Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.3660170_3660172del | CA2635424465 | CTNS | c.971-66_971-64del (n.971-66_971-64del) c.218-66_218-64del (n.218-66_218-64del) c.530-66_530-64del (n.530-66_530-64del) | gnomAD v4 |
17 | g.3660171A= | CA2243978840 | CTNS | c.971-65A= (n.971-65A=) c.218-65A= (n.218-65A=) c.530-65A= (n.530-65A=) | |
17 | g.3660171A>G | CA980872080 | CTNS | c.971-65A>G (n.971-65A>G) c.218-65A>G (n.218-65A>G) c.530-65A>G (n.530-65A>G) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.3660172C= | CA2243978841 | CTNS | c.971-64C= (n.971-64C=) c.218-64C= (n.218-64C=) c.530-64C= (n.530-64C=) | |
17 | g.3660172C>T | CA2243978842 | CTNS | c.971-64C>T (n.971-64C>T) c.218-64C>T (n.218-64C>T) c.530-64C>T (n.530-64C>T) | dbSNP |
17 | g.3660175G>C | CA2635424466 | CTNS | c.971-61G>C (n.971-61G>C) c.218-61G>C (n.218-61G>C) c.530-61G>C (n.530-61G>C) | gnomAD v4 |
17 | g.3660176C= | CA2243978843 | CTNS | c.971-60C= (n.971-60C=) c.218-60C= (n.218-60C=) c.530-60C= (n.530-60C=) | |
17 | g.3660176C>T | CA728450978 | CTNS | c.971-60C>T (n.971-60C>T) c.218-60C>T (n.218-60C>T) c.530-60C>T (n.530-60C>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.3660177T>A | CA728450981 | CTNS | c.971-59T>A (n.971-59T>A) c.218-59T>A (n.218-59T>A) c.530-59T>A (n.530-59T>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.3660177T>C | CA2635424467 | CTNS | c.971-59T>C (n.971-59T>C) c.218-59T>C (n.218-59T>C) c.530-59T>C (n.530-59T>C) | gnomAD v4 |
17 | g.3660177T= | CA2243978845 | CTNS | c.971-59T= (n.971-59T=) c.218-59T= (n.218-59T=) c.530-59T= (n.530-59T=) | |
17 | g.3660179C>T | CA2635424468 | CTNS | c.971-57C>T (n.971-57C>T) c.218-57C>T (n.218-57C>T) c.530-57C>T (n.530-57C>T) | gnomAD v4 |
17 | g.3660181G>C | CA728450983 | CTNS | c.971-55G>C (n.971-55G>C) c.218-55G>C (n.218-55G>C) c.530-55G>C (n.530-55G>C) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.3660181G= | CA2243978846 | CTNS | c.971-55G= (n.971-55G=) c.218-55G= (n.218-55G=) c.530-55G= (n.530-55G=) | |
17 | g.3660181_3660205delinsGCTGCCTCAGGAGCTGCCAACCTAA | CA2243978847 | CTNS | c.971-55_971-31delinsGCTGCCTCAGGAGCTGCCAACCTAA (n.971-55_971-31delinsGCTGCCTCAGGAGCTGCCAACCTAA) c.218-55_218-31delinsGCTGCCTCAGGAGCTGCCAACCTAA (n.218-55_218-31delinsGCTGCCTCAGGAGCTGCCAACCTAA) c.530-55_530-31delinsGCTGCCTCAGGAGCTGCCAACCTAA (n.530-55_530-31delinsGCTGCCTCAGGAGCTGCCAACCTAA) | |
17 | g.3660182C>G | CA2635424469 | CTNS | c.971-54C>G (n.971-54C>G) c.218-54C>G (n.218-54C>G) c.530-54C>G (n.530-54C>G) | gnomAD v4 |
17 | g.3660183_3660206del | CA980872084 | CTNS | c.971-53_971-30del (n.971-53_971-30del) c.218-53_218-30del (n.218-53_218-30del) c.530-53_530-30del (n.530-53_530-30del) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.3660184G>A | CA728450998 | CTNS | c.971-52G>A (n.971-52G>A) c.218-52G>A (n.218-52G>A) c.530-52G>A (n.530-52G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.3660184G>C | CA287022222 | CTNS | c.971-52G>C (n.971-52G>C) c.218-52G>C (n.218-52G>C) c.530-52G>C (n.530-52G>C) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.3660184G= | CA2243978849 | CTNS | c.971-52G= (n.971-52G=) c.218-52G= (n.218-52G=) c.530-52G= (n.530-52G=) | |
17 | g.3660188C>T | CA2733023835 | CTNS | c.971-48C>T (n.971-48C>T) c.218-48C>T (n.218-48C>T) c.530-48C>T (n.530-48C>T) | dbSNP |
17 | g.3660188_3660189insT | CA2635424470 | CTNS | c.971-48_971-47insT (n.971-48_971-47insT) c.218-48_218-47insT (n.218-48_218-47insT) c.530-48_530-47insT (n.530-48_530-47insT) | gnomAD v4 |
17 | g.3660189A= | CA2243978850 | CTNS | c.971-47A= (n.971-47A=) c.218-47A= (n.218-47A=) c.530-47A= (n.530-47A=) | |
