
| 3 | g.52452073dup | CA1364863937 | TNNC1 | c.202+36dup (n.202+36dup) c.70+36dup (n.70+36dup) | dbSNP |
| 3 | g.52452071G>C | CA543056813 | TNNC1 | c.202+35C>G (n.202+35C>G) c.70+35C>G (n.70+35C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.52452071G= | CA1364863939 | TNNC1 | c.202+35C= (n.202+35C=) c.70+35C= (n.70+35C=) | |
| 3 | g.52452077T>C | CA2666014557 | TNNC1 | c.202+29A>G (n.202+29A>G) c.70+29A>G (n.70+29A>G) | gnomAD v4 |
| 3 | g.52452078T>C | CA543056815 | TNNC1 | c.202+28A>G (n.202+28A>G) c.70+28A>G (n.70+28A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.52452078T= | CA1364863940 | TNNC1 | c.202+28A= (n.202+28A=) c.70+28A= (n.70+28A=) | |
| 3 | g.52452079C= | CA1364863941 | TNNC1 | c.202+27G= (n.202+27G=) c.70+27G= (n.70+27G=) | |
| 3 | g.52452079C>T | CA543056816 | TNNC1 | c.202+27G>A (n.202+27G>A) c.70+27G>A (n.70+27G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.52452081G>A | CA2666014564 | TNNC1 | c.202+25C>T (n.202+25C>T) c.70+25C>T (n.70+25C>T) | gnomAD v4 |
| 3 | g.52452082G>C | CA1364863943 | TNNC1 | c.202+24C>G (n.202+24C>G) c.70+24C>G (n.70+24C>G) | dbSNP gnomAD v4 |
| 3 | g.52452082G= | CA1364863942 | TNNC1 | c.202+24C= (n.202+24C=) c.70+24C= (n.70+24C=) | |
| 3 | g.52452084G>A | CA543056817 | TNNC1 | c.202+22C>T (n.202+22C>T) c.70+22C>T (n.70+22C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.52452084G= | CA1364863944 | TNNC1 | c.202+22C= (n.202+22C=) c.70+22C= (n.70+22C=) | |
| 3 | g.52452084G>T | CA2666014573 | TNNC1 | c.202+22C>A (n.202+22C>A) c.70+22C>A (n.70+22C>A) | gnomAD v4 |
| 3 | g.52452085C= | CA1364863945 | TNNC1 | c.202+21G= (n.202+21G=) c.70+21G= (n.70+21G=) | |
| 3 | g.52452085C>T | CA543056818 | TNNC1 | c.202+21G>A (n.202+21G>A) c.70+21G>A (n.70+21G>A) | dbSNP gnomAD v2 |
| 3 | g.52452086C>T | CA2573137355 | TNNC1 | c.202+20G>A (n.202+20G>A) c.70+20G>A (n.70+20G>A) | ClinVar dbSNP |
| 3 | g.52452087T>C | CA74775930 | TNNC1 | c.202+19A>G (n.202+19A>G) c.70+19A>G (n.70+19A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.52452087T>G | CA2756270264 | TNNC1 | c.202+19A>C (n.202+19A>C) c.70+19A>C (n.70+19A>C) | |
| 3 | g.52452087T= | CA1364863946 | TNNC1 | c.202+19A= (n.202+19A=) c.70+19A= (n.70+19A=) | |
| 3 | g.52452090G>A | CA908098555 | TNNC1 | c.202+16C>T (n.202+16C>T) c.70+16C>T (n.70+16C>T) | dbSNP |
| 3 | g.52452090G>C | CA2580070211 | TNNC1 | c.202+16C>G (n.202+16C>G) c.70+16C>G (n.70+16C>G) | ClinVar |
| 3 | g.52452090G= | CA1364863947 | TNNC1 | c.202+16C= (n.202+16C=) c.70+16C= (n.70+16C=) | |
| 3 | g.52452091G>C | CA543056819 | TNNC1 | c.202+15C>G (n.202+15C>G) c.70+15C>G (n.70+15C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.52452091G= | CA1364863948 | TNNC1 | c.202+15C= (n.202+15C=) c.70+15C= (n.70+15C=) | |