17 | g.3660189A>G | CA2243978851 | CTNS | c.971-47A>G (n.971-47A>G) c.218-47A>G (n.218-47A>G) c.530-47A>G (n.530-47A>G) | dbSNP |
17 | g.3660189A>T | CA2635424471 | CTNS | c.971-47A>T (n.971-47A>T) c.218-47A>T (n.218-47A>T) c.530-47A>T (n.530-47A>T) | gnomAD v4 |
17 | g.3660193G>A | CA624850994 | CTNS | c.971-43G>A (n.971-43G>A) c.218-43G>A (n.218-43G>A) c.530-43G>A (n.530-43G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3660193G= | CA2243978853 | CTNS | c.971-43G= (n.971-43G=) c.218-43G= (n.218-43G=) c.530-43G= (n.530-43G=) | |
17 | g.3660193G>T | CA8291987 | CTNS | c.971-43G>T (n.971-43G>T) c.218-43G>T (n.218-43G>T) c.530-43G>T (n.530-43G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3660196G>A | CA624850995 | CTNS | c.971-40G>A (n.971-40G>A) c.218-40G>A (n.218-40G>A) c.530-40G>A (n.530-40G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.3660196G>C | CA728451007 | CTNS | c.971-40G>C (n.971-40G>C) c.218-40G>C (n.218-40G>C) c.530-40G>C (n.530-40G>C) | dbSNP |
17 | g.3660196G= | CA2243978857 | CTNS | c.971-40G= (n.971-40G=) c.218-40G= (n.218-40G=) c.530-40G= (n.530-40G=) | |
17 | g.3660198C>G | CA2635424472 | CTNS | c.971-38C>G (n.971-38C>G) c.218-38C>G (n.218-38C>G) c.530-38C>G (n.530-38C>G) | gnomAD v4 |
17 | g.3660198C>T | CA2576123953 | CTNS | c.971-38C>T (n.971-38C>T) c.218-38C>T (n.218-38C>T) c.530-38C>T (n.530-38C>T) | gnomAD v4 |
17 | g.3660200A= | CA2243978859 | CTNS | c.971-36A= (n.971-36A=) c.218-36A= (n.218-36A=) c.530-36A= (n.530-36A=) | |
17 | g.3660200A>C | CA2576123954 | CTNS | c.971-36A>C (n.971-36A>C) c.218-36A>C (n.218-36A>C) c.530-36A>C (n.530-36A>C) | gnomAD v4 |
17 | g.3660200A>G | CA8291988 | CTNS | c.971-36A>G (n.971-36A>G) c.218-36A>G (n.218-36A>G) c.530-36A>G (n.530-36A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3660200A>T | CA2635424473 | CTNS | c.971-36A>T (n.971-36A>T) c.218-36A>T (n.218-36A>T) c.530-36A>T (n.530-36A>T) | gnomAD v4 |
17 | g.3660201C= | CA2243978863 | CTNS | c.971-35C= (n.971-35C=) c.218-35C= (n.218-35C=) c.530-35C= (n.530-35C=) | |
17 | g.3660201C>G | CA2635424474 | CTNS | c.971-35C>G (n.971-35C>G) c.218-35C>G (n.218-35C>G) c.530-35C>G (n.530-35C>G) | gnomAD v4 |
17 | g.3660201C>T | CA287022227 | CTNS | c.971-35C>T (n.971-35C>T) c.218-35C>T (n.218-35C>T) c.530-35C>T (n.530-35C>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.3660203T>G | CA2635424475 | CTNS | c.971-33T>G (n.971-33T>G) c.218-33T>G (n.218-33T>G) c.530-33T>G (n.530-33T>G) | gnomAD v4 |
17 | g.3660203dup | CA2635424476 | CTNS | c.971-33dup (n.971-33dup) c.218-33dup (n.218-33dup) c.530-33dup (n.530-33dup) | gnomAD v4 |
17 | g.3660204A= | CA2243978864 | CTNS | c.971-32A= (n.971-32A=) c.218-32A= (n.218-32A=) c.530-32A= (n.530-32A=) | |
17 | g.3660204A>C | CA287022230 | CTNS | c.971-32A>C (n.971-32A>C) c.218-32A>C (n.218-32A>C) c.530-32A>C (n.530-32A>C) | dbSNP |
17 | g.3660206C>A | CA2635424477 | CTNS | c.971-30C>A (n.971-30C>A) c.218-30C>A (n.218-30C>A) c.530-30C>A (n.530-30C>A) | gnomAD v4 |
17 | g.3660206C= | CA2243978866 | CTNS | c.971-30C= (n.971-30C=) c.218-30C= (n.218-30C=) c.530-30C= (n.530-30C=) | |
17 | g.3660206C>T | CA2243978867 | CTNS | c.971-30C>T (n.971-30C>T) c.218-30C>T (n.218-30C>T) c.530-30C>T (n.530-30C>T) | dbSNP |
17 | g.3660207A= | CA2243978870 | CTNS | c.971-29A= (n.971-29A=) c.218-29A= (n.218-29A=) c.530-29A= (n.530-29A=) | |
17 | g.3660207A>G | CA287022236 | CTNS | c.971-29A>G (n.971-29A>G) c.218-29A>G (n.218-29A>G) c.530-29A>G (n.530-29A>G) | dbSNP |
17 | g.3660207A>T | CA2808251532 | CTNS | c.971-29A>T (n.971-29A>T) c.218-29A>T (n.218-29A>T) c.530-29A>T (n.530-29A>T) | |
17 | g.3660208C>A | CA2576123956 | CTNS | c.971-28C>A (n.971-28C>A) c.218-28C>A (n.218-28C>A) c.530-28C>A (n.530-28C>A) | gnomAD v4 |
17 | g.3660208C>T | CA2635424478 | CTNS | c.971-28C>T (n.971-28C>T) c.218-28C>T (n.218-28C>T) c.530-28C>T (n.530-28C>T) | gnomAD v4 |
17 | g.3660209del | CA2576123955 | CTNS | c.971-27del (n.971-27del) c.218-27del (n.218-27del) c.530-27del (n.530-27del) | gnomAD v4 |
17 | g.3660211G>A | CA2243978874 | CTNS | c.971-25G>A (n.971-25G>A) c.218-25G>A (n.218-25G>A) c.530-25G>A (n.530-25G>A) | dbSNP gnomAD v4 |
17 | g.3660211G>C | CA728451020 | CTNS | c.971-25G>C (n.971-25G>C) c.218-25G>C (n.218-25G>C) c.530-25G>C (n.530-25G>C) | dbSNP gnomAD v4 |
17 | g.3660211G= | CA2243978873 | CTNS | c.971-25G= (n.971-25G=) c.218-25G= (n.218-25G=) c.530-25G= (n.530-25G=) | |
17 | g.3660213T>C | CA8291989 | CTNS | c.971-23T>C (n.971-23T>C) c.218-23T>C (n.218-23T>C) c.530-23T>C (n.530-23T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3660213T= | CA2243978876 | CTNS | c.971-23T= (n.971-23T=) c.218-23T= (n.218-23T=) c.530-23T= (n.530-23T=) | |
17 | g.3660214T>A | CA8291990 | CTNS | c.971-22T>A (n.971-22T>A) c.218-22T>A (n.218-22T>A) c.530-22T>A (n.530-22T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.3660214T= | CA2243978877 | CTNS | c.971-22T= (n.971-22T=) c.218-22T= (n.218-22T=) c.530-22T= (n.530-22T=) | |
17 | g.3660215C= | CA2243978878 | CTNS | c.971-21C= (n.971-21C=) c.218-21C= (n.218-21C=) c.530-21C= (n.530-21C=) | |
17 | g.3660215C>G | CA8291991 | CTNS | c.971-21C>G (n.971-21C>G) c.218-21C>G (n.218-21C>G) c.530-21C>G (n.530-21C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.3660215C>T | CA2243978880 | CTNS | c.971-21C>T (n.971-21C>T) c.218-21C>T (n.218-21C>T) c.530-21C>T (n.530-21C>T) | dbSNP |
17 | g.3660216T>C | CA2635424480 | CTNS | c.971-20T>C (n.971-20T>C) c.218-20T>C (n.218-20T>C) c.530-20T>C (n.530-20T>C) | gnomAD v4 |
17 | g.3660217G= | CA2243978882 | CTNS | c.971-19G= (n.971-19G=) c.218-19G= (n.218-19G=) c.530-19G= (n.530-19G=) | |
17 | g.3660217G>T | CA8291992 | CTNS | c.971-19G>T (n.971-19G>T) c.218-19G>T (n.218-19G>T) c.530-19G>T (n.530-19G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.3660218T>C | CA2243978884 | CTNS | c.971-18T>C (n.971-18T>C) c.218-18T>C (n.218-18T>C) c.530-18T>C (n.530-18T>C) | dbSNP |
17 | g.3660218T= | CA2243978883 | CTNS | c.971-18T= (n.971-18T=) c.218-18T= (n.218-18T=) c.530-18T= (n.530-18T=) | |
17 | g.3660219C= | CA2243978886 | CTNS | c.971-17C= (n.971-17C=) c.218-17C= (n.218-17C=) c.530-17C= (n.530-17C=) | |
17 | g.3660219C>G | CA2635424483 | CTNS | c.971-17C>G (n.971-17C>G) c.218-17C>G (n.218-17C>G) c.530-17C>G (n.530-17C>G) | gnomAD v4 |
17 | g.3660219C>T | CA2243978888 | CTNS | c.971-17C>T (n.971-17C>T) c.218-17C>T (n.218-17C>T) c.530-17C>T (n.530-17C>T) | ClinVar dbSNP gnomAD v4 |
17 | g.3660223dup | CA8291993 | CTNS | c.971-13dup (n.971-13dup) c.218-13dup (n.218-13dup) c.530-13dup (n.530-13dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3660223del | CA2635424485 | CTNS | c.971-13del (n.971-13del) c.218-13del (n.218-13del) c.530-13del (n.530-13del) | gnomAD v4 |
17 | g.3660220C= | CA2243978894 | CTNS | c.971-16C= (n.971-16C=) c.218-16C= (n.218-16C=) c.530-16C= (n.530-16C=) | |
17 | g.3660220C>G | CA8291995 | CTNS | c.971-16C>G (n.971-16C>G) c.218-16C>G (n.218-16C>G) c.530-16C>G (n.530-16C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.3660220C>T | CA8291994 | CTNS | c.971-16C>T (n.971-16C>T) c.218-16C>T (n.218-16C>T) c.530-16C>T (n.530-16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.3660221C>T | CA2546201375 | CTNS | c.971-15C>T (n.971-15C>T) c.218-15C>T (n.218-15C>T) c.530-15C>T (n.530-15C>T) | ClinVar gnomAD v4 |