| 3 | g.52452093G>A | CA2573137356 | TNNC1 | c.202+13C>T (n.202+13C>T) c.70+13C>T (n.70+13C>T) | ClinVar dbSNP |
| 3 | g.52452094G>A | CA2438570 | TNNC1 | c.202+12C>T (n.202+12C>T) c.70+12C>T (n.70+12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52452094G= | CA1364863949 | TNNC1 | c.202+12C= (n.202+12C=) c.70+12C= (n.70+12C=) | |
| 3 | g.52452094G>T | CA2666014593 | TNNC1 | c.202+12C>A (n.202+12C>A) c.70+12C>A (n.70+12C>A) | gnomAD v4 |
| 3 | g.52452096G>A | CA2438571 | TNNC1 | c.202+10C>T (n.202+10C>T) c.70+10C>T (n.70+10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.52452096G>C | CA915942488 | TNNC1 | c.202+10C>G (n.202+10C>G) c.70+10C>G (n.70+10C>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52452096G= | CA1364863950 | TNNC1 | c.202+10C= (n.202+10C=) c.70+10C= (n.70+10C=) | |
| 3 | g.52452097G>A | CA913190153 | TNNC1 | c.202+9C>T (n.202+9C>T) c.70+9C>T (n.70+9C>T) | ClinVar dbSNP |
| 3 | g.52452097G= | CA1364863951 | TNNC1 | c.202+9C= (n.202+9C=) c.70+9C= (n.70+9C=) | |
| 3 | g.52452097_52452098insACAAAT | CA2756270265 | TNNC1 | c.202+8_202+9insATTTGT (n.202+8_202+9insATTTGT) c.70+8_70+9insATTTGT (n.70+8_70+9insATTTGT) | |
| 3 | g.52452098G>T | CA2580070212 | TNNC1 | c.202+8C>A (n.202+8C>A) c.70+8C>A (n.70+8C>A) | ClinVar gnomAD v4 |
| 3 | g.52452099G>A | CA1364863954 | TNNC1 | c.202+7C>T (n.202+7C>T) c.70+7C>T (n.70+7C>T) | dbSNP gnomAD v4 |
| 3 | g.52452099G= | CA1364863952 | TNNC1 | c.202+7C= (n.202+7C=) c.70+7C= (n.70+7C=) | |
| 3 | g.52452099G>T | CA1364863953 | TNNC1 | c.202+7C>A (n.202+7C>A) c.70+7C>A (n.70+7C>A) | dbSNP |
| 3 | g.52452100G>A | CA2438572 | TNNC1 | c.202+6C>T (n.202+6C>T) c.70+6C>T (n.70+6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.52452100G= | CA1364863955 | TNNC1 | c.202+6C= (n.202+6C=) c.70+6C= (n.70+6C=) | |
| 3 | g.52452100G>T | CA2756270266 | TNNC1 | c.202+6C>A (n.202+6C>A) c.70+6C>A (n.70+6C>A) | |
| 3 | g.52452101C= | CA1364863956 | TNNC1 | c.202+5G= (n.202+5G=) c.70+5G= (n.70+5G=) | |
| 3 | g.52452101C>G | CA2438573 | TNNC1 | c.202+5G>C (n.202+5G>C) c.70+5G>C (n.70+5G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52452101C>T | CA74775964 | TNNC1 | c.202+5G>A (n.202+5G>A) c.70+5G>A (n.70+5G>A) | dbSNP gnomAD v2 |
| 3 | g.52452102T>C | CA2573137357 | TNNC1 | c.202+4A>G (n.202+4A>G) c.70+4A>G (n.70+4A>G) | ClinVar dbSNP |
| 3 | g.52452103C>A | CA2666014619 | TNNC1 | c.202+3G>T (n.202+3G>T) c.70+3G>T (n.70+3G>T) | gnomAD v4 |
| 3 | g.52452103C= | CA1364863957 | TNNC1 | c.202+3G= (n.202+3G=) c.70+3G= (n.70+3G=) | |
| 3 | g.52452103C>T | CA2438574 | TNNC1 | c.202+3G>A (n.202+3G>A) c.70+3G>A (n.70+3G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.52452104A= | CA1364863958 | TNNC1 | c.202+2T= (n.202+2T=) c.70+2T= (n.70+2T=) | |
| 3 | g.52452104A>C | CA353167834 | TNNC1 | c.202+2T>G (n.202+2T>G) c.70+2T>G (n.70+2T>G) | |
| 3 | g.52452104A>G | CA74775991 | TNNC1 | c.202+2T>C (n.202+2T>C) c.70+2T>C (n.70+2T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.52452104A>T | CA74776004 | TNNC1 | c.202+2T>A (n.202+2T>A) c.70+2T>A (n.70+2T>A) | dbSNP |
| 3 | g.52452105C>A | CA353167858 | TNNC1 | c.202+1G>T (n.202+1G>T) c.70+1G>T (n.70+1G>T) | |
| 3 | g.52452105C= | CA1364863959 | TNNC1 | c.202+1G= (n.202+1G=) c.70+1G= (n.70+1G=) | |
| 3 | g.52452105C>G | CA353167860 | TNNC1 | c.202+1G>C (n.202+1G>C) c.70+1G>C (n.70+1G>C) | |
| 3 | g.52452105C>T | CA353167861 | TNNC1 | c.202+1G>A (n.202+1G>A) c.70+1G>A (n.70+1G>A) | dbSNP COSMIC |
| 3 | g.52452106C>A | CA353167866 | TNNC1 | c.202G>T (p.Gly68Cys) c.70G>T (p.Gly24Cys) | |
| 3 | g.52452106C= | CA1364863960 | TNNC1 | c.202G= (p.Gly68=) c.70G= (p.Gly24=) | |
| 3 | g.52452106C>G | CA353167875 | TNNC1 | c.202G>C (p.Gly68Arg) c.70G>C (p.Gly24Arg) | |
| 3 | g.52452106C>T | CA353167879 | TNNC1 | c.202G>A (p.Gly68Ser) c.70G>A (p.Gly24Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.52452107G>A | CA181549 | TNNC1 | c.201C>T (p.Asp67=) c.69C>T (p.Asp23=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.52452107G>C | CA353167890 | TNNC1 | c.201C>G (p.Asp67Glu) c.69C>G (p.Asp23Glu) | |
| 3 | g.52452107G= | CA1364863961 | TNNC1 | c.201C= (p.Asp67=) c.69C= (p.Asp23=) | |
| 3 | g.52452107G>T | CA353167888 | TNNC1 | c.201C>A (p.Asp67Glu) c.69C>A (p.Asp23Glu) | |
| 3 | g.52452108T>A | CA353167915 | TNNC1 | c.200A>T (p.Asp67Val) c.68A>T (p.Asp23Val) | |
| 3 | g.52452108T>C | CA353167930 | TNNC1 | c.200A>G (p.Asp67Gly) c.68A>G (p.Asp23Gly) | |
| 3 | g.52452108T>G | CA353167933 | TNNC1 | c.200A>C (p.Asp67Ala) c.68A>C (p.Asp23Ala) | |
| 3 | g.52452109C>A | CA353167939 | TNNC1 | c.199G>T (p.Asp67Tyr) c.67G>T (p.Asp23Tyr) | |
| 3 | g.52452109C>G | CA353167944 | TNNC1 | c.199G>C (p.Asp67His) c.67G>C (p.Asp23His) | |
| 3 | g.52452109C>T | CA353167947 | TNNC1 | c.199G>A (p.Asp67Asn) c.67G>A (p.Asp23Asn) | |
| 3 | g.52452110C>A | CA353167952 | TNNC1 | c.198G>T (p.Glu66Asp) c.66G>T (p.Glu22Asp) | |
| 3 | g.52452110C>G | CA353167953 | TNNC1 | c.198G>C (p.Glu66Asp) c.66G>C (p.Glu22Asp) | |
| 3 | g.52452110C>T | CA433886775 | TNNC1 | c.198G>A (p.Glu66=) c.66G>A (p.Glu22=) | |
| 3 | g.52452111T>A | CA353167955 | TNNC1 | c.197A>T (p.Glu66Val) c.65A>T (p.Glu22Val) | |
| 3 | g.52452111T>C | CA353167956 | TNNC1 | c.197A>G (p.Glu66Gly) c.65A>G (p.Glu22Gly) | |
| 3 | g.52452111T>G | CA353167957 | TNNC1 | c.197A>C (p.Glu66Ala) c.65A>C (p.Glu22Ala) | |