17 | g.3660223C= | CA2243978895 | CTNS | c.971-13C= (n.971-13C=) c.218-13C= (n.218-13C=) c.530-13C= (n.530-13C=) | |
17 | g.3660223C>T | CA8291996 | CTNS | c.971-13C>T (n.971-13C>T) c.218-13C>T (n.218-13C>T) c.530-13C>T (n.530-13C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3660223_3660230delinsCGGCTGCT | CA2243978896 | CTNS | c.971-13_971-6delinsCGGCTGCT (n.971-13_971-6delinsCGGCTGCT) c.218-13_218-6delinsCGGCTGCT (n.218-13_218-6delinsCGGCTGCT) c.530-13_530-6delinsCGGCTGCT (n.530-13_530-6delinsCGGCTGCT) | |
17 | g.3660224G>A | CA8291997 | CTNS | c.971-12G>A (n.971-12G>A) c.218-12G>A (n.218-12G>A) c.530-12G>A (n.530-12G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3660224G>C | CA624850996 | CTNS | c.971-12G>C (n.971-12G>C) c.218-12G>C (n.218-12G>C) c.530-12G>C (n.530-12G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3660224G= | CA2243978898 | CTNS | c.971-12G= (n.971-12G=) c.218-12G= (n.218-12G=) c.530-12G= (n.530-12G=) | |
17 | g.3660224G>T | CA2635424489 | CTNS | c.971-12G>T (n.971-12G>T) c.218-12G>T (n.218-12G>T) c.530-12G>T (n.530-12G>T) | gnomAD v4 |
17 | g.3660224_3660230del | CA624850997 | CTNS | c.971-12_971-6del (n.971-12_971-6del) c.218-12_218-6del (n.218-12_218-6del) c.530-12_530-6del (n.530-12_530-6del) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.3660228_3660230del | CA2580612854 | CTNS | c.971-8_971-6del (n.971-8_971-6del) c.218-8_218-6del (n.218-8_218-6del) c.530-8_530-6del (n.530-8_530-6del) | ClinVar |
17 | g.3660228G>A | CA8291998 | CTNS | c.971-8G>A (n.971-8G>A) c.218-8G>A (n.218-8G>A) c.530-8G>A (n.530-8G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3660228G= | CA2243978902 | CTNS | c.971-8G= (n.971-8G=) c.218-8G= (n.218-8G=) c.530-8G= (n.530-8G=) | |
17 | g.3660230T>G | CA2580093572 | CTNS | c.971-6T>G (n.971-6T>G) c.218-6T>G (n.218-6T>G) c.530-6T>G (n.530-6T>G) | ClinVar |
17 | g.3660231A>G | CA2635424491 | CTNS | c.971-5A>G (n.971-5A>G) c.218-5A>G (n.218-5A>G) c.530-5A>G (n.530-5A>G) | gnomAD v4 |
17 | g.3660231A>T | CA2635424492 | CTNS | c.971-5A>T (n.971-5A>T) c.218-5A>T (n.218-5A>T) c.530-5A>T (n.530-5A>T) | gnomAD v4 |
17 | g.3660231_3660234dup | CA2635424490 | CTNS | c.971-5_971-2dup (n.971-5_971-2dup) c.218-5_218-2dup (n.218-5_218-2dup) c.530-5_530-2dup (n.530-5_530-2dup) | gnomAD v4 |
17 | g.3660233C>T | CA2635424493 | CTNS | c.971-3C>T (n.971-3C>T) c.218-3C>T (n.218-3C>T) c.530-3C>T (n.530-3C>T) | gnomAD v4 |
17 | g.3660234A= | CA2243978905 | CTNS | c.971-2A= (n.971-2A=) c.218-2A= (n.218-2A=) c.530-2A= (n.530-2A=) | |
17 | g.3660234A>C | CA397693958 | CTNS | c.971-2A>C (n.971-2A>C) c.218-2A>C (n.218-2A>C) c.530-2A>C (n.530-2A>C) | |
17 | g.3660234A>G | CA397693959 | CTNS | c.971-2A>G (n.971-2A>G) c.218-2A>G (n.218-2A>G) c.530-2A>G (n.530-2A>G) | |
17 | g.3660234A>T | CA397693961 | CTNS | c.971-2A>T (n.971-2A>T) c.218-2A>T (n.218-2A>T) c.530-2A>T (n.530-2A>T) | |
17 | g.3660234dup | CA913010139 | CTNS | c.971-2dup (n.971-2dup) c.218-2dup (n.218-2dup) c.530-2dup (n.530-2dup) | ClinVar |
17 | g.3660235G>A | CA397693963 | CTNS | c.971-1G>A (n.971-1G>A) c.218-1G>A (n.218-1G>A) c.530-1G>A (n.530-1G>A) | |
17 | g.3660235G>C | CA397693965 | CTNS | c.971-1G>C (n.971-1G>C) c.218-1G>C (n.218-1G>C) c.530-1G>C (n.530-1G>C) | ClinVar dbSNP |
17 | g.3660235G>T | CA397693967 | CTNS | c.971-1G>T (n.971-1G>T) c.218-1G>T (n.218-1G>T) c.530-1G>T (n.530-1G>T) | |
17 | g.3660235dup | CA658823876 | CTNS | c.971-1dup (n.971-1dup) c.218-1dup (n.218-1dup) c.530-1dup (n.530-1dup) | ClinVar dbSNP |