| 3 | g.52452112C>A | CA353167972 | TNNC1 | c.196G>T (p.Glu66Ter) c.64G>T (p.Glu22Ter) | |
| 3 | g.52452112C= | CA1364863962 | TNNC1 | c.196G= (p.Glu66=) c.64G= (p.Glu22=) | |
| 3 | g.52452112C>G | CA353167969 | TNNC1 | c.196G>C (p.Glu66Gln) c.64G>C (p.Glu22Gln) | |
| 3 | g.52452112C>T | CA353167962 | TNNC1 | c.196G>A (p.Glu66Lys) c.64G>A (p.Glu22Lys) | ClinVar dbSNP |
| 3 | g.52452113G>A | CA2438575 | TNNC1 | c.195C>T (p.Asp65=) c.63C>T (p.Asp21=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52452113G>C | CA353167991 | TNNC1 | c.195C>G (p.Asp65Glu) c.63C>G (p.Asp21Glu) | ClinVar dbSNP |
| 3 | g.52452113G= | CA1364863963 | TNNC1 | c.195C= (p.Asp65=) c.63C= (p.Asp21=) | |
| 3 | g.52452113G>T | CA353167992 | TNNC1 | c.195C>A (p.Asp65Glu) c.63C>A (p.Asp21Glu) | |
| 3 | g.52452114T>A | CA353167994 | TNNC1 | c.194A>T (p.Asp65Val) c.62A>T (p.Asp21Val) | |
| 3 | g.52452114T>C | CA353167995 | TNNC1 | c.194A>G (p.Asp65Gly) c.62A>G (p.Asp21Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.52452114T>G | CA353167997 | TNNC1 | c.194A>C (p.Asp65Ala) c.62A>C (p.Asp21Ala) | |
| 3 | g.52452114T= | CA1364863964 | TNNC1 | c.194A= (p.Asp65=) c.62A= (p.Asp21=) | |
| 3 | g.52452115C>A | CA353168003 | TNNC1 | c.193G>T (p.Asp65Tyr) c.61G>T (p.Asp21Tyr) | |
| 3 | g.52452115C= | CA1364863965 | TNNC1 | c.193G= (p.Asp65=) c.61G= (p.Asp21=) | |
| 3 | g.52452115C>G | CA353168007 | TNNC1 | c.193G>C (p.Asp65His) c.61G>C (p.Asp21His) | |
| 3 | g.52452115C>T | CA74776007 | TNNC1 | c.193G>A (p.Asp65Asn) c.61G>A (p.Asp21Asn) | dbSNP |
| 3 | g.52452116C>A | CA433886777 | TNNC1 | c.192G>T (p.Val64=) c.60G>T (p.Val20=) | |
| 3 | g.52452116C= | CA1364863966 | TNNC1 | c.192G= (p.Val64=) c.60G= (p.Val20=) | |
| 3 | g.52452116C>G | CA433886778 | TNNC1 | c.192G>C (p.Val64=) c.60G>C (p.Val20=) | |
| 3 | g.52452116C>T | CA433886779 | TNNC1 | c.192G>A (p.Val64=) c.60G>A (p.Val20=) | dbSNP gnomAD v4 |
| 3 | g.52452117A= | CA1364863967 | TNNC1 | c.191T= (p.Val64=) c.59T= (p.Val20=) | |
| 3 | g.52452117A>C | CA353168016 | TNNC1 | c.191T>G (p.Val64Gly) c.59T>G (p.Val20Gly) | |
| 3 | g.52452117A>G | CA297313 | TNNC1 | c.191T>C (p.Val64Ala) c.59T>C (p.Val20Ala) | ClinVar dbSNP |
| 3 | g.52452117A>T | CA353168020 | TNNC1 | c.191T>A (p.Val64Glu) c.59T>A (p.Val20Glu) | |
| 3 | g.52452118C>A | CA353168028 | TNNC1 | c.190G>T (p.Val64Leu) c.58G>T (p.Val20Leu) | |
| 3 | g.52452118C>G | CA353168024 | TNNC1 | c.190G>C (p.Val64Leu) c.58G>C (p.Val20Leu) | |
| 3 | g.52452118C>T | CA353168021 | TNNC1 | c.190G>A (p.Val64Met) c.58G>A (p.Val20Met) | |
| 3 | g.52452119C>A | CA349665 | TNNC1 | c.189G>T (p.Glu63Asp) c.57G>T (p.Glu19Asp) | ClinVar dbSNP |
| 3 | g.52452119C= | CA1364863968 | TNNC1 | c.189G= (p.Glu63=) c.57G= (p.Glu19=) | |
| 3 | g.52452119C>G | CA353168072 | TNNC1 | c.189G>C (p.Glu63Asp) c.57G>C (p.Glu19Asp) | ClinVar dbSNP |
| 3 | g.52452119C>T | CA433886780 | TNNC1 | c.189G>A (p.Glu63=) c.57G>A (p.Glu19=) | |
| 3 | g.52452120T>A | CA353168074 | TNNC1 | c.188A>T (p.Glu63Val) c.56A>T (p.Glu19Val) | |
| 3 | g.52452120T>C | CA353168082 | TNNC1 | c.188A>G (p.Glu63Gly) c.56A>G (p.Glu19Gly) | |
| 3 | g.52452120T>G | CA353168079 | TNNC1 | c.188A>C (p.Glu63Ala) c.56A>C (p.Glu19Ala) | ClinVar |
| 3 | g.52452121C>A | CA353168089 | TNNC1 | c.187G>T (p.Glu63Ter) c.55G>T (p.Glu19Ter) | |
| 3 | g.52452121C= | CA1364863969 | TNNC1 | c.187G= (p.Glu63=) c.55G= (p.Glu19=) | |
| 3 | g.52452121C>G | CA353168094 | TNNC1 | c.187G>C (p.Glu63Gln) c.55G>C (p.Glu19Gln) | |
| 3 | g.52452121C>T | CA353168097 | TNNC1 | c.187G>A (p.Glu63Lys) c.55G>A (p.Glu19Lys) | |
| 3 | g.52452122A= | CA1364863970 | TNNC1 | c.186T= (p.Asp62=) c.54T= (p.Asp18=) | |
| 3 | g.52452122A>C | CA353168102 | TNNC1 | c.186T>G (p.Asp62Glu) c.54T>G (p.Asp18Glu) | ClinVar dbSNP |
| 3 | g.52452122A>G | CA433886783 | TNNC1 | c.186T>C (p.Asp62=) c.54T>C (p.Asp18=) | dbSNP |
| 3 | g.52452122A>T | CA353168106 | TNNC1 | c.186T>A (p.Asp62Glu) c.54T>A (p.Asp18Glu) | ClinVar dbSNP |
| 3 | g.52452122_52452129dup | CA543056822 | TNNC1 | c.179_186dup (p.Glu63Ter) c.47_54dup (p.Glu19Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52452123T>A | CA353168111 | TNNC1 | c.185A>T (p.Asp62Val) c.53A>T (p.Asp18Val) | |
| 3 | g.52452123T>C | CA353168123 | TNNC1 | c.185A>G (p.Asp62Gly) c.53A>G (p.Asp18Gly) | |
| 3 | g.52452123T>G | CA353168129 | TNNC1 | c.185A>C (p.Asp62Ala) c.53A>C (p.Asp18Ala) | |
| 3 | g.52452124C>A | CA353168132 | TNNC1 | c.184G>T (p.Asp62Tyr) c.52G>T (p.Asp18Tyr) | ClinVar |
| 3 | g.52452124C= | CA1364863971 | TNNC1 | c.184G= (p.Asp62=) c.52G= (p.Asp18=) | |
| 3 | g.52452124C>G | CA353168133 | TNNC1 | c.184G>C (p.Asp62His) c.52G>C (p.Asp18His) | dbSNP |
| 3 | g.52452124C>T | CA74776012 | TNNC1 | c.184G>A (p.Asp62Asn) c.52G>A (p.Asp18Asn) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52452125G>A | CA2438576 | TNNC1 | c.183C>T (p.Ile61=) c.51C>T (p.Ile17=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52452125G>C | CA353168135 | TNNC1 | c.183C>G (p.Ile61Met) c.51C>G (p.Ile17Met) | ClinVar gnomAD v4 |
| 3 | g.52452125G= | CA1364863972 | TNNC1 | c.183C= (p.Ile61=) c.51C= (p.Ile17=) | |
| 3 | g.52452125G>T | CA433886785 | TNNC1 | c.183C>A (p.Ile61=) c.51C>A (p.Ile17=) | gnomAD v4 |
| 3 | g.52452126A>C | CA353168137 | TNNC1 | c.182T>G (p.Ile61Ser) c.50T>G (p.Ile17Ser) | |
| 3 | g.52452126A>G | CA353168145 | TNNC1 | c.182T>C (p.Ile61Thr) c.50T>C (p.Ile17Thr) | |
| 3 | g.52452126A>T | CA353168140 | TNNC1 | c.182T>A (p.Ile61Asn) c.50T>A (p.Ile17Asn) | |