17 | g.3660238_3660245del | CA2580093573 | CTNS | c.973_980del c.220_227del c.532_539del | ClinVar gnomAD v4 |
17 | g.3660236A= | CA2243978908 | CTNS | c.971A= (p.Asp324=) c.218A= (p.Asp73=) c.530A= (p.Asp177=) | |
17 | g.3660236A>C | CA397693969 | CTNS | c.971A>C (p.Asp324Ala) c.218A>C (p.Asp73Ala) c.530A>C (p.Asp177Ala) | |
17 | g.3660236A>G | CA397693973 | CTNS | c.971A>G (p.Asp324Gly) c.218A>G (p.Asp73Gly) c.530A>G (p.Asp177Gly) | |
17 | g.3660236A>T | CA397693971 | CTNS | c.971A>T (p.Asp324Val) c.218A>T (p.Asp73Val) c.530A>T (p.Asp177Val) | |
17 | g.3660237C>A | CA397693975 | CTNS | c.972C>A (p.Asp324Glu) c.219C>A (p.Asp73Glu) c.531C>A (p.Asp177Glu) | gnomAD v4 |
17 | g.3660237C>G | CA397693977 | CTNS | c.972C>G (p.Asp324Glu) c.219C>G (p.Asp73Glu) c.531C>G (p.Asp177Glu) | |
17 | g.3660237C>T | CA497466716 | CTNS | c.972C>T (p.Asp324=) c.219C>T (p.Asp73=) c.531C>T (p.Asp177=) | ClinVar |
17 | g.3660238dup | CA624851000 | CTNS | c.973dup (p.Gln325ProfsTer?) c.220dup (p.Gln74ProfsTer?) c.532dup (p.Gln178ProfsTer?) | dbSNP gnomAD v2 |
17 | g.3660238C>A | CA397693979 | CTNS | c.973C>A (p.Gln325Lys) c.220C>A (p.Gln74Lys) c.532C>A (p.Gln178Lys) | |
17 | g.3660238C>G | CA397693981 | CTNS | c.973C>G (p.Gln325Glu) c.220C>G (p.Gln74Glu) c.532C>G (p.Gln178Glu) | |
17 | g.3660238C>T | CA397693983 | CTNS | c.973C>T (p.Gln325Ter) c.220C>T (p.Gln74Ter) c.532C>T (p.Gln178Ter) | |
17 | g.3660239A>C | CA397693985 | CTNS | c.974A>C (p.Gln325Pro) c.221A>C (p.Gln74Pro) c.533A>C (p.Gln178Pro) | |
17 | g.3660239A>G | CA397693987 | CTNS | c.974A>G (p.Gln325Arg) c.221A>G (p.Gln74Arg) c.533A>G (p.Gln178Arg) | |
17 | g.3660239A>T | CA397693989 | CTNS | c.974A>T (p.Gln325Leu) c.221A>T (p.Gln74Leu) c.533A>T (p.Gln178Leu) | gnomAD v4 |
17 | g.3660240G>A | CA497466717 | CTNS | c.975G>A (p.Gln325=) c.222G>A (p.Gln74=) c.534G>A (p.Gln178=) | ClinVar dbSNP |
17 | g.3660240G>C | CA397693993 | CTNS | c.975G>C (p.Gln325His) c.222G>C (p.Gln74His) c.534G>C (p.Gln178His) | |
17 | g.3660240G= | CA2243978910 | CTNS | c.975G= (p.Gln325=) c.222G= (p.Gln74=) c.534G= (p.Gln178=) | |
17 | g.3660240G>T | CA397693991 | CTNS | c.975G>T (p.Gln325His) c.222G>T (p.Gln74His) c.534G>T (p.Gln178His) | |
17 | g.3660241T>A | CA8291999 | CTNS | c.976T>A (p.Trp326Arg) c.223T>A (p.Trp75Arg) c.535T>A (p.Trp179Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3660241T>C | CA8292000 | CTNS | c.976T>C (p.Trp326Arg) c.223T>C (p.Trp75Arg) c.535T>C (p.Trp179Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3660241T>G | CA397693997 | CTNS | c.976T>G (p.Trp326Gly) c.223T>G (p.Trp75Gly) c.535T>G (p.Trp179Gly) | |
17 | g.3660241T= | CA2243978912 | CTNS | c.976T= (p.Trp326=) c.223T= (p.Trp75=) c.535T= (p.Trp179=) | |
17 | g.3660242G>A | CA397693999 | CTNS | c.977G>A (p.Trp326Ter) c.224G>A (p.Trp75Ter) c.536G>A (p.Trp179Ter) | ClinVar dbSNP |
17 | g.3660242G>C | CA397694001 | CTNS | c.977G>C (p.Trp326Ser) c.224G>C (p.Trp75Ser) c.536G>C (p.Trp179Ser) | |
17 | g.3660242G= | CA2243978913 | CTNS | c.977G= (p.Trp326=) c.224G= (p.Trp75=) c.536G= (p.Trp179=) | |
17 | g.3660242G>T | CA397694002 | CTNS | c.977G>T (p.Trp326Leu) c.224G>T (p.Trp75Leu) c.536G>T (p.Trp179Leu) | |
17 | g.3660243G>A | CA397694003 | CTNS | c.978G>A (p.Trp326Ter) c.225G>A (p.Trp75Ter) c.537G>A (p.Trp179Ter) | |
17 | g.3660243G>C | CA397694007 | CTNS | c.978G>C (p.Trp326Cys) c.225G>C (p.Trp75Cys) c.537G>C (p.Trp179Cys) | |
17 | g.3660243G>T | CA397694005 | CTNS | c.978G>T (p.Trp326Cys) c.225G>T (p.Trp75Cys) c.537G>T (p.Trp179Cys) | |
17 | g.3660244A>C | CA397694010 | CTNS | c.979A>C (p.Thr327Pro) c.226A>C (p.Thr76Pro) c.538A>C (p.Thr180Pro) | |