| 3 | g.52452127T>A | CA353168184 | TNNC1 | c.181A>T (p.Ile61Phe) c.49A>T (p.Ile17Phe) | |
| 3 | g.52452127T>C | CA353168193 | TNNC1 | c.181A>G (p.Ile61Val) c.49A>G (p.Ile17Val) | |
| 3 | g.52452127T>G | CA353168211 | TNNC1 | c.181A>C (p.Ile61Leu) c.49A>C (p.Ile17Leu) | |
| 3 | g.52452128C>A | CA353168216 | TNNC1 | c.180G>T (p.Met60Ile) c.48G>T (p.Met16Ile) | |
| 3 | g.52452128C= | CA1364863973 | TNNC1 | c.180G= (p.Met60=) c.48G= (p.Met16=) | |
| 3 | g.52452128C>G | CA353168217 | TNNC1 | c.180G>C (p.Met60Ile) c.48G>C (p.Met16Ile) | |
| 3 | g.52452128C>T | CA353168219 | TNNC1 | c.180G>A (p.Met60Ile) c.48G>A (p.Met16Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52452129A>C | CA353168222 | TNNC1 | c.179T>G (p.Met60Arg) c.47T>G (p.Met16Arg) | |
| 3 | g.52452129A>G | CA353168223 | TNNC1 | c.179T>C (p.Met60Thr) c.47T>C (p.Met16Thr) | |
| 3 | g.52452129A>T | CA353168224 | TNNC1 | c.179T>A (p.Met60Lys) c.47T>A (p.Met16Lys) | |
| 3 | g.52452130T>A | CA353168231 | TNNC1 | c.178A>T (p.Met60Leu) c.46A>T (p.Met16Leu) | |
| 3 | g.52452130T>C | CA353168227 | TNNC1 | c.178A>G (p.Met60Val) c.46A>G (p.Met16Val) | |
| 3 | g.52452130T>G | CA353168225 | TNNC1 | c.178A>C (p.Met60Leu) c.46A>C (p.Met16Leu) | |
| 3 | g.52452131C>A | CA353168233 | TNNC1 | c.177G>T (p.Glu59Asp) c.45G>T (p.Glu15Asp) | |
| 3 | g.52452131C>G | CA353168234 | TNNC1 | c.177G>C (p.Glu59Asp) c.45G>C (p.Glu15Asp) | |
| 3 | g.52452131C>T | CA433886789 | TNNC1 | c.177G>A (p.Glu59=) c.45G>A (p.Glu15=) | gnomAD v4 |
| 3 | g.52452132T>A | CA353168237 | TNNC1 | c.176A>T (p.Glu59Val) c.44A>T (p.Glu15Val) | |
| 3 | g.52452132T>C | CA353168238 | TNNC1 | c.176A>G (p.Glu59Gly) c.44A>G (p.Glu15Gly) | |
| 3 | g.52452132T>G | CA353168243 | TNNC1 | c.176A>C (p.Glu59Ala) c.44A>C (p.Glu15Ala) | |
| 3 | g.52452132T= | CA1364863974 | TNNC1 | c.176A= (p.Glu59=) c.44A= (p.Glu15=) | |
| 3 | g.52452133C>A | CA353168248 | TNNC1 | c.175G>T (p.Glu59Ter) c.43G>T (p.Glu15Ter) | |
| 3 | g.52452133C>G | CA353168251 | TNNC1 | c.175G>C (p.Glu59Gln) c.43G>C (p.Glu15Gln) | |
| 3 | g.52452133C>T | CA353168254 | TNNC1 | c.175G>A (p.Glu59Lys) c.43G>A (p.Glu15Lys) | ClinVar |
| 3 | g.52452134dup | CA16611462 | TNNC1 | c.175dup (p.Glu59GlyfsTer5) c.43dup (p.Glu15GlyfsTer5) | ClinVar dbSNP |
| 3 | g.52452134C>A | CA353168255 | TNNC1 | c.174G>T (p.Gln58His) c.42G>T (p.Gln14His) | |
| 3 | g.52452134C>G | CA353168259 | TNNC1 | c.174G>C (p.Gln58His) c.42G>C (p.Gln14His) | |
| 3 | g.52452134C>T | CA433886790 | TNNC1 | c.174G>A (p.Gln58=) c.42G>A (p.Gln14=) | |
| 3 | g.52452135T>A | CA353168263 | TNNC1 | c.173A>T (p.Gln58Leu) c.41A>T (p.Gln14Leu) | |
| 3 | g.52452135T>C | CA353168265 | TNNC1 | c.173A>G (p.Gln58Arg) c.41A>G (p.Gln14Arg) | |