17 | g.3660244A>G | CA397694012 | CTNS | c.979A>G (p.Thr327Ala) c.226A>G (p.Thr76Ala) c.538A>G (p.Thr180Ala) | |
17 | g.3660244A>T | CA397694013 | CTNS | c.979A>T (p.Thr327Ser) c.226A>T (p.Thr76Ser) c.538A>T (p.Thr180Ser) | gnomAD v4 |
17 | g.3660245C>A | CA397694014 | CTNS | c.980C>A (p.Thr327Lys) c.227C>A (p.Thr76Lys) c.539C>A (p.Thr180Lys) | gnomAD v4 |
17 | g.3660245C= | CA2243978914 | CTNS | c.980C= (p.Thr327=) c.227C= (p.Thr76=) c.539C= (p.Thr180=) | |
17 | g.3660245C>G | CA397694016 | CTNS | c.980C>G (p.Thr327Arg) c.227C>G (p.Thr76Arg) c.539C>G (p.Thr180Arg) | |
17 | g.3660245C>T | CA287022263 | CTNS | c.980C>T (p.Thr327Met) c.227C>T (p.Thr76Met) c.539C>T (p.Thr180Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3660246G>A | CA8292002 | CTNS | c.981G>A (p.Thr327=) c.228G>A (p.Thr76=) c.540G>A (p.Thr180=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3660246G>C | CA497466718 | CTNS | c.981G>C (p.Thr327=) c.228G>C (p.Thr76=) c.540G>C (p.Thr180=) | dbSNP |
17 | g.3660246G= | CA2243978916 | CTNS | c.981G= (p.Thr327=) c.228G= (p.Thr76=) c.540G= (p.Thr180=) | |
17 | g.3660246G>T | CA8292001 | CTNS | c.981G>T (p.Thr327=) c.228G>T (p.Thr76=) c.540G>T (p.Thr180=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.3660247C>A | CA397694021 | CTNS | c.982C>A (p.Leu328Met) c.229C>A (p.Leu77Met) c.541C>A (p.Leu181Met) | |
17 | g.3660247C>G | CA397694023 | CTNS | c.982C>G (p.Leu328Val) c.229C>G (p.Leu77Val) c.541C>G (p.Leu181Val) | ClinVar |
17 | g.3660247C>T | CA497466719 | CTNS | c.982C>T (p.Leu328=) c.229C>T (p.Leu77=) c.541C>T (p.Leu181=) | |
17 | g.3660248T>A | CA397694031 | CTNS | c.983T>A (p.Leu328Gln) c.230T>A (p.Leu77Gln) c.542T>A (p.Leu181Gln) | |
17 | g.3660248T>C | CA397694028 | CTNS | c.983T>C (p.Leu328Pro) c.230T>C (p.Leu77Pro) c.542T>C (p.Leu181Pro) | gnomAD v4 |
17 | g.3660248T>G | CA397694026 | CTNS | c.983T>G (p.Leu328Arg) c.230T>G (p.Leu77Arg) c.542T>G (p.Leu181Arg) | |
17 | g.3660249G>A | CA497466720 | CTNS | c.984G>A (p.Leu328=) c.231G>A (p.Leu77=) c.543G>A (p.Leu181=) | |
17 | g.3660249G>C | CA497466721 | CTNS | c.984G>C (p.Leu328=) c.231G>C (p.Leu77=) c.543G>C (p.Leu181=) | |
17 | g.3660249G>T | CA497466722 | CTNS | c.984G>T (p.Leu328=) c.231G>T (p.Leu77=) c.543G>T (p.Leu181=) | |
17 | g.3660250A>C | CA397694035 | CTNS | c.985A>C (p.Ile329Leu) c.232A>C (p.Ile78Leu) c.544A>C (p.Ile182Leu) | |
17 | g.3660250A>G | CA397694036 | CTNS | c.985A>G (p.Ile329Val) c.232A>G (p.Ile78Val) c.544A>G (p.Ile182Val) | ClinVar |
17 | g.3660250A>T | CA397694038 | CTNS | c.985A>T (p.Ile329Phe) c.232A>T (p.Ile78Phe) c.544A>T (p.Ile182Phe) | |
17 | g.3660251T>A | CA397694040 | CTNS | c.986T>A (p.Ile329Asn) c.233T>A (p.Ile78Asn) c.545T>A (p.Ile182Asn) | |
17 | g.3660251T>C | CA397694041 | CTNS | c.986T>C (p.Ile329Thr) c.233T>C (p.Ile78Thr) c.545T>C (p.Ile182Thr) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.3660251T>G | CA397694043 | CTNS | c.986T>G (p.Ile329Ser) c.233T>G (p.Ile78Ser) c.545T>G (p.Ile182Ser) | |
17 | g.3660251T= | CA2243978918 | CTNS | c.986T= (p.Ile329=) c.233T= (p.Ile78=) c.545T= (p.Ile182=) | |
17 | g.3660252C>A | CA497466723 | CTNS | c.987C>A (p.Ile329=) c.234C>A (p.Ile78=) c.546C>A (p.Ile182=) | |
17 | g.3660252C>G | CA397694045 | CTNS | c.987C>G (p.Ile329Met) c.234C>G (p.Ile78Met) c.546C>G (p.Ile182Met) | |
17 | g.3660252C>T | CA497466724 | CTNS | c.987C>T (p.Ile329=) c.234C>T (p.Ile78=) c.546C>T (p.Ile182=) | ClinVar dbSNP |
17 | g.3660253T>A | CA397694047 | CTNS | c.988T>A (p.Phe330Ile) c.235T>A (p.Phe79Ile) c.547T>A (p.Phe183Ile) | |
17 | g.3660253T>C | CA397694049 | CTNS | c.988T>C (p.Phe330Leu) c.235T>C (p.Phe79Leu) c.547T>C (p.Phe183Leu) | |