| 3 | g.52452135T>G | CA353168271 | TNNC1 | c.173A>C (p.Gln58Pro) c.41A>C (p.Gln14Pro) | |
| 3 | g.52452136G>A | CA353168277 | TNNC1 | c.172C>T (p.Gln58Ter) c.40C>T (p.Gln14Ter) | |
| 3 | g.52452136G>C | CA353168292 | TNNC1 | c.172C>G (p.Gln58Glu) c.40C>G (p.Gln14Glu) | |
| 3 | g.52452136G>T | CA353168280 | TNNC1 | c.172C>A (p.Gln58Lys) c.40C>A (p.Gln14Lys) | |
| 3 | g.52452137C>A | CA433886793 | TNNC1 | c.171G>T (p.Leu57=) c.39G>T (p.Leu13=) | |
| 3 | g.52452137C= | CA1364863975 | TNNC1 | c.171G= (p.Leu57=) c.39G= (p.Leu13=) | |
| 3 | g.52452137C>G | CA433886794 | TNNC1 | c.171G>C (p.Leu57=) c.39G>C (p.Leu13=) | |
| 3 | g.52452137C>T | CA433886795 | TNNC1 | c.171G>A (p.Leu57=) c.39G>A (p.Leu13=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52452138A>C | CA353168305 | TNNC1 | c.170T>G (p.Leu57Arg) c.38T>G (p.Leu13Arg) | |
| 3 | g.52452138A>G | CA353168307 | TNNC1 | c.170T>C (p.Leu57Pro) c.38T>C (p.Leu13Pro) | |
| 3 | g.52452138A>T | CA353168320 | TNNC1 | c.170T>A (p.Leu57Gln) c.38T>A (p.Leu13Gln) | |
| 3 | g.52452139G>A | CA433886797 | TNNC1 | c.169C>T (p.Leu57=) c.37C>T (p.Leu13=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52452139G>C | CA353168325 | TNNC1 | c.169C>G (p.Leu57Val) c.37C>G (p.Leu13Val) | |
| 3 | g.52452139G>T | CA353168329 | TNNC1 | c.169C>A (p.Leu57Met) c.37C>A (p.Leu13Met) | |
| 3 | g.52452140C>A | CA353168335 | TNNC1 | c.168G>T (p.Glu56Asp) c.36G>T (p.Glu12Asp) | |
| 3 | g.52452140C= | CA1364863976 | TNNC1 | c.168G= (p.Glu56=) c.36G= (p.Glu12=) | |
| 3 | g.52452140C>G | CA353168338 | TNNC1 | c.168G>C (p.Glu56Asp) c.36G>C (p.Glu12Asp) | ClinVar dbSNP |
| 3 | g.52452140C>T | CA2438577 | TNNC1 | c.168G>A (p.Glu56=) c.36G>A (p.Glu12=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.52452141T>A | CA353168366 | TNNC1 | c.167A>T (p.Glu56Val) c.35A>T (p.Glu12Val) | |
| 3 | g.52452141T>C | CA353168376 | TNNC1 | c.167A>G (p.Glu56Gly) c.35A>G (p.Glu12Gly) | |
| 3 | g.52452141T>G | CA353168379 | TNNC1 | c.167A>C (p.Glu56Ala) c.35A>C (p.Glu12Ala) | |
| 3 | g.52452142C>A | CA353168389 | TNNC1 | c.166G>T (p.Glu56Ter) c.34G>T (p.Glu12Ter) | |
| 3 | g.52452142C>G | CA353168390 | TNNC1 | c.166G>C (p.Glu56Gln) c.34G>C (p.Glu12Gln) | |
| 3 | g.52452142C>T | CA353168384 | TNNC1 | c.166G>A (p.Glu56Lys) c.34G>A (p.Glu12Lys) | COSMIC |
| 3 | g.52452143C>A | CA353168399 | TNNC1 | c.165G>T (p.Glu55Asp) c.33G>T (p.Glu11Asp) | |
| 3 | g.52452143C= | CA1364863977 | TNNC1 | c.165G= (p.Glu55=) c.33G= (p.Glu11=) | |
| 3 | g.52452143C>G | CA353168394 | TNNC1 | c.165G>C (p.Glu55Asp) c.33G>C (p.Glu11Asp) | dbSNP gnomAD v4 |
| 3 | g.52452143C>T | CA433886798 | TNNC1 | c.165G>A (p.Glu55=) c.33G>A (p.Glu11=) | |