17 | g.3660253T>G | CA397694051 | CTNS | c.988T>G (p.Phe330Val) c.235T>G (p.Phe79Val) c.547T>G (p.Phe183Val) | gnomAD v4 |
17 | g.3660254T>A | CA397694053 | CTNS | c.989T>A (p.Phe330Tyr) c.236T>A (p.Phe79Tyr) c.548T>A (p.Phe183Tyr) | |
17 | g.3660254T>C | CA397694054 | CTNS | c.989T>C (p.Phe330Ser) c.236T>C (p.Phe79Ser) c.548T>C (p.Phe183Ser) | |
17 | g.3660254T>G | CA397694056 | CTNS | c.989T>G (p.Phe330Cys) c.236T>G (p.Phe79Cys) c.548T>G (p.Phe183Cys) | |
17 | g.3660255C>A | CA287022275 | CTNS | c.990C>A (p.Phe330Leu) c.237C>A (p.Phe79Leu) c.549C>A (p.Phe183Leu) | dbSNP |
17 | g.3660255C= | CA2243978921 | CTNS | c.990C= (p.Phe330=) c.237C= (p.Phe79=) c.549C= (p.Phe183=) | |
17 | g.3660255C>G | CA397694058 | CTNS | c.990C>G (p.Phe330Leu) c.237C>G (p.Phe79Leu) c.549C>G (p.Phe183Leu) | |
17 | g.3660255C>T | CA8292003 | CTNS | c.990C>T (p.Phe330=) c.237C>T (p.Phe79=) c.549C>T (p.Phe183=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3660256G>A | CA8292004 | CTNS | c.991G>A (p.Gly331Arg) c.238G>A (p.Gly80Arg) c.550G>A (p.Gly184Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3660256G>C | CA397694064 | CTNS | c.991G>C (p.Gly331Arg) c.238G>C (p.Gly80Arg) c.550G>C (p.Gly184Arg) | |
17 | g.3660256G= | CA2243978923 | CTNS | c.991G= (p.Gly331=) c.238G= (p.Gly80=) c.550G= (p.Gly184=) | |
17 | g.3660256G>T | CA397694066 | CTNS | c.991G>T (p.Gly331Ter) c.238G>T (p.Gly80Ter) c.550G>T (p.Gly184Ter) | |
17 | g.3660257del | CA2695224168 | CTNS | c.992del (p.Gly331GlufsTer?) c.239del (p.Gly80GlufsTer?) c.551del (p.Gly184GlufsTer?) | |
17 | g.3660257G>A | CA397694068 | CTNS | c.992G>A (p.Gly331Glu) c.239G>A (p.Gly80Glu) c.551G>A (p.Gly184Glu) | |
17 | g.3660257G>C | CA397694070 | CTNS | c.992G>C (p.Gly331Ala) c.239G>C (p.Gly80Ala) c.551G>C (p.Gly184Ala) | |
17 | g.3660257G= | CA2243978925 | CTNS | c.992G= (p.Gly331=) c.239G= (p.Gly80=) c.551G= (p.Gly184=) | |
17 | g.3660257G>T | CA397694072 | CTNS | c.992G>T (p.Gly331Val) c.239G>T (p.Gly80Val) c.551G>T (p.Gly184Val) | dbSNP gnomAD v4 |
17 | g.3660258A>C | CA497466725 | CTNS | c.993A>C (p.Gly331=) c.240A>C (p.Gly80=) c.552A>C (p.Gly184=) | |
17 | g.3660258A>G | CA497466726 | CTNS | c.993A>G (p.Gly331=) c.240A>G (p.Gly80=) c.552A>G (p.Gly184=) | |
17 | g.3660258A>T | CA497466727 | CTNS | c.993A>T (p.Gly331=) c.240A>T (p.Gly80=) c.552A>T (p.Gly184=) | |
17 | g.3660259G>A | CA397694074 | CTNS | c.994G>A (p.Asp332Asn) c.241G>A (p.Asp81Asn) c.553G>A (p.Asp185Asn) | |
17 | g.3660259G>C | CA397694076 | CTNS | c.994G>C (p.Asp332His) c.241G>C (p.Asp81His) c.553G>C (p.Asp185His) | gnomAD v4 |
17 | g.3660259G>T | CA397694078 | CTNS | c.994G>T (p.Asp332Tyr) c.241G>T (p.Asp81Tyr) c.553G>T (p.Asp185Tyr) | gnomAD v4 |
17 | g.3660260A>C | CA397694080 | CTNS | c.995A>C (p.Asp332Ala) c.242A>C (p.Asp81Ala) c.554A>C (p.Asp185Ala) | gnomAD v4 |
17 | g.3660260A>G | CA397694081 | CTNS | c.995A>G (p.Asp332Gly) c.242A>G (p.Asp81Gly) c.554A>G (p.Asp185Gly) | |
17 | g.3660260A>T | CA397694083 | CTNS | c.995A>T (p.Asp332Val) c.242A>T (p.Asp81Val) c.554A>T (p.Asp185Val) | |
17 | g.3660261C>A | CA397694085 | CTNS | c.996C>A (p.Asp332Glu) c.243C>A (p.Asp81Glu) c.555C>A (p.Asp185Glu) | |
17 | g.3660261C= | CA2243978926 | CTNS | c.996C= (p.Asp332=) c.243C= (p.Asp81=) c.555C= (p.Asp185=) | |
17 | g.3660261C>G | CA8292005 | CTNS | c.996C>G (p.Asp332Glu) c.243C>G (p.Asp81Glu) c.555C>G (p.Asp185Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.3660261C>T | CA497466728 | CTNS | c.996C>T (p.Asp332=) c.243C>T (p.Asp81=) c.555C>T (p.Asp185=) | |
17 | g.3660262C>A | CA397694089 | CTNS | c.997C>A (p.Pro333Thr) c.244C>A (p.Pro82Thr) c.556C>A (p.Pro186Thr) | |