| 3 | g.52452144T>A | CA353168411 | TNNC1 | c.164A>T (p.Glu55Val) c.32A>T (p.Glu11Val) | |
| 3 | g.52452144T>C | CA353168413 | TNNC1 | c.164A>G (p.Glu55Gly) c.32A>G (p.Glu11Gly) | |
| 3 | g.52452144T>G | CA353168416 | TNNC1 | c.164A>C (p.Glu55Ala) c.32A>C (p.Glu11Ala) | gnomAD v4 |
| 3 | g.52452145C>A | CA353168420 | TNNC1 | c.163G>T (p.Glu55Ter) c.31G>T (p.Glu11Ter) | |
| 3 | g.52452145C>G | CA353168423 | TNNC1 | c.163G>C (p.Glu55Gln) c.31G>C (p.Glu11Gln) | |
| 3 | g.52452145C>T | CA353168438 | TNNC1 | c.163G>A (p.Glu55Lys) c.31G>A (p.Glu11Lys) | ClinVar |
| 3 | g.52452145_52452146delinsCA | CA1364863978 | TNNC1 | c.162_163delinsTG (p.Pro54=) c.30_31delinsTG (p.Pro10=) | |
| 3 | g.52452146del | CA2438578 | TNNC1 | c.162del (p.Glu55ArgfsTer6) c.30del (p.Glu11ArgfsTer6) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.52452146A>C | CA433886802 | TNNC1 | c.162T>G (p.Pro54=) c.30T>G (p.Pro10=) | |
| 3 | g.52452146A>G | CA433886801 | TNNC1 | c.162T>C (p.Pro54=) c.30T>C (p.Pro10=) | ClinVar dbSNP |
| 3 | g.52452146A>T | CA433886800 | TNNC1 | c.162T>A (p.Pro54=) c.30T>A (p.Pro10=) | |
| 3 | g.52452147G>A | CA353168449 | TNNC1 | c.161C>T (p.Pro54Leu) c.29C>T (p.Pro10Leu) | |
| 3 | g.52452147G>C | CA353168452 | TNNC1 | c.161C>G (p.Pro54Arg) c.29C>G (p.Pro10Arg) | |
| 3 | g.52452147G= | CA1364863979 | TNNC1 | c.161C= (p.Pro54=) c.29C= (p.Pro10=) | |
| 3 | g.52452147G>T | CA10581146 | TNNC1 | c.161C>A (p.Pro54His) c.29C>A (p.Pro10His) | ClinVar dbSNP |
| 3 | g.52452148G>A | CA353168478 | TNNC1 | c.160C>T (p.Pro54Ser) c.28C>T (p.Pro10Ser) | |
| 3 | g.52452148G>C | CA353168495 | TNNC1 | c.160C>G (p.Pro54Ala) c.28C>G (p.Pro10Ala) | |
| 3 | g.52452148G>T | CA353168500 | TNNC1 | c.160C>A (p.Pro54Thr) c.28C>A (p.Pro10Thr) | |
| 3 | g.52452149G>A | CA433886805 | TNNC1 | c.159C>T (p.Thr53=) c.27C>T (p.Thr9=) | |
| 3 | g.52452149G>C | CA433886804 | TNNC1 | c.159C>G (p.Thr53=) c.27C>G (p.Thr9=) | |
| 3 | g.52452149G= | CA1364863980 | TNNC1 | c.159C= (p.Thr53=) c.27C= (p.Thr9=) | |
| 3 | g.52452149G>T | CA433886803 | TNNC1 | c.159C>A (p.Thr53=) c.27C>A (p.Thr9=) | dbSNP |
| 3 | g.52452150G>A | CA353168506 | TNNC1 | c.158C>T (p.Thr53Ile) c.26C>T (p.Thr9Ile) | ClinVar |
| 3 | g.52452150G>C | CA353168512 | TNNC1 | c.158C>G (p.Thr53Ser) c.26C>G (p.Thr9Ser) | |
| 3 | g.52452150G>T | CA353168510 | TNNC1 | c.158C>A (p.Thr53Asn) c.26C>A (p.Thr9Asn) | ClinVar |
| 3 | g.52452151T>A | CA353168518 | TNNC1 | c.157A>T (p.Thr53Ser) c.25A>T (p.Thr9Ser) | |
| 3 | g.52452151T>C | CA353168547 | TNNC1 | c.157A>G (p.Thr53Ala) c.25A>G (p.Thr9Ala) | ClinVar dbSNP |
| 3 | g.52452151T>G | CA353168549 | TNNC1 | c.157A>C (p.Thr53Pro) c.25A>C (p.Thr9Pro) | |
| 3 | g.52452151T= | CA1364863981 | TNNC1 | c.157A= (p.Thr53=) c.25A= (p.Thr9=) |