17 | g.3660262C>G | CA397694092 | CTNS | c.997C>G (p.Pro333Ala) c.244C>G (p.Pro82Ala) c.556C>G (p.Pro186Ala) | |
17 | g.3660262C>T | CA397694090 | CTNS | c.997C>T (p.Pro333Ser) c.244C>T (p.Pro82Ser) c.556C>T (p.Pro186Ser) | gnomAD v4 |
17 | g.3660263C>A | CA397694095 | CTNS | c.998C>A (p.Pro333Gln) c.245C>A (p.Pro82Gln) c.557C>A (p.Pro186Gln) | |
17 | g.3660263C>G | CA397694099 | CTNS | c.998C>G (p.Pro333Arg) c.245C>G (p.Pro82Arg) c.557C>G (p.Pro186Arg) | |
17 | g.3660263C>T | CA397694097 | CTNS | c.998C>T (p.Pro333Leu) c.245C>T (p.Pro82Leu) c.557C>T (p.Pro186Leu) | |
17 | g.3660264A>C | CA497466729 | CTNS | c.999A>C (p.Pro333=) c.246A>C (p.Pro82=) c.558A>C (p.Pro186=) | |
17 | g.3660264A>G | CA497466730 | CTNS | c.999A>G (p.Pro333=) c.246A>G (p.Pro82=) c.558A>G (p.Pro186=) | ClinVar |
17 | g.3660264A>T | CA497466731 | CTNS | c.999A>T (p.Pro333=) c.246A>T (p.Pro82=) c.558A>T (p.Pro186=) | |
17 | g.3660265del | CA2573153072 | CTNS | c.1000del (p.Thr334ProfsTer?) c.247del (p.Thr83ProfsTer?) c.559del (p.Thr187ProfsTer?) | ClinVar dbSNP gnomAD v4 |
17 | g.3660265A= | CA2243978927 | CTNS | c.1000A= (p.Thr334=) c.247A= (p.Thr83=) c.559A= (p.Thr187=) | |
17 | g.3660265A>C | CA397694101 | CTNS | c.1000A>C (p.Thr334Pro) c.247A>C (p.Thr83Pro) c.559A>C (p.Thr187Pro) | |
17 | g.3660265A>G | CA397694106 | CTNS | c.1000A>G (p.Thr334Ala) c.247A>G (p.Thr83Ala) c.559A>G (p.Thr187Ala) | dbSNP gnomAD v4 |
17 | g.3660265A>T | CA397694103 | CTNS | c.1000A>T (p.Thr334Ser) c.247A>T (p.Thr83Ser) c.559A>T (p.Thr187Ser) | |
17 | g.3660266C>A | CA397694109 | CTNS | c.1001C>A (p.Thr334Asn) c.248C>A (p.Thr83Asn) c.560C>A (p.Thr187Asn) | |
17 | g.3660266C= | CA2243978930 | CTNS | c.1001C= (p.Thr334=) c.248C= (p.Thr83=) c.560C= (p.Thr187=) | |
17 | g.3660266C>G | CA397694111 | CTNS | c.1001C>G (p.Thr334Ser) c.248C>G (p.Thr83Ser) c.560C>G (p.Thr187Ser) | |
17 | g.3660266C>T | CA8292006 | CTNS | c.1001C>T (p.Thr334Ile) c.248C>T (p.Thr83Ile) c.560C>T (p.Thr187Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.3660267C>A | CA497466734 | CTNS | c.1002C>A (p.Thr334=) c.249C>A (p.Thr83=) c.561C>A (p.Thr187=) | |
17 | g.3660267C= | CA2243978931 | CTNS | c.1002C= (p.Thr334=) c.249C= (p.Thr83=) c.561C= (p.Thr187=) | |
17 | g.3660267C>G | CA497466733 | CTNS | c.1002C>G (p.Thr334=) c.249C>G (p.Thr83=) c.561C>G (p.Thr187=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.3660267C>T | CA497466732 | CTNS | c.1002C>T (p.Thr334=) c.249C>T (p.Thr83=) c.561C>T (p.Thr187=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.3660268A>C | CA397694113 | CTNS | c.1003A>C (p.Lys335Gln) c.250A>C (p.Lys84Gln) c.562A>C (p.Lys188Gln) | gnomAD v4 |
17 | g.3660268A>G | CA397694115 | CTNS | c.1003A>G (p.Lys335Glu) c.250A>G (p.Lys84Glu) c.562A>G (p.Lys188Glu) | dbSNP |
17 | g.3660268A>T | CA397694117 | CTNS | c.1003A>T (p.Lys335Ter) c.250A>T (p.Lys84Ter) c.562A>T (p.Lys188Ter) | |
17 | g.3660269A>C | CA397694119 | CTNS | c.1004A>C (p.Lys335Thr) c.251A>C (p.Lys84Thr) c.563A>C (p.Lys188Thr) | |
17 | g.3660269A>G | CA397694120 | CTNS | c.1004A>G (p.Lys335Arg) c.251A>G (p.Lys84Arg) c.563A>G (p.Lys188Arg) | |
17 | g.3660269A>T | CA397694122 | CTNS | c.1004A>T (p.Lys335Met) c.251A>T (p.Lys84Met) c.563A>T (p.Lys188Met) | |
17 | g.3660270G>A | CA497466735 | CTNS | c.1005G>A (p.Lys335=) c.252G>A (p.Lys84=) c.564G>A (p.Lys188=) | |
17 | g.3660270G>C | CA397694124 | CTNS | c.1005G>C (p.Lys335Asn) c.252G>C (p.Lys84Asn) c.564G>C (p.Lys188Asn) | |
17 | g.3660270G>T | CA397694126 | CTNS | c.1005G>T (p.Lys335Asn) c.252G>T (p.Lys84Asn) c.564G>T (p.Lys188Asn) |